Neuropsychiatric features of Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypotonia and poor feeding in infancy which progresses to hyperphagia in early-mid childhood, as well as developmental delays, a spectrum of behavioral and psychiatric concerns, endocrinopathies, orthopedic issues, and less commonly, seizures, sleep apnea, and narcolepsy with or without cataplexy. This study used data in the Global PWS Registry (N = 893) to explore the onset and severity over time of the neuropsychiatric features reported in individuals with PWS and explored its associations with sleep disorders, seizures, and psychiatric symptoms. Results demonstrate that seizures are more common in the deletion subtype and that narcolepsy and cataplexy are more common in individuals who have sleep-related seizures. Finally, this work shows that anxiety and compulsive behaviors are persistent features of PWS that may arise early in childhood, and that anxiety is associated with higher frequency of other comorbid psychiatric diagnoses. In conclusion, this study is one of the largest to date characterizing sleep disorders and neuropsychiatric characteristics of individuals with PWS and reports on the novel association between sleep disorders and seizures. This study is also one of the first to offer details on the nature of the progression of these features in individuals with PWS.

Automated summary

Prader-Willi syndrome is a genetic disorder with various characteristics and symptoms, including hypotonia, feeding difficulties, developmental delays, behavioral and psychiatric issues, endocrine disorders, etc. This study used data from the Global PWS Registry to explore the onset and severity of neuropsychiatric features in PWS individuals over time, and its associations with sleep disorders, seizures, and psychiatric symptoms. The study found that seizures are more common in the deletion subtype, while narcolepsy and cataplexy are more common in individuals with sleep-related seizures. The study also showed that anxiety and compulsive behaviors are persistent features of PWS and are associated with a higher frequency of comorbid psychiatric diagnoses.