STudy of Experiences of Eating behaviour in Rare genetic conditions

  • Research type

    Research Study

  • Full title

    STudy of Experiences of Eating behaviour in Rare genetic conditions (STEER)

  • IRAS ID

    309449

  • Contact name

    Samuel Chawner

  • Contact email

    ChawnerSJ@cardiff.ac.uk

  • Duration of Study in the UK

    2 years, 8 months, 30 days

  • Research summary

    Individuals with rare genetic conditions are an underrepresented group in research, and this leads to health inequalities within this clinical group. Engagement with stakeholder groups (Unique: Understanding Rare Chromosome and Gene Disorders) and early research findings indicate that individuals with certain rare genetic conditions are highly vulnerable to childhood eating difficulties and eating disorders. This has been further exacerbated by the COVID-19 pandemic. Individuals with 16p11.2 deletion syndrome are at high risk of obesity and emotional over-eating, whereas patients with 16p11.2 duplication syndrome tend to be very underweight, and they have been found to feel full too soon when they are eating.
    Although we know that there are eating abnormalities individuals with 16p11.2 deletion syndrome and 16p11.2 duplication syndrome, we do not yet understand the full nature of these problems, how they develop, and whether these are like eating problems seen in individuals with eating disorders who do not have a rare genetic condition. To answer this we will assess children and adults who have rare genetic conditions using established ‘gold standard’ eating disorder diagnostic assessments to characterise eating disorder profiles.
    The clinical importance of this work was recognised by the Medical Research Foundation who awarded this project funding via their competitive eating disorder fellowship scheme.
    This work will not only provide important information for families affected by rare genetic conditions but will lead to greater understanding of the causes and early signs of eating disorders more widely. We need research into child development in at risk groups, to identify early signs of eating disorders and to understand how eating disorders develop.

  • REC name

    Wales REC 2

  • REC reference

    22/WA/0042

  • Date of REC Opinion

    15 Feb 2022

  • REC opinion

    Favourable Opinion