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Peer-reviewedCC BYOrphanet Journal of Rare Diseases

Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires

  • Juliette Coursimault1
  • Emilie Guillon2
  • François Lecoquierre1
  • Camille Charbonnier1
  • Anne-Marie Guerrot1
  • Alice Goldenberg1
  • Gaël Nicolas1
  • Elise Schaefer3
  • Anael Ayrolles4
  • Richard Delorme4
  • Florence Riccardi5
  • Maude Grelet5
15 more authors
  • Roseline Caumes6
  • Mathilde Nizon7
  • Bertrand Isidor7
  • Guillaume Jouret8
  • Caroline Rooryck9
  • Jeanne Amiel10
  • Anne-Sophie Alaix10
  • Victor Morel11
  • Adeline Jacquinet12
  • Cyril Mignot13
  • Laurence Faivre14
  • Emilie Fraile-Caietta15
  • Sarah Chalopin2
  • Béatrice Dubern16
  • Christine Poitou2
16 affiliations
  1. 1Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen
  2. 2Nutrition Department, Reference Center for Rare Diseases PRADORT, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital
  3. 3Service de Génétique Médicale, Institut de Génétique Médicale d’Alsace (IGMA), Hôpitaux Universitaires de Strasbourg
  4. 4Department of Child and Adolescent Psychiatry, APHP.Nord, Robert Debré University Hospital, Paris Cité University
  5. 5Génétique Médicale, Centre Hospitalier Intercommunal Toulon - La Seyne- sur-Mer
  6. 6Université de Lille, CHU de Lille, Clinique de Génétique «Guy Fontaine»
  7. 7Service de Génétique Médicale, CHU Nantes
  8. 8National Center of Genetics (NCG), Laboratoire National de Santé (LNS)
  9. 9Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale
  10. 10Service de Médecine Génomique des Maladies Rares, Hôpital Necker- Enfants Malades, AP-HP
  11. 11Department of Medical Genetics, La Timone Hospital, AP-HM, La Timone Children’s Hospital
  12. 12Department of Genetics, Sart Tilman University Hospital
  13. 13Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP.Sorbonne Université
  14. 14Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy
  15. 15Service de pédiatrie, Centre Hospitalier de Toulon
  16. 16Sorbonne Université, Inserm, Nutrition and Obesities: Systemic Approaches, NutriOmique Research Group
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Abstract

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.

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Cite

BibTeXRIS
BibTeX
@article{coursimault2026eating,
  title = {{Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires}},
  author = {Juliette Coursimault and Emilie Guillon and François Lecoquierre and Camille Charbonnier and Anne-Marie Guerrot and Alice Goldenberg and Gaël Nicolas and Elise Schaefer and Anael Ayrolles and Richard Delorme and Florence Riccardi and Maude Grelet and Roseline Caumes and Mathilde Nizon and Bertrand Isidor and Guillaume Jouret and Caroline Rooryck and Jeanne Amiel and Anne-Sophie Alaix and Victor Morel and Adeline Jacquinet and Cyril Mignot and Laurence Faivre and Emilie Fraile-Caietta and Sarah Chalopin and Béatrice Dubern and Christine Poitou},
  journal = {Orphanet Journal of Rare Diseases},
  year = {2026},
  month = jul,
  doi = {10.1186/s13023-026-04497-x},
  url = {https://doi.org/10.1186/s13023-026-04497-x},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
AU  - Juliette Coursimault
AU  - Emilie Guillon
AU  - François Lecoquierre
AU  - Camille Charbonnier
AU  - Anne-Marie Guerrot
AU  - Alice Goldenberg
AU  - Gaël Nicolas
AU  - Elise Schaefer
AU  - Anael Ayrolles
AU  - Richard Delorme
AU  - Florence Riccardi
AU  - Maude Grelet
AU  - Roseline Caumes
AU  - Mathilde Nizon
AU  - Bertrand Isidor
AU  - Guillaume Jouret
AU  - Caroline Rooryck
AU  - Jeanne Amiel
AU  - Anne-Sophie Alaix
AU  - Victor Morel
AU  - Adeline Jacquinet
AU  - Cyril Mignot
AU  - Laurence Faivre
AU  - Emilie Fraile-Caietta
AU  - Sarah Chalopin
AU  - Béatrice Dubern
AU  - Christine Poitou
PY  - 2026
DA  - 2026/07/01
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-026-04497-x
UR  - https://doi.org/10.1186/s13023-026-04497-x
AB  - 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.
SN  - 1750-1172
ER  -