IIM: Genetic and Clinical
Research type
Research Study
Full title
Intense Imagery Movements: Genetic and Clinical Associations
IRAS ID
222346
Contact name
Tammy Hedderly
Contact email
Sponsor organisation
Guys and St Thomas' NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
This project will investigate the potential presence of genetic risk factors and clinical presentation for a clinical subtype of Complex Motor Stereotypies (CMS) called Intense Imagery Movements (IIM). Children with IIM present with CMS (i.e. repetitive, seemingly non-functional movements) in the context of episodes of intense imagery. The study aims to find genetic associations to gain a better understanding of the underlying biological mechanisms of this CMS subtype, to facilitate the development of new therapies. To achieve this we will collect and isolate DNA from saliva from 50 children with IIM and their first degree relatives. We will perform whole-exome or whole-genome sequencing of the DNA from all family members. Using well-validated bioinformatic tools, we will identify inherited and spontaneous (de novo) genetic variants (both single base, small insertion-deletion, and larger copy number) in IIM probands. We will compare the rates of these mutation types in IIM to rates in a cohort of already sequenced control subjects, with/without other neurodevelopmental disorders, to determine whether a certain class of variant is enriched in probands; Indicating that risk genes overlapping these variants harbour genetic risk for IIM. Furthermore, we will look for variants that fall within the same gene or same network of genes in unrelated probands that is not seen in control subjects. This approach has been successful in identifying many risk genes for complex neuropsychiatric phenotypes (e.g. autism) and we expect will do the same for children with IIM. Additionally, we will gather information to inform clinical phenotyping of children with CMS with and without IIM, with the aim of gaining a greater understanding of the nature of stereotyped movements and neurodevelopmental profiles in this cohort. This will include collection of information about stereotypy severity, anxiety, mood, neurodevelopmental conditions (autism spectrum disorder and ADHD), imagery and quality of life.
REC name
London - Bloomsbury Research Ethics Committee
REC reference
18/LO/1312
Date of REC Opinion
19 Oct 2018
REC opinion
Further Information Favourable Opinion