Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium

Journal of Neurodevelopmental Disorders

Lauren Rice¹  Kate Woodcock²  Bonnie Taylor³  Anthony Holland⁴  Elizabeth Roof⁵  Parisa Salehi⁶  Assumpta Caixàs⁷  Stewart Einfeld⁸  Theresa Strong⁹  Lauren Schwartz^1,10  Anastasia Dimitropoulos^1,11  Jessica Duis^1,12  Louise Gallagher^1,13  Elisabeth Dykens^1,14 

[1] Brain and Mind Centre

[2]  Faculty of Health Sciences, The University of Sydney, Faculty of Medicine and Health, Camperdown, NSW, Australia;Centre for Applied Psychology, School of Psychology, University of Birmingham, Edgbaston, Birmingham, UK;Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY, USA;Department of Psychiatry, Cambridge Intellectual and Developmental Disabilities Research Group, University of Cambridge, Cambridge, UK;Department of Psychology and Human Development, Vanderbilt University, Nashville, TN, USA;Division of Endocrinology and Diabetes, Seattle Children’s, University of Washington, Seattle, WA, USA;Endocrinology and Nutrition Department, Parc Taulí University Hospital, Parc Taulí Research and Innovation Institute, Sabadell, Spain;Medicine Department, Autonomous University of Barcelona, Sabadell, Spain;Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, Australia;Foundation for Prader-Willi Research, Walnut, CA, USA;Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA;Foundation for Prader-Willi Research, Walnut, CA, USA;Department of Rehabilitation Medicine, University of Washington School of Medicine, Seattle, WA, USA;Psychological Sciences, Case Western Reserve University, Cleveland, OH, USA;Section of Genetics & Inherited Metabolic Diseases, Children’s Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO, USA;Trinity College Dublin Trinity Translational Medicine Institute, St. James’s Hospital, 8, Dublin, Ireland;Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN, USA;

关键词: Prader-Willi syndrome;    Behavior;    Hyperphagia;    Temper outbursts;    Anxiety;    Obsessive–compulsive;    Rigidity;    Social cognition;    Patient vignettes;   

DOI  :  10.1186/s11689-021-09373-2

来源: Springer

【 摘 要 】

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, 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.

【 授权许可】

CC BY