We will ascertain study subjects, age 6 and older, from our existing registry ( 3q29deletion.org ). Participants and their families will travel to Atlanta, GA for phenotypic assessments, with particular emphasis on evaluation of anxiety, cognitive ability, autism symptomatology, and risk for psychosis via prodromal symptoms and syndromes. Evaluations will be performed using standardized instruments. Structural, diffusion, and resting-state functional MRI data will be collected from eligible study participants. We will also collect blood from the 3q29 deletion carrier and participating family members, to be banked at the NIMH Repository and Genomics Resource (NRGR).
The study of 3q29 deletion has the potential to transform our understanding of complex disease. Study of individuals with the deletion may provide insights into long term care and management of the disorder. Our project describes the protocol for a prospective study of the behavioral and clinical phenotype associated with 3q29 deletion syndrome. The paradigm described here could easily be adapted to study additional CNV or single gene disorders with high risk for neuropsychiatric phenotypes, and/or transferred to other study sites, providing a means for data harmonization and cross-disorder analysis.
我们将确定研究对象,6岁及以上,从我们现有的注册表(3q29deletion.org)。参与者和他们的家人将前往亚特兰大,用于表型评估的GA,特别强调对焦虑的评估,认知能力,自闭症症状学,以及通过前驱症状和综合症患上精神病的风险。评价将使用标准化仪器进行。结构,扩散,静息态功能MRI数据将从符合条件的研究参与者中收集.我们还将从3q29删除载体和参与的家庭成员中收集血液,将存入NIMH存储库和基因组学资源(NRGR)。
3q29缺失的研究有可能改变我们对复杂疾病的理解。对缺失个体的研究可以提供对该疾病的长期护理和管理的见解。我们的项目描述了与3q29缺失综合征相关的行为和临床表型的前瞻性研究方案。这里描述的范例可以很容易地适应研究其他CNV或单基因疾病,这些疾病具有神经精神表型的高风险。和/或转移到其他研究地点,为数据协调和交叉障碍分析提供了一种手段。