Background & Genetics 1-5
Salient Features 4-8
Natural history generally classified into 4 stages, although symptoms may overlap.
Stage 1 (Early onset stagnation period):
- Occurs between 6 months - 1.5 years
- less interest in social interaction. Mild delay in achieving developmental milestones.
Stage 2 (Rapid developmental regression period):
- Occurs between 1-4 years
- Loss of previously acquired fine motor and language skills. Social withdrawal.
- Behavioural problems like hair pulling and bruxism.
- Slowing of head growth. Acquired microcephaly.
Stage 3 (Pseudo-stationary period):
- Occurs between 2-10 years, once the regression phase is over.
- Hand stereotypies become more prominent and include hand wringing, clapping and hand washing.
- lrregular breathing patterns (breath holding, periods of slow/rapid breathing) becomes more prominent.
- About 70% children develop seizures
- Communicates mainly by eye pointing/eye gaze
- Cold feet with or without atrophic changes
Stage 4 (Late motor deterioration):
- Occurs when individual becomes wheelchair bound.
References & Further reading
- Vilain A, et al. Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization. Cytogenet Cell Genet. 1996;74(4):293-4.
- Amir RE, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185-8.
- Archer HL, et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet. 2006;43(5):451-6.
- Smeets EE, Pelc K, Dan B. Rett Syndrome. Mol Syndromol. 2012 Apr;2(3-5):113-127. PubMed: 19550435 Review article
- Nomura Y, Segawa M. Natural history of Rett syndrome. J Child Neurol. 2005 Sep;20(9):764-8. PubMed: 16225833 Review article
- Clarke A. Rett syndrome. J Med Genet. 1996;33(8):693-9.
- Charman T, et al. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. Eur J Hum Genet. 2005;13(10):1121-30.
- Pozzi CM, et al. Rett syndrome: clinical and epidemiological aspects in a Brazilian institution. Arq Neuropsiquiatr. 2003;61(4):909-15.