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Evaluating a developmentally disabled adult in the ED poses a
number of challenges. It is often difficult for the patient with
intellectual disability to communicate complaints and provide a
history. Patients with mental retardation often are resistant to
the maneuvers of physical examination that are needed for diagnosis.
Common disorders may be associated with unusual presentations. In
addition, 25% of individuals with developmental disabilities
appear to have significantly increased pain thresholds that alter
responses to illness and injury.1 Insensitivity
to pain may delay recognition of medical problems (e.g., intestinal
obstruction) until late in the disease process. Treatment of developmentally
disabled individuals is also complicated by questions about guardianship,
decreased ability of the patient to understand the treatment recommendations,
and, often, inadequate preventative and routine medical care. However,
it is essential that health care providers overcome these obstacles
to provide care to this special population that has difficulty advocating
for itself.
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The primary developmental disability is mental retardation, defined
as significant cognitive (intelligence quotient <70) and functional
delays with onset before adulthood. More than 40% of individuals
with mental retardation have associated medical conditions. Typically,
the lower the patient’s intelligence quotient, the more
likely a specific etiology of the mental retardation can be identified.
Etiologic factors implicated in mental retardation may be prenatal,
perinatal, postnatal, or traumatic. Genetic factors account for
7% to 15% of all mental retardation; there are 500
genetic syndromes known to be associated with mental retardation.2 Depending
on the etiology, some medical problems are associated with specific
mental retardation syndromes (Table 295.1-1).3–5
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Approximately 6 million individuals in the U.S. and 150 million
in the world (2.5% of the population) have mental retardation.
Two other developmental disorders, autism spectrum disorders and language
disabilities, are also important for health care providers to recognize.
Many autistic individuals have tactile defensiveness and become
very agitated when they are touched, which complicates physical
examination. People with either autism or a language disorder often
have difficulty communicating, understanding, appropriately generalizing,
and responding to information about suggested medical treatments,
regardless of their level of cognitive functioning.
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Over the past 20 to 30 years, there has been a movement in the
U.S. to remove developmentally disabled individuals from institutional
settings and care for them in the community. About 89% of
American adults with mental retardation currently are in the community.
Adults with mental retardation moved from an institutional setting
to the community had a ...