《Rett Syndrome-Craig Dobson, MD》内容简介

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

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