Abstract
AbstractPrader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with a characteristic behavioral phenotype that includes severe hyperphagia and a variety of other behavioral challenges such as temper outbursts and anxiety. These behaviors have a significant and dramatic impact on the daily functioning and quality of life for the person with PWS and their families. To date, effective therapies addressing these behavioral challenges have proven elusive, but several potential treatments are on the horizon. However, a limiting factor for treatment studies in PWS is the lack of consensus in the field regarding how to best define and measure the complex and interrelated behavioral features of this syndrome. The International PWS Clinical Trials Consortium (PWS-CTC, www.pwsctc.org) includes expert PWS scientists, clinicians, and patient advocacy organization representatives focused on facilitating clinical trials in this rare disease. To address the above gap in the field, members of the PWS-CTC “Behavior Outcomes Working Group” sought to develop a unified understanding of the key behavioral features in PWS and build a consensus regarding their definition and description. The primary focus of this paper is to present consensus definitions and descriptions of key phenotypic PWS behaviors including hyperphagia, temper outbursts, anxiety, obsessive–compulsive behaviors, rigidity, and social cognition deficits. Patient vignettes are provided to illustrate the interrelatedness and impact of these behaviors. We also review some available assessment tools as well as new instruments in development which may be useful in measuring these behavioral features in PWS.
Funder
Foundation for Prader-Willi Research
Publisher
Springer Science and Business Media LLC
Subject
Cognitive Neuroscience,Clinical Neurology,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health
Reference96 articles.
1. Driscoll DJ, Miller JL, Schwartz S, Cassidy S. Prader-Willi syndrome. In: Adam M, Ardinger H, Pagon R, editors. GeneReviews; 2017.
2. Butler MG. Prader-Willi syndrome: obesity due to genomic imprinting. Curr Genomics. 2011;12(3):204–15. https://doi.org/10.2174/138920211795677877.
3. Tan Q, Orsso CE, Deehan EC, Triador L, Field CJ, Tun HM, et al. Current and emerging therapies for managing hyperphagia and obesity in Prader-Willi syndrome: a narrative review. Obes Rev. 2020;21(5):1–18. https://doi.org/10.1111/obr.12992. Epub 2019 Dec 30.
4. Dykens EM, Miller J, Angulo M, Roof E, Reidy M, Hatoum HT, et al. Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome. JCI Insight. 2018;3(12):1–11. https://doi.org/10.1172/jci.insight.98333.
5. Saniona. Co-administration of tesofensine/metoprolol in subjects with Prader-Willi syndrome (PWS). Available from: https://clinicaltrials.gov/ct2/show/NCT03149445. Cited 2021 Mar 31.
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