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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.
Orphanet Journal of Rare Diseases
|July 21, 2026
Summary
Individuals with MYT1L-related neurodevelopmental disorder (MRND) exhibit persistent hyperphagia and hunger, with reduced satiety. Adult patients frequently experience food cravings or addiction, unlike children with lower impulsivity.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- MYT1L-related neurodevelopmental disorder (MRND) presents with global delays, intellectual disability, behavioral issues, epilepsy, and early-onset obesity.
- Eating disturbances are noted in MRND but require detailed characterization for improved clinical management.
Purpose of the Study:
- To systematically characterize the eating behavior phenotype in individuals with molecularly confirmed MRND.
- To identify specific eating patterns and challenges associated with MRND to inform diagnosis and management.
Main Methods:
- A multicenter study involved 21 French-speaking individuals with confirmed MRND and overweight/obesity or eating disturbances.
- Validated questionnaires (HQ, Trousseau Impulsivity, CEBQ, FCQ-T-r, VAS) assessed eating behaviors, hyperphagia, impulsivity, and hunger.
- Results were compared with existing literature using the same instruments.
Main Results:
- Most patients displayed persistent hyperphagia, characterized by food-seeking behavior and preoccupation (HQ score: 25.9).
- The CEBQ indicated strong food attraction, reduced satiety, and rapid eating, with persistent hunger.
- Food impulsivity was less common in children (36%), contrasting with other obesity syndromes, while adults showed frequent food addiction (62.5%).
Conclusions:
- MRND is associated with a distinct eating profile: sustained hyperphagia, persistent hunger, and impaired satiety.
- Children with MRND show lower food impulsivity, whereas adults exhibit higher rates of food craving/addiction.
- Findings support early, multidisciplinary management and targeted interventions for MRND patients and their families.
