OBSESSIONS & COMPULSIONS: PRADER-WILLI & OTHER SYNDROMES

痴迷

• 批准号: 2889406
• 负责人: ELISABETH MAY DYKENS
• 金额: $ 22.79万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-08-01 至 2002-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2889406
• 关键词: Downs syndrome; Prader Willi syndrome; Williams syndrome; adolescence (12-20); behavior test; behavioral /social science research tag; child (0-11); child behavior disorders; clinical research; compulsive behavior; disease /disorder onset; gene deletion mutation; human subject; interview; longitudinal human study; obsessive compulsive disorder; serotonin; sign /symptom; Downs syndrome; Prader Willi syndrome; Williams syndrome; adolescence (12-20); behavior test; behavioral /social science research tag; child (0-11); child behavior disorders; clinical research; compulsive behavior; disease /disorder onset; gene deletion mutation; human subject; interview; longitudinal human study; obsessive compulsive disorder; serotonin; sign /symptom

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.

描述（改编自申请人的摘要）：Prader-Willi综合征 （PWS）长期以来一直以女性，食物的痴迷和 受影响个体的肥胖风险增加。 虽然少 描述了很多，许多患有PW的人表现出强迫症和强迫 与食物以及严重的行为功能障碍有关。 这 拟议的研究将检查这些痴迷，强迫和其他 适应不良的特征，填补了长期的行为研究空隙 这种复杂的发育障碍。 为此，调查人员提出了 确定强迫症的发作，过程和现象学 PW中的症状，以及这些与强迫症的儿童有关 疾病（OCD）。 假设PWS代表特定的临床 强迫症的亚型，开放基因组印记或PWS的可能角色 描述这些亚型的关键区域。 假设 PWS中的强迫性具有异常早发，并且显着特征 PWS认知行为表型可以为如何提供新的线索 强迫性在幼儿中表达。 早期强迫性是 也可能与脾气和规范的方面有关 发展。 第二个目的是确定PWS中可能的机制 介导强迫性的表达。 拟议的研究假设 全血羟色胺将介导症状表达，而微妙 在PWS受试者中可能会看到症状的差异 与孕产妇的父子衍生的删除在15q11-Q13 染色体15染色体的单亲疾病。第三，研究人员的目的是 确定PW相对于儿童的强迫性的独特性 威廉姆斯综合症（WS）和唐氏综合症（DS）。 WS是一个特别 强大的对比组的特征是增加焦虑和 痴迷的思维。 这三个目标将通过两种方式解决：1）a 对60名PW，WS和DS的2至7岁儿童的纵向研究 经过两次测试，相距两年； 2）35的横断面研究 PW儿童10-14岁的儿童与WS，DS，DS的受试者进行了比较 并适当与强迫症的儿童相匹配。 调查结果将散发出新的光 治疗，在某些OCD的亚型上，以及与 PWS的复杂行为表型。