Down syndrome database and best practice guidelines
Research type
Research Study
Full title
Improving life expectancy and quality of life for children born with Down syndrome, developing best practice guidelines in response to changing patterns in diagnosis, treatment and survival.
IRAS ID
328514
Contact name
Orla Megraw
Contact email
Clinicaltrials.gov Identifier
N/A, Project will be pre-registered on OSF Registries once ethical clearance has been obtained
Duration of Study in the UK
1 years, 5 months, 3 days
Research summary
Improving medical treatments, especially in the outcomes of congenital heart surgery means that the lifetime prevalence of Down Syndrome (DS) is increasing substantially as the global population grows. There are approximately 40,000 people currently living with in the U.K. with Down syndrome and current data suggests that the prevalence is at least remaining static.
This research aims to review the co-morbidities of all people born with Down Syndrome in Northern Ireland over a 33 year period from 1990-2023. The research aims to identify which co-morbidities are associated with increased mortality and also to identify whether guidelines for screening for these conditions are being met as well as the costs associated with this screening.
This review will focus primarily on cardiac conditions and patients will be identified via cardiology department and genetic laboratory records however the project will extend to other conditions such as pulmonary hypertension, obstructive sleep apnoea, epilepsy, hypothyroidism, coeliac disease, learning difficulties, autism, ADHD (attention deficit hyperactivity disorder), hearing impairment, visual impairment, duodenal atresia, transient leukaemia of DS, arthritis, atlantoaxial instability otitis media with effusion, reflux, depression, diabetes, increased susceptibility to infection and dementia.
A questionnaire will also be sent to study participants to obtain data such as educational attainment and employment status as well as to review quality of life.
A subset of the group, aged 11-21 years will be chosen to wear a 'GENEActiv' activity monitor device to compare reported and actual levels of activity. When completing the questionnaire, participants aged from 11 to 21 years will be asked to indicate if they would be willing to participate in another element of the study which involves wearing an activity monitor.
REC name
HSC REC A
REC reference
24/NI/0113
Date of REC Opinion
12 Nov 2024
REC opinion
Further Information Favourable Opinion