Developmental disabilities across the lifespan

Developmental Disabilities Across the Lifespan Dilip R. Patel, MD, FAAP, FAACPDM, FSAM, FACSM, Donald E. Greydanus, MD, FSAM, FAAP, FIAP, Joseph L. Calles Jr, MD, and Helen D. Pratt, PhD Introduction Developmental disabilities (DD) or neurodevelopmental disabilities (includes intellectual disability (ID)) are a diverse group of chronic disorders (Table 1) that begin at any time during the development process (including conception, birth, and growth) up to 22 years of age and last throughout an individual’s lifetime.1 The underlying basis for these disorders lies in fundamental deficits in the developing brain due to genetic, prenatal, perinatal, metabolic, and other factors.2 DD affect 17% of individuals younger than 18 years of age in the USA.1 Prevention along with early recognition and intervention are critically important to mitigate the enormous personal and socioeconomic impact of these disorders. It is estimated that the lifetime cost for those born in 2000 with ID will be $50 billion, $11 billion for cerebral palsy (CP), $2 billion for hearing loss, and $2.5 billion for vision impairment.1 Historically, the field of neurodevelopmental disabilities has evolved based on a firm foundation of basic and clinical neurosciences.3 Much of the credit for the recognition of neurodevelopmental disabilities as a specialty in the USA goes to the father of developmental pediatrics, Dr. Arnold J Capute (1923-2003), and his fellows from the Kennedy Krieger Institute at Johns Hopkins University.4,5 Neurodevelopmental disabilities was recognized as a specialty by the American Board of Medical Subspecialties in 1999. As a true reflection of its interdisciplinary nature and its foundation in neuroscience, the 4-year training curriculum is an integrated training program in adult neurology with a focus on adults with DD (12 months), child neurology plus neurodevelopmetal disablities (18 months), and related clinical as well as basic neurosciences (18 months).

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TABLE 1. Major categories of developmental disabilities Intellectual disability Learning disabilities Communication disorders Autism spectrum disorders Neurobehavioral disorders Neurogenetic disorders Neurometabolic disorders Neuromuscular disorders Cerebral palsy Other neuromotor disorders Sensory impairments Disabilities associated with chronic diseases Traumatic brain injuries Spinal cord injuries

It is a specialty that focuses on the care of individuals with DD across the lifespan.3 Because most people with DD survive into adulthood, their medical care spans the fields from pediatrics to adult medicine.6-10 Transitioning the medical care of persons who have DD from the pediatric to the adult system is challenging. It is difficult to find general internists and subspecialists in adult medicine who will take on the medical care of adults who have DD.10 One of the reasons for this is inadequate training. We provide an overview of major DD and a review of selected concepts related to their medical care. For those who are less familiar, this will serve as a global introduction or primer on DD.

Definitions Because of the enormous implications for access to medical care for persons who have DD, it is important to understand how disability is defined by current programs and regulations. The World Health Organization has developed the International Classification of Functioning, Disability, and Health, which consists of 3 key components— body function and structure, activity, and participation—that provides a framework for delineating disabilities (Table 2).11,12 The 3 key components of functioning and disability are interrelated and may interact with the health condition (eg, disorder or disease) and personal and environmental factors. According to the Individuals with Disability Education Improvement Act (IDEA) (2004), the term child with a disability means a child with ID, hearing impairments (including deafness), speech or language impairments, visual impairments (including blindness), serious emotional dis306

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TABLE 2. World Health Organization International Classification of functioning, disability, and health

Normal Function

Lack of Normal Function

Body function The physiological functions of the body

Impairment Problems in the body function as a significant deviation or loss Impairments Problems in structure as a significant deviation or loss Activity limitation Difficulties an individual may have in executing activities Participation restrictions Problems an individual may have in involvement in life situation Disability A global term used to encompass problems with body functions, body structures, activity limitations, and participation restrictions

Body structures Anatomic parts of the body Activity The execution of a task or action by an individual Participation Involvement in a life situation Functioning A global term used to encompass body functions, body structures, activities, and participation http://www.who.int/classifications/icf/en/.

TABLE 3. Related services provided under the IDEAa Audiology services Corrective services Counseling services, including rehabilitation counseling Developmental services Interpreting services Medical services (diagnostic and evaluation only) Orientation and mobility services Physical and occupational therapy Psychologic services Recreation, including therapeutic recreation School nurse services Social work services Speech-language pathology Transportation a

Individuals with Disability Education Improvement Act.

turbance, orthopedic impairments, autism, traumatic brain injury, other health impairments, or specific learning disabilities (LDs).13 A child with a disability as defined by the IDEA needs special education and related services (Table 3), as may be required to assist a child with a disability to benefit from special education and includes the early identification and assessment of disabling conditions in children. Related services do not include a medical device that is surgically implanted, or the replacement of such a device. DM, June 2010

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The term infant or toddler with a disability means an individual under 3 years of age who needs early intervention (EI) services because she or he is experiencing developmental delays, as measured by appropriate diagnostic instruments and procedures in one or more of the areas of cognitive development, physical development, communication development, social or emotional development, and adaptive development; or has a diagnosed physical or mental condition that has a high probability of resulting in developmental delay. According to the Americans with Disabilities Act, the term “disability” means, with respect to an individual, a physical or mental impairment that substantially limits one or more major life activities of such individual; a record of such an impairment; or being regarded as having such an impairment.14 Major life activities include, but are not limited to, caring for oneself, performing manual tasks, seeing, hearing, eating, sleeping, walking, standing, lifting, bending, speaking, breathing, learning, reading, concentrating, thinking, communicating, and working. A major life activity also includes the operation of a major bodily function, including but not limited to, functions of the immune system, normal cell growth, digestive, bowel, bladder, neurologic, brain, respiratory, circulatory, endocrine, and reproductive functions. An individual meets the requirement of “being regarded as having such an impairment” if the individual establishes that he or she has been subjected to an action prohibited under the Americans with Disabilities Act because of an actual or perceived physical or mental impairment whether the impairment limits or is perceived to limit a major life activity. The impairment must not be transitory and minor. A transitory impairment is an impairment with an actual or expected duration of 6 months or less. According to the Social Security Administration, disability is based on an individual’s inability to work.15 Under Social Security, an individual is considered to have a disability if the individual cannot do work that he or she did before; he or she cannot adjust to other work because of the medical condition(s); and the disability has lasted or is expected to last for at least 1 year or to result in death. This is a strict definition of disability. Social security program rules assume that working families have access to other resources to provide support during periods of short-term disabilities, including workers’ compensation, insurance, savings, and investments.

Basic Concepts of Developmental Diagnosis An understanding of basic concepts of developmental diagnosis is essential to the understanding of DD.16-21 Development generally follows 4 domains and is referred to as having a typical progression when it is 308

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TABLE 4. Definitions of atypical child development Developmental Delay. Significantly delayed attainment of milestones or skills in 1 or more domains, but in a correct sequence, compared with that of typically developing children Developmental Deviation. The attainment of developmental skills in a given domain that is out of sequence, for example, when an infant rolls from supine to prone before prone to supine Developmental Dissociation. The attainment of developmental skills at significantly different rates between 2 or more domains of development; for example, when there is delayed motor development relative to other domains in cerebral palsy Developmental Regression. Loss of previously acquired developmental milestones or skills or failure to acquire new skills

proceeding as expected: (1) motor development consists of fine-motor and gross-motor domains; (2) speech and language development has both receptive and expressive domains; (3) social-emotional development is a reflection of or a combination of development in other domains that includes fine-motor adaptive abilities, overall communication abilities, and cognitive abilities; and (4) cognitive development generally refers to visual perceptual, visual motor, and problem-solving skills and abilities.16-19 The manner of progression of development is predictable in a typically developing child.16-19 Gross motor development progresses in a cephalocaudal sequence, whereas fine-motor development progresses from midline to lateral. Not all children attain developmental milestones at the same rate or at the same time; there is a range of normal variation. Not all typically developing children progress at the same rate in all developmental domains. The sequence of typical development is the same in all children. The primitive reflex patterns have to be integrated into evolving complex motor patterns for later (sequential) voluntary motor development to proceed. Development progresses from generalized and reflexive responses to more specific and purposeful responses. Developmental quotient (DQ) is a measure of rate of developmental progression in a given developmental domain. It is calculated as follows: DQ ⫽ (developmental age (DA)/chronologic age (CA)) ⫻ 100. A significant delay is a DQ that is equal to or less than 70 in a given domain.17 Intelligence quotient (IQ) is a measure of cognition or intelligence and is calculated as follows: IQ ⫽ (mental age (MA)/CA) ⫻ 100. IQ is measured using individually administered standardized tests of intelligence. Atypical child development is described as delay, deviation, dissociation, or regression (Table 4).17-23 Global developmental delay refers to a significant developmental delay in 2 or more developmental domains in DM, June 2010

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children less than 5 years of age.23 It is difficult to measure IQ reliably before age 5 or 6 years of age.23 Developmental surveillance refers to gathering and synthesizing information about developmental progress of the child based on history, observations by parents or other caretakers and health care practitioners, and during periodic visits on a longitudinal and continuous basis over time.20 The goal of the developmental surveillance is to identify children who may have developmental problems. Developmental screening refers to the administration of a brief standardized screening test to identify children at risk of a developmental disorder.20 Developmental screening with an appropriate standardized screening instrument is part of the periodic health maintenance examinations in the primary care setting at 9, 12, and 24, or 30 months of age.20 Screening for autism with standardized autism screening tools should be routine at the 18- and 24-month visit.21 Developmental evaluation is a diagnostic process that may involve appropriate laboratory testing, genetic testing, metabolic testing, neuroimaging studies, and psychologic testing as well as specialist consultations.20,22,23 The goal of the evaluation is to identify a specific developmental disorder and its etiology if known. If office screening yields suspicion for a developmental disorder, a formal and advanced testing is necessary to consider neuroimaging, electroencephalography, tests for genetic disorders, and specific laboratory tests for metabolic disorders based on findings on history, on physical examination, and in consultation with appropriate medical specialists.21-24 Any parental concern about development, hearing, or vision is an indication for further evaluation for developmental or sensory problems. Hearing evaluation is essential in all children with symptoms or signs of a developmental disorder. Current guidelines recommend universal hearing screening by 1 month of age with subsequent further diagnostic audiologic testing completed by 3 months of age. For those infants identified having hearing impairment, treatment intervention should start by an age of 6 months. Hearing and vision screening are also components of periodic health maintenance examinations. Children identified as being at risk for developmental problems based on developmental screening should have a referral for more formal diagnostic testing by a clinical psychologist. All children with significant developmental delay, with a DQ of 70 or less, should have a formal psychologic testing. All infants and children with developmental regression should be evaluated for neurological, genetic, or metabolic disorder. Children suspected of speech and language disorders should be evaluated by a speech-language pathologist. Children with symptoms and signs 310

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suggestive of autism spectrum disorders (ASDs) should be further evaluated by specialists with expertise in their evaluation.

Intellectual Disability Definition According to the American Association of Intellectual and Developmental Disabilities, ID “is a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills.”25,26 The assessment of intellectual functioning and adaptive behavior must consider the expectations based on individual’s age and culture.26 The influence on cognitive assessment of sensory, motor, communication, or behavioral factors should also be appropriately considered in administration of assessment instruments, and interpretation of their results.26 In the USA a widely used definition is the 1 from the IDEA that defines ID as “significantly sub-average general intellectual functioning, existing concurrently with deficits in adaptive behavior and manifested during the developmental period that adversely affects a child’s educational performance.”13 According to the Diagnostic and Statistical Manual of Mental Disorders, 4th ed, text revision (DSM-IV TR), ID (or mental retardation) is defined as an IQ of approximately 70 or below on an individually administered standardized test of intelligence concurrent with deficits in adaptive functioning in 2 of the following areas: communication, selfcare, home living, social or interpersonal skills, use of community resources, self-direction, functional academic skills, work, leisure, health, and safety. All definitions stipulate that the onset of disability must occur before the age of 18 years.27 It is generally agreed that, although not perfect, appropriately measured IQ provides the best objective estimate of intellectual functioning.27-29 Based on the mean value for IQ of 100, the upper limit of 70 as the cutoff represents the value that is 2 standard deviations below the mean. Because there is a 5-point standard error of measurement, it is argued that a range of 70-75 should be considered as the upper limit of IQ as the cutoff value for ID. Based on the typical bell-shaped curve of distribution of IQ scores, raising the IQ score from 70 to 75 as the upper limit of cutoff will double the number of individuals with ID from 2.27% to 4.85% of the population.25,26,28 An individual with an IQ score of 75 with significant adaptive disability will be considered to have an ID, whereas an DM, June 2010

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TABLE 5. Classification of intellectual disability severity Severity Level (Percentage of Individuals with ID)

Intelligence Quotient Range

Supports Needed in Daily Living Activities Such As School, Work, or Home

Mild (85%)

From 50-55 to 70

Intermittent

Moderate (10%)

From 35-49 to 50-55

Limited

Severe (4%)

From 20-25 to 35-40

Extensive

Profound (1%)

Less than 20-25

Pervasive

Support on as needed basis, episodic or short-term Consistent over time, but time limited Regular, consistent, lifetime support. Regular support in at least one aspect such as school, work or home High intensity, across all environments, lifetime, and potentially life-sustaining

(Based on American Psychiatric Association. DSM-IV TR, 2000; American Association of Intellectual and Developmental Disabilities, 2002.)

individual with no adaptive disability and an IQ score of 65 may not be considered to have an ID.26 The severity of ID can be categorized based on a combination of level of intellectual functioning, adaptive functioning, and intensity of supports needed (Table 5).26,27,30 When the level of intellectual functioning cannot be reliably assessed, but there is a high level of confidence based on clinical judgment, a diagnosis of ID can be made without specifying the severity of intellectual functioning.25,26

Epidemiology The reported prevalence of ID reflects consideration of the definition used, method of ascertainment of the data, and the characteristics of the population studied.31,32 Based on the typical bell-shaped distribution of intelligence in the general population and 2 standard deviations below the mean as a cutoff point, approximately 2.5% of the population is expected to have ID. Most epidemiologic studies consider those with an IQ score of 50 or less as having severe and those above 50 as having mild ID.28,31-33 Eighty-five percent of individuals with ID have mild ID.27-30 The prevalence of severe ID has remained the same over several decades at 0.3%-0.5% of the population in the USA.30 Based on the USA National Center for Health Statistics 1997-2003 National Health Interview Survey, the prevalence of ID among children ages 5-17 years is estimated to be 7.5 per 1000.30 ID is reported to be twice as common in males as in females. The recurrence risk of ID in families with 1 previous child with severe ID is reported to be between 3% and 9%.26,29,30 312

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TABLE 6. Common presentations of intellectual disabilitya by age Age Newborn

Early infancy (2-4 months) Later infancy (6-18 months) Toddlers (2-3 years) Preschool (3-5 years)

School age (older than 5 years)

Area of Concern Dysmorphic syndromes, microcephaly Major organ system dysfunction (eg, feeding and breathing) Failure to interact with the environment Concern about vision and hearing impairments Gross motor delay Language delays or difficulties Language difficulties or delays Behavioral difficulty, including play Delays in fine motor skills: cutting, coloring, drawing Academic underachievement Behavior difficulties (attention, anxiety, mood, conduct, and so on)

a

The word mental retardation from source is replaced with intellectual disability. (Used with permission from Shapiro BK, Batshaw ML. Mental retardation (Intellectual disability). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson Textbook of Pediatrics, 18th ed. Philadelphia: Elsevier, 2008. p. 193, Table 38-4.)

Mild ID is associated predominantly with environmental risk factors and a specific etiology can be identified in less than half of affected individuals.30-32 On the other hand, underlying biologic or neurologic etiology can be identified in more than two thirds of affected individuals who have severe disability.26,29,31 The most commonly identified conditions in children with severe ID include chromosomal disorders, genetic syndromes, congenital brain malformations, neurodegenerative diseases, congenital infections, inborn errors of metabolism, and birth injury.30-32

Diagnosis and Clinical Features Children who have ID can present with a wide range of initial clinical symptoms and signs depending on the underlying cause and severity of the disability. Children who have severe ID generally present early and with clinical features of an underlying condition. Children with mild ID generally do not have underlying identifiable etiology and present with developmental delay or behavioral symptoms and are identified relatively later. Common presentations of ID by age are summarized in Table 6.20,28 The age at which ID can be recognized depends on its severity (Table 7).19,20,22,23,29 Some of the signs of ID that parents may report include the following: child is late to sit, crawl, or walk; is late to learn to talk; has trouble speaking; finds it hard to remember things; has trouble understanding social roles; has trouble seeing the results of their actions; or has trouble solving problems.30 DM, June 2010

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TABLE 7. Average age at recognition of intellectual disability Severity of Intellectual Disability Mild Moderate Severe Profound

Most Likely Age at Recognition ⱖ5-6 3-5 ⱕ3 ⱕ2

y y y y

TABLE 8. Factors considered in the decision to establish etiology of intellectual disability Biological cause can be found in 75% of individuals with severe intellectual disability Disease-specific features may indicate which tests to order If more children are planned, a prenatal diagnosis and early appropriate intervention may be planned Associated complications can be anticipated Specific cause may be treatable Aid in the development of prevention strategies Research is facilitated Intervention can be planned for anticipated behavioral symptoms Genetic counseling can be provided Helps in long-term life planning

Diagnosis of ID is suspected based on the presenting behavioral and developmental symptoms. The next step is to obtain additional history followed by a complete general physical examination, dysmorphology examination, and neurological examination. By definition, a diagnosis of ID requires individualized cognitive and adaptive testing by qualified examiners using standardized psychometric instruments. Standardized testing should be age appropriate, should take into account the mental age of the child, and should be culturally sensitive. Appropriate accommodations should be made for any motor, behavioral, or language variations. A workup should include compete audiologic and vision evaluation in all children. There is no consensus regarding the need to establish an etiologic diagnosis in all children who have ID. Parents or other caregivers are also divided in their need to know the cause of ID in their child. Factors that are considered to favor pursuit of etiologic diagnosis of ID are summarized in Table 8.19,20,22-24,26,29 There is no identifiable specific cause in most children with mild ID. The likelihood of identifying a specific etiology increases as the severity of ID increases. Some of the known causes of ID include fragile X syndrome, fetal alcohol syndrome, other genetic syndromes, lead toxicity, iron deficiency, brain malformations or dysgenesis, and 314

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tuberous sclerosis. Fragile X syndrome is the most common inherited form of ID.24,26,28-33 In the absence of well-defined clinical symptoms and signs, an extensive workup that includes genetic testing, neuroimaging, and metabolic testing is needed to search for a potential cause of ID.34 Such an extensive workup should preferably be undertaken in consultation with specialists with expertise in this field. The yield of these tests in identifying a cause varies depending on the presence or absence of associated symptoms and signs.22,23,34 Newborn screening programs generally identify major inborn errors of metabolism and the yield of metabolic testing done later in infancy and childhood is reported to be ⱕ1%.23 The yield of neuroimaging in detecting brain abnormality ranges from 33% to 63%.23 Abnormal findings on neuroimaging may or may not help in establishing a cause of ID. The yield of genetic testing in identifying a specific genetic condition varies widely depending on the extent of testing.23,24,34 ID should be differentiated from developmental language disorders and ASDs.21 In children who have ID, the predominant deficits are noted in cognitive abilities and language.25 Their social development is commensurate with their mental age and generally there are no motor deficits. Children who have developmental language disorders or specific language impairments have predominant deficits in various aspects of language development, whereas their social, motor, and cognitive development progresses typically.20-23 Children who have ASDs have predominant deficits in social and language or communication domains, whereas their motor development is typical.21 In children who present with symptoms suggestive of ID, hearing and vision impairments should be ruled out. Other main consideration in the differential diagnosis of ID is environmental deprivation. Mental disorders such as attention deficit hyperactivity disorder, mood disorders, anxiety disorders, and ASDs are 3-4 times more common in children with ID than in children who do not have ID.26,27,30

Management Principles In addition to medical evaluation and management, the physician plays a vital role in facilitating and coordinating the overall long-term management for individuals who have ID. The principles outlined here are applicable to all the DD in general. Children who have ID are best managed by an interdisciplinary team approach in the setting of a medical home.20 There is no consensus as to the best approach to managing adults who have ID. The physician should DM, June 2010

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TABLE 9. Early interventions services provided under the IDEA Family training, counseling, and home visits Special instruction Speech-language pathology and audiology services Sign language and cued language services Occupational therapy Physical therapy Psychologic services Service coordination services Medical services for diagnostic or evaluation purposes Early identification, screening, and assessment services Health services necessary to enable the infant or toddler to benefit from the other early intervention services Social work services Vision services Assistive technology devices and assistive technology services Transportation and related costs that are necessary to enable an infant or toddler and the infant’s or toddler’s family to receive another services

refer the child to community-based agencies and programs for appropriate intervention services primarily depending on the age of the child. The physician should have ongoing communication with local agencies that provide such intervention services to the child and should facilitate and coordinate needed medical evaluations and specialist consultations. In the USA several federal and state laws provide the framework and funding for intervention programs and educational services for children with DD.13,14,30,35,36 The mainstay of overall management of young children (younger than 3 years of age) who have DD is EI services (Table 9) provided by local community agencies through the development and implementation of the Individualized Family Service Plan. EI services are designed to meet the developmental needs of an infant or toddler with a disability as identified by the Individualized Family Service Plan, in one or more of the developmental domains. EI services are provided by appropriately qualified professionals (eg, special educators, speech and language pathologists, registered dieticians, physicians). To the maximum extent possible EI services are provided in a child’s natural environments, including the home, and community settings in which children without disabilities participate. For children and adolescents between the ages of 3 and 16 years, the main focus is on educational interventions, including special education, developed and implemented by the student’s school district. This is called the Individualized Education Plan. An Individualized Transition Plan is developed between 14 and 16 years of age that addresses the student’s transition to adult services, vocational training, and independent living. 316

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After the completion of high school, the individual is supported by the Individualized Habilitation (support) Plan that provides adult support services. The intensity of support services needed depends on the severity of ID. Epilepsy, sleep difficulties, and nutrition in individuals with all types of DD are some of the major management concerns for the physician. The estimated lifetime prevalence of epilepsy is 4-8 times greater in the DD population than it is in the general population.37,38 Rates increase with age, the level of intellectual impairment, and the presence of neurological disorders, such as CP. Controlling the epilepsy associated with DD can be difficult, based on seizure characteristics (eg, having more than 1 seizure type) and patient characteristics (eg, sensitivity to the effects of antiepileptic drugs). Medication side effects may manifest in nonsomatic ways, such as behavioral dyscontrol or a worsening of cognitive functioning. The optimal management of these often complex seizure disorders will often be coordinated by a pediatric neurologist or a pediatrician with training and experience in DD. Sleep difficulties are more common in people with DD than in the general population.39 The estimated prevalence of sleep disorders in that population varies widely, with up to 86% reporting disturbed sleep.40 Inadequate or poor quality sleep can further compromise daytime cognitive functioning or contribute to behavioral disturbances, such as aggression. The initial treatments for sleep problems in individuals with DD are behavioral in nature.40 Obstructive sleep apnea is common in people with Down syndrome (DS), especially when snoring is present; it is primarily treated with continuous positive airway pressure.41 For sleep difficulties not responding to behavioral interventions, a trial of melatonin may be initiated, although its positive effect on sleep may only be a reduction in time to sleep onset.42 Problems with eating are also common in people with DD. In young children with both disabilities and feeding disorders, proper medical evaluation is warranted, because there are high rates of gastroesophageal reflux (56%) and oropharyngeal dysphagia (27%) in that population.43 Children with DD evidence higher rates of other types of disordered eating, such as pica and obesity, when compared with developmentally normal children.44,45 Eating disorders in individuals with DD continue to be a problem into adulthood. A Norwegian study found that 27% of community-living adults with DD displayed evidence of an eating disorder, with the highest number engaging in binge-eating, while those with severe DD had higher rates of anorexia nervosa. Nutritional issues aside, disordered eating in those with DD has implications for overall DM, June 2010

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TABLE 10. Adult outcomes and functioning of persons who have intellectual disability Level Mild

Mental Age as Adult

Adult Adaptation

9-11 y

Reads at 4th-5th grade level; simple multiplications/divisions; writes simple letters, lists; completes job application; basic independent job skills (arrive on time, stay at task, interact with coworkers); uses public transportation; may qualify for recipes Moderate 6-8 y Sight-word reading; copies information, eg, address from card to job application; matches written number to number of items; recognizes time on clock; communicates; some independence in self-care; housekeeping with supervision or cue cards; meal preparation, can follow picture recipe cards; job skills learned with much repetition; uses public transportation with some supervision Severe 3-5 y Needs continuous support and supervision; may communicate wants and needs, sometimes with augmentative communication techniques Profound less than 3 y Limitations of self-care, continence, communication, and mobility; may need complete custodial or nursing care (Used with permission from Shapiro BK, Batshaw ML. Mental retardation (Intellectual disability). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson Textbook of Pediatrics, 18th ed. Philadelphia: Elsevier, 2008. p. 197, Table 38-6.)

health and safety.46 Interventions should be comprehensive and involve a team that includes dietitians and behavior specialists.

Outcome The adult outcomes and functioning of individuals with ID are summarized in Table 10.6,7,8,26,27,29,30 Although ID is initially identified in infancy and early childhood years, it has lifelong implications for growth and development, education, ability to live independently, health care, ability to find employment, and need for community-based supports. Communication difficulties can have a major impact in the lives of persons who have ID. Other issues that have relevance to provision of medical care to adults who have ID include their ability to consent for care and procedures, financial independence, community living conditions (Table 11), ability to obtain employment (Table 12), and end-of-life care issues.6-8,26,28-30 These issues affect individuals with all types of DD. Advancing age is a risk factor for the development of dementia, and this is especially true in DS, and, to a lesser extent, in other IDs.47 The presence of dementia exacerbates the baseline cognitive impairments of people with IDs and greatly increases the amount of time and effort needed to provide their care and to ensure safety. Given that the dementia associated 318

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TABLE 11. Community living options for persons with DD Family Home. Young adult individuals who have developmental disabilities live at home with family who provide most support and assistance as needed. Supported Living. Individuals who have developmental disabilities live independently in the community setting with appropriate support (such as aide at home, transportation, and assistive technology) provided by different agencies in the community. Assisted Living. Typically 5-7 individuals who have developmental disabilities live in a group home setting. Needed support or assistance is provided based on individual needs and abilities in all areas of daily living. Intermediate Care Facilities. Individuals with developmental disabilities who need extensive and complex care may live in intermediate care facilities. Typically fewer than 25 individuals are housed in such facilities. Care is provided in an integrated setting. (Used with permission from Burdo-Hartman WA, Patel DR. Medical home and transition planning for children and youth with special health care needs. Pediatr Clin North Am 2008;55(6):1294, Table 2.)

TABLE 12. Employment or workplace options for persons with DD Supported Employment. Young individual who has a developmental disability (DD) will work in an integrated setting with those without DD. Specific needed additional support and assistance is provided as individually determined. Such programs are administered by the Bureaus of Vocational Rehabilitation and DD agencies at the state level. Competitive Employment. This refers to regular employment like all individuals in an integrated setting. Individuals who have DD are expected to function in the same manner as those who do not have DD. Same support and assistance to all employees as applicable by law. Sheltered Workshops. Young individuals who have DD work in a segregated setting. Development of skills and work expectations are limited and focused on specific areas based on individual abilities. This option is now uncommon. Day Treatment Programs. Young individuals who have DD and need extensive support may be enrolled in day treatment programs. Assistance and support are provided for most functions of daily living rather than on developing work skills. (Used with permission from Burdo-Hartman WA, Patel DR. Medical home and transition planning for children and youth with special health care needs. Pediatr Clin North Am 2008;55(6):1294, Table 3.)

with DS is of the Alzheimer type, currently available antidementia medications may be cautiously tried, although there is little research on the use of those agents in patients with DS, or any other DD syndrome.48

Learning Disabilities Definition The term learning disability describes difficulties in specific areas of learning that have a direct relation to academic performance. The terms LDs and learning disorders are often used interchangeably in the literature. The main types of LDs are reading disability (dyslexia), DM, June 2010

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TABLE 13. Definition of specific learning disabilities Defined as difficulties with Oral expression Listening comprehension Written expression Basic reading skills Reading fluency skills Reading comprehension Mathematics calculation Mathematics problem solving Excluded by the presence of A visual, hearing, or motor disability Mental retardation Emotional disturbance Cultural factors Environmental or economic disadvantage Limited English proficiency (From the US Department of Education http://idea.ed.gov/explore/view/p/%2Croot%2 Cdynamic%2CTopicalBrief%2C23%2C. Accessed December 20, 2009.)

mathematics disability (dyscalculia), disorder of written expression (dysgraphia), and nonverbal learning disability.49,50 The failure to achieve academically in children who have LDs occurs in the presence of age-appropriate teaching and learning experiences and is not the result of cognitive deficits or sociocultural factors.49,50 Early identification is crucial to prevent academic failure, behavioral disturbances, low selfesteem, early school dropout, and lifelong implications for academic success, occupation, socioeconomic well-being, and consequently health. According to the IDEA, a child has specific learning disability if the child does not achieve adequately for the child’s age or to meet state-approved grade-level standards in one or more of the areas listed in Table 13, when provided with learning experiences and instruction appropriate for the child’s age or state-approved grade-level standards.13 The IDEA further stipulates that to ensure that underachievement in a child suspected of having a specific learning disability is not due to the lack of appropriate instruction in reading or math, the following must be considered, as part of the evaluation: data that demonstrate that before, or as a part of, the referral process, the child was provided appropriate instruction in regular education settings, delivered by qualified personnel; and data-based documentation of repeated assessments of achievement at reasonable intervals, reflecting formal assessment of student progress during instruction, which was provided to the child’s parents.13 The public agency must promptly request parental consent to evaluate the 320

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child to determine if the child needs special education and related services. Specific LD is diagnosed when the child or adolescent’s scores on an individually administered standardized achievement test (in reading, mathematics, or written expression) are substantially below that expected based on his or her age, level of education, and IQ. Because LDs can occur at all levels of IQ, the definitional concept of discrepancy between ability and achievement is an area of controversy and debate in the LD literature.13,49,50

Epidemiology Specific reading disability is fairly common, with up to 17.5% of children being affected.51,52 Dyslexia is highly comorbid with other developmental problems, including impairments in language, motor skills, and behavioral control.53 Reading disability is also a contributor to juvenile delinquency and leads to higher rates of recidivism.54 Dyslexia is identified in 80% of children who have LDs. Specific mathematics disorder (also known as dyscalculia) is also fairly common, seen in 3%-6% of school-age children.55-57 It is more common in girls than in boys, possibly related to environmental, rather than biologic, factors. The presence of dyscalculia should prompt physicians to look for medical and psychiatric syndromes, given that mathematics disorder is present at higher-than-average rates in conditions such as epilepsy and fragile X syndrome.55-59 Of the all LDs, the disorder of written language (also called writtenlanguage disorder, or WLD) is the least researched.60,61 However, a study from Minnesota found that, by age 19 years, 6.9%-14.7% of the subjects met criteria for WLD, which is about as common as reading disorder.60 Boys with WLD outnumbered girls 2-3:1 and 25% of all subjects had WLD without a comorbid reading disorder.

Diagnosis and Clinical Features Children. Early (about third grade) academic or learning difficulties can present as poor grades, delay in completing assignments, inattention, delay in learning new skills, and difficulties in comprehending or reading.49,50 These children may also be shy and withdrawn and have behavioral problems at school. Differential diagnosis should include attention deficit/hyperactivity disorder, sensory impairments, developmental coordination disorder, and ID or borderline intellectual functioning. Vision and hearing impairment should be ruled out. A child with visual impairment might close or cover 1 eye; squint the eyes or frown; DM, June 2010

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complain that things are blurry or hard to see; have trouble reading or doing other close-up work, or hold objects close to eyes; blink more than usual or seem cranky when doing close-up work such as looking at a book. A child with either complete or partial hearing impairment might not turn to the source of a sound from birth to 3 or 4 months of age; may not say single words, such as “dada” or “mama” by 1 year of age; turns head when he or she sees you but not if you only call out his or her name. This often is mistaken for not paying attention or just ignoring. Developmental coordination disorder affects school-age children and persists into adolescent years.27 Difficulties in motor coordination will cause substantial impairment in academic function or activities of daily living. Earliest manifestations may include difficulty sucking and swallowing, drooling during infancy, and speech difficulties and delayed motor milestones during early childhood. Parents may observe that the child has difficulties with many of the fine motor tasks such as using scissors, tying shoelaces, or buttoning or unbuttoning. They also may drop objects, have poor handwriting, or will frequently bump into furniture or other people. Adolescents. LDs are the main consideration in older children and adolescents with difficulties with school work. In addition to specific signs associated with LDs, these children and adolescents may present with behavioral symptoms. The differential diagnoses should also include anxiety disorders, attention deficit hyperactivity disorders, ASDs, and disruptive behavior disorders. In adolescents substance abuse and depressive disorders should also be considered. Reading disorder may not be apparent until fourth grade, especially if mild and in children with high IQ.51-53 Some of the clinical features of reading disorder include delayed language, problems with rhyming words or words that sound alike, difficulty learning letters of the alphabet, spelling errors, difficulty reading (decoding) unfamiliar or nonsense words or single words, and slow reading.51 A child with mathematics disorder will have difficulties with skills in arithmetic by the end of second or third grade.55 Some of the features include difficulties understanding or naming mathematical terms, operations, or concepts; difficulties decoding or recognizing mathematical symbols or signs; difficulties copying numbers or figures, following sequences of mathematical steps, and counting or multiplication tables.55-59 Disorder of written expression is apparent by the end of the fifth grade and the child presents with writing skills, which include grammatical errors, punctuation errors, poor paragraph organization, spelling errors, and very 322

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poor handwriting.60,61 A person who had nonverbal learning disability will have difficulties with problem-solving, visual-spatial, and visual-perceptual deficits, while language-based skills and intelligence are normal.

Management Principles Management of LDs is based on various educational interventions.51,55,61,62 The physician plays an important role in early recognition, evaluation for any underlying medical conditions, and initiating appropriate referrals for diagnostic evaluations and EI. The interventions for LDs change from early childhood to adulthood. Remediation of the deficits is the main focus in young children.49,62 For example, remedial interventions in dyslexia should focus on the underlying deficit, specifically phonemic awareness.51 Programs that provide instructions in phonemic awareness, phonics, vocabulary, and reading comprehension strategies have been found to be the most useful.51,52 The management strategy for the student in secondary school and college shifts from remediation to accommodation.49 For example, the most important accommodation for persons with dyslexia is to allow extra time for reading.53 Examples of other accommodation strategies are laptop computers with spellcheckers, recorded books, and alternatives to multiple-choice questions. Similar principles are applied for the management of children who have LDs in general. In addition to remediation and accommodation, curriculum support (assisting the student with academic challenges) is also important.49,62 For adults, learning difficulties pose challenges in the workplace and their special needs should be recognized and appropriate workplace accommodations should be provided.

Outcome It is important to recognize that LDs are not cured, and various deficits persist throughout life. When compared with those with typical reading ability, adolescents with poor reading skills have higher rates of overall impairment, poor role functioning, poor behavior toward others, disturbed moods and self-harm, and disturbed thinking.63 The continuation of reading difficulties into adulthood does not necessarily predict poor educational achievement, yet may increase the risk for psychiatric disorders.64 Early educational intervention to help youth who have dyslexia may reduce or prevent the development of other problems, including legal ones. About one half of children with dyscalculia will continue to struggle in the short-term; longer term effects on academic, occupational, and emotional functioning are unknown. DM, June 2010

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TABLE 14. Basic components of language Structure or Form of Language Phonology Sound system of the language that is made of phonemes. Use of phonemes and conventions for their combinations Grammar Morphology Rules or conventions for constructing meaningful words, eg, adding -S/-es to a word to indicate plural (duck/ducks) Syntax Rules or conventions for constructing meaningful phrases or sentences and their relationship, eg, word order “Daddy go there” but “There Daddy go” is not typical English structure Content of the Language Lexicon Vocabulary Semantics Relationship among words, symbols representing universal concepts, meaning of words (eg, in relation to objects, agents, an action, states, attributes or locations), meaning and relationship of abstract concepts (eg, idioms and proverbs). Use of the Language Pragmatics Rules or conventions for use of language in a socially and culturally appropriate manner and in the appropriate context, eg, turn taking, eye contact, maintaining a topic in conversation (Used with permission from Patel DR. Principles of developmental diagnosis. In: Greydanus DE, Feinberg A, Patel DR, Homnick DN, editors. Pediatric Diagnostic Examination. New York: McGraw Hill, 2008. p. 630, Table 18-1.)

Adolescents who have LDs have increased rate (up to 40%) of dropping out of school, low self-esteem, and social skills deficits.49,50,53 The risk for developing a psychiatric disorder is also much higher in adolescents who have LDs. There are no good data on the natural course and long-term prognosis of WLD.60 It seems reasonable to assume that academic programs or occupations that emphasize writing (eg, journalism) might exclude individuals with writing disorders, or at least make it more difficult for them to succeed at them. However, EIs to maximize skills in other modes of expression, such as speaking, might afford an otherwise qualified person the opportunity to pursue his or her career of choice.

Communication Disorders Definition Language is a system of symbolic knowledge represented in the brain used for meaningful communication.65 The English language has 44 phonemes. A phoneme is a unit of sound in speech.65,66 A morpheme (word) refers to the smallest meaningful unit of language.67 The basic components of the language are defined in Table 14.65-67 Speech is the 324

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TABLE 15. Major categories of communication disordersa Expressive Language Disorder. Scores obtained from standardized individually administered measures of expressive language development are substantially below those obtained from similar measures of both IQ and receptive language development Mixed Receptive-Expressive Language Disorder. Scores obtained from a standardized individually administered measure of both receptive and expressive language development are substantially below those obtained from similar measures of nonverbal intellectual capacity Phonologic Disorder. Failure to use developmentally expected speech sounds that are appropriate for age and dialect Stuttering. Disturbance in normal fluency and time patterning of speech (inappropriate for the age of the individual) Communication Disorder Not Otherwise Specified. Does not meet criteria for any other communication disorder a

For all the disorders there must be interference with individual’s academic, occupational achievement, and social functioning. Based on DSM-IV TR, 2000.

production of sounds of words. Prosody is the rhythm, stress, and intonation of the speech. DSM-IV TR based communication disorders are summarized in Table 15.27 Communication disorders in this section refer to developmental (vs acquired) disorders unless otherwise stated.

Epidemiology Communication disorders are common in school-age children. An Australian study evaluated primary and secondary school students in 1996 (wave 1) and 1998 (wave 2); there were slightly over 14,500 students in each wave.68 Communication disorders were identified in 13.04% and 12.40% of the students in waves 1 and 2, respectively. For those students with “learning needs,” the wave 1 and 2 prevalence for comorbid communication disorders were 35.64% and 37.30%, respectively. In school-age children the prevalence of expressive language disorder is reported to be 3%-7%, and mixed receptive-expressive disorder is reported to be 3%-5%.27,68 The reported prevalence of phonologic disorder is 2% by 6-7 years of age and 0.5% by 17 years of age and that for stuttering ranges 0.8%-1.0% in adolescents.27,68

Diagnosis and Clinical Features It is important for the physician to recognize early signs of communication disorders. Diagnosis of a specific communication disorder requires evaluation by a speech-language pathologist. Speech and language problems may present as any number of symptoms including poor intelligibility (normal 25% by age 2, 50% by age 2; 75% by 3% and 100% by age 4), persistent baby talk, mispronunciations of words, or lack of spontaneous speech. DM, June 2010

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Individuals with expressive language disorder have limited vocabularies, word-finding difficulties, and brief, simplistic verbal productions.27,65,67 The ability to comprehend language, however, is intact. Early struggles with expressive language may increase the risk for later behavioral problems. In a UK study of children with speech and language difficulties, low scores on a test of expressive language correlated with teacher-rated “total difficulties” at ages 8, 10, and 12 years.69 The total difficulties score is a composite of scores in the areas of emotional symptoms, conduct problems, hyperactivity, peer problems, and prosocial (ie, positive) behaviors; all but the prosocial scores were elevated in the studied children. The development of expressive language is dependent on the development of receptive language skills.65,66 Children learn to discriminate sounds and identify the meaning of words well before beginning to speak; adults usually reexperience this sequence when learning a second language. In those with mixed receptive-expressive language disorder (either developmental or acquired), there is a variable degree of impairment in the ability to properly identify and comprehend the sounds of letters, words, or sentences. In addition, there is always some associated adverse effect on expressive language (think “garbled in, garbled out”). In phonologic (syntactic deficit or functional articulation) disorder, the comprehension or the ability to recognize phonological rules receptively is mostly preserved or is relatively better (in most children) than expression.27,65-67 It is characterized by significant omissions, distortions, and substitutions of words and the speech is telegraphic, with limited vocabulary, and grammatical errors.66 The child tends to use short sentences and has difficulty in repetition of words or sentences. Phonologic disorder may not be recognized until preschool.66 Stuttering is characterized by disturbed speech fluency with atypical rate and rhythm, and repetitions of sounds, and syllables.27,65-67 The words and phrases generally are accompanied by evidence of stress or physical distress. There may be sound prolongations, interjections, pauses within words, and blocking of words. Typical onset of stuttering occurs between 2 and 7 years of age, with a peak at 5 years.27,65,68 In addition to the DSM-IV TR based categories of communication disorders, various other subtypes of developmental language disorders have been described in the literature.27 These include verbal dyspraxia, speech programming deficit disorder, verbal auditory agnosia, lexical deficit disorder, and semantic-pragmatic deficit disorder, the discussion of which is beyond the scope of this review.65-68 Children with developmental language disorders have predominant deficits in various aspects of language development, while their social, motor, and 326

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cognitive development is normal. Differential diagnosis of speech and language delay or disorders include speech and voice disorders, hearing impairment, developmental language disorders, ID, ASDs, maturational language delay, and lack of environmental stimulation for language learning and literacy.65-67 A bilingual home environment is not a cause for language delay.

Management Principles Deficits and abnormalities in speech and language can be symptoms of some underlying genetic, neurologic, or psychiatric disorder and the physician plays an important role in the medical diagnostic workup to diagnose these conditions and provide medical management when identified. Children who have abnormalities of speech and language should be referred to a speech-language pathologist for evaluation and long term treatment.

Outcome When children (ages 7-8 years) with developmental receptive language disorders (DRLDs) were compared with same-age children with autism, the latter group were clearly differentiated from the former by poorer communication skills and poorer socialization.70,71 By age 23-24 years the autism group subjects were still more impaired; however, the distinctions were less clear, and there was more overlap in communication and social skills between those with DRLDs and those with autism. In other words, by early adulthood, some individuals with DRLDs may be functionally similar to some individuals with autism. Most persons who have expressive language disorder acquire typical language abilities by adolescence, although mild deficits may persist in adults.65,67 The prognosis in those who have mixed receptive-expressive language disorder acquisition of normal language skills is relatively worse than in those who have expressive language disorder.66 Most children who have mild to moderate phonologic disorder have normal language by 6 years of age.27 Stuttering has a waxing and waning course. Some children who have stuttering may recover spontaneously by late adolescence; however, subtle dysfluencies may persist in 20%-80% of adults.27,66

Autism Spectrum Disorders Definition ASDs are a group of DD characterized by significant deficits in social, communication, and behavioral domains.72,73 Autistic disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified DM, June 2010

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(PDD NOS), are the 3 ASDs. Persons who have autistic disorder have significant language delays, social and communication challenges, and unusual behaviors and interests.73 A significant percentage of them also have ID. Persons who have Asperger syndrome manifest deficits in social domain and have unusual behaviors and interests; however, they typically do not have deficits in language or intellectual ability. Persons with PPD NOS have some features of autistic disorder and some features of Asperger syndrome, but do not meet all the criteria for either disorder.73

Epidemiology The Centers for Disease Control and Prevention reports that the overall prevalence of ASDs in the USA is 9.0 per 1000 population in children aged 8 years.72 The average prevalence of ASDs is 4 times higher in males than in females.73 The risk for a second child having an ASD, when an older sibling has ASD, is 5%-6%.72,73 In the USA, the average prevalence of ASDs identified among children aged 8 years has increased by 57% from 2002 to 2006.72 The prevalence of ASDs has increased 10-fold over the past 50 years.72,73 Although various reasons have been postulated for the increased prevalence, the exact reasons have not been clearly elucidated.73-75 Of the estimated 4 million children born in the USA each year, approximately 27,000 will eventually be diagnosed with ASD.72,73 Assuming a constant prevalence rate over the past 20 years, approximately 600,000 persons between the ages of 0 and 21 have an ASD.72,73 The prevalence rate of ASD in Asia and Europe is reported to be between 0.6% and 1%.73,76 There is high covariance between the ASDs and IDs, as between 50% and 70% of individuals with ASDs will have some type of ID; conversely, as many as 40% of those with IDs will have an ASD.77 In children with IDs, the most reliable prevalence rate of comorbid pervasive developmental disorders (PDDs) is 16.7%, which was derived using DSM-IV TR criteria.27,78 The ASD-ID combination tends to increase the severity of both disorders, leading to more subjective distress, less functional ability, and greater need for community services. No cause is found in most cases of ASDs.79,80 There are some genetic syndromes, both common (eg, DS and fragile X syndrome) and rare (eg, adenylosuccinate lyase deficiency), that are associated with higher-thanexpected rates of autism.81 It is unclear if there is something inherent in those syndromes that predisposes to the development of autistic features, or whether the risk is secondary to the intellectual impairment that is commonly seen in many genetic disorders. 328

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Diagnosis and Clinical Features Early diagnosis is essential so that EI can be implemented; that has been shown to optimize long-term positive outcomes in children who have an ASD. The American Academy of Pediatrics recommends routine screening of all children for ASDs at 18 and 24 months or at any time there is a concern about development.82 The most widely used screening instrument for office screening is the Modified Checklist for Autism in Toddlers.82 A full evaluation for ASD, significant cognitive delay, or language impairment is indicated in infants with the following: no babbling, pointing, or other gestures by 12 months of age; no single words by 16 months; no 2-word spontaneous phrases by 24 months of age; and any loss of previously acquired language or social skills.21,23,82 A deficiency in joint attention, that is, the ability to attend to both an object and a person at the same time (eg, when the infant or child points to or shows an object to her mother and simultaneously looks at her) is often an early sign in infants and toddlers with ASD.21,73,74 ASDs can be reliably identified by 2 years of age, some as early as 18 months.21,73,74 Parents usually first notice unusual behaviors and language difficulties in the child. Although, on an average, a diagnosis of ASD is often not made by the physician (or other professionals) until the child is 3-4 years old, a third of parents of children later diagnosed with an ASD have reported developmental problems in the child by 12 months of age, and 80% by 24 months of age.72 Parents describe the child as not socially responsive to others or who may intensely focus on 1 item for a long period. The child may demonstrate withdrawn, aggressive, or self-abusive behavior; have poor eye contact; become attached to a particular toy; and excessively line up toys or other objects.72,73 A child with ASD may not play pretend games, want others to leave him alone, has trouble understanding other people’s feelings, and demonstrates echolalia. Developmental regression may occur in ASDs between 18 and 24 months.21,72-74 Autistic Disorder. The syndrome that we now call autistic disorder was first described in a medical publication by Dr. Leo Kanner in 1943.79 He noted that autistic children could be differentiated from intellectually impaired and language-disordered children by 2 main features, the inability to relate socially and the obsessive need for sameness. Autistic disorder is a risk factor for the development of seizures, especially during adolescence if there was earlier evidence of epileptiform electroencephalographic abnormalities.83 Epilepsy is also a negative DM, June 2010

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prognostic factor for individuals with autistic disorder. Behavioral disturbances are common in those with autistic disorder and can begin in early childhood. In 1 study the maladaptive behaviors that were seen in autistic children were significant, even when compared with same-age peers with ID without autistic disorder.84 Not surprisingly, the more cognitively and functionally impaired the children were, the more likely they were to evidence both internalizing (eg, withdrawal) and externalizing (eg, aggression) behaviors. Asperger Syndrome. The diagnostic criteria for Asperger syndrome are similar to those for autistic disorder, in that the hallmark symptom is impairment in social interactions, with an associated restriction of interests and activities.85 Unlike in autistic disorder, intellectual ability is usually intact and language milestones are met. That is not to say, however, that language is completely normal. Individuals with Asperger syndrome tend to have some peculiarities in their speech, with either volume (eg, inappropriately loud), emotional tone (eg, monotone or robotic in character), or vocabulary (eg, vague or misused words). What is frustrating for people with Asperger syndrome is that their social problems do not necessarily derive from a lack of interest in social interactions—they just do not know how to make them work. The inability to pick up on social cues, “get” the point of jokes, show curiosity about other people, display empathy, and engage in reciprocal communication leads to the person with Asperger syndrome being ignored or ostracized by others (or, in the worst case scenario, being harassed or hurt). Pervasive Developmental Disorder Not Otherwise Specified. The severity of the behavioral problems displayed by patients with PDD-NOS, such as aggression and self-injury, falls somewhere between those who have autistic disorder and those who have ID.86 A Dutch study found high rates of psychopathology in children with PDD-NOS, with over one fifth being diagnosed with a disruptive behavior disorder.87

Management Principles The primary care physician (PCP) plays a critical role in early identification of children who are at risk for ASDs.21 In some children who have other findings on history and physical examination, appropriate subspecialty consultations and additional investigations should be initiated by the PCP. The most frequent such evaluations are genetic and neurologic. Early identification by routine screening is essential so that EI services can be initiated for children from birth through 3 years of age. The 330

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treatment for older children and adolescents is provided in the educational settings under various federal and state regulations. Children and adolescents are evaluated by multidisciplinary teams in the school and an individualized education plan is developed. Based on the needs of the individual child or adolescent, a wide range of interventions are implemented with ongoing evaluations and revisions as needed. Psychosocial and educational interventions are the mainstay of management of children and adolescents who have ASDs. These include comprehensive multimodal programs, various techniques of applied behavioral analysis, structured teaching programs, various developmental therapy models, speech and language therapy, social skills programs, and occupational therapy.82 Psychopharmacologic agents may be indicated in some children and adults to control severe behavioral symptoms or comorbid psychiatric disorders (see below). All children who have ASDs grow up to be adults with ASDs. Therefore, appropriate transition of health care from the pediatric to adult system is essential for ongoing medical care of persons who have ASDs. Adults with ASDs need ongoing general medical care and management of specific persistent behavioral symptoms. There is a paucity of research and available data on the best approach to managing adults who have ASDs.

Outcome In individuals who have autistic disorder, there is broad variability in the degree to which the 3 core areas are impacted, with the least affected individuals likely able to achieve some level of social, educational, or occupational competence.88 Conversely, the most severely impaired individuals with autistic disorder will not acquire functional language, may engage in potentially life-threatening behaviors (eg, head-banging), and will likely require lifelong care, possibly in institutional settings. A long-term study of autistic children followed into adulthood found more variability in the degree of maladaptive behaviors in the adult subjects with autism than seen when they were children.88 However, the same researchers found that overall functioning was considered “poor” in 78% of the autistic adults.89 Outcome studies of Asperger syndrome have been complicated by the debate over whether it can be distinguished from high-functioning autism (HFA).90 There are data to suggest that both disorders exist on the same spectrum,91 and speculation exists that the authors of the planned DSM-V (tentatively scheduled for 2012) will make “autistic spectrum disorders” a unified diagnostic category. Studies in which the 2 disorders can be DM, June 2010

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delineated show that individuals with Asperger syndrome have a better outcome than do those with autistic disorder. However, overall functioning may still be significantly impaired. For example, Cederlund et al., compared males with Asperger syndrome to males with autistic disorder, ⱖ5 years after the Asperger syndrome diagnosis had been made.92 The Asperger syndrome subjects were 16-36 years old at the time of follow-up. Despite the fact that intellectual capacity had remained stable in the Asperger group, 36% (of those ⱖ23 years of age) were not living independently and 26% were assessed as having a “restricted” or “poor” outcome. Legal involvement was experienced by 10% of the Asperger group (none in the autistic group). Some of the crimes (assault; sexual abuse) were serious in nature. There have been several case reports in the literature of individuals with Asperger syndrome who have resorted to violent acts, sometimes to the point of murder. A forensic psychiatric review of those cases revealed a high likelihood of psychiatric illness that was either undiagnosed or untreated.93 It is important, therefore, that the physician treating patients with Asperger syndrome identify psychopathology and initiate treatment or facilitate referral to mental health specialists (see the section below on Dual Diagnosis and Psychopharmacology).

Cerebral Palsy Definition According to American Academy of Cerebral Palsy and Developmental Medicine, CP describes a group of permanent disorders of development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain.94,95 The motor disorders of CP are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.95 CP is classified as spastic (hemiplegia, diplegia, quadriplegia), dyskinetic (choreoathetoid, dystonia), hypotonic, or mixed.94-96

Epidemiology The worldwide incidence of CP is estimated to be 2-3 per 1000 live births.94,97-99 Each year about 10,000 babies born in the USA develop CP.3,100 Because initial symptoms and signs suggestive of CP may resolve during first few years of life, the prevalence of CP is generally higher in infancy. Despite a tremendous improvement in obstetric and neonatal care, the overall prevalence of CP has remained the same since 332

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TABLE 16. Risk factors for developing cerebral palsy Maternal conditions before conception Advanced paternal age History of menstrual disorders Maternal epilepsy Maternal intellectual disability Maternal thyroid disease Pregnancy-related Bleeding in the third trimester Congenital malformations Exposure to teratogens In utero stroke Incompetent cervix Low birth weight (less than 2500 g) Maternal-fetal infections Multiple pregnancies Placental insufficiency Prematurity (gestational age less than 36 weeks) Tobacco, alcohol, illicit drug use Trauma while pregnant Labor and delivery related Emergency caesarean delivery Fetal bradycardia Intrapartum hypoxia Premature rupture of membranes Presentation anomalies Prolapsed cord Prolonged and difficult labor Traumatic delivery Vaginal bleeding at the time of admission for labor After delivery--neonatal Acute respiratory distress Coagulopathies Hypoxia Meningitis Neonatal hyperbilirubinemia Neonatal seizures Septicemia Traumatic brain injury

the 1950s.95,96 This trend is partly explained by the fact that most low birth weight and premature babies now survive. Although prematurity and low birth weight are significant risk factors for developing CP, multiple other risk factors have been identified (Table 16).94-101

Diagnosis and Clinical Features The most significant cause of motor delay in infancy is CP, which consists of motor delay, abnormal tone, and posture.100 Generally, DM, June 2010

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delayed or atypical motor development manifests earlier than other domains of development. Because there is a range of periods during which infants achieve typical milestones, the most common cause of apparent motor delay is a normal variation or maturational lag.94-96 Clinical presentation and features of infants and children with CP may vary depending on its type and severity. Early warning signs of CP are delayed motor milestones, toe walking, persistent fisting, increased rate of growth of head circumference, seizures, irritability, poor suck, handedness before age 2, and scissoring.94 A child over 2 months of age with CP may have poor head control, stiff legs, and scissoring.94,99 A child over 6 months of age may still not have head control, may not sit unsupported, and might preferentially use only 1 extremity.94 A child over 10 months of age might crawl by pushing off with 1 hand and leg while dragging the opposite hand and leg and may not sit without support. A child over 12 months of age might not be crawling and may not stand even with support. A child over 24 months of age may not yet be walking or able to push a toy with wheels. Other causes of predominant motor delay include traumatic insults to the central nervous system damage (kernicterus, birth injury, stroke), metabolic insults, congenital infections; spinal cord disorders (myelomeningocele, Werdnig–Hoffmann syndrome); myopathies; muscular dystrophies; and benign congenital hypotonia.96,99-101 Diagnosis of CP is descriptive, based on findings of history and physical examination.95 Because early signs and symptoms suggestive of CP may resolve in many cases by 2-3 years of age, a definitive diagnosis of CP during infancy is not reliable.95,96 Ongoing clinical observation is therefore essential during the first few years of life to monitor resolution, persistence, or evolution of signs and symptoms. Because CP is nonprogressive, regression of developmental milestones or progression of signs and symptoms should be carefully evaluated to exclude other disorders. Persistence of primitive reflexes, typically present in the first few months of life, is also a sign of CP.96 Primitive reflexes, which are mediated subcortically in the brain stem, are integrated into more complex reactions by 6-8 months of life because of further development of cortical connections.17,18 With the integration of primitive reflexes, the righting, protection, and equilibrium postural reactions emerge, which are necessary for continued sequential acquisition of motor skills (sitting, standing, walking).16-18 Persistence of primitive reflexes—a characteristic sign of CP—therefore prevents or delays age-appropriate typical progression of motor development.96 The neurologic impairment of motor system in children who have CP is 334

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characterized, in order of frequency, by spasticity, dyskinesia, hypotonia, and ataxia.95 Mixed presentations are not uncommon. Hypotonia, with or without associated spasticity— generally truncal hypotonia and spasticity of extremities, are also seen.95,96 In most cases of CP, no cause is identified. However, it can be argued that an etiologic evaluation may have a role in some cases to identify other disorders that may be treatable—for example, dopa-responsive dystonia, which responds dramatically to dopamine supplementation.101 In addition to motor impairment and abnormal tone, loss of motor skills or the presence of associated symptoms such as unexplained hypoglycemia, recurrent vomiting, or progressively worsening seizures suggests inborn errors of metabolism.99,101 In the presence of a family history of unexplained neurologic symptoms or infant deaths, the child should be investigated for a possible metabolic disorder. Magnetic resonance imaging (MRI), which shows an abnormality in approximately 90% of cases of CP, is the neurologic study of choice in the evaluation of CP.100,101 The reported abnormalities on MRI in children with CP include major and minor malformations of the brain, in utero strokes, and white matter loss.100,101 A finding of periventricular leukomalacia has been strongly correlated with development of CP in very low birth weight infants.95-98

Management Principles Management of children and adults who have CP requires participation of multiple disciplines in a long-term, coordinated manner.102 The PCP plays the most critical role in early diagnosis and facilitating and coordinating such care. In addition the PCP plays a role in health maintenance, preventive care, psychosocial care, and management of associated medical conditions (Table 17).96,101-105 Most associated medical conditions in persons who have CP are treated similarly to persons without CP; however, challenges include communication, a need for high index of suspicion to recognize problems early, and often atypical clinical presentations. Also, it is important to recognize that many age-related changes and diseases occur early in persons with CP. Management of orthopedic conditions and secondary deformities (Table 18) is important.106-109 Assistive technology plays an important role in the management of persons who have CP and other DD.110-112 Physicians play an essential role in the determination of the need for and ordering assistive technology, some of which are expensive. According to the IDEA, the term “assistive technology device” means any item, piece of equipment, or DM, June 2010

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TABLE 17. Conditions associated with cerebral palsy Neurologic Pulmonary

Gastrointestinal

Genitourinary Skin Vision (40%)

Hearing Dental Communication Pain from multiple causes

Sleep Endocrine Psychosocial and behavioral Intellectual disability Learning disabilities Musculoskeletal

Seizures (30%-50%) Restrictive lung disease (secondary to scoliosis) Chronic lung disease of infancy Dysphagia (40%) Obstructive sleep apnea Excessive drooling Recurrent aspiration Oral motor dysfunction and feeding difficulties (80%-90%) Poor nutritional status and growth Gastroesophageal reflux disease (25%-80%) Constipation (80%) Bowel incontinence Bladder incontinence Recurrent urinary tract infections Decubitus ulcers Refractive errors; myopia (75%) Strabismus, amblyopia, cataract, nystagmus, optic atrophy, cortical visual impairment Hearing impairment (5%-15%) Malocclusions Speech and language impairment (40%); dysarthria Migraine, corneal abrasions, temporomandibular joint dysfunction, gastroesophageal reflux disease, constipation, hip dislocation, muscle spasms, progressive scoliosis Sleep disturbances (25%) Delayed or precocious puberty ADHD, self-injurious behaviors, depression (20%) Intellectual disability (30%-65%) Learning disabilities Scoliosis, hip dislocation, Patella alta, multiple joint contractures

TABLE 18. Orthopedic conditions in cerebral palsy Foot and ankle Lower extremities Knee

Hip Spine

Equinus, equinovarus, calcaneus deformity, valgus deformity of ankle Rotational deformities Congenital knee flexion contracture, congenital knee hyperextension or dislocation, developmental knee flexion contracture, knee extension contractures, knee instability, and internal derangement Abduction external rotation contracture, hip flexion deformity, hip subluxation, and dislocation Kyphosis, scoliosis, hyperlordosis

product system, whether acquired commercially off the shelf, modified, or customized, that is used to increase, maintain, or improve functional capabilities of a child with a disability. The term does not include a 336

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TABLE 19. Assistive technology services based on the IDEA Functional evaluation of the child in the child’s customary environment Purchasing, leasing, or otherwise providing for the acquisition of assistive technology devices by such child Selecting, designing, fitting, customizing, adapting, applying, maintaining, repairing, or replacing assistive technology devices Coordinating and using other therapies, interventions, or services with assistive technology devices, such as those associated with existing education and rehabilitation plans and programs Training or technical assistance for such child, or, where appropriate, the family of such child Training or technical assistance for professionals (including individuals providing education and rehabilitation services), employers, or other individuals who provide services to, employ, or are otherwise substantially involved in the major life functions of such child

TABLE 20. Examples of assistive technology devices Daily living activities (assistance for activities of hygiene, housekeeping and all other activities) Building structure (lifts and elevators, special ramps, special devices for doors) Communication (various types of augmentative and alternative communication devices, communication boards, talking books) Computers (hardware, software, accessories, other modifications and related special devices) Ambulation and transportation (walking or standing aids, wheelchairs, vehicle lifts) Living conditions (accessible and modified furniture) Orthotics and prosthetics (various types of braces, artificial limbs, other prosthesis) Leisure activities (modified sport equipment, accessible toys) Hearing aids (hearing aids, assistive listening devices, aids for deaf-blind) Vision aids (Braille note takers) (Sources: http://www.nlm.nih.gov, http://www.abledat.com, http://www.ncrel.org. Accessed January 27, 2010.)

medical device that is surgically implanted, or the replacement of such device. The term “assistive technology service” (Table 19) means any service that directly assists a child with a disability in the selection, acquisition, or use of an assistive technology device (Table 20).13

Outcome It is estimated that 1 million persons (approximately 400,000 of whom are adults) in the USA have CP.103 Of the adults who have CP, most are over the age of 45.103 Deaths attributed to CP per se are rare in both children and adults. The type and severity of disabilities in CP affect long-term morbidity and mortality. Ninety-five percent of children with diplegia and 75% of children with quadriplegia survive until the age of 30 years.102 Ninety-five percent of DM, June 2010

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TABLE 21. Secondary musculoskeletal conditions in adults who have cerebral palsy Pain and fatigue (60%-80% report pain; back hip and lower extremities as most common sites) Decline in mobility and function (significant decline and walking and ability to perform activities of daily living) Hip joint dislocation Increased tendonitis and bursitis Lumbar spondylolysis and spondylolisthesis lumbar spinal stenosis Multiple joint contractures Osteoarthritis (occurs early; 27% of young adults with CP) Osteoporosis Patella alta Sarcopenia Scoliosis

children who have CP with mild ID and 65% of children with severe ID survive until the age of 38 years.102 Overall survival of all children with CP until the age of 20 years is 90%.102,104 In addition to psychosocial care and the management of associated general medical conditions (Table 15), secondary musculoskeletal conditions (Table 21) are major aspects of management in adults.96,101,102,106,108-115

Myelomeningocele Definition Neural tube defects (NTDs) result from failure of the neurulation, that is, failure of the closure of the neural tube during development of central nervous system as expected between the third and fourth week of in utero development.116,117 Although any segment of spinal level can be affected, 75% of cases involve the lumbosacral level.118 Myelomeningocele is the most severe type of NTD in which there is a defect in the vertebral column through which the meninges and the spinal cord protrude at the level of the defect.117

Epidemiology The prevalence of NTDs varies in different regions of the world.118 In the USA, the incidence of NTDs is 1 in 4000 live births.116,118 In Wales and Ireland, the prevalence is 3-4 times higher, whereas in Africa it is much lower.118 The variability in prevalence rates of NTDs in different regions of the world is believed to be due to a combination of genetic and environmental factors. Lumbar myelomeningocele, which is 3-7 times 338

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TABLE 22. Risk factors for neural tube defects Risk Factor Nutritional

Environmental

Genetic

Physical Maternal Teratogenic

Evidence of Risk Incidence of neural tube defects peaks after famine Seasonal variations Preventive effect of acid in case-controlled and randomized studies East-to-west trend in USA Decreased risk among Irish who migrate to USA Seasonal variations Familial risk 2%-4% recurrence after 1 affected child 11%-15% recurrence after 2 affected children Ethnic differences Prevalence in US populations: Hispanic ⬎ white ⬎ African American Great Britain: highest risk in Celtic population India: highest risk in Sikh population Chromosomal abnormalities Genetic disorders (Waardenburg syndrome; 22p11 microdeletion) Variant form of methylenetetrahydrofolate dehydrogenase (677C-T) Association with maternal fever during pregnancy Association with maternal use of hot tubs or sauna during pregnancy Obesity Diabetes mellitus High vitamin A intake Valproic acid Alcohol

(Used with permission from: Wolraich M et al, editors. Developmental and Behavioral Pediatrics; Evidence and Practice. Philadelphia: Elsevier Saunders, 2008. p. 496, Table 14-10.)

more common in females than in males, accounts for most cases of myelomeningocele.116 Risk factors for NTDs are listed in Table 22.116-119 A significant decrease (50%) in the prevalence of NTDs has been reported over the past 4 decades.118 Some of the reasons believed to have contributed to the decrease in prevalence of NTDs include routine and widespread supplementation with folic acid, prenatal diagnosis and subsequent decision to terminate pregnancy by some couples, and improved nutrition as well as general health of women.116,118

Diagnosis and Clinical Features NTDs can be diagnosed prenatally. Maternal serum alpha-fetoprotein (MSAFP) is measured during the 16th-18th week of pregnancy.116,118 AFP is normally present in fetal cerebrospinal spinal fluid. In the presence of an open NTD, the CSF AFP leaks into the amniotic fluid and enters the maternal circulation. Measurement of MSAFP is used as a screening test to detect the presence of open NTDs. A positive MSAFP screen is DM, June 2010

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followed by a high-resolution ultrasonography to detect fetal anatomic anomalies suggestive of NTDs. If fetal anomalies are detected, an amniocentesis is performed. A diagnosis of NTD is made by the presence of acetylcholinesterase and AFP in the amniotic fluid in combination with anomalies detected on ultrasonography. Chromosomal analysis of the amniotic fluid is performed to exclude any chromosomal syndromes associated with NTDs. Prenatal diagnosis is helpful to guide the parental decision to carry on with the pregnancy, and for the team of physicians to anticipate and plan for medical complications associated with delivery and neonatal care of the infant with NTD. The primary neurologic manifestations in infants and children who have mylelomeningocele are owing to the motor and sensory loss, Chiari Type 2 malformation, and hydrocephalus.118-121 Generally, the motor and sensory function is lost below the level of the lesion in the spinal cord. However, such a loss is neither uniform nor complete in all cases. Therefore, predicting the patient’s functional abilities, such as walking, based primarily on the anatomic level of lesion is often unreliable.118,122 Functional abilities are often affected by associated and secondary conditions. Sensory loss involving external genitalia and anus is found in most persons who have myelomeningocele. Chiari Type 2 malformation is present in almost all cases of myelomeningocele. Downward displacement of the brainstem and portion of the cerebellum through the foramen magnum can result in spinal cord compression in Chiari Type 2 malformation.120 The symptoms and signs of spinal cord compression include dysphagia, choking, hoarseness, weak cry, breathholding spells, apnea, bradycardia, disordered breathing during sleep, stiffness in the arms, and opisthotonos.116-121 Older children may also have unsteady gait with frequent falls. Rarely sudden deaths from cardiorespiratory arrest owing to progressive cord compression in Chiari Type 2 malformation have been reported.118 Chiari Type 2 malformation is associated with hydrocephalus in most cases of thoracolumbar myelomeningocele. Signs and symptoms of increased intracranial pressure (ICP) due to progressive hydrocephalus should be recognized and monitored. Hydrocephalus is treated with surgical implantation of a ventriculoperitoneal shunt.120 In infants, signs of a blocked shunt include an increase in head circumference and a tense anterior fontanel.118 In children older than 2 years, because the skull bones are fused, shunt obstruction or malfunction present with signs and symptoms of increased ICP.118 In addition to signs and symptoms of increased ICP, a child with an infected shunt will also have a fever. Signs and symptoms of a blocked shunt are often difficult 340

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to distinguish from those of tethered cord syndrome or cord compression related to Chiari Type 2 malformation. A blocked or infected shunt should be suspected in a patient who develops a change in baseline functions or new neurologic signs and symptoms. Change in behavior, deterioration in academic function, or weakness in extremities can be signs of shunt malfunction. The clinical features in older children, adolescents, and adults also include signs and symptoms of complications and associated and secondary conditions.116,118 The extent of motor and sensory deficits and stability of shunted hydrocephalus are primary factors that influence adult functioning and health.

Management Principles Folic acid, 4 mg d⫺1, supplementation starting before conception and continued through for the first 3 months of the pregnancy reduces the risk for recurrence of NTD by 70%.116 Women who have an NTD or have a first-degree relative with an NTD should also take 4 mg/d around the time of conception. Ongoing management of associated and secondary conditions (Table 23) need PCP working with appropriate subspecialists. Management requires neurosurgical, urologic, and orthopedic interventions.116,118,119,123-126

Outcome Most children who have thoracolumbosacral myelomeningocele survive into adulthood.116,125 This trend requires planning transition of medical care from pediatrics to adult health care systems. Adults need ongoing surveillance for secondary conditions and their management. Overall mortality for a child born with myelomeningocele and who is aggressively treated is approximately 10%-15% with most deaths occurring before 4 years of age.112 Approximately 70% of children who survive have normal intelligence; however, subtle neurocognitive deficits are common.112 Progressive deterioration in renal function is the most significant determinant of mortality in patients who have myelomeningocele.118,125

Dual Diagnosis and Psychopharmacology The reported prevalence rates of psychiatric disorders in the IDs have been quite inconsistent, depending on the studies’ choice of variables, such as subject age (child, adolescent, adult, or elderly), setting (clinical or community), location (family home, residential care, or state hospital), degree of intellectual impairment (mild, moderate, or severe), developmental diagnosis (specific developmental syndrome vs nonspecific etiology), psychiatric diagnosis (specific disorders vs grouped as “mental DM, June 2010

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TABLE 23. Associated and secondary conditions in mylelomeningocele Neurological

Cognitive/behavioral

Urological/renal

Gastrointestinal/nutritional

Skin Endocrine

Cardiovascular

Ophthalmologic

Allergic

Sexual

Arnold–Chiari malformation Hydrocephalus Tethered cord Syringomyelia Seizures Autonomic dysreflexia Intellectual disability Learning disabilities Nonverbal learning disability ADHD Neurogenic bladder Vesicoureteral reflux Hydronephrosis Frequent urinary tract infections Urinary incontinence Urinary retention Secondary chronic kidney disease and failure Nephrolithiasis Neurogenic bowel Bowel incontinence, rectal prolapse Constipation Obesity Pressure sores Ulcers Growth hormone deficiency Precocious puberty Metabolic syndrome Congenital heart disease Secondary hypertension Reduced aerobic capacity Deep venous thrombosis lymphedema Strabismus Esotropia Papilledema Nystagmus Latex Sensitivities to certain foods such as bananas, water chestnuts, avocados, and kiwi fruit Sexual dysfunction in some males

illness”), and evaluation method (chart review, survey, or clinical interview). Another important challenge to the accurate measurement of psychopathology in the IDs is the difficulty in differentiating psychiatric symptoms from the clinical features of the IDs themselves.127 Taking these technical issues into consideration, the rates of some behavioral and emotional disorders do appear to be higher in the IDs than they are in comparison groups. A secondary analysis of data from a 342

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national mental health survey in the UK compared the rates of psychiatric disorders in children (ages 5-15 years) with and without IDs.128 The prevalence of disorders in the ID group vs non-ID group was much higher for any diagnosed disorder (39% vs 8.1%; odds ratio (OR) ⫽ 7.3), any anxiety disorder (8.7% vs 3.6%; OR ⫽ 2.5), any conduct disorder (25.0% vs 4.2%; OR ⫽ 7.6), hyperkinesis (8.7% vs 0.9%; OR ⫽ 10.0), and PDD (7.6% vs 0.1%; OR ⫽ 74.7). An Australian study cross-linked the national databases of adults diagnosed with psychiatric disorders and IDs.129 Of those with IDs, 31.7% had received a psychiatric diagnosis, 3.6% had received a diagnosis of schizophrenia, and 8.4% had received a lifetime diagnosis of psychosis. A PDD diagnosis was also more common in the dual diagnosis group than in the ID-only group. Comparing 2 groups with IDs—1 ages 20-64 years, the other ⱖ65 years—a UK study found that the rates of psychiatric disorders was high in both groups, but that the rate in the elderly group (61.9%) was statistically higher than that in the younger group (43.8%). In addition to an expectedly higher rate of dementia, the older ID group also had higher rates of generalized anxiety disorder and a history of depression. The rates of psychopathology may be higher in individuals with ASDs than in those with IDs without autistic features. A study of ASD children (ages 10-14 years) found that, based on parental report, the 3-month prevalence of any psychiatric disorder was 70.8%, with 41% of the total having 2 or more diagnoses.130 The rates were high for any anxiety or phobic disorder (41.9%), oppositional or conduct disorder (30.0%), and attention-deficit/hyperactivity disorder (ADHD) (28.2%). Given the social difficulties experienced by children with ASDs, it is not surprising that almost 30% were diagnosed with social anxiety disorder. Conversely, depressive disorders were reported as low (1.4%). One possibility for the low rate of depression is that the parents may have been unaware of the symptoms of depression in their children. That was found to be the case in a study from Finland.131 The researchers used standardized behavior checklists to obtain information from adolescents (ages 11-17 years) with Asperger disorder or HFA and from control group adolescents, their respective parents, and only the teachers of the ASD adolescents. Compared with the controls, the subjects with Asperger and HFA had significantly higher self-report scale scores of withdrawn, anxious/ depressed, social problems, thought problems, and attention problems. In terms of parents vs adolescents in the reporting of anxious or depressive symptoms, there was poorer agreement in the ASD group than there was in the control group. The vulnerability to psychopathology in the ASDs is independent of intellectual functioning. A Swedish–French collaboraDM, June 2010

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tive study examined the rates of psychiatric disorders in a group of adults with ASDs and normal intelligence.132 Prevalence rates were high for lifetime diagnoses of mood disorder (53%), anxiety disorder (50%), ADHD (43%), obsessive-compulsive disorder (24%), and chronic tic disorders (20%). Personality disorders were also common, with 62% of the subjects having at least 1 diagnosis, especially the obsessive, avoidant, schizoid, and paranoid types.

Aggression Background. Aggression is not a disorder, per se, but a behavioral symptom of an underlying medical or psychiatric disturbance. It is a common reason for individuals with DD to present to medical and mental health settings. In a community-university collaborative clinic for toddlers with DD, 41% had been referred for temper tantrums and 24% for aggression; final diagnoses included oppositional defiant disorder in 48.1%.133 Although the researchers did not comment on the correlates of the aggression, it is reasonable to assume a connection between oppositional defiant disorder and the aggressive behaviors in some of the children. Aggression remains fairly common into adulthood in people with impaired intellectual functioning. A study from Scotland identified a prevalence of 9.8% for aggression (verbal and physical, toward person and property) in adults with IDs.134 Factors significantly associated with aggressive behaviors were female gender, lower functional ability, out-of-home placement, comorbid ADHD, urinary incontinence, and the absence of DS. Verbal and physical aggression can be seen in individuals with ASDs. A school-based study from Ohio compared teacher and parent ratings of students (average age 9.6 years) with identified PDDs.135 The combined moderate and severe behavioral scores from parents and teachers, respectively, were 9.6% and 14.9% for cruelty/meanness, 11.3% and 11.5% for property destruction, 5.3% (both raters) for physical fights, 9.9% and 14.8% for attacking people, and 4.5% and 7.6% for threatening people. The students with lower adaptive skills scored higher on the conduct problems and hyperactivity subscales; there were no gender effects identified. In a study of children and adolescents with ASDs, recruited from clinical and community settings, behavioral ratings were made by the parents or other caregivers.136 Aggression toward others was reported in 50.0% (severe in 10.2%), yelling, or shouting, at others in 44.3% (10.8%), property destruction in 42.6% (13.6%), throwing objects at others in 36.9% (7.4%), kicking objects in 35.8% (10.2%), and pulling others’ hair in 14.8% (4.5%). Adults in the autistic spectrum also demonstrate high levels of aggressive behavior. In a study of adults in a residential setting, the staff rated the residents in 344

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percentages with problematic aggression and/or destruction.86 The autistic disorder group scored highest (21.5%), followed by the PDD-NOS group (12.5%), and the ID-only group (9.5%). Psychopharmacology. The use of psychotropic agents for aggressive behaviors in the DD population assumes that specific medical and psychiatric conditions have been identified and properly treated. There have been many reports on medication trials, from single-case studies to randomized, controlled trials (RCTs), for “challenging behaviors” in the DD and ASDs. Aggression is a common behavior that is subsumed under the “challenging” category. Although psychotropic medications are often used to treat— or merely control—aggressive behaviors in those with DD, there are little objective data to support their use.137 Antipsychotic agents, especially the newer atypical antipsychotics (AAs), are the most commonly used psychotropic drugs for aggression in disabled populations. A recent RCT compared the typical antipsychotic haloperidol, the AA risperidone, and a placebo and their effects on aggression in adults with IDs.138 The results showed dramatic reductions in aggressive behaviors with all 3 treatments, with the greatest reduction seen using placebo. Despite the lack of evidence-based guidelines, there are practical guidelines for the use of antipsychotic agents to treat aggression in adults with IDs.139 In cases of severe and persistent aggression nonresponsive to behavioral interventions, a trial of an AA (especially risperidone) may be warranted. Once the patient is stable, the recommendation is to slowly reduce the AA dosage to the lowest effective amount, with the ideal goal to be off the AA completely. There are better data on the treatment of aggression in autistic disorder, especially in children and adolescents. A review of treatment studies found that risperidone and methylphenidate demonstrated efficacy in the reduction of aggressive behaviors.140 Risperidone is currently approved in the USA for the treatment of irritability (including aggression toward others) associated with autistic disorder in the 5- to 16-year-old age group and should be considered for use in appropriate adults with similar problems. The use of methylphenidate will be discussed below related to ADHD.

Self-Injurious Behavior Background. Similar to aggression, self-injurious behavior (SIB) is not a diagnosis; rather, it is an external expression of internal physical or emotional distress. Individuals with IDs who engage in SIB will usually come to the attention of emergency medical and mental health clinicians. So-called potential SIBs, that involve self-directed, noninjurious hitting, poking, or biting, occur early in children with IDs. A UK study of DM, June 2010

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intellectually disabled students, under age 11 years and in special schools, found a 3-month incidence of potential SIBs of 3% and a prevalence of 25%.141 A study from Scotland found a point prevalence of 4.9% for SIBs in adults (ⱖ16 years) with IDs.142 Factors significantly associated with self-injury were lower functional ability, out-of-home placement, comorbid ADHD, visual impairment, and the absence of DS. Individuals in the autistic spectrum similarly display SIBs. In the previously cited study of children and adolescents with ASDs recruited from clinical and community settings, the parental/caregiver ratings of SIB were reported as harming self by hitting, pinching, scratching, etc, in 35.8% (severe in 10.8%), mouthing or swallowing objects causing bodily harm in 17.0% (5.1%), and poking himself/herself in the eye in 9.6% (1.1%).136 In another previously cited study of residential adults with either ASDs or IDs, the staff rated SIBs as being highest in the autistic disorder group (20.5%), followed by the PDD-NOS group (13.5%).85 Only 4.25% of the individuals with IDs were reported as having SIBs. Psychopharmacology. As for aggression, psychotropic agents have been used to treat SIBs in individuals with DD, even in the absence of other psychiatric disorders. There are mixed results in the use of the AAs for this purpose. A 12-week, open-label study of risperidone in adults with IDs (moderate to profound impairment) demonstrated decreased SIB and aggression, and improved quality of life, throughout the duration of the study.143 In another study, adults with IDs (also with moderate to profound impairment) on typical antipsychotic medications were tapered down on or off those agents, and concurrently were started on AAs (74% on risperidone, 23% on olanzapine, and 3% on quetiapine).144 The follow-up was for at least 11 months, during which time there was a significant decrease in aggressive acts in the aggression-only group. There were no significant changes in the combined aggression-SIB group or in the SIB-only group. One possible confounder in this study is that 55% of the subjects also had ASDs. At this time a general recommendation for the use of AAs to treat SIB cannot be made; however, it may be a treatment option in select individual patients, especially if behavioral methods have been ineffective.

Attention-Deficit/Hyperactivity Disorder Background. The classic symptoms of ADHD are frequently seen in individuals with DD. A Canadian study of teens (ages 14-20 years) with IDs (IQ ⱕ75) compared 2 groups for the presence of ADHD symptoms.145 In the ID ⫹ autism group a significantly greater number of subjects scored high on inattention, hyperactivity, and/or impulsivity 346

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when compared with the subjects in the ID-only group. Diagnostic criteria for ADHD were met by 22.6% in the combined group vs 6.5% in the ID-only group. In a group of older adults (average age 41.4 years) with severe to profound IDs, 55% met criteria for ADHD, inattentive type, and 15% met criteria for ADHD, hyperactive-impulsive type.146 A retrospective chart review of children (average age 8.5 years) with autistic disorder or PDD-NOS, and no IDs (mean full-scale IQ ⫽ 86.15), was carried out to determine the rate of ADHD in that population.147 The data were consistent with 26% meeting diagnostic criteria for ADHD, combined type, and 33% meeting diagnostic criteria for ADHD, inattentive type. Psychopharmacology. The medications used to treat ADHD in the IDs and/or ASDs are the same as those used to treat ADHD in developmentally normal populations, with most studies focusing on the stimulant methylphenidate.148,149 The Research Units on Pediatric Psychopharmacology (RUPP) study found the response to stimulants in patients (ages 5-14 years) with ADHD comorbid with PDDs (49%) to be less than the response seen in typically developing patients (70%-80%).150 Given the 18% dropout rate due to adverse events, dosing of methylphenidate should follow the “start low, go slow” precept and patients should be monitored closely for side effects, including irritability. For patients with ADHD comorbid with ASDs, who do not tolerate or respond to stimulant medications, atomoxetine may be a viable alternative medication, although it also shows a lower response rate in ASD ⫹ ADHD patients.151 Atomoxetine also works less well for inattention than it does for hyperactivity or impulsivity.151

Mood Disorders Background. The prevalence data on depression in individuals with DD have been inconsistent, likely due to different selection criteria (eg, level of impairment) being used. A chart review study from a specialized program for children and adolescents (ages 3.2-19.4 years; mean ⫽ 9 years) with DD found significantly higher rates of depressive disorders in the groups with borderline (17%) and mild (28%) intellectual impairment when compared with the disabled, but intellectually average group.152 A study from Scotland, using diagnostic criteria specifically for adults (ⱖ16 years) with IDs, found a point prevalence of 3.8% for depression, 0.6% for current mania, and 1.0% for bipolar disorder in remission.153 The rate of depression was similar to that seen in the general population and may have been lower due to the high number of subjects on anticonvulsant mood stabilizers; however, that would not explain the 2 times greater prevalence of bipolar disorder in the sample. DM, June 2010

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The relationship between the ASDs and mood disorders appears to be independent of the level of intellectual functioning. A Canadian group used parental questionnaires to evaluate children (ages 9-14 years) with either Asperger disorder or HFA approximately 6 years after initial diagnoses.154 Baseline IQs were above the cutoff level for intellectual impairment. Clinically relevant scores (ie, 2 standard deviations above the normal population mean) for depression were met in 16.9% of the children with ASDs. The researchers consider the possibility of underestimating the prevalence of the problem secondary to the lack of a child interview component. The prevalence of depression in adults with ASDs is underresearched; nonetheless, it may be as high as 30%-40% in Asperger disorder.155 The prevalence of bipolar disorder in the ASDs was assessed in a Swedish study that evaluated adults who had been diagnosed with ASDs in childhood.156 Regarding bipolar disorder with psychotic features, no cases were identified in those with autistic disorder but were found in 6% of Asperger subjects and in 9% of those with “atypical” autism. Psychopharmacology. The treatment of depression in adults with DD has been addressed in consensus guidelines.157 The recommendation for the pharmacotherapy of depression is to begin with a selective serotonin reuptake inhibitor antidepressant, followed by a trial of a second selective serotonin reuptake inhibitor if the first agent is ineffective. These recommendations are reasonable to follow, as well, for the treatment of depression in children and adolescents with DD. All medications should be started at doses even lower than the lowest doses recommended for depressed individuals without DD. The treatment of bipolar disorder in adults with DD, per the above noted consensus guidelines, is more complex. The choice of agent(s) will depend on the phase of illness. For example, in classic (ie, euphoric) mania, either divalproex or lithium, with or without an AA, is indicated, whereas in mixed, dysphoric, or rapid cycling mania, the choice would be divalproex, with or without an AA. In a literature review of medications for bipolar disorder in children and adolescents with DD, there was fair evidence for the use of lithium for manic symptoms.158 In addition, valproic acid may be considered for patients with concomitant electroencephalographic abnormalities; carbamazepine can be used as an adjunctive agent, and the AAs may also be considered as adjuncts in treatment.

Anxiety Disorders Background. A previously cited Canadian study of children (ages 9-14 years) with Asperger’s disorder or HFA, and with baseline IQs above the cutoff level for intellectual impairment, found that the parents rated 348

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13.6% as being overanxious and 8.5% as having separation anxiety.154 A Dutch study also found separation anxiety disorder in 8.5% of children with PDD-NOS.87 The most common anxiety disorders were simple phobias in 38.3% and social phobia in 11.7%. Overall, 55.3% of the children with PDD-NOS had at least 1 anxiety disorder. Adults with ASDs also endorse symptoms of anxiety. A study from the UK compared the rates of anxiety disorders in a group of adults with autistic disorder to those in a group of adults with IDs.159 The results showed that the autism group had significantly higher scores on panic/agoraphobia, separation anxiety, obsessive-compulsive disorder, and generalized anxiety disorder. Individuals with IDs are at risk for developing anxiety disorders, even in the absence of comorbid ASDs. As was described in the introduction to this section on psychopathology, data from a mental health survey in the UK compared the rates of psychiatric disorders in children (ages 5-15 years) with and without IDs.128 The prevalence of having any anxiety disorder was much higher in the ID group vs non-ID group (8.7% vs 3.6%; OR ⫽ 2.5). Individual anxiety disorders in the ID group had OR values from 1.7 for obsessive-compulsive disorder to 6.4 for agoraphobia. A study from Australia analyzed the data from a national survey of adults (ages 15-64 years) with IDs.160 The results identified 14% of the subjects with anxiety disorders that were chronic (ie, for at least 6 months) and caused functional impairments in addition to those caused by the IDs themselves. Individual anxiety disorders were not specified. Psychopharmacology. Psychotropic agents are commonly used to treat anxiety in patients with DD, a practice that is based on information derived from mostly uncontrolled studies. Keeping that limitation in mind, there is some evidence that serotonergic antidepressants (such as citalopram, mirtazapine, and fluvoxamine), buspirone, and risperidone can effectively reduce the symptoms of anxiety in the developmentally disabled population.161 A class of medications to limit, or avoid, use of are the benzodiazepines (BZPs). An extensive review of the use of BZPs in individuals with IDs found that behavioral side effects occurred in 17.4% of subjects for whom the medications were prescribed for behavioral or psychiatric indications.162 The 3 most common BZP-related behavioral/emotional disturbances found were aggression, irritability, and hyperactivity.

Psychotic Disorders Background. An extensive review of the medical literature found 62 congenital/genetic disorders that are associated with psychosis.163 Of that DM, June 2010

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group, 17 disorders (27%) are also associated with intellectual impairment, with the most commonly encountered diagnoses being autistic disorder, DS, fragile X syndrome, phenylketonuria, and velocardiofacial syndrome. Unfortunately, the presence of autistic symptoms complicates the identification of psychotic symptoms, as there are similarities between the 2 symptom clusters.164 The diagnosis of psychosis can also be difficult in individuals with IDs, even in the absence of autistic symptoms. For example, a study of 21 individuals with comorbid IDs and psychotic disorders (diagnosed before age 18 years) found at 2-year follow-up that 13 (62%) no longer had psychotic symptoms.165 A 2-year follow-up study of 1023 adults with IDs found a point prevalence for psychosis of 2.6%-4.4% and a 2-year incidence of 1.4%, of which one third were first-time episodes.166 The expected incidence of new-onset psychosis in those with IDs was calculated to be 10 times greater than in the general population. Psychopharmacology. Investigations of the AAs in DD and ASDs have almost exclusively focused on their use for behavioral disturbances. The consensus guidelines for the treatment of psychiatric disorders in individuals with IDs do recommend, for psychosis, either risperidone or olanzapine as first-line agents, followed by quetiapine as a second-line agent.157 Risperidone was rated a first-line treatment by over 90% of the experts surveyed, based in large part on the RCTs of its use in the DD and ASDs. One concern related to the use of AAs in the DD population is the promotion of weight gain, hyperglycemia, and hyperlipidemia. A study in adults with DD found that the metabolic changes associated with the AAs are not inevitable, provided that patients are closely monitored, their diets are controlled, and exercise regimens are initiated.167

Sexuality and Gynecologic Care Sexuality is a complex phenomenon that involves intricate interactions between the individual’s biological sex, core identity (sense of maleness or femaleness), and gender role behavior (nonsexual as well as sexual).168 Sexuality continues to be a core and profound component of humanity in which human beings need other humans. This capacity for giving and receiving love remains throughout life. The success or failure encountered by children, adolescents, and adults with regard to their sexual system development significantly contributes to the potential success or failure of their appropriate success in living across the lifespan. A common myth among parents and society in general about persons with disabilities or chronic illness is that these individuals are or should be asexual, that they suppress their sexual needs because of their 350

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disability, are not subject to sexual abuse, and do not require comprehensive sexuality education.168-172 Patients of all ages, parents of pediatric patients, and clinicians must be educated that such concepts are not true and that all human beings, whether healthy or not, are sexual human beings and need comprehensive sexuality education and sexuality management.171-178 For example, parents and clinicians must understand that normal development of adolescence implies that youth must learn to emancipate from parents and develop a normal sense of self-identify within the reality of their cognitive abilities. Youth must learn to understand who they are as functional and sexual human beings.

Psychologic Effects of Disability on Sexuality Sexual adequacy and sexual activity are often altered by disability and physical illness.168-179 The timing of pubertal changes can normally vary considerably and such timing can impact youth considerably in their developing a sense of sexual intimacy.173 Some problems can also cause a delay in maturation, whether from a disorder (as in the Prader–Willi syndrome with development of a small penis and cryptorchidism in males or delayed puberty in females) or medications (as corticosteroids) used in treatment of medical conditions. The development of hypogonadism (as noted in some with DS or Prader–Willi syndrome) has major effects on these specific youth and adults as well. On the other hand, puberty may be early in many conditions—CP, hydrocephalus, obesity, Williams syndrome, meningomyelocele.168,173 Early puberty that is a variant of normal or due to disability or disorder may thrust the precocious child into issues of middle adolescence and beyond before s/he and parents are prepared. For example, sexuality issues become more developed in middle adolescence often with sexual experimentation taking place. Sexual adequacy for adolescent girls may be measured in physical attractiveness.168 Unattractive physical features caused by a disease process or required medical treatment often pose a severe threat to self-esteem, sometimes resulting in promiscuous attempts to prove one’s femininity and normalcy, leading to unwanted pregnancy and sexually transmitted infections (STIs). To reduce undesirable physical manifestations of the disease process or treatment sequelae, the physician may need to schedule additional appointments to control medication, and when possible, explore alternative means of treatment. Cosmetic surgery may be a viable and important option in this regard for adolescents or adults with orthopedic and other defects. In adolescent or adult females, serious chronic illness or disability can predispose her to a greater risk of pregnancy than others with less serious DM, June 2010

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TABLE 24. Data for sexual behavior of persons, 10-24 years of age in the United States, 2002200719

745,000 Pregnancies in 2004 in females under age 20 16,000 Females aged 10-14 years became pregnancy in 2004 Nearly 18,000 females and males 10-14 years of age had reported STDs in 2006 22,000 persons aged 10-24 years in 33 states with HIV/AIDS in 2006 One million persons aged 10-24 years with chlamydia, gonorrhea, or syphilis 25% of females aged 15-19 years and 45% of females aged 20-24 years had HPV in 20032004 105,000 Females aged 10-24 years had hospital emergency department visit for nonfatal sexual assault injury during 2004-2006

illness or disability. Pregnancy may be consciously or unconsciously viewed by these youth or adults as necessary to prove that they are normal and may be part of a mourning process seen with acceptance of illness or disability.169,174 However, adolescents or adults with disability or chronic illness do not inevitably exhibit psychopathology, increased anxiety, or lowered selfesteem compared with their healthy peers. Sexual interest and sexual activity in persons who have DD should be assumed to parallel such interest and behavior as seen in healthy peers, for often such is the case. These individuals may become involved in such behavior as masturbation, oral sex, vaginal sex, same-sex behavior, and others. Research notes that youth with disabilities and chronic illness are also sexual human beings and are involved to varying extents in coital behavior, sometimes at rates similar to or even greater than that seen in their healthy peers.168,169,176 Those with disabilities or chronic illness that is not easily “visible” may have coital rates higher than seen in those with “visible” defects or illness.168,176 In any event, the normal need of all humans for sexual intimacy should not be ignored by clinicians or parents, and thus, appropriate sexuality education is vital for them. Consequences of limited sexuality knowledge may include sexual abuse, sexually transmitted diseases, unwanted pregnancy, marital dysfunction, and sexual dysfunction.180 Table 24 reviews reproductive reality for persons aged 10-24 years from 2002 to 2007 in the USA.181 Sex education should include issues of marriage, childbearing, and parenting for all individuals. Those with DD wish to have the same goals as most adults including the ability to work as well as the joys of marriage and parenthood.182 Appropriate gynecologic care for females with disabilities is also important, as considered later in this article. 352

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Sexual Abuse Sexual abuse is an unfortunate but common situation noted with many children, youth, and adults. Although the concept of sexual consent is a complex and legal issue in cognitively impaired individuals, sexual abuse should be prevented for all humans.183 People with ID and other DD are at increased risk for being involved with violence including abuse, both physical and sexual.7,22-30,174,184-192 Three million cases of abuse are reported annually in individuals under age 18 whether disabled or not, and abuse cases are typically divided into neglect (53%), physical abuse (26%), sexual abuse (14%), and emotional abuse (5%).168 The 2007 Centers for Disease and Prevention Youth Risk Surveillance Survey noted that 9.9% of 15-19 year olds have been hit, slapped, or physically hurt by their boy- or girlfriends with a prevalence as high as 15.7%, and 7.8% were forced to have sex.192 The incidence of sexual abuse is especially increased in females with mild mental retardation and/or physical disabilities vs normal peers.168,174 Incest represents approximately 40% of reported sexual assault and can involve parents, siblings, and other relatives. One survey noted that 5 of every 1000 college females reported being victims of incest by their father.193 In the classic Weinberg study of 103 incest victims, 78% involved father– daughter assault, 18% involved brother–sister sexual behavior, 1% was mother–son assault, and 3% involved victimization by more than 1 person.194 The high divorce rates noted in contemporary society leads to a changing scene of stepparents, live-in-lovers of divorced parents, and changing sex partners, fueling the incidence of sexual assault on the children and adolescents in the home. Those with DD are at increased risk in some families for incest. The consequences of such sexual assault are many including those listed in Table 25.185,195,196 Also, the result of significant family chaos includes an increase in individuals, including those with intellectual and DD, who become sexual offenders or predators.197,198

Sexuality Education Comprehensive sexuality education is the key, as noted, that is directed at the specific patient of all ages.168,199 For example, discussion of masturbation can be directed by the clinician to the parents of young children, children, and youth. It can be taught that masturbation is a very common aspect of normal human sexuality and genital self-stimulation for pleasure is practiced by most adults in some manner. Thus, parents DM, June 2010

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TABLE 25. Consequences of sexual assault Chronic drug abuse Chronic syncope Depression and other mental health disorders Eating disorders Enuresis Excessive masturbation Juvenile delinquency and other youth violence Juvenile prostitution Psychosomatic disturbances (chronic headaches or abdominal pain) Persistent hyperventilation syndrome Pregnancy Refractory seizure disorders Runaway behavior Severe parent–child/youth conflicts School failure and dropout behavior Sexually transmitted diseases Sexual dysfunction Sleep disturbances Suicide attempts and completions

can be reassured about the normalcy of masturbation and that harmful effects do not occur. Genital self-stimulation in children, youth, or adults with DD may also result from diaper dermatitis, pinworm infection, tight clothes, nonspecific pruritus, phimosis, or other medical conditions. Masturbation has been recommended by some therapists to help relieve sexual tension in adults. However, youth should be warned about asexual asphyxia syndrome, in which an adolescent or young adult seeks an intense orgasm by partially hanging while masturbating; this practice can lead to considerable harm including death. Clinicians must realize that all persons, including those with DD, are potentially subject to sexual assault or harassment.173,177,200-203 The emotional and psychologic reactions to sexual assault should be understood and comprehensive management provided for these victims.204-206 Prevention of sexual abuse is important and measures include education about sexuality that includes teaching all patients about appropriate touching and self-protection skills. If preventive measures are to have a lasting effect across a lifespan, comprehensive sexual health education for all children and adolescents is crucial to this goal of prevention.207-209 All persons, including those with DD, should have access to accurate information about sexuality, contraception, sexually transmitted diseases, substance abuse, and the myriad of topics relating to healthy behavior. Information about sexuality should be 354

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directed to the comprehension and specific needs of the adolescent or adult patient.169,177,207,210-212 Patients with disabilities often have questions about their sexual behavior and clinicians can inquire about these questions while providing accurate, unbiased information without embarrassment. Ignoring these needs of adolescents or adults because of the presence of DD is to be avoided on the part of the clinician. The health maintenance examination may be the only opportunity for adolescents to ask about issues related to masturbation, menstruation, sexual activity, reproduction, contraception, and other topics of interest to them.170,213-217 It is understandable that parents often have a difficult time discussing such topics with their children and adolescents and that adolescent or adult patients may have difficulties asking these questions as well. Clinicians can also assess the social skills of their patients with DD and recommend places where such training can occur. The lack of access to age-appropriate peers and lack of access to privacy faced by some persons who have DD can lead to various difficulties. Such youth and adults need to have good social skills and understanding about healthy human relationships to avoid being bullied or victimized at school or even in their home and to be able to avoid unwanted sexual touching and assault.177,211,218,219 It is important to educate adolescents and adults who have DD about the dangers of unwanted sexual overtures and harassment that occurs over the Internet.218

Gynecologic Care Proper gynecologic care for all patients is important, regardless of their levels of physical, mental, or cognitive abilities; these patients should not receive substandard gynecologic or other medical care because neither clinicians nor parents are aware nor appreciate these needs.169,178,182,186,203,219-222 Overall health and longevity in older adults in the USA have improved in the late 20th century and early 21st century in contrast to the early 20th century;223,224 all adults should share in this trend, including those with DD. Unfortunately, persons with disabilities have worse health care status than those without such disabilities.225 Lack of training in residency and physician concern with lack of skills in this area should not compromise patient care and all clinicians should learn to care for patients with disabilities.169,226 Gynecologic needs are similar for all adolescent and adult females but such health care may be more complicated by various factors sometimes seen in those with developmental difficulties, as noted in Table 26.188,203,222,227-231 DM, June 2010

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TABLE 26. Factors complicating gynecologic care in women who have developmental disabilities Increased communication difficulties in those with DD Cognitive limits that may be found in some with DD Increased neurological problems in some with DD (as seizures) Multiple joint complications in some DD patients (ie, deformities, contractures, spasticity, autonomic dysreflexia) Increased presence of other orthopedic disorders (as kyphoscoliosis) Impaired sitting position in some with DD, such as decubitus ulcers Increased nutritional issues in some with DD, such as feeding tubes or gastroesophageal reflux Others: lack of knowledge on part of parents or clinicians regarding such care Parents’ or clinicians’ refusal to provide such care

Gynecologic care should include a complete gynecologic history, physical examination, and selected laboratory testing.232 It includes education of the female patient in appropriate developmental language and/or the caregiver (when the patient is unable to physically, cognitively, or mentally deal with these issues). Education should stress the need for periodic examinations that may include gynecologic evaluations, breast examinations by the patient (or the caregiver if necessary), and options related to menstrual and, when appropriate, contraception.188,203 A careful menstrual history should be obtained and should not be ignored simply because the patient has a DD. The history includes menarche (age of menstrual period onset) as well as characteristics of the menstrual flow such as its frequency, duration, and presence of menstrual cramps.231,232 Using a menstrual calendar is useful in pinpointing normal adolescent variations in menstrual patterns vs overt menstrual disorders (ie, dysmenorrheal, premenstrual syndrome, or menstrually related moodiness or agitation).168,203,231,232 Plotting mood or behavior changes may even show cyclic behaviors before the onset of menses. The physical and behavioral changes that are present must be differentiated from a variety of gynecologic and urological disorders.231 Older adult females may have symptoms of menopause (Table 27) that occurs between 35 and 59 years of age with an average between 50 and 52 years.233,234 Clinicians can look for clues to discomfort and disease in patients who have difficulty expressing themselves.188,203,228 For example, crying on urination with foul-smelling urine suggests a urinary tract infection while a fever without clear cause may also represent a urinary tract infection. Excessive vulvar irritation may be due to masturbation, while a vaginal discharge with history of frequent antibiotic use suggests Candida albicans vaginitis. Vaginal discharge in females may be due to a variety of causes including nonspecific vulvovaginitis, foreign body vaginitis, 356

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TABLE 27. Symptoms of menopause Backaches Bloating Hair thinning Hot flashes Palpitations Pain (ie, headaches, joint pain) Pruritus Sleep difficulties (ie, insomnia) Sweating Weight gain

allergic vulvovaginitis, or specific vulvovaginitis (ie, bacteria (Streptococcus, Shigella), fungus (C. albicans), parasites (Trichomonas vaginalis), Phthirius pubis, or viruses (herpes simplex simples, cytomegalovirus, others)). Pruritus ani may be due to infection with pinworms (Enterobius vermicularis).235 If T. vaginalis is detected in the urine or on a Papanicolaou (Pap) smear, coital behavior and possible sexual abuse should be suspected. If the adolescent female is not sexually active (voluntary or involuntary), a pelvic examination is not necessary unless there is a history of sexual assault or gynecologic symptomatology.188,203 A pelvic examination is not needed initially if contraception is requested and the female is not sexually active. Techniques for a pelvic examination for difficult patients (ie, those with cognitive limitations, contractures, others) are described in the literature.203,227-236 These techniques include various position adjustments (as frog-leg position, V-position, M-position, or leg elevation without hip abduction), use of the Huffman-Graves speculum (long, narrow type) or no speculum, Q-Tip Pap smear, one-finger bimanual examination, or a rectoabdominal examination.168,169,203 An examination under sedation may be needed in some situations.237 Radiologic evaluation with a pelvic ultrasound, computed tomography scan, or MRI may be necessary as well. Mammography screening remains controversial and current guidelines suggest screening starting at age 50 while continuing to age 74 years of age and overrides previous guidelines suggesting screening starting at age 40 years of age.238,239 The result of not providing or offering routine mammography screening to all females aged 40-49 years is the death of some women from breast cancer vs saving many more females from unnecessary expense, fear or anxiety, pain, and surgery.239 Periodic Pap smears have been recommended by 3 years from sexarche (onset of coital activity) or by age 21 if the patient remains virginal to DM, June 2010

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screen for abnormal cervical cytology that may eventually lead to cervical cancer.240 However, recent guidelines issued by the American College of Obstetricians and Gynecologists now recommend no Pap smear screening for females under age 21 years of age, every 2-year screening between 20 and 29 years of age, and every 3-year screen suggested between ages 30 and 65-70 years of age.241 This is based on the concept that cervical cancer is very rare in the adolescent female and Pap smear screening has not lowered this rate despite the past 3 decades of such screening in young females. CIN 1 (cervical intraepithelial neoplasia Grade 1) is the most commonly found lesion and reflects acute human papillomavirus (HPV) infection; direct treatment is not recommended. Young females with CIN 2 usually noted spontaneous regression; treatment is not recommended. CIN 3 is rare in young females and typically persists for 10 years or more before becoming invasive. Pap smear techniques may be conventional or liquid-based. In the liquid-based Pap smear one uses a cervical broom and places the specimen in a liquid container; in the convention Pap smear one uses a spatula and cytobrush or cervical broom and then smears the specimen on a glass slide after which a spray or liquid fixative is applied.240 The liquid-based technique may be helpful in increasing the adequacy of the specimen even when visualization of the cervix is difficult or impossible. Other advantages of the liquid-based Pap smear include increased sensitivity (vs the conventional Pap smear), reduced extraneous material on the smear, and the ability to test for certain STI microbes, such as Chlamydia trachomatis, Neisseria gonorrhoeae, and the HPV. Vaccination of females (ages 8-26 years of age) with the HPV vaccine is recommended to reduce their risk for cervical cancer. Screening for STDs in sexually active youth is important, as is annual C. trachomatis screening in sexually active females under the age of 26 years and in those over 26 years who change sexual partners. Instruction in proper hygiene may be an issue for some patients with cognitive impairment, while various methods are used to control problematic menstruation and related hygiene issues, including behavioral modification training, hormonal management (combined oral contraceptives, Depo-medroxy-progesterone acetate, others), or gynecologic surgery (endometrial ablation or hysterectomy).169,203,227,229 In patients with significant cognitive limitations, education may be confined to hygiene improvement and prevention of sex abuse. Any adolescent or adult female may have breast and menstrual disorders (ie, amenorrhea, abnormal menstrual bleeding (ie, dysfunctional uterine bleeding), dysmenorrhea, premenstrual tension syndrome, others), 358

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TABLE 28. Screening in aging adults with disabilities Cardiovascular disorders Chronic obstructive pulmonary disease Cancer (ie, breast, cervix, colon, prostate, skin, others) Declining cognitive abilities (ie, dementia) Diabetes mellitus Lipid screening Hearing and/or vision (glaucoma) impairments Gastroesophageal refux Immunization status Malnutrition Mental health disorders (ie, depression, anxiety, other) Obesity Osteoarthritis Osteoporosis Periodontal disease Podiatric problems Sexually transmitted disorders (ie, Chlamydia trachomatis, HIV, other) Spinal stenosis Others

and others. They should be carefully evaluated and managed.169,203,227-231 Some conditions lead to increased incidence of menstrual disorders. For example, those with trisomy 21 are often associated with thyroid disorders that may lead to amenorrhea or dysfunctional uterine bleeding. Turner’s syndrome should always be considered in the differential diagnosis of the adolescent female with short stature and amenorrhea due to premature ovarian failure. Patients with DD may be placed on various medications that lead to menstrual dysfunction; these mediations include anticonvulsants and neuroleptics.242 Females who are perimenopausal or postmenopausal need continuous medical care as per other adults. Some females with DD have an increased risk for premature menopause as, for example, in spontaneous 46,XX primary ovarian insufficiency reported in females with the Fragile Z-associated disorders, galactosemia, Bloom’s syndrome, Werner’s syndrome, ataxia-telangiectasia, and others.243 Females with DD may be at increased risk for osteoporosis due to sedentary lifestyle, tobacco or alcohol use, low calcium or vitamin D intake, and complications of medications (ie, steroids, anticonvulsants, others). Some are at increased risk for early dementia, as noted in DS. Encouragement of regular physical exercise as appropriate is important for all human beings. Vaginal dryness can complicate sexual function. Health screening in all adult males and females is important for various issues as noted in Table 28,233,244-246,247 including evaluation for weight DM, June 2010

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(gain or loss), hypertension, nipple discharge, hirsuitism, osteoporosis, and ovarian failure. If follicular stimulating hormone and leutinizing hormone are elevated, a low estradiol level reflects ovarian failure. Health issues that are important for all adults, such as prevention of tobacco use and obesity development, should be stressed.248 End-of-life issues are important for all humans including aging individuals nearing the end of their lives.246 Sterilization. Sterilization of females or males with disabilities remains a controversial topic and, in general, is not encouraged or lawful.249-255 It is important for clinicians who are considering such a procedure (ie, tubal ligation or vasectomy) be fully knowledgeable of state and national laws in this regard. Premature sterilization of a human being simply because they are deemed handicapped or DD is fraught with complex medicallegal-ethical considerations and discounts the right of every human for sexual fulfillment and even parenthood. Comprehensive sexuality education is critical to reduce unwanted pregnancies and sterilization. Contraception. Contraception should be discussed with sexually active females and those who are not sexually active but have questions in this regard.214-216 Although fertility is affected by some conditions (ie, DS, Turner syndrome), most females are capable of pregnancy. The risks of having multiple partners should be discussed; some females practice “serial” monogamy, in which they feel that having only 1 partner at a time and changing over time will protect them from STIs. Those who are sexually active should be screened for STIs and placed on appropriate contraception if this is desired or accepted.169,188,203,214-216,220,227-231,256-258 Education about emergency contraceptives and use of condoms should also be provided. Barrier contraception and the intravaginal ring may not be the best contraceptive choice for females with DD unless they are motivated to use such methods and have the cognitive as well as physical abilities to use barrier contraception with each coital act or use the ring as directed.214,256-258 Concerns with oral contraceptive agents may include side effects such as thromboembolic events noted with estrogen-containing methods or increased menstrual bleeding or bone mineral loss noted with progestin-only methods.214,215,256-258 Concerns of thromboembolism or bone marrow loss may be especially noted in those with limited mobility such as those who are wheelchair bound.214,215,256-258 There are no data on the use of Implanon for females with DD. The most popular contraceptive method for females with DD is depo-medroxy-progesterone acetate (Depo-Provera) because it is given intramuscularly and can lead to amenorrhea. However, use of DepoProvera must be balanced with the loss of bone marrow density (with 360

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TABLE 29. Sexual dysfunction Dyapareunia (vaginal dryness) Orgasmic dysfunction Erection dysfunction Ejaculation dysfunction (premature, retrograde, or retarded)

potential increase in fractures) that is associated both with this contraceptive agent and with DD in some patients.259,260 Counseling before initiation of contraception with careful follow-up is important. Sexual Dysfunction. The issue of physical sexual expression and reproductive capacity should be addressed during the adolescent and adult years by an informed, sensitive therapist, counselor, or physician. This will help to correct misconceptions about sexuality and provide for healthy sexual functioning. Sexual dysfunction may arise because of lack of proper knowledge about normal sexuality. A variety of sexual dysfunctions (Table 29) may develop in adolescents or adults with disabilities because of the disorder itself, medications needed for management of medical conditions, or complications found in their lives (such as sexual abuse).261,262 Sexual dysfunction may develop in adolescence that continues into adulthood if not corrected. Patients may have visible deformities that may interfere with sexuality expression; these issues include paraplegia, amputations, ostomies, or abnormal genitalia that require special counseling.1 These youth or adults may feel inadequate compared with their “normal” peers and develop various sexual dysfunctions. Performance pressure may predispose to sexual dysfunction in any individual. Chronic illness may create a setting in which actual enjoyment of sexuality is limited, although physical functioning is normal. For example, those with colostomies can be anxious about the odor coming from the ostomy; those with arthritis may be in pain, or those with spinal cord lesions may have painful bed sores. Thus, in considering 1 with sexual dysfunction, evaluation must consider various psychologic and organic factors. Aging may significantly impact sexual function with an increase in dyspareunia due to vaginal dryness or impotence due to erectile dysfunction. The recent development of erectile dysfunction medications and their widespread advertisements by pharmaceutical companies has impacted this issue in males but not females.

Medical Home and Transition Planning Since the USA Surgeon General Conference in 1989, Growing Up and Getting Medical Care: Youth with Special Healthcare Needs, there has DM, June 2010

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been an increasing interest in the need for an organized plan for young adults who have DD to move from child-oriented systems of health care to adult-oriented systems of health care.263-266 Ninety percent of children and youth with special health care needs survive into adulthood. To make this happen, a plan for this process needs to occur before their 18th birthday. Unfortunately, under the current system of health care in the USA, patients who have DD are far less likely to have transition addressed with them by their physician.266-274,275

Medical Home The medical home is an approach to providing comprehensive primary care to all children and adults, especially children and youth with special health care needs.272 Children and youth with special health care needs are defined as “children and youth birth to 21 years of age and have long term, chronic physical, developmental, behavioral or emotional illness or condition. The illness or condition is severe enough to restrict growth, development or ability to engage in usual activities; has been or is likely to be present or persist for 12 months to lifelong; and is of sufficient complexity to require specialized health care, psychologic or educational services of a type or amount beyond that required generally by children” (US Maternal and Child Health Bureau, 1998). The essential partners in the medical home are the patient, the parents or legal guardians, the physician, and the care coordinator. They work together to achieve the maximum potential for the individual.

Transition Planning According to the Society for Adolescent Medicine, transition is the purposeful planned movement of adolescents and young adults with chronic conditions from child-centered to adult-centered care.274 Transition services, as defined in the IDEA, are “a coordinated set of activities for a child with a disability that (a) is designed to be within a results-oriented process, that is focused on improving the academic and functional achievement of the child with a disability to facilitate the child’s movement from school to post-school activities, including post secondary education, vocational education, integrated employment (including supported employment), continuing and adult education, adult services, independent living or community participation, (b) is based on the individual child’s needs, taking into account the child’s strengths, preferences and interests, and (c) includes instruction, related services, community experiences, the development of employment and other 362

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post-school adult living objectives, and, when appropriate, acquisition of daily living skills and functional vocational evaluation.”13 The Consensus Statement on Health Care Transitions for Young Adults with Special Health Care Needs (supported by the American Academy of Pediatrics, American Academy of Family Physicians, American College of Physicians, and American Society of Internal Medicine) recommends having a transition plan in place by the time the adolescent is 14 years old and to update this annually.276 Some young adults may be ready to begin transition when they are 13 years old, whereas others may not be ready until they are 16 or 17 years old. Thus, the transition plan must be individualized. Transition is a process that takes place over time, not as an event, such as transferring medical care from 1 physician to another. Some authors have proposed that transition should begin on the day of diagnosis. The young adult and the family must be involved in the decision process, and physicians and parents should be prepared to let go.277 As with other pediatric chronic disease populations, there are few research studies to support 1 model of care over another for young adults with DD as they transition from pediatric-oriented care to adult-oriented care. Should there be a specific interdisciplinary transition program to facilitate this process or should this process take place in the medical home? With the momentum that is gaining with regard to the patientcentered medical home, this may serve as the initial framework. There is a role for interdisciplinary teams to assist the medical home team in this process, but acquiring funding for such programs is difficult. Because there are so many different disease entities that fall under the category of DD, the medical home will need to start with the general framework for transition and then individualize to meet the needs of the patient. In some cases the medical home team will be treading on new territory and will need to use consensus to develop the care plan that will most likely need to be modified many times. Specific components of transition are outlined in Table 30.

Challenges to Transition Several barriers to successful transition have been identified (Table 31).276-283 Low expectations of individuals who have DD and their social isolation may be the most important barrier. Low expectations could be on the part of the family, the physicians, society, and finally, the patient. By not developing a “life plan (not illness)” the individual is set up for a life of dependency and not 1 for achieving their fullest potential.283 Specific areas that are a challenge to successful transition for individuals DM, June 2010

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TABLE 30. Main components of transition planning Transfer of care from pediatricians/pediatric nurse practitioners/pediatric specialty physicians to adult specialty and primary care physicians and midlevel providers Access to continuous and uninterrupted health insurance coverage for primary and specialty care needs once pediatric coverage terminates Acquisition by the young individual of knowledge and skills necessary to independently manage his or her daily treatment regimen Learning to identify and advocate for accommodations needed to function more effectively in the work or school environment Referral to transition and adult community agencies and resources based on individual needs for services

TABLE 31. Major barriers to successful transition Low expectations and social isolation of individuals with developmental disabilities—most significant factor Difficulty identifying adult primary care and subspecialty providers Adolescent resistance to transition to an adult provider Family resistance to transition to an adult provider Lack of institutional support (time for planning, resources, personnel) Lack of time to address important transition issues Lack of reimbursement for services Difficulty communicating with adult providers

who have DD are preventive health care, finding adult subspecialists, hospital care, and health insurance coverage. Most young people with DD have at least 1 specialist to see if not more. This is a challenge, because of the reluctance of adult specialists to engage in taking care of adults who have DD. Several barriers to this have been identified. Pediatricians may have difficulty accepting that anyone else could take care of their patient as well as they can. Young adults and their parents or caregivers who have known their pediatrician all of their lives are reluctant to move on. Because the underlying disorders are pediatric in nature, adult physicians may not feel adequately prepared to manage them. On the other hand pediatricians may not feel adequately prepared to manage adult disorders in patients who have DD. Where to hospitalize a young adult with DD for inpatient care is another complicated issue. Young adults prefer to be on the adult patient floor, not in pediatric units. They would like to be with peers. Nurses and other staff in the pediatric wards are generally not accustomed to adult patients. The pediatric staff also chose to take care of children and have a child-focused system of caring. From the adult nursing standpoint, they are not used to pediatric disorders such as CP, DS, or autism. They are not used to having the parent being so involved in the patient’s care, because traditionally 364

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adult medical care is patient-focused not family-focused. In the setting of a teaching institution, medical residents may not be adequately experienced in the care of young adults with DD. In the transition plan, the hospital of choice should be decided ahead of time. The care coordinator can help facilitate a visit to the hospital. Education for the nursing staff could be started by asking the nursing staff what their needs are and providing them with information and training. Care plans can be sent to the adult emergency department. During the first hospitalization and perhaps the second, the pediatrician could round with the adult medical team and answer questions about the pediatric condition or how the patient responds to being ill. Inadequate reimbursement for various levels of medical care needed by young adults who have DD is a significant barrier to provision of health care to these individuals. In general, many young adults are uninsured or underinsured. This is not different for young adults who have DD and may in fact be worse for them. Even if they have severe enough impairments to make them unemployable and qualify for Medicaid and Social Security Disability Insurance, this most likely will not be enough to cover the cost of living and medical care. If they do try to work, they may not qualify for medical insurance from Medicaid and Social Security Disability Insurance. They may not be able to work full-time and may not qualify for insurance from their employer. Some states have extended the Title V program to cover certain conditions, such as cystic fibrosis and hemophilia. Advocacy and legislative efforts must continue to address the reimbursement and health insurance coverage for young adults who have DD. In addition to health care, young individuals who have DD, not unlike their peers without DD, experience many transitions as they grow up, in areas of education and training, independent living, and moving toward financial independence. Community living, workplace options, and financial planning are much more complex issues for young individuals who have DD. Independent living depends on the functional abilities and availability and access to support systems for the individual. Similarly, various options for work and employment will vary based on the functional abilities of the individual. A young adult’s competence and ability to manage his or her own finances are important aspects of transition planning. As the individual who has DD approaches the age of majority, issues of guardianship must be addressed.

Concepts of Multiple Discipline Team Care Health care delivery to persons who have DD requires participation and sharing of expertise of multiple medical, social, and psychologic disciDM, June 2010

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TABLE 32. Purported benefits of multiple discipline approaches to medical care Improves quality of care Reduces errors in health care delivery Reduces duplication of services Provides cost-effective care Enhances efficiency of health care delivery Addresses medical as well as psychosocial aspects of care Is more convenient for the patient and family or caregiver Increases patient and family or caregiver satisfaction Promotes development of innovative approaches and solutions to complex problems Meets the mandates of applicable laws Increases collaboration and networking among professionals Enhances individual professional development

plines. Multiple disciplinary approaches have been applied in education and training, service delivery, and research; however, our focus here is on service delivery to persons with DD.284 Teamwork is promoted at all levels of health care delivery with numerous purported benefits (Table 32) of such approaches.284-291 However, research-based evidence for effectiveness and utility of multiple discipline approaches is at best limited and equivocal. The effectiveness of the team approach to delivering patient care varies widely depending on multiple factors.

Teams and Team Processes Katzenbach and Smith defined a team as “a small group of people with complementary skills who are committed to a common purpose, performance goals, and approach for which they are mutually accountable.”292,293 Most teams in the setting of health care delivery have 7-10 members, which lends itself to a more manageable group.294,295 A team with a large number of members who are geographically more dispersed may have the potential for adversely affecting effective functioning of the team. The complementary skills considered essential of team members are interpersonal, functional, decision-making, and problem-solving.294 Professionals who work with children, adolescents, and adults who have DD will find themselves working with many other professionals on various “teams.” These teams are usually composed of practitioners from more than 1 discipline working toward a common goal of providing comprehensive patient care.284,296-301 The composition of the team will vary depending on the medical condition(s) that it is intended to provide services for. For example, a team that serves the health care needs of children and adolescents who have multiple disabilities, predominantly of neuromotor nature (eg, CP), will typically include disciplines listed in 366

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TABLE 33. Members of multiple disability clinic team Patient and his or her caregivers Pediatrician Orthopedic surgeon Orthoptist Physical therapist Occupational therapist Psychiatrist Dentist Dietician Medical social worker Clinical psychologist Behavioral psychologist Pharmacist Nurse Clinic coordinator Neurologist Speech pathologist Audiologist

TABLE 34. Role of team coordinator Schedule clinics, patient appointments, and appropriate staff to be present for the clinic Maintain and implement program/institutional policy and procedures Obtain appropriate medical information and past reports before patient visit Guide patient, family, caregivers, and staff through the clinic process Facilitate referral process Obtain, organize, and distribute the final written reports to appropriate practitioners and agencies Prepare and submit billing information to the billing/accounting department Make phone calls, send reminder letters to patients Work closely with the community and state agencies involved Assist patients/families enroll in special community and state special insurance programs Ensure appropriate interpreters for different languages are available Schedule and facilitate team meeting at the end of the clinic Work with nursing and institutional administrative staff to facilitate smooth operation of the clinic

Table 33. Coordinator of the team or the clinic plays a critical role in the overall implementation and smooth operation of the entire program (Table 34). The effectiveness of teams is largely dependent on how the professionals work with each other to meet the needs of their patients. Depending on the setting, service delivery may occur in a shared place (a clinic) or separate places but is coordinated. Team members are asked to conduct diagnostic assessment, deliver medical care, or evaluate functional needs of the patient (impact of illness or disorder on general health, vision, DM, June 2010

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hearing, mobility, cognition, mental health, social function, academic function). The patient’s (or responsible caregiver’s) ability to access and pay for health care services is also assessed. Each team member puts forth his or her assessment data, with recommendations for interventions. Clinicians who provide therapy generally deliver treatment and report outcomes to the patient, the patient’s pertinent family members, and the team. Members who evaluate functional impact are usually the members who served on the assessment team. Some teams have members who can provide all aspects of care and others have interchangeable members. Three types of teams, namely multidisciplinary, interdisciplinary, and transdisciplinary, are most frequently described in the literature.302-322

Conceptualization of Multiple Discipline Teams Discipline. In standard English language dictionaries a discipline is variously defined as a branch of knowledge, instruction, learning or education, or a field of study or activity.323 Multiple Disciplinary. Choi and Pak suggest that the term multiple disciplines (multiple disciplinary) should be used for a more general situation when the level or nature of involvement and interaction of multiple disciplines in a team are not clearly delineated.285 Unidisciplinary or Intradisciplinary. Satin refers to a unidisciplinary team as team that comprises 2 or more professionals in the same discipline with common skills, training, and language working together.324 Tremendous expansion of knowledge base in different disciplines may necessitate professionals from the same discipline to share their individual expertise within the discipline with others in the same field to accomplish common goals. In that sense unidisciplinary teams are also referred to as intradisciplinary teams. Multidisciplinary. In a multidisciplinary team, each team member completes his or her training-specific assessment, intervention, and evaluation of the patient. Each team member draws on the skills and knowledge from different disciplines but functions within the boundaries of his or her discipline.285,305 The process is thus described as additive.285,305 Choi and Pak give 2 ⫹ 2 ⫽ 4 as a mathematical example, and a salad bowl as a food example to illustrate the concept of multidisciplinarity.285 A multidisciplinary team is typically led by a physician who makes the final decision about the patient’s care. In that sense it is hierarchical. The term multiprofessional team is used more widely in some European countries and Canada to describe a multidisciplinary team. Interdisciplinary. Members in an interdisciplinary team share the responsibility for making the ultimate decision about patient’s care. The 368

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care plan is developed by the whole team and it is the entire team’s responsibility to follow-through on it. The assessment and care plan reflect the integration of expertise from individual disciplines. It is more of a group process. Each member of the team shares his or her expertise with others and the team process is described as highly interactive. The process allows the team to “analyze, synthesize, and harmonize links between disciplines into a coordinated whole.”285,306 Choi and Pak explain interdisciplinarity in mathematical example as 2 ⫹ 2 ⫽ 5, and in food example, a melting pot.285 However, truly interdisciplinary teams are probably few and far between, especially in a traditional medical facility. Interdisciplinary teams probably seem ideal to most members because they may not feel that their expertise is being undermined by 1 discipline. In some Children’s Multiple Specialty Clinics the team is headed by a physician with a specialty in the disorder treated by that clinic. These teams typically coordinate their assessments and treatment. Sometimes the professionals who actually provide the care also participate in the assessment. Transdisciplinary. Soskolne has defined transdisciplinary approaches to human health “as approaches that integrate the natural, social and health sciences in a humanistic context, and in so doing transcend each of their traditional boundaries.”313 Members of a transdisciplinary team think beyond their individual disciplines and work toward formulating a novel solution or perspective to a given problem. Transdisciplinary approaches often lead to the development of entirely new fields of study or knowledge. Choi and Pak view the transdisciplinary approach as holistic and illustrate the concept with a mathematical example of 2 ⫹ 2 ⫽ yellow, and a food example of a cake.285 In a transdisciplinary team, members share skills. There is an acceptance by the individual team member that another team member can do a better job in an area of his or her own expertise (role release).285,310 Team members also acquire new skills and function beyond their discipline (role expansion).285,310 Application of transdisciplinary team approach to delivering health care to children and adolescents who have DD has not been reported. Virtual or Electronic Teams. Widespread use of electronic communication has led to the development of virtual team processes.285,294,325-327 The individual team members can be geographically dispersed, but can work as a team in an interactive, integrated manner toward a common goal. Application and utility of such teamwork in the setting of health care delivery to children and adolescents with DD remains to be established. DM, June 2010

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TABLE 35. Essential factors for developing and maintaining effective teams Open and frequent communication between team members Clearly defined team philosophy A high degree of commitment to team process by its members Autonomy for team members to function within the scope of their expertise Ability of team members to effectively cope with the issues related to service delivery to their patients (especially death and dying) Mutual respect and trust between team members and for the team process itself Effective coordination of workflow

Evolution of Teams Teams may evolve naturally over time when many professionals from different disciplines are involved in delivering health care to the same patient, and begin sharing information. These types of teams are less common and take a long time to establish. More commonly, a team begins with a team leader who then carefully chooses members based on their expertise, discipline, and ability to work in a team setting. The evolution of multiple disciplinary approaches can also be viewed on a continuum; however, more research is needed to explore the concept of continuum of multiple disciplinarity.285,290,291,294

Developing Effective Teams Research on multiple discipline teams confirms the overwhelming importance of clarity, commitment, and close, positive exchanges between team members to promoting successful teamwork.284,296-301 Several factors essential for developing and maintaining effective teams have been described (Table 35).298,328-332 Teams that do not have clear goals, tasks, role delegation, or strong commitment to the team process will be ineffective. One set of researchers offers that the team leadership should not be discipline-specific but should be dependent on the patient’s presenting complaint as well as the ongoing management objectives. Strategies to enhance multiple disciplinary teamwork and barriers to effective team development are summarized in Table 36.328,333

Team Process Within the Context of a Medical Home In March 2007, the American Academy of Family Physicians, American Academy of Pediatrics, American College of Physicians, and American Osteopathic Association formulated and issued a statement on Joint Principles of the Patient-Centered Medical Home, further expanding the original concept of medical home.334 The Joint Principles statement recommends that each patient have a 370

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TABLE 36. Strategies to enhance multiple disciplinary teamwork, summarized in an acronym TEAMWORK

Strategy T

Team

E

Enthusiasm

A

Accessibility

M Motivation

W Workplace

O

Objectives

R

Role

K

Kinship

Promoting the Promoters Good selection of team members Good team leaders Maturity and flexibility of team members Personal commitment of team members

Physical proximity of team members The Internet and e-mail as a supporting platform Incentives

Institutional support and changes in the workplace A common goal and shared vision Clarity and rotation of roles

Communication among team members Constructive comments among team members

Barring the Barriers

The 14 C’s of Teamwork

Avoid poor selection of the disciplines and team members Avoid poor process of team functioning Avoid lack of proper measures to evaluate success of interdisciplinary work Avoid lack of guidelines for multiple authorship in research publications Avoid language problems

Coordination of efforts Conflict management

Avoid insufficient time for the project Avoid insufficient funding for the project Avoid institutional constraints

Contribution (feeling this is being made)

Avoid discipline conflicts Avoid team conflicts

Confronts problems directly Cooperation Consensus decision making Consistency Communication Caring Chemistry (personality, “good fit”)

Avoid lack of communication between disciplines Avoid unequal power among disciplines

Commitment

Cohesiveness (team sticks together) Collaboration

Corporate support

(Adapted with permission from Choi BCK, Pak AWP. Multidisciplarity, interdisciplinarity, and transdiciplinarity in health research, services, education and policy: 2. Promoters, barriers, and strategies of enhancement. Clin Invest Med 2007;30(6):E224-32, Table 1, p. E230.)

personal physician who will lead a team of individuals at the practice level and collectively take responsibility for the ongoing care of patients under his or her care. It further recommends that such care be coordinated and integrated across all elements of the complex health care system and DM, June 2010

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the patient’s community. Thus, the Joint Principles statement provides the basis for multiple disciplines to work together as a team to achieve a common goal of delivering effective, coordinated, and high-quality health care to all patients within the context of a patient-centered or familycentered medical home.

Outcomes of Team Approaches in Health Care Delivery There is a paucity of published studies documenting the outcomes of multiple disciplinary team approaches in health care in general and in delivery of health care to children who have DD in particular. Based on extensive reviews of literature, several authors found evidence of effectiveness of multiple disciplinary approaches to health care delivery to be equivocal.335-344 Authors note methodologic flaws and difficulties in conducting such outcome studies including poor or no definition of types of teams, ill-defined or lack of theoretical concepts, variable populations served, different settings in which care is provided, variable organizational support and infrastructure, access to and availability of experts in different disciplines, and a wide range of health problems of varying severity served by the teams. There is no documented evidence of the effectiveness of application of the Crew Resource Management model to reduce errors or improve quality in health care delivery.294,338 The need for and effectiveness of team approaches to health care delivery will vary depending on multiple factors including the specific problems being addressed, the ability of team members to work together, level of institutional and organizational support, fiscal viability of team approach, and access to and availability of needed disciplines. Such approaches have been reported to be more useful in delivery of care in the fields of rehabilitation, geriatrics, and psychiatry. Experience suggests that delivery of health care to children with DD by an interdisciplinary team is highly desirable. It reduces unnecessary visits to emergency rooms and inpatient care, improves quality of care, fosters fruitful collaboration between disciplines, addresses complex psychosocial issues, and enhances patient and caregiver satisfaction about the care. Not all medical conditions are necessarily best served by team approaches. A careful assessment should be undertaken before implementing an interdisciplinary team program for delivery of health care. Whitfield and Reid have proposed that several key questions must be asked before considering interdisciplinary population health research.287 Their approach, although designed for application in research, can also be useful while considering implementation of an interdisciplinary team to deliver health care to children with DD (Table 37). 372

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TABLE 37. Assessment of need for multiple disciplinary processes Assess if a single discipline approach is sufficient or not Identify reasons a single discipline approach is considered insufficient Assess if the proposed disciplines are available Assess which disciplines and experts are available Assess potential role each discipline will play in the team Determine how the experts are expected to work (ie, work together or to formulate a novel plan) Assess the availability of coordinators for the team operation Assess if an outcome evaluation process in place Determine how outcome of success will be measured (Based on Whitfield K, Reid C. Assumptions, ambiguities, and possibilities in interdisciplinary population health research. Can J Public Health 2004;95:434-6.)

Psychosocial Considerations Youth with DD are subject to all the same developmental issues as typically developing youth.345-352 However, the factors that cause them distress may start earlier, last longer, or recycle more often than youth without DD. Youth who have DD may experience more frequent disruptions to their lives in multiple ways. Problems with parents, siblings, guilt over using so many family resources, constant or recurrent pain, frustration with a lack of independence or privacy, physical exhaustion, or peer rejection can all contribute to making the adolescent’s transition to adulthood and community resources very difficult.345-347 Youth who have visible disabilities may have to face teasing, stares, and avoidance from others. Those with invisible disabilities may find that their needs are not met or are minimized because others have to constantly be reminded that the youth needs extra resources.348 Typical growth and development may be slowed or accelerated because of the impact of his or her DD. Children and adolescents who are ill expend a great deal of energy just surviving day to day and may not have the opportunity to mature cognitively, socially, or emotionally. Youth who develop DD during their maturation through infancy, childhood, or adolescence may experience fear about the illness and not understand why this is happening to them. Emotions such as distress, anxiety, anger, and depression are often experienced by youth as a part of the maturation process. Those emotions may exacerbate with the onset, intensity, frequency, and duration of one or more DD. It is important that physicians recognize the presence of these emotions in youth who have DD and help them access appropriate supports and services. It is important that youth understand they are not alone and can learn techniques for coping with their problems. DM, June 2010

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Issues for Parents Parents’ reactions to their DD youth’s problems are, of course, very important to the overall psychologic health of the parents and their youth.168,179,353 The birth of a baby can give parents considerable joy and start them off on a journey of fantasy about the wonderful things their child may do that will make the parents very proud and happy. It is a normal desire on the part of parents to want to produce a perfect child—1 that is the best at some or all the qualities these parents desire. Some parents even live their lives and dreams through their children. Unfortunately, children may not live up to such often unrealistic expectations. Many parents learn to accept such a reality and learn to love their children in a realistic manner, usually understanding that their children are simply reflections of themselves, thus negating the potential of perfection. Children with disabilities can be in this category as well, whether dealing with a child with DS, mental retardation, chronic illness, or other. Parents may mourn the loss of their “perfect” child when confronted with a child with a DD. The sense of loss may be complicated as the child spends more time away from home in school or other facilities and as they enter into the adult world. Many adolescents with or without DD can become moody and irritable with wide mood swings while developing transient school problems, and even suicidal thoughts as they proceed through adolescence. Youth may begin to question previously taught moral, ethical, and religious views of parents as these youth seek to understand concepts and perform tasks “their way” consistent with their abilities. Much of this is normal adolescent behavior and parents can be counseled what is normal and what is abnormal in these areas. Some parents develop guilt over producing a disabled child and seek to protect their child from life’s many potential difficulties and impasses. Such overprotection can force these youth to become too dependent on parents and not go through normal adolescent stages of emancipation and identity formation.179 DD with or without chronic illness or physical handicaps can limit the emancipation process in these youth and overprotective parents can worsen this negative trend. It is especially difficult for these parents to allow youth who do not adhere to treatment recommendations normal or even any autonomy. The parent can be torn between fears of injury and even death for their adolescent or even adult “child” and the need to allow freedom and personal choice in various matters. Parents may interpret their adolescent’s nonadherence with medical recommendations as being irresponsible; convincing these parents that autonomy is not a wise choice for their youth. Parents can even 374

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consciously or unconsciously seek to prevent their youth from appropriately growing up, especially if this is the last child in the home and the parents have no other interests.

Psychologic Effects of Disability on Youth Disability may constitute a major block to adolescent growth and development by limiting the youth’s developing self-image and removing or impacting a normal emancipation process into and throughout adulthood.168,170,354-357 The presence of DD or chronic illness may induce major life changes that may impact sexuality development. Successful maturation may be made more difficult by disability, impacting the development of normal sexuality, and healthy sexual functioning. Stresses produced by the youth’s attempts to negotiate sexual development successfully may in turn exacerbate effects of the disability or worsen the chronic illness that is present. Rejection by peers because of being “different” can pose major hurdles for some youth and even adults, especially those with DD.168 The youth or adult with disability who has a poor self-image becomes easy prey for peers seeking to criticize and taunt others to deflect damaging criticism on them. Few if any can happily receive constant rejection or harsh criticism from their peers. We are all in various groups as children, adolescents, or adults. General acceptance by our own peers is vital to our own inner stability. The adolescent or adult with DD may conclude that s/he does not have access to this general acceptance. As growth patterns begin to accelerate rapidly in adolescents, and as body contours change dramatically with the development of secondary sex characteristics, adolescents become preoccupied with body image issues; they worry and wonder over the adequacy of this new body. Adolescents with DD have the added burden of attempting to tolerate real abnormalities and deviations from their idealized body image. Specific problems encountered with youth who have DD involve lowered selfesteem, unsatisfactory body image, and doubts involving future selfsufficiency as well as the ability to reproduce and parent. Even adolescents who have mild DD may have significant problems with identifying consolidation, particularly if periodic or prolonged hospitalization and medical care become necessary. Such paralysis of development can continue over one’s lifespan.

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know how a person who has DD usually communicates his or her needs. Questioning should always be directed to the patient at a developmentally appropriate level. This should be done even for persons you consider incapable of understanding or responding. Appropriate pause for responses should be allowed and then the questions redirected to the parents or other caregivers. Such action may take a little more time but is worth the rapport it may support with the patient and his or her family. The use of open-ended questions and insistence (gently) that parents or caregivers allow the patient to respond first to questions is good advice. Again this is more time-consuming but begins the process of teaching health care self-management skills.

Interactions with the School System The physician’s interaction with the child or adolescent’s school system is essential because of the enormous implications related to DD on the child or adolescent’s functioning. Also, educational and school-based therapies are significant interventions for youth who have DD. Physicians should be responsive to the requests from school personnel for information or help regarding medical issues and how they may impact school functioning and school-based therapeutic interventions. Several issues surface when working with children who have DD, their parents, and schools, for example: 1. Teachers may send letters to physicians requesting medication for a child’s behavior. Send diagnostic forms and a brief note back to the school when a letter for medication is received. They may suspend a child pending a visit with his or her physician and medication. Parents come in to the office distressed and demanding you fix the problem. Physicians can help the parents generate solutions and action steps. 2. Physicians send diagnostic tools to the school for teachers to fill out but the physician often does not receive completed forms. Provide in-person education; send to school, residents, or nurses or nurse practitioners who specialize in the area of the patient’s medical and psychologic needs. These individuals can help schools and teachers understand what is in the best interest of the patient and figure out how to meet their health care needs with minimal disruption to the school or classroom setting. Explain how physical and mental illness can impede learning and performance. Work with the school to adapt academic requirements for specific youth. 3. Parents complain that, because of DD, teachers are unfair to their child, do not like their child, or are rude and do not listen to them. The 376

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physician can play a facilitative role by complimenting the parents and teachers for working with the child who has DD. 4. Teachers complain that the parents of children who have DD are difficult to work with and abusive to them when they try to talk to the parents about their child. The physician can play an important role by communication with teachers, providing a perspective and context within which parents are functioning with a child who has DD. 5. Teachers and administrators say the child who has DD is just seeking special attention and privileges when the child asks for extra resources, trips to the bathroom, or time. Encourage parents and teachers by complimenting what they are doing for the patient. Explain that this is difficult work but if everyone works together, solutions can be found. Tell them that more expertise and help may be needed but, with everyone’s efforts, progress can be made.

Interactions with Community Agencies In the medical setting “patient” is the term used to describe the recipient of service but in the community setting the term is “consumer” (many treating clinicians in the community still use the term “client”). This distinction is especially important when communicating with individuals from community mental health. The use of the term “consumer” indicates to them that you are aware of their customs; it serves as a sort of icebreaker. Usage may be interchangeable during conversations and correspondence. A physician should consider referring the patient who has a DD to nonphysician experts any psychologic, cognitive, emotional, or social issues that impair a person’s ability to adjust or adapt to his or her environment in a manner that results in optimal function. When referring a patient to Community Mental Health Services, clarity is important. Community Mental Health Services are tightly regulated and have gatekeepers to ensure the neediest individuals receive their services. Many Community Mental Health groups have master contracts with insurance companies, Medicaid, and Medicare so that patients must use their services to gain access to other services in the community. Write a clear and concise referral letter. State the referral question clearly. It is not helpful to write: “ADHD? ODD?” A more helpful statement would be: “This patient has presented with multiple symptoms of ADHD. His mother says he has demonstrated problems with paying attention, focusing, sitting still, arguing, and is unable to follow directions, fights his siblings, and disrupts the classroom. The symptoms have lasted for the DM, June 2010

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past year. They keep getting worse. I question ADHD because the child is also sad, cries frequently, and reportedly has no friends.” Take into account the specific needs of the youth when referring to community agencies—are there barriers to the patient’s access to care (language (interpreters), culture, race, hearing or sight impairments, physical mobility issues (wheelchair access))? If there are, be sure to clearly note this information in the referral. Your patient cannot be denied services because of these needs but the receiving agency may need time to access those resources. Give the receiving nonphysician professionals or community agency a way to quickly access you for support and information. Most notes from physicians that are copied out of the chart are not useful to nonmedical clinicians. They require a great deal of time deciphering and much interpretation. Clinicians are grateful for the information but would better be able to meet your expectations and provide higher quality care to your patients if they had clear expectations and background data at their disposal. Ask receiving clinicians or agencies to update you regularly with the progress of your patient and then review this progress when you see your patient in the office.

Acknowledgments The authors thank Kim Douglas for superb assistance in the preparation of this manuscript and Sandra Howe and Marge Kars, Bronson Methodist Hospital Health Sciences Library, for assistance with search and retrieval of articles and books. Some parts of this monograph are based on the authors’ own previous work as follows: the section on Sexuality and Gynecologic Care is adapted and revised with permission from: Greydanus DE, Omar H. Sexuality and gynecologic care of adolescents with developmental disabilities. Pediatr Clin North Am 2008;55(6):1315-35. The section on Concepts of Multiple Discipline Team Care is partly adapted with permission from Patel DR, Pratt HD, Patel ND. Team care and team processes. Pediatr Clin North Am 2008;55:1375-90. Portions of the section on Medical Home and Transition Planning are extracted from Burdo-Hartman, WA, Patel DR. Medical home and transition planning for children and youth with special health care needs. Pediatr Clin North Am 2008;55:1287-98. Some portions of Basic Concepts of Developmental Diagnosis are extracted from Patel DR. The principles of developmental diagnosis. In: Greydanus DE, Feinberg AN, Patel DR, Homnick D, editors. Pediatric Diagnostic Examination. New York: McGraw Hill, 2008. p. 629. Portions of the section on Intellectual Disability are extracted from Patel DR, Merrick J. Intellectual disability. In: Greydanus DE, Patel DR, Pratt HD, Calles JL Jr, editors. Behavioral Pediatrics, 3rd ed. New York: Nova Press, 2009. p. 39-50.

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