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Rett Syndrome

Rett Syndrome. It’s Not Just for Girl’s Anymore . Craig Dobson, MD CPT, MC, USA NCC Pediatrics Residency Program. Clinical Characteristics. Developmental regression Progressive microcephaly Stereotyped hand movements Seizures. Characteristics. Disordered breathing Ataxia Scoliosis

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Rett Syndrome

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  1. Rett Syndrome It’s Not Just for Girl’s Anymore. Craig Dobson, MD CPT, MC, USA NCC Pediatrics Residency Program

  2. Clinical Characteristics • Developmental regression • Progressive microcephaly • Stereotyped hand movements • Seizures

  3. Characteristics • Disordered breathing • Ataxia • Scoliosis • Time course progression

  4. Stage I • Age 6-18 months • Minor delays • Postural reflexes delayed • ‘Bottom shuffling’ common • Often normal

  5. Stage II • Age 1-2yr • Regression • Personality phenotype • Difficult to control • Screaming fits • Occasional self injurious behavior

  6. Stage II, cont. • Hand movements • Wringing • Flapping • Automatisms • Disordered breathing • Hyperventilation • Apnea • Air swallowing

  7. Stage III • Usually begins age 3-4 • Regaining and improving communication • Improved behavior • Stable to slowly declining motor function • Seizures • Generalized or partial • Late stage II to early III

  8. Stage III, cont. • Sleep disturbance • Night laughter Early stage III (83%) • Night screaming fits later stage III • Bruxism • Scoliosis

  9. Stage IV • Adult life • Progressive lower motor deterioration • Progressive severe neurogenic scoliosis • Preserved communication • Improved control of seizures • Improved behavioral phenotype

  10. Epidemiology • 1:10,000-15,000 females • Rare but present in males • Unknown atypical prevalence

  11. Genetics • MECP2 Gene • X-Chromosome inactivation • Mosaicism

  12. Prognosis/Life expectancy • Classic Rett Syndrome • 7% survive beyond age 40 • Unexplained sudden death common • Atypical Rett Syndrome • Mosaics

  13. Clinical Implications • Genetic testing • Females (incl atypical presentations) • Males (mosaics) • Genetic couselling • Recognition of carrier state • Prenatal testing

  14. Clinical Implications, cont. • New medication options • Buspirone for breathing abnormalities • Melatonin for sleep disturbances • L-carnitine in preserving neurologic function. • Targeting learning modalities • Music • Non-speech communication

  15. Future • Expanded genetic testing • Recognition of more atypical presentations • Mouse model testing of therapeutics • Further understanding of gene’s regulatory role

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