Biomarkers for Psychosis in Velocardiofacial Syndrome

描述（由申请人提供）：速度心面综合征（VCFS），由 通过染色体22q11.2上的微缺失，与多个 先天性异常、神经认知缺陷和神经精神表型 在儿童时期影响高达65%的患者，包括多动症， 对立违抗性障碍和焦虑尽管有30%的成年人 这种综合征发展为精神分裂症（SZ）或双相情感障碍（BPD）， 目前，我们还不了解儿童精神病与 VCFS疾病和适应/心理社会功能恶化，或 情绪调节，可能标志着SZ或BPD的最终发作， 青春期或成年早期。我们假设一个受VCFS影响的子集 患有儿童精神障碍的受试者将表现出标记物的缺陷， 生物脆弱性（即，神经解剖学异常， 眼动追踪、持续注意力和记忆力），这些都与SZ相关 和/或BPD。我们预测这部分儿童 在三年的时间里，年轻人会表现出一种恶化， 适应/心理社会功能或情绪调节，可能标志着最终的 在成年期出现SZ或BPD。我们预计，该项目将提供 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 每一个病人的精神状态。因此，本文所述的目的 应用程序的目的是1）增加我们对自然的理解 VCFS中儿童精神疾病史; 2）评估是否存在假定的 精神病的生物标志物出现并共同出现在一个子集中， 精神障碍儿童VCFS;和3）探索的程度， 受VCFS影响的儿童中生物标志物的存在促成了这一点 适应/心理社会功能或情绪调节的恶化 时间为了实现这些目标，将对儿童和青年进行评估， 多个领域，包括神经心理功能，持续的注意力， 眼动跟踪性能、脑形态学和临床脑功能学。

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.