Biomarkers for Psychosis in Velocardiofacial Syndrome

描述(由申请人提供)：引起的心血管综合征(VCFS) 通过染色体22q1 1.2上的微缺失，与多个 先天性畸形、神经认知缺陷和神经精神病学表型 在儿童时期，高达65%的患者受到影响，包括ADHD， 对立的挑衅性障碍和焦虑。尽管高达30%的成年人 这种综合征会发展成精神分裂症(SZ)或双相情感障碍(BPD)， 目前我们还不了解儿童精神疾病与 VCFS的障碍和适应/心理社会功能的恶化或 情绪调节，可能预示着SZ或BPD的最终发病 青春期或成年期早期。我们假设受VCFS影响的子集 患有儿童精神障碍的受试者将在标志物上表现出缺陷 生物脆弱性(即，神经解剖异常和 眼睛跟踪、持续注意力和记忆力)与SZ有关 和/或BPD在普通人群中。我们预测，这部分儿童 年轻人将在三年的时间里表现出恶化的 适应性/心理社会功能或情绪调节，可能预示着最终的 SZ或BPD在成年期发病。我们预计这个项目将提供 一项基于临床的纵向研究的第一阶段数据 患有VCFS的儿童将被跟踪到成年，以确定最终的 每个患者的精神结局。因此，本文件中描述的目标 应用程序的设计是1)增加我们对自然的理解 VCFS儿童精神障碍史；2)评估推定的 精神病的生物标记物出现并共同出现在 患有VCFS的精神障碍儿童；以及3)探讨 受VCFS影响的儿童中生物标志物的存在对 适应能力/心理社会功能或情绪调节能力下降 时间到了。为了实现这些目标，将对儿童和青年进行全面评估 多个领域，包括神经心理功能，持续注意力， 眼球追踪表现、脑形态和临床症状。

DESCRIPTION (provided by applicant): Velocardiofacial syndrome (VCFS), caused by a microdeletion on chromosome 22q1 1.2, is associated with multiple congenital anomalies, neurocognitive deficits, and a neuropsychiatric phenotype duringchildhood that affects up to 65 percent of patients, and includes ADHD, oppositional defiant disorder and anxiety. Although up to 30 percent of adults with this syndrome develop schizophrenia (SZ) or bipolar disorder (BPD), currently we do not understand the relation between childhood psychiatric disorders in VCFS and the deterioration in adaptive/psychosocial functioning or mood regulation that may signal the eventual onset of SZ or BPD in late adolescence or early adulthood. We hypothesize that a subset of VCFS-affected subjects with child psychiatric disorders will demonstrate deficits on markers of biological vulnerability (i.e., neuroanatomic anomalies, and impairments in eye tracking, sustained attention and memory) that have been associated with SZ and/or BPD in the general population. We predict that this subset of children and youth will demonstrate, during a three year period, a deterioration in adaptive/psychosocial function or mood regulation that may signal the eventual onset of SZ or BPD in adulthood. We anticipate that this project will provide the first phase of data for a clinically based longitudinal study in which children with VCFS will be followed into adulthood to determine the eventual psychiatric outcome of each patient. Accordingly, the aims described in this application are designed 1) to increase our understanding of the natural history of child psychiatric disorders in VCFS; 2) to assess whether putative biomarkers for psychosis emerge and co-occur in a subset of psychiatrically-disordered children with VCFS; and 3) to explore the extent to which the presence of biomarkers in VCFS-affected children contribute to deterioration in adaptive/psychosocial functioning or mood regulation over time. To address these aims, children and youth will be assessed across multiple domains, including neuropsychological function, sustained attention, eye-tracking performance, brain morphology and clinical symptomatology.