Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Ageing in Rett syndrome

Cianfaglione, R., Clarke, Angus John ORCID:, Kerr, Michael Patrick, Hastings, R.P., Oliver, C. and Felce, David John 2016. Ageing in Rett syndrome. Journal of Intellectual Disability Research 60 (2) , pp. 182-190. 10.1111/jir.12228

Full text not available from this repository.


Background The aim was to gain a UK national sample of people with Rett syndrome across the age range and (1) conduct a cross‐sectional comparison of age groups and (2) undertake a longitudinal follow‐up. Methods From 308 potential participants approached to take part, a sample of 91 girls and women was achieved (29.5%). Their ages ranged from 4 to 47 years, and 71 were known to have a mutation in the methyl‐CpG binding protein‐2 (MECP2) gene. Seventy‐two of the initial sample were followed up 16 months later, and 50 returned completed assessments (69.4%). Their ages ranged from 7 to 48 years, and 42 were MECP2 positive. Parental questionnaire measures of Rett syndrome specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self‐injury were administered. Results Adaptive behaviour and behavioural characteristics of Rett syndrome were similar across age groups and, where assessed, stable over time, as were repetitive behaviours generally and self‐injury. There was some suggestion of deterioration in health arising with ageing, principally contributed to by deteriorations in dental and gastro‐intestinal problems both with moderate effect sizes. Indicators of mood, interest and pleasure differed significantly across age groups. The total scale score significantly deteriorated over time, with a moderate effect size. Conclusions This study provides further evidence for the post‐regression stability that characterises Rett syndrome. Emergent low mood in Rett syndrome requires further research.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: ageing, intellectual disabilities, Rett syndrome
Publisher: Blackwell Publishing
ISSN: 0964-2633
Date of Acceptance: 21 August 2015
Last Modified: 22 Jul 2023 01:19

Citation Data

Cited 18 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item