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Genetics Program |
Pediatric Neurogenetics Clinic
The Pediatric Neurogenetics Clinic focuses on children with rare genetically based neurological disorders. This clinic provides interdisciplinary services, bringing together a team of experts from neurology, medical genetics, pediatrics and, genetic counseling. Meeting with several specialists at once allows a family to save time and money, and receive a more comprehensive diagnosis for their child.
Children who are eligible for the clinic may have dysmorphic, or atypical, facial features, as well as severe neurological symptoms, such as mental retardation, seizures, movement disorders, unexplained muscle weakness, or abnormal brain scans or muscle biopsies. Children may have had atypical development from birth, or may have developed typically and then experienced a regression in development.
During patient visits, clinic specialists work as a team to maximize communication and collaboration. If clinicians are able to reach a diagnosis, they often can provide information about the child’s prognosis and information regarding the mode of inheritance and recurrence risks. The team then directs the family to resources such as peer support groups, or state-funded resources and special services.
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