Rett syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Rett syndrome: clinical features. The initial development is normal. Regression sets in between 6-18 months. Fully referenced neurology checklist.
Progression
- The initial development is normal
- Regression sets in between 6-18 months
- This is followed by a period of stabilization
Neurological features
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Stereotyped hand movements
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Paroxysmal non-epileptic events
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Systemic features
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References
- Zanni G, Bertini ES. X-linked disorders with cerebellar dysgenesis. Orphanet J Rare Dis 2011; 6:24.
- Weaving L, Ellaway C, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet 2005; 42:1-7.
- Marco EJ, Skuse DH. Autism-lessons from the X chromosome. SCAN 2006; 1:183–193.
- Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8:61-65.
- Glaze DG, Percy AK, Skinner S, et al. Epilepsy and the natural history of Rett syndrome. Neurology 2010; 74:909-912.
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