The Journal of clinical endocrinology and metabolism · 2026
Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Diene Gwenaëlle, Benvegnu Grégoire, Brochado Cathy, Clerc Alice, Jouret Béatrice, Montastier Emilie, Grunenwald Solange, Poitou Christine, Heron Delphine, des Portes Vincent, Cohen David, Consoli Angèle, Demily Caroline, Burglen Lydie, Afenjar Alexandra, Valette Marion, Tauber Maithé
Аннотация
CONTEXT: 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.
OBJECTIVES: To measure ghrelin levels, hyperphagia and caregiver burden in rare NDDs patients to understand pathophysiology and improve care.
DESIGN: A single-visit, noninterventional, national, multicenter, cross-sectional study.
SETTING: Seven French reference centers for rare NDDs participated.
PATIENTS: 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: "PWS" (n = 153), "Obese" (n = 49), and "Lean" (n = 31) groups.
MAIN OUTCOME MEASURE(S): The primary endpoint was ghrelin level (total, acylated, unacylated). The first secondary endpoint was hyperphagia questionnaire (HQ) scores.
RESULTS: 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 < .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.
CONCLUSION: 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.
OBJECTIVES: To measure ghrelin levels, hyperphagia and caregiver burden in rare NDDs patients to understand pathophysiology and improve care.
DESIGN: A single-visit, noninterventional, national, multicenter, cross-sectional study.
SETTING: Seven French reference centers for rare NDDs participated.
PATIENTS: 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: "PWS" (n = 153), "Obese" (n = 49), and "Lean" (n = 31) groups.
MAIN OUTCOME MEASURE(S): The primary endpoint was ghrelin level (total, acylated, unacylated). The first secondary endpoint was hyperphagia questionnaire (HQ) scores.
RESULTS: 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 < .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.
CONCLUSION: 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.