儿童神经发育和精神障碍I型和前症状脊柱肌肉缩的儿童神经发育和精神障碍
Bianca Buchignani1,2,3, Giorgia Coratti1,4, Chiara Cutrì4
1Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Scientific reports
|July 24, 2025
概括
脊柱肌肉缩 (SMA) 的疾病修饰疗法带来了新的挑战. 这项研究在小比例的SMA婴儿中发现了自闭症谱系障碍 (ASD),强调了需要精细的神经行为评估的需要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 发育儿科 发育儿科
背景情况:
- 疾病修饰疗法改善了脊髓肌肉缩 (SMA) 患者的预期寿命.
- 增加SMA的存活率需要了解长期的神经发育结果.
- 针对SMA的新生儿查 (NBS) 可以更早地识别婴儿,从而实现主动管理.
研究的目的:
- 调查SMA I型儿童和通过NBS识别的儿童的神经行为特征.
- 评估这一群体中自闭症谱系障碍 (ASD) 和其他行为挑战的患病率.
- 评价目前用于神经发育障碍的查工具的有效性,在婴儿的行动能力有限.
主要方法:
- 行为评估包括优势和困难问卷 (SDQ),社会沟通问卷 (SCQ) 和感官概况2 (SP2).
- 进行了神经行为观察,以及用于ASD诊断的CARS2和DSM-5标准.
- 该研究包括31名2-10岁的儿童,其中25名被诊断为SMA型I,6名通过NBS确定.
主要成果:
- 31名儿童中有14名在SDQ亲社会等级上得分边缘或异常.
- 在14名儿童中,有6名儿童在SCQ上有边缘分数,没有异常分数.
- 神经行为观察表明3/31潜在的ASD,通过CARS2和DSM-5标准证实;5/31表现出其他行为障碍.
结论:
- 自闭症谱系障碍 (ASD) 在SMA婴儿中出现的几率略高于一般人群.
- 其他神经行为障碍在研究的SMA队列中不那么普遍.
- 对于行动能力有限的婴儿选择适当的诊断工具存在挑战,强调需要精细的诊断途径来最大限度地减少假阳性.
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