Medical care of adolescents and women with Rett syndrome: An Italian study

Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Miriam Savini, Francesca Cogliati, Silvia Russo, Maria Paola Canevini

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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, especially among those in Southern Europe. The aim of our study is to evaluate the main clinical features and state of health of adult Italian patients with RTT and to present their evolution over time, identifying major clinical issues present at different ages. A total of 130 families of patients with RTT aged ≥14 years were asked to complete a questionnaire, 84 of which were returned (65%). Among the clinical characteristics of RTT, stereotypies and poor hand function and feeding ability remained stable over time, while nonverbal communication tended to improve. With regard to the main pathologies, sleep, behavioral, and autonomic disorders persisted into adulthood, while epilepsy improved and musculoskeletal problems worsened. In our sample, older patients with R294X and R133C mutations and with C-terminal deletions showed lower levels of clinical severity. The development of guidelines for the clinical management of patients with RTT will assist health care providers in dealing with the complex RTT phenotype. More extensive data about the long-term course of the condition could help in the design of programs for secondary prevention of disabilities for younger females affected by the syndrome.

Original languageEnglish
Pages (from-to)13-18
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number1
DOIs
Publication statusPublished - Jan 2012

Fingerprint

Rett Syndrome
Nonverbal Communication
Mutation
Aptitude
Secondary Prevention
Health Personnel
Comorbidity
Epilepsy
Sleep
Hand
Guidelines
Pathology
Phenotype
Survival
Health

Keywords

  • Adult phenotype
  • Clinical management
  • Comorbidities
  • Rett syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Vignoli, A., La Briola, F., Peron, A., Turner, K., Savini, M., Cogliati, F., ... Canevini, M. P. (2012). Medical care of adolescents and women with Rett syndrome: An Italian study. American Journal of Medical Genetics, Part A, 158 A(1), 13-18. https://doi.org/10.1002/ajmg.a.34367

Medical care of adolescents and women with Rett syndrome : An Italian study. / Vignoli, Aglaia; La Briola, Francesca; Peron, Angela; Turner, Katherine; Savini, Miriam; Cogliati, Francesca; Russo, Silvia; Canevini, Maria Paola.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 1, 01.2012, p. 13-18.

Research output: Contribution to journalArticle

Vignoli, Aglaia ; La Briola, Francesca ; Peron, Angela ; Turner, Katherine ; Savini, Miriam ; Cogliati, Francesca ; Russo, Silvia ; Canevini, Maria Paola. / Medical care of adolescents and women with Rett syndrome : An Italian study. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 1. pp. 13-18.
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