为儿童和青少年精神病学实践导航神经遗传学。

IF 9.2 1区医学 Q1 PEDIATRICS

Journal of the American Academy of Child and Adolescent Psychiatry Pub Date : 2024-07-01 DOI:10.1016/j.jaac.2023.09.555

Aaron J. Hauptman MD, Jay A. Salpekar MD, Julie S. Cohen ScM, CGC, Miya R. Asato MD

引用次数: 0

摘要

神经发育障碍（NDDs）是一组以大脑发育过程中影响认知、交流、运动能力和/或行为的损伤为特征的疾病。这些疾病通常会对人的一生产生重大影响，并影响个人、社交、学习或职业功能。美国疾病控制中心（US Centers for Disease Control）报告称，每 6 名儿童中就有 1 名发育障碍儿童，这使得儿童和青少年精神科医生在日常工作中极易遇到患有 NDD 的儿童1 。根据荟萃分析，对 NDDs 作为一个群体进行全面基因检测的诊断率约为 40%，其中对全面发育迟缓 (GDD) 或智力障碍 (ID) 患者的诊断率为 30% 至 50%，对自闭症谱系障碍患者的诊断率为 15% 至 20%。1-3 检测结果的异质性极高，包括染色体拷贝数变异 (CNV) 和 2000 多种已知的与 NDDs 相关的单基因疾病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Navigating Neurogenetics for Child and Adolescent Psychiatry Practice

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of the American Academy of Child and Adolescent Psychiatry 医学-精神病学

CiteScore

21.00

自引率

1.50%

发文量

1383

审稿时长

53 days

期刊介绍： The Journal of the American Academy of Child & Adolescent Psychiatry (JAACAP) is dedicated to advancing the field of child and adolescent psychiatry through the publication of original research and papers of theoretical, scientific, and clinical significance. Our primary focus is on the mental health of children, adolescents, and families. We welcome unpublished manuscripts that explore various perspectives, ranging from genetic, epidemiological, neurobiological, and psychopathological research, to cognitive, behavioral, psychodynamic, and other psychotherapeutic investigations. We also encourage submissions that delve into parent-child, interpersonal, and family research, as well as clinical and empirical studies conducted in inpatient, outpatient, consultation-liaison, and school-based settings. In addition to publishing research, we aim to promote the well-being of children and families by featuring scholarly papers on topics such as health policy, legislation, advocacy, culture, society, and service provision in relation to mental health. At JAACAP, we strive to foster collaboration and dialogue among researchers, clinicians, and policy-makers in order to enhance our understanding and approach to child and adolescent mental health.