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

A national survey of Rett syndrome: behavioural characteristics

Cianfaglione, Rina, Clarke, Angus John ORCID:, Kerr, Michael Patrick, Hastings, Richard P., Oliver, Chris, Moss, Jo, Heald, Mary and Felce, David John 2015. A national survey of Rett syndrome: behavioural characteristics. Journal of Neurodevelopmental Disorders 7 , 11. 10.1186/s11689-015-9104-y

Full text not available from this repository.


Background The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. Methods The achieved sample was 91 girls and women, aged from 4 to 47 years, of whom 71 were known to be MECP2 positive. The contrast group (n = 66), matched for age, gender, language and self-help skills, comprised individuals with six other syndromes associated with intellectual disability. Parental questionnaire measures of RTT specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. Results Hand stereotypies, breathing irregularities, night-time unrest and anxiety or inappropriate fear were commonly reported among the RTT sample. Problems of low mood were also reported as common. However, mood and interest and pleasure were no lower than found in the contrast group. In addition, self-injury was lower than in the contrast group and was associated with factors found to predict self-injury in other groups of people with severe intellectual disabilities. Conclusions There is variability in the manifestation of problem behaviours potentially associated with the syndrome across individuals, with some more severely affected in most areas than others. Some of this variability appears to be underpinned by genetic mutation.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: BioMed Central
ISSN: 1866-1955
Date of Acceptance: 4 February 2015
Last Modified: 22 Jul 2023 01:19

Citation Data

Cited 24 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item