Rett syndrome

Not to be confused with Tourette syndrome.

Rett syndrome
Other namesCerebroatrophic hyperammonemia (obsolete),[1][2] dementia, ataxia, and loss of purposeful hand use syndrome[3]
A girl with short brown hair sits in a neon orange pushchair.
A girl with Rett syndrome
SpecialtyPsychiatry, clinical psychology, pediatrics, neurology
SymptomsImpairments in language and coordination, and repetitive movements, slower growth, smaller head[4]
ComplicationsSeizures, scoliosis, sleeping problems[4]
Usual onsetAfter 6–18 months of age[4]
DurationLifelong[5]
CausesMutation in the MECP2 gene[4]
Diagnostic methodBased on symptoms, genetic testing[5]
Differential diagnosisAngelman syndrome, autism, cerebral palsy, childhood disintegrative disorder, various neurodegenerative disorders[6]
TreatmentSpecial education, physiotherapy, braces[5]
MedicationAnticonvulsants[5]
PrognosisLife expectancy for many is middle age.[5]
Frequency1 in 8,500 females[4]
Lethal in males, with rare exceptions.

Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls.[4] Symptoms include impairments in language and coordination, and repetitive movements.[4] Those affected often have slower growth, difficulty walking, and a smaller head size.[4][5] Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems.[4] The severity of the condition is variable.[5]

Rett syndrome is due to a genetic mutation in the MECP2 gene,[4] on the X chromosome.[5] It almost always occurs as a new mutation, with less than one percent of cases being inherited.[4][5] It occurs almost exclusively in girls;[4] boys who have a similar mutation typically die shortly after birth.[5] Diagnosis is based on the symptoms and can be confirmed with genetic testing.[5]

There is no known cure for Rett syndrome.[5] Treatment is directed at improving symptoms.[5] Anticonvulsants may be used to help with seizures.[5] Special education, physiotherapy, and leg braces may also be useful depending on the needs of the child.[5] Many of those with the condition live into middle age.[5]

The condition affects about 1 in 8,500 females.[4] In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.[7][8]

  1. ^ Davis AS (25 October 2010). Handbook of Pediatric Neuropsychology. Springer Publishing Company. p. 703. ISBN 978-0826157362. Archived from the original on 5 November 2017. Rett initially called this syndrome cerebroaatrophic hyperammonemia, but the elevated ammonia levels in the bloodstream were later found to be only rarely associated with this condition (can Acker, Loncola, & Can Acker, 2005).
  2. ^ Percy A (2014). "Rett Syndrome: Coming to Terms with Treatment". Advances in Neuroscience. 2014: 1–20. doi:10.1155/2014/345270.
  3. ^ "MeSH Browser". meshb.nlm.nih.gov. Archived from the original on 4 December 2020. Retrieved 22 October 2019.
  4. ^ a b c d e f g h i j k l m "Rett syndrome". Genetics Home Reference. December 2013. Archived from the original on 14 October 2017. Retrieved 14 October 2017.
  5. ^ a b c d e f g h i j k l m n o p "Rett Syndrome Fact Sheet". National Institute of Neurological Disorders and Stroke. Archived from the original on 14 October 2017. Retrieved 14 October 2017.
  6. ^ "Rett Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 19 February 2017. Retrieved 14 October 2017.
  7. ^ Percy A (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.
  8. ^ Amir R, Van den Veyver I, Wan M, Tran C, Francke U, Zoghbi H (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.