【專業(yè)課件】Rett Syndrome-Craig Dobson, MD
《Rett Syndrome-Craig Dobson, MD》內(nèi)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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