Families’ Experiences of Apert Syndrome: A Qualitative Approach
Research type
Research Study
Full title
A Qualitative Exploration into the Experiences of Families with a Child Diagnosed with Apert Syndrome: Parent and Child Perspectives.
IRAS ID
259850
Contact name
Rachel Shaw
Contact email
Sponsor organisation
Aston University
Duration of Study in the UK
0 years, 8 months, 31 days
Research summary
The aim of the proposed research is to explore families’ experiences of living with a diagnosis of Apert Syndrome, from the perspective of young people and their parents. Apert Syndrome is genetic condition in which skull bones fuse prematurely, affecting the shape of the head and face.
Due to the rare nature of Apert Syndrome the majority of previous research has combined data from a variety of craniofacial conditions and any specific research into Apert’s syndrome has focused on surgical and medical management of the condition. In addition research into quality of life and experiences have mainly been conducted within the adult population. Therefore, there is very little information into the wider experiences of children and families living with the syndrome and the impact this can have on quality of life (QoL).
Approximately four young people (aged 9-25) and their parents, recruited from Birmingham Children’s Hospital will be invited to take part in one qualitative interview each to discuss their experiences of living with Apert Syndrome within the family.
It is hoped that this study will to provide a basis for future research and inform the focus of clinical care.REC name
Yorkshire & The Humber - Sheffield Research Ethics Committee
REC reference
19/YH/0139
Date of REC Opinion
17 May 2019
REC opinion
Further Information Favourable Opinion