Nine teen waking tracings demonstrated moderate back ground slowing. Algunos sintomas pueden tratarse con medicinas, cirugia y fisioterapia o terapia del lenguaje. When we do reference to rett syndrome we are mentioning a syndrome what is few. Goidstein, md nine girls with rett syndrome had 22 electroen cephalographic studies performed over 5 years. Biotechnology and the merged evolution of genes and culture. Diagnosis is based on clinical criteria which allow the. After identification of these similarities, hagberg and wittengerstrom suggested in 1986 that rett syndrome be divided into four clinical stages to assist clinicians in accurately diagnosing the disorder perry, 1991. Clinics in developmental medicine n127, london, mac keith press 1993. It affects almost exclusively girls and women being the estimated incidence of this disease in the general population of one case per.
The incidence of rett syndrome in males is unknown, partly owing to the low survival of male fetuses with the rett syndromeassociated mecp2 mutations, and partly to differences between signs caused by mecp2 mutations and those caused by rett s. Rett syndrome rtt is a rare disorder characterized by normal early developmental growth followed by changes in typical patterns. Rett syndrome is a neurological disorder of genetic basis. It is considered a dominant disease linked to the x chromosome.
It is caused by mutations in mecp2 in the majority of cases, but a proportion of atypical cases may result. Rett syndrome is a rare neurodevelopmental disorder which leads to severe global delay with cognitive, motor, and communication impairments. Rett syndrome is a severe neurodevelopment disorder which affects exclusively women. Around 90 % of classic rett patients and 40 % of rett variant patients carry a mutation in mecp2 gene, but other genes have recently been related to rett syndrome, such as cdkl5 for the early. Rett syndrome rs is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. Rett syndrome association databases for rett syndrome. Pdf assimilata per anni alla sindrome artistica e inclusa dal dsmiv 1994 tra i disturbi. Eeg abnormalities aid diagnosis of rett syndrome elizabeth a. Shahbazian md, antalffy b, armstrong dl, zoghbi hy. Mutations of the methylcpg binding protein 2 mecp2 gene are the most prevalent cause of classical rtt cases.