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.

中文翻译：

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Prader-Willi 综合征 (PWS) 的行为特征：来自国际 PWS 临床试验联盟的共识文件

Prader-Willi 综合征 (PWS) 是一种罕见的神经发育遗传性疾病，与特征性行为表型相关，包括严重的食欲过盛和各种其他行为挑战，如脾气暴躁和焦虑。这些行为对 PWS 患者及其家人的日常功能和生活质量具有重大而显着的影响。迄今为止，解决这些行为挑战的有效疗法已被证明是难以捉摸的，但有几种潜在的治疗方法即将出现。然而，PWS 治疗研究的一个限制因素是该领域缺乏关于如何最好地定义和测量该综合征复杂且相互关联的行为特征的共识。国际 PWS 临床试验联盟（PWS-CTC，www.pwsctc.org）包括专家 PWS 科学家、临床医生、和患者倡导组织代表专注于促进这种罕见疾病的临床试验。为了解决该领域的上述差距，PWS-CTC“行为结果工作组”的成员试图对 PWS 的关键行为特征形成统一的理解，并就其定义和描述达成共识。本文的主要重点是提出关键表型 PWS 行为的共识定义和描述，包括进食过多、脾气暴躁、焦虑、强迫行为、僵化和社会认知缺陷。提供患者小插曲来说明这些行为的相互关联和影响。我们还审查了一些可用的评估工具以及开发中的新工具，它们可能有助于衡量 PWS 中的这些行为特征。