Rett Syndrome-Craig Dobson, MD分析课件.pptVIP

Rett Syndrome It’s Not Just for Girl’s Anymore. Clinical Characteristics Developmental regression Progressive microcephaly Stereotyped hand movements Seizures Characteristics Disordered breathing Ataxia Scoliosis Time course progression Stage I Age 6-18 months Minor delays Postural reflexes delayed ‘Bottom shuffling’ common Often normal Stage II Age 1-2yr Regression Personality phenotype Difficult to control Screaming fits Occasional self injurious behavior Stage II, cont. Hand movements Wringing Flapping Automatisms Disordered breathing Hyperventilation Apnea Air swallowing Stage III Usual