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Published on: November 21, 2013
Neuropsychiatric features of Prader-Willi syndrome
Emily Shelkowitz1, Marie G Gantz2, Ty A Ridenour2
1Section of Genetics and Inherited Metabolic Disease, Department of Pediatrics, Children's Hospital Colorado, University of Colorado Anschutz Campus, Aurora, Colorado, USA.
Insights
Prader-Willi syndrome (PWS) is a genetic disorder. This study found anxiety and compulsive behaviors are persistent, and sleep disorders are linked to seizures in PWS patients.
Area of Science:
- Genetics and Neurology
- Neuropsychiatry
- Rare Diseases
Background:
- Prader-Willi syndrome (PWS) presents with varied symptoms from infancy to adulthood.
- Neuropsychiatric features, sleep disorders, and seizures are common concerns in PWS.
- Understanding the progression and associations of these features is crucial for patient care.
Purpose of the Study:
- To investigate the onset and progression of neuropsychiatric features in PWS.
- To explore associations between PWS neuropsychiatric features, sleep disorders, and seizures.
- To analyze the relationship between anxiety, compulsive behaviors, and other psychiatric diagnoses in PWS.
Main Methods:
- Utilized data from the Global PWS Registry (N=893).
- Analyzed the temporal aspects of neuropsychiatric features.
- Examined correlations between sleep disorders, seizures, and psychiatric symptoms.
Main Results:
- Seizures were more prevalent in the deletion subtype of PWS.
- Narcolepsy and cataplexy were more common in individuals with sleep-related seizures.
- Anxiety and compulsive behaviors are persistent, potentially early-onset features, with anxiety linked to comorbidities.
Conclusions:
- This study provides extensive characterization of sleep and neuropsychiatric issues in PWS.
- A novel association between sleep disorders and seizures in PWS is reported.
- Insights into the progression of these features offer valuable clinical information.
Abstract:
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.
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