成人CHD2表型-相关疾病
Marlene Rong1, Quratulain Zulfiqar Ali1, Angel Aledo-Serrano1
1From the Institute of Medical Science (M.R.), University of Toronto; Adult Genetic Epilepsy (AGE) Program (M.R., Q.Z.A., F.Q., I.C., A.A., D.M.A.), Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Canada; Epilepsy Unit (A.A.-S.), Vithas Clinical Neuroscience Institute, Vithas Madrid University Hospitals; Faculty of Experimental Sciences (A.A.-S.), Francisco de Vitoria University, Madrid, Spain; Department of Drug Design and Pharmacology (A.B.), University of Copenhagen; Department for Genetics and Personalized Medicine (A.B.), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (A.B.), University of Southern Denmark, Odense; NYU Langone Epilepsy Center (O.D., F.Q., A.A.); Edmond J. Safra Program in Parkinson's Disease (A.F.), Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN; Division of Neurology (A.F., D.M.A.), Department of Medicine, University of Toronto; Krembil Brain Institute (A.F., D.M.A.); Clinical Genetics Research Program (A.S.B.), Centre for Addiction and Mental Health; The Dalglish Family 22q Clinic (A.S.B.), Toronto General Hospital, University Health Network; Department of Psychiatry (A.S.B.), University of Toronto, Ontario; Toronto Congenital Cardiac Centre for Adults (A.S.B.), Division of Cardiology, Department of Medicine, and Department of Psychiatry, University Health Network and Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute (A.S.B.), Toronto, Ontario, Canada.
患有CHD2变异的成年人经常经历持续的和严重的并发症,包括行为问题和移动性挑战. 发作的严重程度与非发作的不良结果相关,影响日常生活和生活质量.
科学领域:
- 神经遗传学 神经遗传学
- 临床神经学 临床神经学
- 发育神经科学的发展神经科学.
背景情况:
- 致病性CHD2变体与神经发育障碍和性脑病变有关.
- 虽然儿科表型得到了充分的记录,但CHD2变异的成人表现仍然不太了解.
- 这项研究的重点是描述CHD2变异的成年表型谱.
研究的目的:
- 对于携带可能致病性或致病性 (LP/P) CHD2变体的成年患者 (≥18岁) 的表型谱进行调查.
- 评估发作,药物使用,睡眠,胃肠道症状,疼痛反应,步态,社交沟通和适应性行为.
- 为了解成人中CHD2相关疾病的自然史和长期结果提供见解.
主要方法:
- 对14名无亲属成年患者 (18-45岁) 进行前性研究,这些患者患有LP/P CHD2变体.
- 利用标准化工具来评估各种临床和功能领域.
- 包括基因分析来识别CHD2变异,发现了11种新型变异.
主要成果:
- 79%的成年患者报告持续的发作,其中64%的患者表现出光敏感性.
- 自闭症谱系障碍 (71%) 和行为问题 (100%) 的高患病率,包括内化特征 (71%) 和自我伤害行为 (50%).
- 显著的功能障碍:43%的人独立行走,只有29%的人在六年级读懂阅读,没有人能够独立执行所有日常生活活动. 较高的发作严重程度与较差的非发作结果相关 (p=0.04).
结论:
- 患有CHD2变异的成年人经常经历持续的发作和高负担的并发症.
- 发作严重程度是与较差的非发作结果相关的重要因素,影响行为,移动性和生理功能.
- 这些发现凸显了全面管理战略的必要性,并为家庭和未来治疗发展的预后预期提供了信息.
更多相关视频
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
相关概念视频
Sex-linked Disorders
Pedigree Analysis
Genetic Lingo
X-linked Traits
Pleiotropy
Incomplete Dominance
