Please use this identifier to cite or link to this item: http://hdl.handle.net/1893/26474
Appears in Collections:Faculty of Social Sciences Journal Articles
Title: 22q11 deletion syndrome: Parents’ and children’s experiences of educational and healthcare provision in the United Kingdom
Author(s): Cohen, Wendy
McCartney, Elspeth
Crampin, Lisa
Keywords: 22q11 deletion syndrome
education
healthcare
Issue Date: Jun-2017
Citation: Cohen W, McCartney E & Crampin L (2017) 22q11 deletion syndrome: Parents’ and children’s experiences of educational and healthcare provision in the United Kingdom, Journal of Child Health Care, 21 (2), pp. 142-152.
Abstract: 22q11 deletion syndrome (22q11DS) is a genetic syndrome, prevalence around 1:4000–1:6000 live births, with a complex array of associated features, impacting on healthcare and educational support. This study reports the perceptions of families and individuals with 22q11DS in relation to these needs. Individuals and families of those with 22q11DS were approached though two national charities – the Max Appeal and 22Crew. An initial observational survey design was used to gather views via questions probing access to healthcare and educational experiences. Thirty-four responses were received and the data subjected to descriptive analysis. Over half of the respondents were diagnosed before the age of 1. Ninety-one percent reported ongoing difficulties with learning at school, compounded by school attendance being compromised as a result of medical interventions. Individuals reported engaging heavily with educational support and a high number of health professions (mean 9.5; mode 10). Age of diagnosis of 22q11DS ranged from birth to nine years. Families had ongoing concerns about aspects of education and healthcare services, and lack of knowledge and awareness of the difficulties faced by individuals with 22q11DS was raised. Healthcare and education providers should be aware of the range of services individuals required on a regular basis so as to provide a more holistic approach to care. 
DOI Link: http://dx.doi.org/10.1177/1367493516686203
Rights: Cohen W, McCartney E & Crampin L (2017) 22q11 deletion syndrome: Parents’ and children’s experiences of educational and healthcare provision in the United Kingdom, Journal of Child Health Care, 21 (2), pp. 142-152. Copyright © The Author(s) 2017. Reprinted by permission of SAGE Publications. https://doi.org/10.1177/1367493516686203

Files in This Item:
File Description SizeFormat 
Cohen_etal_JCHC2016_22q11_deletion_syndrome.pdf272.17 kBAdobe PDFView/Open



This item is protected by original copyright



Items in the Repository are protected by copyright, with all rights reserved, unless otherwise indicated.

If you believe that any material held in STORRE infringes copyright, please contact library@stir.ac.uk providing details and we will remove the Work from public display in STORRE and investigate your claim.