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Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using
Juliette Coursimault1, Emilie Guillon2,3, François Lecoquierre4
1Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, F-76000, France. j.coursimault@chu-rouen.fr.
Background:
The MYT1L-related neurodevelopmental disorder (MRND) is associated with global motor and language delay, intellectual disability, behavioural disturbances, epilepsy and frequent early-onset obesity. Eating disturbances have been reported but remain poorly characterized. A systematic characterization of the eating behaviour phenotype is essential to improve diagnosis and management.
Methods:
We conducted a multicentre study including 21 French-speaking individuals with a molecularly confirmed MRND and either overweight/obesity or eating behaviour disturbances. Eating behaviours were reported by relatives using validated questionnaires widely employed in rare obesity research: the Dykens Hyperphagia Questionnaire (HQ), the Trousseau Impulsivity Questionnaire, the Children's Eating Behaviour Questionnaire (CEBQ), the Food Cravings Questionnaire-Trait-reduced (FCQ-T-r, adults only), and a Visual Analogue Scale (VAS) for hunger. When available, questionnaire results were compared with published studies using the same instruments.
Results:
Persistent hyperphagic behaviours were identified in the majority of patients, with the HQ questionnaire highlighting sustained food-seeking behaviours and pervasive food preoccupation. The mean global score was 25.9, indicating a moderate yet sustained hyperphagic profile. CEBQ revealed a strong attraction to food combined with reduced satiety responsiveness and rapid eating. Hunger was reported as persistent throughout the day. In children food impulsivity was less frequent (5/14; 36%) and no correlation was found between impulsivity and hyperphagia severity, contrasting with findings in other obesity syndromes. Among adults, 62.5% had scores suggestive of food addiction (FCQ-T-r ≥ 50).
Conclusion:
This study delineates an eating behaviour profile in a symptom-enriched subgroup of individuals with MRND, characterized by moderate but sustained hyperphagia, persistent hunger, impaired satiety, low food-related impulsivity in children but frequent food craving/addiction in adults. These findings support early, age-adapted and multidisciplinary management strategies and highlight the need for targeted interventions to reduce the burden on affected individuals and families.
