成年人表型的SYNGAP1-DEEE的表型
Marlene Rong1, Tim Benke1, Quratulain Zulfiqar Ali1
1From the Institute of Medical Science (M.R.), University of Toronto; Adult Genetic Epilepsy (AGE) Program (M.R., Q.Z.A., F.Q., A.S.A., D.M.A.), Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Ontario, Canada; Department of Pediatrics, Neurology, Pharmacology and Otolaryngology (T.B.), University of Colorado School of Medicine and Children's Hospital Colorado, Aurora; Epilepsy and Neurogenetics Program (A.A.-S.), Neurology Department, Ruber Internacional Hospital, and Initiative for Neuroscience (INCE) Foundation, Madrid, Spain; Department of Drug Design and Pharmacology (A. Bayat), University of Copenhagen; Department for Genetics and Personalized Medicine (A. Bayat), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (A. Bayat), University of Southern Denmark, Odense; Department of Epilepsy Genetics and Personalized Medicine (A.R.), Danish Epilepsy Centre, Dianalund, Denmark; Pediatric Clinic (A.R.), IRCCS San Matteo Hospital Foundation, University of Pavia, Italy; NYU Langone Epilepsy Center (O.D.), NY; Edmond J. Safra Program in Parkinson's Disease (A.F.), Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital; Division of Neurology (A.F.), University of Toronto; Krembil Brain Institute (A.F.); 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; Toronto Congenital Cardiac Centre for Adults (A.S.B.), Division of Cardiology, Department of Medicine, and Department of Psychiatry, University Health Network; Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute (A.S.B.); Division of Neurology (D.M.A.), Department of Medicine, University of Toronto, Ontario, Canada.
患有SYNGAP1变异的成年人经历了持续的耐药性和严重的非性并发症,如侵略性和运动障碍. 早期遗传诊断对于管理这些复杂的发育性和性脑病变 (DEE) 至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 发展生物学 发展生物学
背景情况:
- SYNGAP1变异与罕见的发育性和性脑病变 (DEE) 有关.
- 虽然儿童的表型是已知的,但与SYNGAP1相关的成人表型的了解很少.
- 这项研究调查了SYNGAP1变体和的成年人的特征和结果.
研究的目的:
- 确定诊断为SYNGAP1变体和的成年人的表型和结果.
- 为了确定SYNGAP1-DEE.的成年患者面临的常见并发症和挑战.
- 评估SYNGAP1变异对成年人日常生活,移动性和护理人员负担的影响.
主要方法:
- 招募了可能具有致病性/致病性SYNGAP1变体和DEE的成年患者 (≥18岁).
- 使用标准化问卷来评估发作,药物,睡眠,胃肠道症状,疼痛,步态,社交沟通和适应能力.
- 评估护理人员负担和患者的功能结果.
主要成果:
- 14名成年人 (平均年龄21岁) 发现SYNGAP1-DEE;71%的人患有耐药性发作.
- 100%的人经历了异常的疼痛处理; 86%的人有睡眠障碍,社交沟通障碍和行为问题 (侵略/自伤).
- 只有50%的人能够在最低限度的帮助下行走;大多数人需要大量的日常生活支持.
结论:
- 患有SYNGAP1-DEE的成年人经常患有持续的耐药性和显著的非并发症.
- 侵略性,自我伤害行为和行动障碍是需要全面管理的重大挑战.
- 在DEE的成年人中及时进行基因诊断对于个性化护理和指导精确治疗结果至关重要.
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