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《Rett Syndrome-Craig Dobson, MD》內容簡(jiǎn)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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