ArticleFrontiers in psychiatry2025
Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions.
Article in Frontiers in psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Rare neurodevelopmental copy number variants (ND-CNVs) have been implicated in a range of psychiatric and neurodevelopmental conditions. Despite their known association with a range of behavioural outcomes, the role of ND-CNVs in eating disorders and related traits remains underexplored. This perspective synthesises current knowledge on the association between ND-CNVs, eating disorders and eating behaviour, highlighting the potential for research into ND-CNVs to provide insights into the genetic architecture of eating disorders. Initial CNV genome-wide association studies have been conducted for anorexia nervosa, and there is now a need to investigate the roles of ND-CNVs in larger samples and across a range of eating disorders. Population cohort studies, and genetic-first designs whereby individuals with a clinical genetic diagnosis undergo deep phenotyping, provide strong evidence for the impact of ND-CNVs on body mass index (BMI), with some ND-CNVs associated with increased BMI, and others decreased BMI relative to the population. Although there have been detailed characterisations of eating behaviour phenotypes in Prader-Willi Syndrome and 16p11.2 Deletion and Duplication Syndromes, overall population and genetic-first studies of the impact of ND-CNVs on eating behaviour and eating disorder risk have been limited. Key research gaps to overcome include the lack of relevant eating disorder phenotype data in large-scale cohorts, limited research into the mechanistic pathways between genotype and phenotypic outcome, and the need for research to include diverse populations. Cross-disciplinary collaboration will be essential to advance the field to enable the development of effective interventions and genetic counselling for eating behaviour and eating disorders.
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