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Updated: Sep 10, 2025

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Phelan-McDermid症候群における適応能力の縦断的軌跡

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
まとめ

Phelan-McDermid症候群 (PMS) は,コミュニケーションと日常生活スキルの適応行動の遅い増加を示していますが,長期研究データによると,社会化ではありません. 成長スケール値 (GSV) は,PMS患者における標準スコアよりも,個々の進歩をよく捉えます.

キーワード:
22q13 削除フェラン・マクダーミッド症候群SHANK3 についてワインランド適応行動スケール自閉症スペクトル障害発達経路について成長スケールの値知的障害

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