{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen",
    "Nutrition Department, Reference Center for Rare Diseases PRADORT, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital",
    "Service de Génétique Médicale, Institut de Génétique Médicale d’Alsace (IGMA), Hôpitaux Universitaires de Strasbourg",
    "Department of Child and Adolescent Psychiatry, APHP.Nord, Robert Debré University Hospital, Paris Cité University",
    "Génétique Médicale, Centre Hospitalier Intercommunal Toulon - La Seyne- sur-Mer",
    "Université de Lille, CHU de Lille, Clinique de Génétique «Guy Fontaine»",
    "Service de Génétique Médicale, CHU Nantes",
    "National Center of Genetics (NCG), Laboratoire National de Santé (LNS)",
    "Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale",
    "Service de Médecine Génomique des Maladies Rares, Hôpital Necker- Enfants Malades, AP-HP",
    "Department of Medical Genetics, La Timone Hospital, AP-HM, La Timone Children’s Hospital",
    "Department of Genetics, Sart Tilman University Hospital",
    "Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP.Sorbonne Université",
    "Université 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",
    "Service de pédiatrie, Centre Hospitalier de Toulon",
    "Sorbonne Université, Inserm, Nutrition and Obesities: Systemic Approaches, NutriOmique Research Group"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 27,
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      "name": "Juliette Coursimault"
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      "name": "Emilie Guillon"
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      "name": "François Lecoquierre"
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      "name": "Camille Charbonnier"
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      "name": "Alice Goldenberg"
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      "name": "Gaël Nicolas"
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      "name": "Elise Schaefer"
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      "name": "Anael Ayrolles"
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      "name": "Richard Delorme"
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      "name": "Florence Riccardi"
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      "name": "Maude Grelet"
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      "name": "Roseline Caumes"
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      "name": "Mathilde Nizon"
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      "name": "Bertrand Isidor"
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      "name": "Guillaume Jouret"
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      "name": "Emilie Fraile-Caietta"
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      "name": "Sarah Chalopin"
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      "name": "Béatrice Dubern"
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      "name": "Christine Poitou"
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  "bibtex": "https://research.draconitic.com/paper/4rb7feebv1sxj.bib",
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  "doi": "10.1186/s13023-026-04497-x",
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  "published": "2026-07-01",
  "publisher": "BMC",
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  "title": "Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires",
  "title_text": "Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:46:29Z",
  "url": "https://research.draconitic.com/paper/4rb7feebv1sxj",
  "venue": "Orphanet Journal of Rare Diseases",
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