Healthcare professionals

IMAGINE ID is aiming to recruit over 5,000 families over a 5 year period. The study has been funded by the Medical Research Council.

The study is collecting genomic coordinates of all affected individuals who have had a molecular investigation into the cause of their intellectual disability (ID). Individuals with pathogenic Copy Number Variants (CNV) and/or Single Nucleotide Variants (SNV) that are thought to be the cause of the condition are eligible to join.

We are collecting information about children and young adults with ID from families using a secure, accredited online portal. We hope to learn about children’s development, behaviour, mental health and well-being, where a genetic cause underlies the diagnosis, using standardised assessments.

  • Eligibility
  • Recruitment
  • Questionnaires
  • Interviews
  • Study documents

Children 4 years and over with a diagnosed genetic condition and intellectual disability/developmental delay/learning difficulties are welcome to join the study. Adults with a parent/guardian willing to complete the assessments about them can now join the study as well.

Confirmation of each participant’s genomic coordinates (CNV or SNV) will be completed through access to medical records via Regional Genetics Laboratories. Families who do not have a genetics report from an NHS Genetics Laboratory will be asked to provide one when joining the study.

If you are unsure whether to refer a patient, please contact us directly on imagine.id@nhs.net

IMAGINE ID are currently recruiting through Regional Genetics Centres, as well as self-referred families and other channels. If you work at one of the participating Regional Genetics Centres and have eligible patients, please either contact us or the local research coordinator at your centre.

Study documents can be found here.

Once recruited, families will be asked to complete some questionnaires including the Development And Well Being Assessment (DAWBA), as well as their family and clinical history.

Detailed information for researchers and clinicians about the DAWBA can be found at www.dawba.com and a list of available translations for the questionnaire can be found here

The assessments will take about 3 hours in total, but families do not have to complete them all in one go. Their answers will be saved as they go along. If they cannot do this online, the IMAGINE ID team are happy to complete the questionnaires with them in person or over the phone.

Once the initial assessments have been completed, we will ask a few families if they would like to take part in a face-to-face meeting with the IMAGINE ID team for further detailed developmental and behavioural assessments. This will include some additional games, puzzles and tasks with the child and family.

Interviews typically take between 4-5 hours and are completed in the comfort and convenience of the family home.

 The study documents can be downloaded here

Below is the study’s current timeline

1
Phase 1 (completed)

In October 2014, IMAGINE ID was launched and established contact with 22 Regional Genetics Centres across the UK, as well as self-referred families. Recruitment opened for eligible families.

2
Phase 2 (completed)

By November 2015, initial online questionnaires with 500 families and 50 additional face-to-face assessments had been completed.

3
Phase 3 (active)

IMAGINE ID is currently in Phase 3- aiming to complete the recruitment and data analysis of over 5,000 families by October 2019.