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Diagnostic criteria for rett syndrome
Abstract
Diagnostic criteria for Rett syndrome (RS) were developed by representatives of the International Rett Syndrome Association and the Centers for Disease Control for use in future clinical and epidemiological studies. Necessary criteria are: normal prenatal and perinatal period; normal psychomotor development through the first 6 months of life; normal head circumference at birth, with subsequent deceleration of head growth; loss of purposeful hand skills; severely impaired expressive and receptive language; apparent severe mental retardation; and gait apraxia and truncal apraxia/ataxia. Supportive criteria include breathing dysfunction, seizures, spasticity, scoliosis, and growth retardation. The diagnosis of RS in considered tentative until 2 to 5 years of age. The differential diagnosis includes other disorders associated with mental retardation, cerebral palsy, and seizure disorders. These diagnostic criteria for RS should foster reliable communication among investigators and enhance the epidemiological and clinical research of this important disorder.
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Citations
Cited by
Prader-Willi Syndrome: Consensus Diagnostic Criteria
Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F. (1993) · Pediatrics · doi:10.1542/peds.91.2.398 · Cited by 1,278
Autism and the pervasive developmental disorders
Volkmar, F. R., & Klin, A. (2012) · New Oxford Textbook of Psychiatry · doi:10.1093/med/9780199696758.003.0214 · Cited by 939
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H.-R., Amir, R. E., Budden, S., Naidu, S., Pereira, J. L. P., Lo, I. F. M., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302690 · Cited by 520
Clinical manifestations and stages of rett syndrome
Hagberg, B. (2002) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.10020 · Cited by 416
Rett syndrome in Australia: A review of the epidemiology
Laurvick, C. L., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S., & Leonard, H. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.10.037 · Cited by 340
Metadata
- Authors
- The Rett Syndrome Diagnostic Criteria Work Group
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1988-04
- Volume
- 23
- Issue
- 4
- Pages
- 425-428
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W4239393537
- Cited by
- 403
- References
- 0
- FWCI
- 13.89
- Type
- journal article
- Language
- en
- Open access
- closed
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- The Rett Syndrome Diagnostic Criteria Work Group. (1988). Diagnostic criteria for rett syndrome. Annals of Neurology. https://doi.org/10.1002/ana.410230432
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