Transdiagnostic Associations Across Developmental Disorders

摘要 2017年的全球疾病负担(GBD)数据显示，全球26亿人中的2.912亿人(11.2%) 据估计，儿童和青少年有四种发育障碍之一(儿童癫痫， 智力残疾、视力丧失和听力损失)，自2004年以来增加了一倍多。 这些儿童绝大多数(94.5%)居住在撒哈拉以南非洲(SSA)和南亚。 这些儿童，特别是在SSA，在相关文献中的代表性严重不足。拟议中的工作 旨在帮助提高来自SSA的儿童和青年在科学 文学。这项工作的首要目标是确定和描述儿童/青年(3-18岁)的特征 在赞比亚农村长大的发育障碍(DD)儿童。拟议的工作围绕三个方面展开 独特的SA。SA1涉及确定患有痴呆症及其配对的儿童/青年的大样本 兄弟姐妹(总计4,000人)。SA2针对这一样本儿童的特征进行识别和分类 该病的病因和可能的治疗。SA3打算记录当前的服务 供患有痴呆症的儿童/青少年访问，并确定社区对痴呆症的看法，就以下哪些方面提供建议 服务可用、可访问或需要。总体而言，SA1-3将产生独特的多层次(社会 上下文-行为-脑-基因组)数据集，展示了一系列DD的表现和因果路径 特别是在赞比亚农村地区和一般的南沙地区。

SUMMARY The Global Burden of Disease (GBD) data of 2017 revealed that worldwide 291.2 million (11.2%) of 2.6 billion children and adolescents were estimated to have one of four developmental disabilities (childhood epilepsy, intellectual disability, and vision loss and hearing loss), which is an increase of more than double since 2004. Sub-Saharan Africa (SSA), along with South Asia, hosts the overwhelming majority (94.5%) of these children. These children, especially in SSA, are severely underrepresented in the relevant literature. The proposed work is intended to contribute to improving the representation of children and youth from SSA in the scientific literature. The overarching objective of this work is to identify and characterize children/youth (aged 3-18) with developmental disabilities (DD) growing up in rural Zambia. The proposed work is structured around three unique SA. SA1 pertains to the ascertainment of a large sample of children/youth with DD and their matched siblings (total n = 4,000). SA2 addresses the characterization of this sample of children to identify and classify the etiology and potential treatment of their DD. SA3 intends to document the services that are currently accessed by children/youth with DD, and to ascertain community perceptions of DD, to advise on what services are available, accessed, or needed. Collectively, SA1-3 will generate a unique multi-level (social context—behavior—brain—genome) dataset presenting a range of manifestations and causal pathways to DD in rural Zambia in particular and in SSA in general.