Distinctive Endocrine Profiles and Hyperphagia in Rare Genetic Neurodevelopmental Disorders: Beyond the Prader-Willi Paradigm

Circulating hyperghrelinemia is confirmed as a specific biomarker of Prader-Willi Syndrome (PWS) rather than a general feature of rare genetic neurodevelopmental disorders (NDDs).
Non-PWS rare NDD patients exhibit ghrelin levels comparable to patients with simple obesity, despite presenting with high scores of hyperphagia.
Hyperphagia in children with rare NDDs is more prevalent and severe than in children with PWS, indicating distinct underlying pathophysiological mechanisms.
Caregiver burden, measured by the Zarit Burden Interview (ZBI), is significantly high in families of patients with rare NDDs and is directly correlated with the severity of the patient’s hyperphagia.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.

Circulating hyperghrelinemia is confirmed as a specific biomarker of Prader-Willi Syndrome (PWS) rather than a general feature of rare genetic neurodevelopmental disorders (NDDs).
Non-PWS rare NDD patients exhibit ghrelin levels comparable to patients with simple obesity, despite presenting with high scores of hyperphagia.
Hyperphagia in children with rare NDDs is more prevalent and severe than in children with PWS, indicating distinct underlying pathophysiological mechanisms.
Caregiver burden, measured by the Zarit Burden Interview (ZBI), is significantly high in families of patients with rare NDDs and is directly correlated with the severity of the patient’s hyperphagia.

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