Review Note

Last Update: 11/18/2023 09:08 PM

Current Deck: Jack's EPPP flashcards (in progress)::Jack Condensed EPPP

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Lifespan: Prenatal Development: Rett Syndrome
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Sex chromosome abnormalities

X-linked dominant disorder that is usually caused by mutations in the MECP2 gene and almost exclusively affects females

Infants appear to develop normally durying first 6-18 months of life but then develop characteristic symptoms that include:
  • Slowed head and brain growth,
  • Loss of speech and motor skills
  • Abnormal hand movements
  • Sleep disturbances
  • Breathing abnormalities
  • Seizures

May also have Autistic like symptoms (deficits in social interactions) during the early stages of the disorder




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physio

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