Healthcare experiences parent/carers of children with 22q deletion v1
Research type
Research Study
Full title
How can the healthcare experiences of parents of children with 22q deletion syndrome inform development or implementation of NHS integrated healthcare policy and practice.
IRAS ID
339734
Contact name
Charlotte Dack
Contact email
Sponsor organisation
Bath Ethics and Sponsorship department
Clinicaltrials.gov Identifier
To be confirmed, To be confirmed
Duration of Study in the UK
2 years, 0 months, days
Research summary
NHS policy and integrated care models aim to improve the experience and outcomes of care for patients (NHS England, 2021. The concept of integrated care is used interchangeably to refer to both macro healthcare system integration as well as bespoke personalised care that meets the needs of individual patients (Goodwin, 2016; Kodner, 2009).
The National Health Service (NHS) constitution states that everyone should receive equitable care but it is not clear whether the system changes being introduced will meet the care needs of patients with rare disease who have complex needs, such as those with rare diseases who often face multi-morbidity and chronic disease and disability across their lifetime (REF). Approximately one in 17 people in the UK have a rare disease (Department for Health and Social Care, 2025) and children are disproportionately represented, comprising 7 in every 10 people with a rare disease.
There is consistent evidence both nationally and internationally that access to care and medical information is compromised in this population (Bogart et al, 2022; Jones et al 2024) and they have a poor experience of care (Genetic Alliance, 2020). Existing integrated care models may not improve either the experience or outcome of care for people with rare diseases and complex needs, including those with intellectual disabilities (Social Care Institute for Excellence, 2018; King’s Fund, 2013; Genetic Alliance UK, 2016).
22q11.2 deletion syndrome is the second leading cause of intellectual disability after Down’s Syndrome (Bassett et al, 2011; Rauch et al, 2006) and is associated with multiple other physical and mental health conditions (McDonald-McGinn et al, 1999). This research will explore the parent/carer experience of healthcare for their child with 22q deletion syndrome. Interviews with parents will provide insight into healthcare experiences in the context of integrated healthcare models and patient-centred care for rare disease.
REC name
North West - Greater Manchester West Research Ethics Committee
REC reference
25/NW/0368
Date of REC Opinion
12 Dec 2025
REC opinion
Favourable Opinion