Behavioral features in Prader-Willi syndrome (PWS) : consensus paper from the International PWS Clinical Trial Consortium
Schwartz, Lauren (University of Washington School of Medicine. Department of Rehabilitation Medicine)
Caixàs i Pedragós, Assumpta (Universitat Autònoma de Barcelona. Departament de Medicina)
Dimitropoulos, Anastasia (Case Western Reserve University. Psychological Sciences)
Dykens, Elisabeth (Vanderbilt University. Vanderbilt Kennedy Center for Research on Human Development)
Duis, Jessica (University of Colorado Anschutz Medical Campus. Section of Genetics & Inherited Metabolic Diseases, Children's Hospital Colorado)
Einfeld, Stewart (University of Sydney. Faculty of Medicine and Health)
Gallagher, Louise (St. James's Hospital ( Dublín, Irlanda))
Holland, Anthony (University of Cambridge. Department of Psychiatry, Cambridge Intellectual and Developmental Disabilities Research Group)
Rice, Lauren (The University of Sydney, Faculty of Medicine and Health. Brain and Mind Centre)
Roof, Elizabeth (Vanderbilt University. Department of Psychology and Human Development)
Salehi, Parisa (University of Washington. Division of Endocrinology and Diabetes, Seattle Children's)
Strong, Theresa (University of Alabama at Birmingham. Department of Genetics)
Taylor, Bonnie (Albert Einstein College of Medicine. Department of Psychiatry and Behavioral Sciences)
Woodcock, Kate (University of Birmingham. Centre for Applied Psychology, School of Psychology)

Date:	2021
Abstract:	Prader-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, ) 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.
Note:	Altres ajuts: Foundation for Prader-Willi Research
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Prader-Willi syndrome ; Behavior ; Hyperphagia ; Temper outbursts ; Anxiety ; Obsessive-compulsive ; Rigidity ; Social cognition ; Patient vignettes
Published in:	Journal of Neurodevelopmental Disorders, Vol. 13 (june 2021) , ISSN 1866-1955

DOI: 10.1186/s11689-021-09373-2
PMID: 34148559

13 p, 747.7 KB

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