Article
Medical care of adolescents and women with Rett syndrome: an Italian study.
American journal of medical genetics. Part A - 1 Jan 2012
Vignoli Aglaia, La Briola Francesca, Peron Angela, Turner Katherine, Savini Miriam, Cogliati Francesca, Russo Silvia, Canevini Maria Paola
Abstract excerpt
Rett syndrome (RTT) is a rare neurodevelopmental disorder, linked to MECP2 gene mutations in the majority of cases, which results in severe disability and is associated with several comorbidities. The clinical condition of RTT patients tends to stabilize over time, and prolonged survival has recently been demonstrated. However, limited information is available on the long-term course of older patients with RTT,...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Female
- Gene Deletion
- Guidelines as Topic
- Humans
- Infant
- Italy
- Methyl-CpG-Binding Protein 2
- Mutation
- Phenotype
- Rett Syndrome
- Surveys and Questionnaires
- Young Adult