Rett Syndrome-Craig 内容预览： 

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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

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

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

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

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