脊柱肌缩1型儿童的表达语言和社会沟通能力
Chiara Brusa1,2, Bianca Buchignani3,4, Chiara Cutri5
1UCL Great Ormond Street Institute of Child Health, London, UK.
Developmental medicine and child neurology
|September 5, 2025
概括
治疗1型脊髓肌缩症 (SMA1) 的儿童可以发展语言技能,但往往会延迟. 有些人也表现出社交沟通的困难,特别是当语言能力有限时.
科学领域:
- 儿童神经学
- 儿童发育医学
- 遗传学与罕见疾病
背景情况:
- 脊髓肌缩1型 (SMA1) 是一种严重的神经肌肉疾病,影响运动神经元的存活.
- 疾病修饰疗法改善了SMA1儿童的治疗结果,因此需要评估非运动发育.
- 表达性语言和社交沟通是神经发育障碍中影响的关键发展里程碑.
研究的目的:
- 在接受疾病修饰治疗的SMA1儿童中评估父母报告的表达语言和社会沟通.
- 在这一群体中评估使用MB-CDI和SCQ等标准化工具的可行性.
- 在接受治疗的SMA1患者中识别语言和社交互动发展的潜在挑战.
主要方法:
- 在伦敦和罗马的专门神经肌肉中心进行的横截面可行性研究.
- 使用麦克阿瑟-贝茨沟通开发库存 (MB-CDI) 进行词汇生产评估 (8个月以上).
- 使用社会沟通问卷 (SCQ) 进行社会沟通评估 (4年+).
主要成果:
- 在使用MB-CDI的15名参与者中,有13人获得了口语技能,尽管低于正常范围.
- 在使用SCQ的37名参与者中,有4人得分足以评估潜在的自闭症谱系障碍.
- 关注的领域包括日常/习俗行为 (14/37) 和感官过度反应 (5/37);口头得分较低的人表现出更多的社交沟通问题.
结论:
- 用疾病修饰疗法治疗的SMA1儿童可以获得语言技能,尽管发育可能会延迟.
- 一部分接受治疗的SMA1儿童表现出社交沟通困难,与表达性语言严重性相关.
- 建议进行进一步的语言和社会沟通评估;需要进行更大规模的前性研究,以充分描述SMA1治疗群体中的这些能力.
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