Rett syndrome

Rett syndrome (RTT) is a genetic disorder that affects how the brain develops. Children born with this condition are almost always girls.[1] Symptoms usually appear around 6–18 months of age and include problems with language and coordination, as well as repeating the same movements.[1] Those affected often have slower growth, difficulty walking, and a smaller head size.[1][2] Complications of Rett syndrome can include seizures, scoliosis (curved spine), and sleeping problems.[1] The condition can vary in how severe it is.[2]

Rett syndrome is caused by a genetic mutation in the MECP2 gene,[1] on the X chromosome.[2] It almost always happens as a new mutation, with less than one percent of cases being inherited (passed on by a parent).[1][2] It mostly only affects girls; boys who have a similar mutation usually die shortly after birth.[2] Diagnosis is based on the symptoms and can be checked with genetic testing.[2]

There is no known cure for Rett syndrome.[2] However, there are treatments that can help with symptoms. Medications called anticonvulsants may be used to help with seizures.[2] Special education, physiotherapy, and leg braces may also be useful depending on the needs of the child. [2] Gene therapy is being researched as a possible treatment for Rett Syndrome in the future. Many women with Rett Syndrome live into middle age.[2]

The condition affects about 1 in 8,500 females.[1] In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.[3][4] Before the genetic cause for Rett Syndrome was found, the condition was put into the category of a pervasive developmental disorder by the Diagnostic and Statistical Manual of Mental Disorders (DSM), together with the autism spectrum disorders. In 2013, the DSM-5 stopped classifying the syndrome as a mental disorder.[5]

Rett Syndrome was named after Andreas Rett, a pediatrician in Vienna, Austria, who first described the condition in 1966.[2][6]

References

  1. 1 2 3 4 5 6 7 "Rett syndrome". Genetics Home Reference. December 2013. Archived from the original on 14 October 2017. Retrieved 2025-12-21.
  2. 1 2 3 4 5 6 7 8 9 10 11 "Rett Syndrome Fact Sheet". National Institute of Neurological Disorders and Stroke. Archived from the original on 14 October 2017. Retrieved 2025-12-21.
  3. ↑ Percy, Alan (January 2014). "The American History of Rett Syndrome". Pediatric Neurology. 50 (1): 1–3. doi:10.1016/j.pediatrneurol.2013.08.018. PMC 3874243. PMID 24200039.
  4. ↑ Amir, Ruthie; Van den Veyver, Ignatia; Wan, Mimi; Tran, Charles; Francke, Uta; Zoghbi, Huda (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2". Nature Genetics. 23 (2): 185–8. doi:10.1038/13810. PMID 10508514. S2CID 3350350.
  5. ↑ Abbeduto, Leonard; Ozonoff, Susan; Thurman, Angela John; McDuffie, Angela; Schweitzer, Julie (18 March 2014). Hales, Robert; Yudofsky, Stuart; Robert, Laura Weiss (eds.). Chapter 8. Neurodevelopmental Disorders, The American Psychiatric Publishing Textbook of Psychiatry (6 ed.). Arlington, VA: American Psychiatric Publishing. doi:10.1176/appi.books.9781585625031.rh08. ISBN 978-1-58562-444-7. S2CID 241966275.
  6. ↑ Rett, A. (10 September 1966). "[On an unusual brain atrophy syndrome in hyperammonemia in childhood]". Wiener Medizinische Wochenschrift (in German). 116 (37): 723–726. ISSN 0043-5341. PMID 5300597.


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