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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.

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

Table 295.1-1 Medical Problems Associated with Specific Mental Retardation Syndromes

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 ...

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