Feb 27, 2019 please use one of the following formats to cite this article in your essay, paper or report. Eeg abnormalities aid diagnosis of rett syndrome elizabeth a. Lenfant, dont le developpement etait normal, diminue son interet pour les jouets ou les personnes. Les petites filles malades ont une deficience intellectuelle severe et presentent des complications multiples, dont des troubles respiratoires et cardiovasculaires. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. Rett syndrome is a rare, severe neurological disorder that affects mostly girls. O sexo feminino e atingido numa prevalencia estimada entre 1. Goidstein, md nine girls with rett syndrome had 22 electroen cephalographic studies performed over 5 years. Pineda m, aracil a, vernet a, espada m, cobo e, arteaga. This article is focus on the currently knowledge about rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and.
The full text of this article is available as a pdf 117k. Complications can include seizures, scoliosis, and sleeping problems. Often there is slower growth, problems walking, and a smaller head size. Rett syndrome rtt is a genetic brain disorder that typically becomes apparent after 6 to 18 months of age in females. Symptoms include problems with language, coordination, and repetitive movements.
Soriano fonseca f, aguilar rebolledo f, morales hernandez e. Patients with rett syndrome should be seen for regular wellness checkups, screenings and immunizations especially flu vaccinations. Il fait partie des troubles envahissants du developpement ted. Please use one of the following formats to cite this article in your essay, paper or report. Rett syndrome affects one in every 10,000 15,000 liveborn female babies in all racial and ethnic groups worldwide. In 1983, rett syndrome was recognized as a known condition and much more research was to follow including the determination and publication of a set of diagnostic criteria. Sindrome di rett, subiscono una notevole regressione nello sviluppo hagberg, 1993.
Rett syndrome rett syndrome is a neurologicalmovement disorder which predominantly affects girls approximately 1 in 10,000. Pdf rett syndrome rtt is a neurological disorder caused by mutations in the xlinked gene methylcpgbinding protein 2 mecp2. E una patologia ad insorgenza tardiva intorno ai 18. Many attain developmental milestones from birth to age two or three, but then begin to regress. Le jour ou jai rencontre mon enfant hd 1080p duration. Nine teen waking tracings demonstrated moderate back ground slowing. Rett syndrome is a neurodevelopmental disorder that affects girls almost exclusively. Aandachtspunten voor mensen met het rett syndroom kennisplein. Since the disorder usually occurs spontaneously, there is less than a 1% risk of another child in the same family being born with rett syndrome.