7q11.23 Duplication Syndrome
摘要
Clinical characteristics 7q11.23 duplication syndrome is characterized by distinctive facial features; cardiovascular disease (dilation of the ascending aorta in 46%); neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and phonologic disorders; behavior problems including anxiety disorders (especially social anxiety disorder [social phobia]), selective mutism, attention deficit hyperactivity disorder (ADHD), oppositional disorders, physical aggression, and autism spectrum disorders (ASD); delayed motor, speech, and social skills in early childhood; and intellectual ability ranging from intellectual disability (~18%) to borderline intellectual ability (~20%) to low average to high average (the remainder). Approximately 30% of individuals with the 7q11.23 duplication have one or more congenital anomalies. Diagnosis/testing The diagnosis of the 7q11.23 duplication syndrome is established by detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the Williams-Beuren syndrome critical region (WBSCR). Management Treatment of manifestations: Aortic dilation is treated with beta blocker therapy and/or surgery as needed. Constipation should be aggressively managed at all ages to prevent encopresis and impaction. Address developmental disabilities, including ASD, through early intervention programs (including speech/language therapy, physical therapy, and occupational therapy), special education programs, and vocational training. Address ASD with applied behavior analytic interventions and other empirically supported psychosocial approaches. Address childhood apraxia of speech (CAS) or manifestations of this disorder with intensive speech/language therapy to maximize effective oral communication and prevent or limit later language impairment and/or reading disorder. Address emotional and behavioral disorders (aggression,