在Phelan-McDermid综合征中获得和丧失技能的回顾性报告
Cristan Farmer1, Ivy Giserman-Kiss1, Ellora Mohanty1
1Cristan Farmer, Ivy Giserman-Kiss, and Ellora Mohanty, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Latha Valluripalli Soorya, Department of Psychiatry, Rush University Medical Center; Mustafa Sahin, Department of Neurology, Boston Children's Hospital, Harvard Medical School and Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School; Alexander Kolevzon, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai and Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Joseph D. Buxbaum, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai; Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai; nd Department of Neuroscience, Icahn School of Medicine at Mount Sinai; Elizabeth Berry-Kravis, Departments of Pediatrics, Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center; Craig M. Powell, Department of Neurobiology, University of Alabama at Birmingham Heersink School of Medicine and Civitan International Research Center for Neurodevelopmental Disorders, University of Alabama at Birmingham Heersink School of Medicine; Jonathan A. Bernstein, Department of Pediatrics, Stanford University School of Medicine; Audrey Thurm, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health.
菲兰-麦克德米德综合征 (PMS) 是一种罕见的遗传性疾病. 这项研究发现, 患有PMS的个体经常经历显著的延迟和发育能力的丧失, 即使在10岁之后.
科学领域:
- 遗传学
- 神经发育障碍
- 儿童神经病学
背景情况:
- 菲兰-麦克德米德综合征 (PMS) 是一种遗传性疾病,具有严重的神经发育障碍.
- 了解PMS技能获取和丧失的轨迹对于临床管理和支持至关重要.
- 以前的研究强调了PMS患者所面临的挑战,
研究的目的:
- 描述菲兰-麦克德米德综合征患者发育里程碑和相关技能的发病和丧失模式.
- 综合来自两个不同的群体的数据,以提供PMS发展轨迹的全面概述.
- 在PMS的各种发展领域中识别技能延迟和回归的普遍性.
主要方法:
- 使用了来自菲兰-麦克德米德综合征国际注册表的调查问卷数据 (N = 374).
- 由临床医生领导的自然史研究 (N = 207) 的综合评估数据.
- 分析数据以确定里程碑成就,延迟和技能回归的模式.
主要成果:
- 绝大多数患有PMS的个体在获得基本发育技能方面表现出延迟.
- 通常在多个发育领域报告技能回归或损失.
- 甚至在10岁以上的个体中也观察到技能损失, 这突显了持续的挑战.
结论:
- 菲兰-麦克德米德综合征与显著的延迟和频繁的发育能力丧失有关.
- 这些发现强调了在整个生命周期中对PMS患者进行持续支持和干预的必要性.
- 需要进一步研究以阐明促使PMS发生这些发育模式的潜在机制.
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