Julia Sophie Frueh1, Daniel Zvi Press1, Jessica Solomon Sanders1. 1. Department of Neurology (JSF), Boston Children's Hospital, MA; Department of Neurology (JSF, DZP), Beth Israel Deaconess Medical Center, Boston, MA; and Department of Pediatrics (JSS), University of Colorado, Denver.
Abstract
PURPOSE OF REVIEW: Etiologic investigations for adults with intellectual disability (ID) pose a special challenge to many adult neurologists. The adaptability of pediatric guidelines for workup of ID to adult populations has not been clearly established. We review the current recommendations on etiologic workup of ID in children and adults and provide initial guidance for adult neurologists who care for individuals with ID of unknown etiology. RECENT FINDINGS: Etiologic workup, including genetic testing, is recommended in individuals with ID of unknown origin. Workup should be guided by a thoughtful history and physical examination, which can help identify certain causes of ID. SUMMARY: Specific diagnoses may help guide management and surveillance of comorbid conditions in individuals with ID. Etiologic investigations of adults with ID include genetic and metabolic testing and brain imaging in the appropriate clinical setting.
PURPOSE OF REVIEW: Etiologic investigations for adults with intellectual disability (ID) pose a special challenge to many adult neurologists. The adaptability of pediatric guidelines for workup of ID to adult populations has not been clearly established. We review the current recommendations on etiologic workup of ID in children and adults and provide initial guidance for adult neurologists who care for individuals with ID of unknown etiology. RECENT FINDINGS: Etiologic workup, including genetic testing, is recommended in individuals with ID of unknown origin. Workup should be guided by a thoughtful history and physical examination, which can help identify certain causes of ID. SUMMARY: Specific diagnoses may help guide management and surveillance of comorbid conditions in individuals with ID. Etiologic investigations of adults with ID include genetic and metabolic testing and brain imaging in the appropriate clinical setting.
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