Rett syndrome: clinical features
Evidence-based neurology checklist on rett syndrome: clinical features: Progression The initial development is normal Regression sets in between 6-18 months This is followed by a period of stabilization Neurological features Stereotyped hand movements Respiratory features Systemic features
Progression
- The initial development is normal
- Regression sets in between 6-18 months
- This is followed by a period of stabilization
Neurological features
Stereotyped hand movements
Respiratory features
Systemic features
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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