Developmental Trajectories in ARID1B-Related Disorder – a Multi-Method Multi-Site Prospective Natural History Study

ARID1B 相关疾病的发育轨迹 – 多方法、多地点前瞻性自然历史研究

• 批准号: 542554376
• 负责人: Professor Dr. Peter Krawitz
• 金额: --
• 依托单位: Université de Montréal
• 依托单位国家: 德国
• 项目类别: Research Grants
• 资助国家: 德国
• 项目状态: 未结题
• 来源: https://gepris.dfg.de/gepris/projekt/542554376?language=en
• 关键词: Developmental; Trajectories; ARID1B; Related; Disorder

ARID1B is the most frequently mutated single gene among neurodevelopmental disorders (NDDs) that are not inherited, with an approximated prevalence of one in 9,500 individuals. ARID1B-related disorder (ARID1B-RD) manifests in early childhood as moderate to severe developmental delay, and children and adults with the disorder have intellectual disability (ID) and are often diagnosed with autism spectrum disorder along with many other clinical signs. Despite ARID1B-RD’s high prevalence and extensive debilitating effects, the current understanding of how the disorder develops over time is strikingly limited. The proposed project will address this gap by employing a prospective longitudinal multi-method design. Specifically, in six sites, we will monitor the development of 100 children and adolescents aged 2-18 with ARID1B-RD for three years. Monitoring will involve (a) administration of standardized NDD assessments complemented by ARID1B-RD-specific tools; (b) evaluation of biological aspects of ARID1B-RD (for example, electric brain activity); and (c) collection of daily life data via caregivers’ reports, and audio and movement data using smartwatches and microphones. The project team brings a diverse set of complementary skills and collaborates with a leading patient advocacy organization. The project will generate a comprehensive picture of the progression of ARID1B-RD . The data will allow identifying and validating measurable targets for interventions, thus facilitating the development of effective treatments for thousands of children worldwide.

ARID1B是未遗传的神经发育（NDDS）中差异的单基因，在9,500个患者中，与ARID1B相关的疾病（ARID1B-RD）的患病率是早期的儿童兜风尽管ARID1B-RD的高流行和广泛的衰弱效果，但与自闭症谱系的区域相关。和2-18岁的青少年使用ARID1B-RD进行了三年的监测。护理人员的“报告”，以及使用智能手表和麦克风的动作数据。 E.