Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium
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...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-06-01
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| Series: | Journal of Neurodevelopmental Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s11689-021-09373-2 |
| _version_ | 1818668011540709376 |
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| author | Lauren Schwartz Assumpta Caixàs Anastasia Dimitropoulos Elisabeth Dykens Jessica Duis Stewart Einfeld Louise Gallagher Anthony Holland Lauren Rice Elizabeth Roof Parisa Salehi Theresa Strong Bonnie Taylor Kate Woodcock |
| author_facet | Lauren Schwartz Assumpta Caixàs Anastasia Dimitropoulos Elisabeth Dykens Jessica Duis Stewart Einfeld Louise Gallagher Anthony Holland Lauren Rice Elizabeth Roof Parisa Salehi Theresa Strong Bonnie Taylor Kate Woodcock |
| author_sort | Lauren Schwartz |
| collection | DOAJ |
| description | 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, 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. |
| first_indexed | 2024-12-17T06:29:32Z |
| format | Article |
| id | doaj.art-a466c191ad0f4cdc8dfe5ffff5827f66 |
| institution | Directory Open Access Journal |
| issn | 1866-1947 1866-1955 |
| language | English |
| last_indexed | 2024-12-17T06:29:32Z |
| publishDate | 2021-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj.art-a466c191ad0f4cdc8dfe5ffff5827f662022-12-21T22:00:11ZengBMCJournal of Neurodevelopmental Disorders1866-19471866-19552021-06-0113111310.1186/s11689-021-09373-2Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial ConsortiumLauren Schwartz0Assumpta Caixàs1Anastasia Dimitropoulos2Elisabeth Dykens3Jessica Duis4Stewart Einfeld5Louise Gallagher6Anthony Holland7Lauren Rice8Elizabeth Roof9Parisa Salehi10Theresa Strong11Bonnie Taylor12Kate Woodcock13Foundation for Prader-Willi ResearchEndocrinology and Nutrition Department, Parc Taulí University Hospital, Parc Taulí Research and Innovation InstitutePsychological Sciences, Case Western Reserve UniversityVanderbilt Kennedy Center for Research on Human Development, Vanderbilt UniversitySection of Genetics & Inherited Metabolic Diseases, Children’s Hospital Colorado, University of Colorado Anschutz Medical CampusFaculty of Medicine and Health, University of SydneyTrinity College Dublin Trinity Translational Medicine Institute, St. James’s HospitalDepartment of Psychiatry, Cambridge Intellectual and Developmental Disabilities Research Group, University of CambridgeBrain and Mind Centre | Faculty of Health Sciences, The University of Sydney, Faculty of Medicine and HealthDepartment of Psychology and Human Development, Vanderbilt UniversityDivision of Endocrinology and Diabetes, Seattle Children’s, University of WashingtonFoundation for Prader-Willi ResearchDepartment of Psychiatry and Behavioral Sciences, Albert Einstein College of MedicineCentre for Applied Psychology, School of Psychology, University of BirminghamAbstract 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.https://doi.org/10.1186/s11689-021-09373-2Prader-Willi syndromeBehaviorHyperphagiaTemper outburstsAnxietyObsessive–compulsive |
| spellingShingle | Lauren Schwartz Assumpta Caixàs Anastasia Dimitropoulos Elisabeth Dykens Jessica Duis Stewart Einfeld Louise Gallagher Anthony Holland Lauren Rice Elizabeth Roof Parisa Salehi Theresa Strong Bonnie Taylor Kate Woodcock Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium Journal of Neurodevelopmental Disorders Prader-Willi syndrome Behavior Hyperphagia Temper outbursts Anxiety Obsessive–compulsive |
| title | Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium |
| title_full | Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium |
| title_fullStr | Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium |
| title_full_unstemmed | Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium |
| title_short | Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium |
| title_sort | behavioral features in prader willi syndrome pws consensus paper from the international pws clinical trial consortium |
| topic | Prader-Willi syndrome Behavior Hyperphagia Temper outbursts Anxiety Obsessive–compulsive |
| url | https://doi.org/10.1186/s11689-021-09373-2 |
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