Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder characterised by intellectual disability, emotional dysregulation and importantly, marked overeating behaviour. The hypothalamus controls food intake and satiety by endocrine control, and evidence from animal studies has shown that lesions of the hypothalamic nuclei result in hyperphagia. However, studies examining the hypothalamus in humans in vivo are scarce. We show here significantly lower volumes of the hypothalamus and hypothalamic nuclei in PWS compared to healthy controls and general population obese individuals. Our findings are strongly suggestive that impaired appetite control and problematic eating behaviours are a consequence of abnormal hypothalamic structure in PWS.
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