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在Phelan-McDermid综合征中适应能力的纵向轨迹

Siddharth Srivastava1, Kristina Johnson1, Cristan Farmer1

  • 1Siddharth Srivastava and Kristina Johnson, Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School; Cristan Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Tess Levy, Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine and Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Audrey Thurm, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Rajna Filip-Dhima and Aisling Quinlan, Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School; Jonathan A. Bernstein, Department of Pediatrics, Stanford University School of Medicine; Elizabeth Berry-Kravis, Department of Pediatrics, Department of Neurological Sciences, and Department of 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, University of Alabama at Birmingham; Joseph D. Buxbaum, Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Department of Genetics and Genomic Sciences and Department of Neuroscience, Mount Sinai School of Medicine; Mustafa Sahin, Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School; Alexander Kolevzon, Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine and Department of Psychiatry, Icahn School of Medicine at Mount Sinai.

American journal on intellectual and developmental disabilities
|August 26, 2025
PubMed
概括

根据纵向研究数据,费兰-麦克德米德综合征 (PMS) 在沟通和日常生活技能方面表现出缓慢的适应性行为增长,但没有社会化. 增长尺度值 (GSV) 比PMS患者的标准分数更好地捕捉个人进展.

关键词:
22q13 删除菲兰-麦克德米德综合征没有.维尼兰适应性行为尺度自闭症谱系障碍发展轨迹增长尺度的值智力障碍

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