OBSESSIONS & COMPULSIONS: PRADER-WILLI & OTHER SYNDROMES

描述（改编自申请人摘要）：Prader-Willi综合征 (PWS)长期以来，其特征是食欲过盛，食物强迫症， 增加受影响个体的肥胖风险。 尽管较不 描述得很好，许多患有PWS的人表现出强迫症和强迫症， 与食物有关，以及严重的行为功能障碍。 的 一项拟议的研究将研究这些强迫观念、强迫行为和其他 适应不良的特征，填补了长期存在的行为研究空白， 这种复杂的发育障碍 为此，研究人员建议 来确定强迫症的发病、病程和现象学， PWS中的症状，以及这些症状与强迫症儿童的关系 强迫症（OCD） 假设PWS代表一种特定的临床 强迫症的亚型，开放基因组印记或PWS的可能作用 关键区域在划分这些亚型。 它是假设 PWS中的强迫性具有不寻常的早发性， PWS认知行为表型的研究可能会为我们提供新的线索， 强迫症表现在幼儿身上。 早发性强迫症 也可能与食欲过盛和正常饮食有关。 发展 第二个目标是确定PWS中可能的机制， 调解强迫性的表达。 这项研究假设， 全血血清素会调节症状的表达， 在PWS受试者中可以看到症状的差异， 15 q11-q13的父源性缺失与母源性缺失 15号染色体的单亲二体性。 第三，调查人员的目标是 确定PWS相对于儿童的强迫性的独特性 患有威廉姆斯综合征（WS）和唐氏综合征（DS）。 WS是一个特别 强大的对比组，因为它的特点是增加焦虑， 强迫性思维 这三个目标将通过两种方式实现： 对60名2至7岁的PWS、WS和DS儿童进行了纵向研究， 两次测试，间隔两年; 2）35人的横断面研究 将10-14岁PWS儿童与WS、DS 与患有强迫症的儿童进行适当的配对。 调查结果将为我们 对治疗，对某些亚型的强迫症，以及对范围和相关性， PWS的复杂行为表型。

DESCRIPTION (adapted from the applicant's abstract): Prader-Willi syndrome (PWS) has long been characterized by hyperphagia, food obsessions, and increased risks of obesity in affected individuals. Although less well-described, many people with PWS show obsessions and compulsions not related to food, as well as significant behavioral dysfunction. The proposed study will examine these obsessions, compulsions, and other maladaptive features, filling a long-standing behavioral research void in this complex developmental disorder. To this aim, the investigators propose to identify the onset, course, and phenomenology of obsessive-compulsive symptoms in PWS, and how these relate to children with obsessive-compulsive disorder (OCD). PWS is hypothesized to represent a specific clinical subtype of OCD, opening up possible roles for genomic imprinting or the PWS Critical Region in delineating these subtypes. It is hypothesized that compulsivity in PWS has an unusually early-onset, and that salient features of the PWS cognitive-behavioral phenotype may provide new clues into how compulsivity is expressed in young children. Early-onset compulsivity is also likely associated with aspects of hyperphagia and of normative development. The second aim is to identify possible mechanisms in PWS that mediate the expression of compulsivity. The proposed study hypothesizes that whole-blood serotonin will mediate symptom expression, and that subtle differences in symptoms may be seen across PWS subjects with paternally-derived deletions at 15q11-q13 versus those with maternal uniparental disomy of chromosome 15. Third, the investigators aim to determine the distinctiveness of compulsivity in PWS relative to children with Williams syndrome (WS), and Down syndrome (DS). WS is a particularly powerful contrast group as it is characterized by increased anxiety and obsessional thinking. The three aims will be addressed in two ways: 1) a longitudinal study of 60 children with PWS, WS, and DS aged 2 to 7 years who are tested twice, two years apart; and 2) a cross-sectional study of 35 children with PWS aged 10-14 years who are compared to subjects with WS, DS, and appropriately matched children with OCD. Findings will shed new light on treatment, on certain subtypes of OCD, and on the range and correlates of PWS' complex behavioral phenotype.