{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T23:06:45Z","timestamp":1791241605876,"version":"4.1.0"},"reference-count":34,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T00:00:00Z","timestamp":1773187200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100016494","name":"Millendo Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016494","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fili\u00e8re D\u00e9fiScience"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Hyperphagia, overweight, and obesity are frequent in people with rare neurodevelopmental disorders (NDDs). Prader-Willi syndrome (PWS) is a rare NDD with hyperphagia and hyperghrelinemia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To measure ghrelin levels, hyperphagia and caregiver burden in rare NDDs patients to understand pathophysiology and improve care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>A single-visit, noninterventional, national, multicenter, cross-sectional study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>Seven French reference centers for rare NDDs participated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>A total of 130 patients (43% children) with a rare genetic NDD (27 distinct conditions) were included. Their median age was 19.8 years. Three control groups were used for comparison: \u201cPWS\u201d (n = 153), \u201cObese\u201d (n = 49), and \u201cLean\u201d (n = 31) groups.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main outcome measure(s)<\/jats:title>\n                    <jats:p>The primary endpoint was ghrelin level (total, acylated, unacylated). The first secondary endpoint was hyperphagia questionnaire (HQ) scores.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Median total ghrelin levels were 76.7 (22.2-1110.9) pg\/mL; median acylated levels were 33.7 (8.0-754.3) pg\/mL; and median unacylated levels were 44.2 (11.5-356.6) pg\/mL, which were lower than the PWS group (P &amp;lt; .001) and no different from the Obese group. The mean HQ total score was 26.3 (10-46) for children and 24.0 (11-52) for adults. The HQ total score was statistically higher in children with NDDs and lower in adults compared to PWS. The mean Zarit Burden Interview score was 37.8 (6-74) in children and 37.6 (2-76) in adults, and was positively correlated with the HQ total score.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Ghrelin levels were normal in our study population. Hyperghrelinemia is a biomarker of PWS. Hyperphagia is more prevalent and severe in children with NDDs compared with PWS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgag081","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T12:47:49Z","timestamp":1773233269000},"page":"2220-2231","source":"Crossref","is-referenced-by-count":2,"title":["Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8970-0088","authenticated-orcid":false,"given":"Gwena\u00eblle","family":"Diene","sequence":"first","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence \u201cSPW et autres syndromes avec troubles du comportement alimentaire (PRADORT)\u201d, Centre Hospitalier Universitaire de Toulouse , Toulouse 31300 ,","place":["France"]},{"name":"Axe P\u00e9diatrique du CIC 9302\/INSERM, H\u00f4pital des Enfants , Toulouse 31300 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