Cargando…

A national survey of Rett syndrome: behavioural characteristics

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 ye...

Descripción completa

Detalles Bibliográficos
Autores principales: Cianfaglione, Rina, Clarke, Angus, Kerr, Michael, Hastings, Richard P, Oliver, Chris, Moss, Jo, Heald, Mary, Felce, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351691/
https://www.ncbi.nlm.nih.gov/pubmed/25750686
http://dx.doi.org/10.1186/s11689-015-9104-y
_version_ 1782360359294730240
author Cianfaglione, Rina
Clarke, Angus
Kerr, Michael
Hastings, Richard P
Oliver, Chris
Moss, Jo
Heald, Mary
Felce, David
author_facet Cianfaglione, Rina
Clarke, Angus
Kerr, Michael
Hastings, Richard P
Oliver, Chris
Moss, Jo
Heald, Mary
Felce, David
author_sort Cianfaglione, Rina
collection PubMed
description 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.
format Online
Article
Text
id pubmed-4351691
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-43516912015-03-07 A national survey of Rett syndrome: behavioural characteristics Cianfaglione, Rina Clarke, Angus Kerr, Michael Hastings, Richard P Oliver, Chris Moss, Jo Heald, Mary Felce, David J Neurodev Disord Research 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. BioMed Central 2015-03-04 2015 /pmc/articles/PMC4351691/ /pubmed/25750686 http://dx.doi.org/10.1186/s11689-015-9104-y Text en © Cianfaglione et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Cianfaglione, Rina
Clarke, Angus
Kerr, Michael
Hastings, Richard P
Oliver, Chris
Moss, Jo
Heald, Mary
Felce, David
A national survey of Rett syndrome: behavioural characteristics
title A national survey of Rett syndrome: behavioural characteristics
title_full A national survey of Rett syndrome: behavioural characteristics
title_fullStr A national survey of Rett syndrome: behavioural characteristics
title_full_unstemmed A national survey of Rett syndrome: behavioural characteristics
title_short A national survey of Rett syndrome: behavioural characteristics
title_sort national survey of rett syndrome: behavioural characteristics
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351691/
https://www.ncbi.nlm.nih.gov/pubmed/25750686
http://dx.doi.org/10.1186/s11689-015-9104-y
work_keys_str_mv AT cianfaglionerina anationalsurveyofrettsyndromebehaviouralcharacteristics
AT clarkeangus anationalsurveyofrettsyndromebehaviouralcharacteristics
AT kerrmichael anationalsurveyofrettsyndromebehaviouralcharacteristics
AT hastingsrichardp anationalsurveyofrettsyndromebehaviouralcharacteristics
AT oliverchris anationalsurveyofrettsyndromebehaviouralcharacteristics
AT mossjo anationalsurveyofrettsyndromebehaviouralcharacteristics
AT healdmary anationalsurveyofrettsyndromebehaviouralcharacteristics
AT felcedavid anationalsurveyofrettsyndromebehaviouralcharacteristics
AT cianfaglionerina nationalsurveyofrettsyndromebehaviouralcharacteristics
AT clarkeangus nationalsurveyofrettsyndromebehaviouralcharacteristics
AT kerrmichael nationalsurveyofrettsyndromebehaviouralcharacteristics
AT hastingsrichardp nationalsurveyofrettsyndromebehaviouralcharacteristics
AT oliverchris nationalsurveyofrettsyndromebehaviouralcharacteristics
AT mossjo nationalsurveyofrettsyndromebehaviouralcharacteristics
AT healdmary nationalsurveyofrettsyndromebehaviouralcharacteristics
AT felcedavid nationalsurveyofrettsyndromebehaviouralcharacteristics