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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 (in-
cludes 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 individuals 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).

Dis Mon 2010;56:305-397


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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 Transition-
ing 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.
Denitions
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 Organi-
zation has developed the International Classification of Functioning,
Disability, and Health, which consists of 3 key components body
function and structure, activity, and participationthat provides a frame-
work 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 environ-
mental 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 impair-
ments, visual impairments (including blindness), serious emotional dis-
306 DM, June 2010
TABLE 2. World Health Organization International Classification of functioning, disability, and
health
Normal Function Lack of Normal Function
Body function Impairment
The physiological functions of the body Problems in the body function as a significant
deviation or loss
Body structures Impairments
Anatomic parts of the body Problems in structure as a significant
deviation or loss
Activity Activity limitation
The execution of a task or action by an Difficulties an individual may have in
individual executing activities
Participation Participation restrictions
Involvement in a life situation Problems an individual may have in
involvement in life situation
Functioning Disability
A global term used to encompass body A global term used to encompass problems
functions, body structures, with body functions, body structures,
activities, and participation activity limitations, and participation
restrictions
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 307
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 develop-
ment, 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
individuals 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 DM, June 2010
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 abili-
ties.16-19
The manner of progression of development is predictable in a typically
developing child.16-19 Gross motor development progresses in a cepha-
locaudal 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 develop-
mental 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 develop-
ment 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, dissocia-
tion, or regression (Table 4).17-23 Global developmental delay refers to a
significant developmental delay in 2 or more developmental domains in
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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 infor-
mation 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, neuro-
imaging studies, and psychologic testing as well as specialist consulta-
tions.20,22,23 The goal of the evaluation is to identify a specific develop-
mental 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 hear-
ing 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 regres-
sion should be evaluated for neurological, genetic, or metabolic disorder.
Children suspected of speech and language disorders should be evalu-
ated by a speech-language pathologist. Children with symptoms and signs
310 DM, June 2010
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 Develop-
mental 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 con-
sider the expectations based on individuals age and culture.26 The
influence on cognitive assessment of sensory, motor, communication, or
behavioral factors should also be appropriately considered in administra-
tion 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 childs educational perfor-
mance.13
According to the Diagnostic and Statistical Manual of Mental Disor-
ders, 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, self-
care, 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
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TABLE 5. Classification of intellectual disability severity
Severity Level
Intelligence Supports Needed in Daily Living Activities
(Percentage of
Quotient Range Such As School, Work, or Home
Individuals with ID)
Mild (85%) From 50-55 to 70 Intermittent Support on as needed basis,
episodic or short-term
Moderate (10%) From 35-49 to 50-55 Limited Consistent over time, but time
limited
Severe (4%) From 20-25 to 35-40 Extensive Regular, consistent, lifetime
support. Regular support in
at least one aspect such as
school, work or home
Profound (1%) Less than 20-25 Pervasive 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 DM, June 2010
TABLE 6. Common presentations of intellectual disabilitya by age
Age Area of Concern
Newborn Dysmorphic syndromes, microcephaly
Major organ system dysfunction (eg, feeding and
breathing)
Early infancy (2-4 months) Failure to interact with the environment
Concern about vision and hearing impairments
Later infancy (6-18 months) Gross motor delay
Toddlers (2-3 years) Language delays or difficulties
Preschool (3-5 years) Language difficulties or delays
Behavioral difficulty, including play
Delays in fine motor skills: cutting, coloring, drawing
School age (older than 5 years) 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 condi-
tions 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
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TABLE 7. Average age at recognition of intellectual disability
Severity of Intellectual Disability Most Likely Age at Recognition
Mild 5-6 y
Moderate 3-5 y
Severe 3 y
Profound 2 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 accommo-
dations 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 summa-
rized 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 DM, June 2010
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 meta-
bolic 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
1%.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 commen-
surate with their mental age and generally there are no motor deficits.
Children who have developmental language disorders or specific lan-
guage impairments have predominant deficits in various aspects of
language development, whereas their social, motor, and cognitive devel-
opment progresses typically.20-23 Children who have ASDs have predom-
inant 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 manage-
ment 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 315
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
infants or toddlers 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 childs 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 students 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 students
transition to adult services, vocational training, and independent living.
316 DM, June 2010
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 antiepi-
leptic 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 cogni-
tive functioning or contribute to behavioral disturbances, such as aggres-
sion. 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
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TABLE 10. Adult outcomes and functioning of persons who have intellectual disability
Mental
Level Adult Adaptation
Age as Adult
Mild 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 sum-
marized 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 condi-
tions (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 DM, June 2010
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 medica-


tions 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 319
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 (dys-


graphia), 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 self-
esteem, 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 childs 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 childs 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 childs parents.13 The
public agency must promptly request parental consent to evaluate the
320 DM, June 2010
child to determine if the child needs special education and related
services.
Specific LD is diagnosed when the child or adolescents 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 written-
language 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 321
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 de-
pressive 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 mathe-
matical symbols or signs; difficulties copying numbers or figures,
following sequences of mathematical steps, and counting or multipli-
cation 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 DM, June 2010
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 interven-
tions.51,55,61,62 The physician plays an important role in early recognition,
evaluation for any underlying medical conditions, and initiating appro-
priate 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 under-
lying 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 multi-
ple-choice questions.
Similar principles are applied for the management of children who have
LDs in general. In addition to remediation and accommodation, curricu-
lum 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 323
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 DM, June 2010
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 individuals 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%, respec-
tively. 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 communi-
cation disorders. Diagnosis of a specific communication disorder requires
evaluation by a speech-language pathologist.
Speech and language problems may present as any number of symp-
toms 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 325
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 develop-
ment 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 lan-
guage. 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. Phono-
logic 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 DM, June 2010
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 physi-
cian 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 communica-
tion 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 327
(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, approxi-
mately 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 develop-
mental 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-than-
expected 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 DM, June 2010
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 screen-
ing 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 instru-
ment 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 lan-
guage 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 peoples 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 epilepti-
form electroencephalographic abnormalities.83 Epilepsy is also a negative
DM, June 2010 329
prognostic factor for individuals with autistic disorder. Behavioral dis-
turbances 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 external-
izing (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
interactionsthey 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 commu-
nication 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 initi-
ated 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 DM, June 2010
treatment for older children and adolescents is provided in the educational
settings under various federal and state regulations. Children and adoles-
cents 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 imple-
mented with ongoing evaluations and revisions as needed.
Psychosocial and educational interventions are the mainstay of man-
agement 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 331
delineated show that individuals with Asperger syndrome have a better
outcome than do those with autistic disorder. However, overall function-
ing may still be significantly impaired. For example, Cederlund et al.,
compared males with Asperger syndrome to males with autistic disorder,
5 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 23 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 psychopa-
thology and initiate treatment or facilitate referral to mental health
specialists (see the section below on Dual Diagnosis and Psychopharma-
cology).

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 DM, June 2010
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 333
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, handed-
ness 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, Werd-
nigHoffmann 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 nonpro-
gressive, 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 reflexesa characteristic
sign of CPtherefore prevents or delays age-appropriate typical progres-
sion of motor development.96
The neurologic impairment of motor system in children who have CP is
334 DM, June 2010
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 treatablefor 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 hypoglyce-
mia, 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 med-
ical 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 technol-
ogy, some of which are expensive. According to the IDEA, the term
assistive technology device means any item, piece of equipment, or
DM, June 2010 335
TABLE 17. Conditions associated with cerebral palsy
Neurologic Seizures (30%-50%)
Pulmonary Restrictive lung disease (secondary to scoliosis)
Chronic lung disease of infancy
Dysphagia (40%)
Obstructive sleep apnea
Excessive drooling
Recurrent aspiration
Gastrointestinal Oral motor dysfunction and feeding difficulties (80%-90%)
Poor nutritional status and growth
Gastroesophageal reflux disease (25%-80%)
Constipation (80%)
Bowel incontinence
Genitourinary Bladder incontinence
Recurrent urinary tract infections
Skin Decubitus ulcers
Vision (40%) Refractive errors; myopia (75%)
Strabismus, amblyopia, cataract, nystagmus, optic
atrophy, cortical visual impairment
Hearing Hearing impairment (5%-15%)
Dental Malocclusions
Communication Speech and language impairment (40%); dysarthria
Pain from multiple causes Migraine, corneal abrasions, temporomandibular joint
dysfunction, gastroesophageal reflux disease,
constipation, hip dislocation, muscle spasms,
progressive scoliosis
Sleep Sleep disturbances (25%)
Endocrine Delayed or precocious puberty
Psychosocial and behavioral ADHD, self-injurious behaviors, depression (20%)
Intellectual disability Intellectual disability (30%-65%)
Learning disabilities Learning disabilities
Musculoskeletal Scoliosis, hip dislocation, Patella alta, multiple joint
contractures

TABLE 18. Orthopedic conditions in cerebral palsy


Foot and ankle Equinus, equinovarus, calcaneus deformity, valgus deformity of ankle
Lower extremities Rotational deformities
Knee Congenital knee flexion contracture, congenital knee hyperextension
or dislocation, developmental knee flexion contracture, knee
extension contractures, knee instability, and internal derangement
Hip Abduction external rotation contracture, hip flexion deformity, hip
subluxation, and dislocation
Spine 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 DM, June 2010
TABLE 19. Assistive technology services based on the IDEA
Functional evaluation of the child in the childs 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 337
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 DM, June 2010
TABLE 22. Risk factors for neural tube defects
Risk Factor Evidence of Risk
Nutritional Incidence of neural tube defects peaks after famine
Seasonal variations
Preventive effect of acid in case-controlled and randomized studies
Environmental East-to-west trend in USA
Decreased risk among Irish who migrate to USA
Seasonal variations
Genetic 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)
Physical Association with maternal fever during pregnancy
Association with maternal use of hot tubs or sauna during pregnancy
Maternal Obesity
Diabetes mellitus
Teratogenic 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 339
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 complica-
tions 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 patients 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 malfor-
mation 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 opisthoto-
nos.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 DM, June 2010
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 associa-
ted 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 d1, 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 condi-
tions (Table 23) need PCP working with appropriate subspecialists.
Management requires neurosurgical, urologic, and orthopedic interven-
tions.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 surveil-
lance 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 intelli-
gence; 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), develop-
mental diagnosis (specific developmental syndrome vs nonspecific etiol-
ogy), psychiatric diagnosis (specific disorders vs grouped as mental
DM, June 2010 341
TABLE 23. Associated and secondary conditions in mylelomeningocele
Neurological ArnoldChiari malformation
Hydrocephalus
Tethered cord
Syringomyelia
Seizures
Autonomic dysreflexia
Cognitive/behavioral Intellectual disability
Learning disabilities
Nonverbal learning disability
ADHD
Urological/renal Neurogenic bladder
Vesicoureteral reflux
Hydronephrosis
Frequent urinary tract infections
Urinary incontinence
Urinary retention
Secondary chronic kidney disease and failure
Nephrolithiasis
Gastrointestinal/nutritional Neurogenic bowel
Bowel incontinence, rectal prolapse
Constipation
Obesity
Skin Pressure sores
Ulcers
Endocrine Growth hormone deficiency
Precocious puberty
Metabolic syndrome
Cardiovascular Congenital heart disease
Secondary hypertension
Reduced aerobic capacity
Deep venous thrombosis
lymphedema
Ophthalmologic Strabismus
Esotropia
Papilledema
Nystagmus
Allergic Latex
Sensitivities to certain foods such as bananas, water
chestnuts, avocados, and kiwi fruit
Sexual 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 DM, June 2010
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. Compar-
ing 2 groups with IDs1 ages 20-64 years, the other 65 yearsa 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 so-
cial 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 SwedishFrench collabora-
DM, June 2010 343
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%), anx-
iety 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 incon-
tinence, 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, respec-
tively, 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 DM, June 2010
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 controlaggressive 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 com-
monly 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 guide-
lines 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 Ris-
peridone 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 345
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 (16 years) with IDs.142 Factors significantly associated with
self-injury were lower functional ability, out-of-home placement, comor-
bid 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 75) compared 2 groups for the presence of ADHD symp-
toms.145 In the ID autism group a significantly greater number of
subjects scored high on inattention, hyperactivity, and/or impulsivity
346 DM, June 2010
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 retrospec-
tive 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 developmen-
tally normal populations, with most studies focusing on the stimulant
methylphenidate.148,149 The Research Units on Pediatric Psychopharma-
cology (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 medica-
tion, 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 (16
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 347
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 under-
researched; 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 abnor-
malities; 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 Aspergers disorder or HFA, and with baseline IQs above the
cutoff level for intellectual impairment, found that the parents rated
348 DM, June 2010
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 349
group, 17 disorders (27%) are also associated with intellectual impair-
ment, 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 indi-
viduals 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 individuals 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 DM, June 2010
disability, are not subject to sexual abuse, and do not require comprehen-
sive 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 man-
agement.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 PraderWilli
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 PraderWilli syndrome) has major effects on
these specific youth and adults as well. On the other hand, puberty may
be early in many conditionsCP, 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 ones
femininity and normalcy, leading to unwanted pregnancy and sexually
transmitted infections (STIs). To reduce undesirable physical manifesta-
tions 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 351
TABLE 24. Data for sexual behavior of persons, 10-24 years of age in the United States, 2002-
200719
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 2003-
2004
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 self-
esteem 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 masturba-
tion, 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 preg-
nancy, 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 gyneco-
logic care for females with disabilities is also important, as considered
later in this article.
352 DM, June 2010
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 brothersister sexual
behavior, 1% was motherson 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 353
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 parentchild/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, nonspe-
cific 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 under-
stood 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, contra-
ception, sexually transmitted diseases, substance abuse, and the myriad of
topics relating to healthy behavior. Information about sexuality should be
354 DM, June 2010
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 355
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, cogni-
tively, 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 mood-
iness 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 DM, June 2010
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 (Strepto-


coccus, Shigella), fungus (C. albicans), parasites (Trichomonas vagina-
lis), 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 involun-
tary), a pelvic examination is not necessary unless there is a history of
sexual assault or gynecologic symptomatology.188,203 A pelvic examina-
tion 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 Radio-
logic 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 357
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. Vaccina-
tion 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 prob-
lematic menstruation and related hygiene issues, including behavioral
modification training, hormonal management (combined oral contracep-
tives, Depo-medroxy-progesterone acetate, others), or gynecologic sur-
gery (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 DM, June 2010
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.
Turners 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, Blooms syndrome, Werners syn-
drome, 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 359
(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 medical-
legal-ethical considerations and discounts the right of every human for
sexual fulfillment and even parenthood. Comprehensive sexuality educa-
tion 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 emer-
gency 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-contain-
ing methods or increased menstrual bleeding or bone mineral loss noted
with progestin-only methods.214,215,256-258 Concerns of thromboembo-
lism 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 Depo-
Provera must be balanced with the loss of bone marrow density (with
360 DM, June 2010
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 contra-


ceptive 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 man-
agement 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 pharma-
ceutical 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 361
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 Transi-
tion 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
childs movement from school to post-school activities, including post
secondary education, vocational education, integrated employment (in-
cluding supported employment), continuing and adult education, adult
services, independent living or community participation, (b) is based on
the individual childs needs, taking into account the childs strengths,
preferences and interests, and (c) includes instruction, related services,
community experiences, the development of employment and other
362 DM, June 2010
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 patient-
centered 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 363
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 disabilitiesmost
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 patients care, because traditionally
364 DM, June 2010
adult medical care is patient-focused not family-focused. In the setting of
a teaching institution, medical residents may not be adequately experi-
enced 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 finan-
cial 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 adults 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 disci-
DM, June 2010 365
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 effec-
tiveness 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, perfor-
mance goals, and approach for which they are mutually account-
able.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 DM, June 2010
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 profession-
als 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 367
hearing, mobility, cognition, mental health, social function, academic
function). The patients (or responsible caregivers) 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 patients 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 toget-
her.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 addi-
tive.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 multidiscipli-
narity.285 A multidisciplinary team is typically led by a physician who makes
the final decision about the patients 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 patients care. The
368 DM, June 2010
care plan is developed by the whole team and it is the entire teams
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
Childrens 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 Appli-
cation 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 communi-
cation 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 369
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 be-
tween team members to promoting successful teamwork.284,296-301 Sev-
eral 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 patients
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, Ameri-
can Academy of Pediatrics, American College of Physicians, and Amer-
ican 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 DM, June 2010
TABLE 36. Strategies to enhance multiple disciplinary teamwork, summarized in an acronym
TEAMWORK
Promoting the The 14 Cs of
Strategy Barring the Barriers
Promoters Teamwork
T Team Good selection of team Avoid poor selection of Coordination of
members the disciplines and efforts
Good team leaders team members Conflict
Maturity and flexibility of Avoid poor process of management
team members team functioning
E Enthusiasm Personal commitment of Avoid lack of proper Commitment
team members measures to
evaluate success of
interdisciplinary work
Avoid lack of
guidelines for
multiple authorship
in research
publications
A Accessibility Physical proximity of Avoid language Cohesiveness (team
team members The problems sticks together)
Internet and e-mail as Collaboration
a supporting platform
M Motivation Incentives Avoid insufficient time Contribution (feeling
for the project this is being
Avoid insufficient made)
funding for the
project
W Workplace Institutional support and Avoid institutional Corporate support
changes in the constraints
workplace
O Objectives A common goal and Avoid discipline Confronts problems
shared vision conflicts directly
R Role Clarity and rotation of Avoid team conflicts Cooperation
roles Consensus decision
making
Consistency
K Kinship Communication among Avoid lack of Communication
team members communication Caring
Constructive comments between disciplines Chemistry
among team Avoid unequal power (personality,
members among disciplines good fit)
(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 371
the patients 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 family-
centered 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 effec-
tiveness 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 organiza-
tional 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 is-
sues, and enhances patient and caregiver satisfaction about the care.
Not all medical conditions are necessarily best served by team ap-
proaches. A careful assessment should be undertaken before implement-
ing 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 DM, June 2010
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 adolescents
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 373
Issues for Parents
Parents reactions to their DD youths 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 child1
that is the best at some or all the qualities these parents desire. Some
parents even live their lives and dreams through their children. Unfortu-
nately, 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 lifes 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 over-
protective 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 adolescents nonadherence with
medical recommendations as being irresponsible; convincing these par-
ents that autonomy is not a wise choice for their youth. Parents can even
374 DM, June 2010
consciously or unconsciously seek to prevent their youth from appropri-
ately 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 youths developing self-image and removing
or impacting a normal emancipation process into and throughout adult-
hood.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 youths attempts to negotiate sexual develop-
ment 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 self-
esteem, unsatisfactory body image, and doubts involving future self-
sufficiency as well as the ability to reproduce and parent. Even adoles-
cents 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 ones lifespan.

Effective Communication
Finally, speech, language, and cognitive limitations present special
challenges communicating with persons who have DD. It is important to
DM, June 2010 375
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 re-
sponses 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 physicians interaction with the child or adolescents school system
is essential because of the enormous implications related to DD on the
child or adolescents 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 informa-
tion 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


childs 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 patients 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 DM, June 2010
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
everyones 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 persons 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 377
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 agenciesare there barriers to the patients 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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