Nature and Frequency of Genetic Abnormalities and Associated Phenotypes in a Cohort of Adults with Intellectual Disability

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Oct 4, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the genetic causes of intellectual disabilities (ID) in adults. Intellectual disability is defined as having an IQ below 70 and significant challenges in daily living skills that appear before age 18. The study aims to look at the genetic abnormalities in about 1,000 adults over the age of 20 who have been diagnosed with ID. By examining these genetic factors, researchers hope to gain a clearer picture of how often different genetic causes occur and how they relate to the symptoms and challenges these individuals face.

To participate in this study, individuals must be over 20 years old, have a confirmed diagnosis of intellectual disability, and have been seen by a healthcare provider between 2016 and 2025. Importantly, they must also agree to participate, or if they are unable to, their guardian must provide consent. Participants can expect that their personal information will be kept private and secure, and their data will be used to help improve understanding of intellectual disabilities and their genetic links. This research is not currently recruiting participants but aims to contribute valuable insights into the genetic factors associated with intellectual disabilities.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Patient over 20 years of age with a proven intellectual disability,
• • 2. Patient seen in consultation between 2016 and 2025
• • 3. No objection from the patient or, where applicable, the guardian
• Exclusion Criteria:
• • 1. Medical file not available
• • 2. Opposition from the patient or, where applicable, the guardian.