Rett syndrome

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

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

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

The condition affects about 1 in 8,500 females. In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition. 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.

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

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.