22q11 deletion syndrome: parents' and children's experiences of educational and healthcare provision in the UK

Wendy Cohen, Elspeth McCartney, Lisa Crampin

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Objective: 22q11DS is a genetic syndrome, prevalence around 1:4000-1:6000 livebirths, 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.
Design: 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.
Results: 34 responses were received and the data subjected to descriptive analysis. Over half of respondents were diagnosed before the age of 1. 91% 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).
Conclusions: Age of diagnosis of 22q11Ds ranged from birth to 9 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.
LanguageEnglish
JournalJournal of Child Health Care
Early online date18 Jan 2017
DOIs
Publication statusE-pub ahead of print - 18 Jan 2017

Fingerprint

22q11 Deletion Syndrome
parents
Parents
Delivery of Health Care
Education
Charities
Health Occupations
experience
Health Personnel
school attendance
Learning
Parturition
holistic approach
appeal
education
profession
lack
health
Surveys and Questionnaires
school

Keywords

  • 22q11 deletion syndrome
  • healthcare
  • education
  • genetic syndrome
  • families
  • holistic approach
  • educational support
  • school attendance
  • medical interventions

Cite this

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title = "22q11 deletion syndrome: parents' and children's experiences of educational and healthcare provision in the UK",
abstract = "Objective: 22q11DS is a genetic syndrome, prevalence around 1:4000-1:6000 livebirths, 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.Design: 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. Results: 34 responses were received and the data subjected to descriptive analysis. Over half of respondents were diagnosed before the age of 1. 91{\%} 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). Conclusions: Age of diagnosis of 22q11Ds ranged from birth to 9 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.",
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22q11 deletion syndrome : parents' and children's experiences of educational and healthcare provision in the UK. / Cohen, Wendy; McCartney, Elspeth; Crampin, Lisa.

In: Journal of Child Health Care, 18.01.2017.

Research output: Contribution to journalArticle

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N2 - Objective: 22q11DS is a genetic syndrome, prevalence around 1:4000-1:6000 livebirths, 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.Design: 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. Results: 34 responses were received and the data subjected to descriptive analysis. Over half of respondents were diagnosed before the age of 1. 91% 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). Conclusions: Age of diagnosis of 22q11Ds ranged from birth to 9 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.

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