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Angelman - Angelman Syndrome Craig Dobson MD CPT MC USAR...

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Angelman Syndrome Craig Dobson, MD CPT, MC, USAR NCC Pediatrics
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Case 20mo male with h/o developmental delay, presents for evaluation of constipation. PMH: Frequent seizures, multiple anticonvulsants. Chromosome analysis normal. Surgeries: strabismus correction planned. Physical exam Notable for a happy, giggling child, also slight jitteriness with movements.
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Angelman Features Seizures Developmental delay/MR DQ20-35 Strabismus Sleep disturbance Hypermotoric behavior/tremulousness Ataxia Excessive happiness Constipation Microcephaly
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Multiple Genetic Mechanisms Overall cause is loss of maternally imprinted copy of genes on Chr15. Prader-Willi is parental lost.
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Causes of lost maternal imprint Deletion on maternal chromosome 15. (70%) Uniparenteral disomy of Chromosome 15 (2-3%) Two copies of father’s Chr 15. Mutation of maternal UBE3A gene. (5-7%) Imprinting defect (3-5%) Unknown (15%)
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Angelman Sx Sz. Management Seizure Management Partial motor, often minor movements Difficult to distinguish from tremulousness.
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