1 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 females.[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]
^Davis, Andrew S. (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).
^Percy, Alan (2014). "Rett Syndrome: Coming to Terms with Treatment". Advances in Neuroscience. 2014: 1–20. doi:10.1155/2014/345270.
^"MeSH Browser". meshb.nlm.nih.gov. Archived from the original on 4 December 2020. Retrieved 22 October 2019.
^ abcdefghijklm"Rett syndrome". Genetics Home Reference. December 2013. Archived from the original on 14 October 2017. Retrieved 14 October 2017.
^ abcdefghijklmnop"Rett Syndrome Fact Sheet". National Institute of Neurological Disorders and Stroke. Archived from the original on 14 October 2017. Retrieved 14 October 2017.
^"Rett Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 19 February 2017. Retrieved 14 October 2017.
^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.
^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.
Rettsyndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include...
She is known for establishing the UK's Rett Clinic for children with the neurodevelopmental disorder Rettsyndrome, developing palliative care for children...
Currently there is no cure for Rettsyndrome. Treatment is directed towards improving function and addressing symptoms throughout life. A multi-disciplinary...
genetic defect of the transcriptional regulator MECP2 is responsible for Rettsyndrome. A MECP2 deficiency has been associated to catecholaminergic dysfunctions...
responsible for a number of devastating neurological disorders, such as Rettsyndrome and spinocerebellar ataxia type 1. Zoghbi's discoveries have provided...
spectrum disorder, childhood disintegrative disorder, Rettsyndrome, Landau-Kleffner syndrome, and neuro-degenerative diseases. The loss of motor, language...
these MeCP2 regulated genes in neurons contribute to the Rettsyndrome phenotype. This syndrome is associated with increased susceptibility to tumors and...
X inactivation. MECP2 gene mutations are the cause of most cases of Rettsyndrome, a progressive neurologic developmental disorder and one of the most...
on neurodevelopmental disorders, particularly for his description of Rettsyndrome, which was named after him, and for pioneering treatment based on the...
under the brand name Daybue, is a medication used for the treatment of Rettsyndrome. It is taken by mouth. The most common adverse reactions include diarrhea...
between Rettsyndrome and autism. Sleeping and language impairments, seizures, and developmental timing are common in both autism and Rettsyndrome (RTT)...
recovery of BDNF levels in female mice with conditions similar to those of Rettsyndrome. Over the course of 30 weeks female mice in enriched environments showed...
disorder associated with mental retardation and stereotyped movements, and Rettsyndrome. The first four of these disorders are commonly called the autism spectrum...
with Rettsyndrome, a genetic brain disorder, for decades. In a study investigating stereotypical hand movements in individuals with the syndrome, hand...
Rett may refer to: Andreas Rett (1924–1997), Austrian neurologist and author Arbeidets Rett, local newspaper published in Røros, Norway Rettsyndrome...
repetitive behavior. Of the PDDs, Asperger syndrome was closest to classic autism in signs and likely causes; Rettsyndrome and childhood disintegrative disorder...
descent. Coleen is the eldest of four children; her sister Rosie, who had Rettsyndrome, died on 5 January 2013 at the age of 14. Coleen Rooney attended St...
system. Mutations in the MECP2 gene are also commonly associated with Rettsyndrome in females. Advances in genetic testing and more widespread use of Array...
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55...
malignancy and symptomatic relief of symptoms. "Forme fruste RettSyndrome", variant of RettSyndrome which has a later age of onset compared with the classical...
benign hereditary chorea, Friedreich's ataxia, mitochondrial disease and Rettsyndrome. The most common acquired causes of chorea are cerebrovascular disease...
years old. This is only the case for 5–8% of preschool children. Savant syndrome Nonverbal autism Language delay § Consequences of language delay Camarata...
Syndromic autism (or syndromic autism spectrum disorders) denotes cases of autism spectrum disorder that are associated with a broader medical condition...
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