Participants were between the ages of 4-19, living in England or Wales, and had to meet the eligibility criteria. These criteria included: i) having an intellectual disability; ii) having had a diagnostic microarray by an accredited Regional Genetic Centre, or has had next-generation sequencing; iii) having at least one Copy Number Variant or Single Nucleotide Variant reported as pathogenic; iv) having a legal guardian available to consent and provide detailed medical and behavioural history. Participants were either in the Cardiff University Sample with longer and more detailed in-person interviews involving the whole family, or in the University College London Sample with shorter and more frequent online interviews.
Study design
Cohort, Cohort - clinical
Number of participants at first data collection
3,402 (UCL Sample)
520 (Cardiff University Sample)
Age at first data collection
4 - 19 years (participants)
Participant year of birth
Varied (participants)
Participant sex
All
Representative sample at baseline?
The UK national population based on index of multiple deprivation quintiles
Sample features
Countries
Year of first data collection
2014
Primary Institutions
Cardiff University
University College London (UCL)
Links
Profile paper DOI
Funders
Medical Research Council (MRC)
Medical Research Foundation
Ongoing?
Yes
Data types collected
Engagement
Keywords
Consortia and dataset groups