Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.

ABSTRACT: Over the last 20 years, the understanding and natural history of Rett syndrome has advanced, but to date no cure has emerged, with multidisciplinary management being symptomatic and supportive. This study provides a comprehensive review of the clinical features, comorbidities and multidisciplinary management of a well-characterized cohort of females with classical Rett syndrome. We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene in most affected individuals. The Rett syndrome Multidisci

SUBMITTER: Vilvarajan S 

PROVIDER: S-EPMC10454341 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature