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

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）：普瑞德威利综合征 (PWS) 长期以来的特点是食欲过盛、食物痴迷和 受影响个体肥胖的风险增加。 虽然少了 描述得很清楚，许多患有 PWS 的人表现出的强迫症和强迫症并不 与食物以及显着的行为功能障碍有关。 这 拟议的研究将检查这些强迫观念、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 识别强迫症的发作、过程和现象 PWS 的症状，以及这些症状与强迫症儿童的关系 障碍（强迫症）。 PWS 被假设代表特定的临床 强迫症的亚型，为基因组印记或 PWS 开辟了可能的作用 描绘这些亚型的关键区域。 假设 PWS 的强迫症具有异常的早发性，并且其显着特征 PWS 认知行为表型的研究可能提供新的线索 强迫症表现在幼儿身上。 早发性强迫症是 也可能与食欲亢进和规范的方面有关 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。 拟议的研究假设 全血血清素会介导症状表达，而微妙的 患有以下疾病的 PWS 受试者可能会出现症状差异： 15q11-q13 处父源性缺失与母源性缺失相比 15号染色体的单亲二体性。第三，研究人员的目的是 确定 PWS 强迫症相对于儿童的独特性 患有威廉姆斯综合症（WS）和唐氏综合症（DS）。 WS 是一个特别 强大的对照组，因为它的特点是焦虑增加和 强迫性思维。 这三个目标将通过两种方式实现：1）a 对 60 名 2 至 7 岁患有 PWS、WS 和 DS 儿童的纵向研究 测试两次，相隔两年； 2) 对 35 项的横断面研究 10-14 岁患有 PWS 的儿童与患有 WS、DS、 以及适当匹配的强迫症儿童。 研究结果将带来新的启示 治疗、强迫症的某些亚型以及范围和相关性 PWS 的复杂行为表型。