Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Roma, Italy.
Arch Dis Child. 2024 Apr 18;109(5):395-401. doi: 10.1136/archdischild-2023-326613.
The aim of this study was to assess early language acquisitions in treated individuals with spinal muscular atrophy (SMA) type 1 and in infants identified by newborn screening (NBS).
Parents of SMA individuals aged between 8 and 36 months were asked to fill in the MacArthur-Bates Communicative Development Inventory (MB-CDI) that assesses comprehension, gesture and expressive skills. A follow-up assessment was performed in 21 of the 36.
The MB-CDI was completed by parents of 24 type 1 and 12 infants identified by NBS. Comprehension skills were preserved in 81% of the type 1 SMA and in 87% infants identified by NBS. Gesture abilities were <5th centile in 55% of the type 1 SMA and in none of those identified by NBS. Lexical expressions were <5th centile in more than 80% type 1 SMA and in 50% of infants identified by NBS. At follow-up, despite an increase in lexical expression skills, the scores remained below the fifth centile in 43% type 1 SMA and in 86% of infants identified by NBS.
These results suggest that language and communication development may follow a similar pattern to that observed in motor function with the possibility to develop skills (eg, ability to say clear words) that are not usually present in untreated infants but with a level of performance that does not reach that of their typically developing peers.
本研究旨在评估 1 型脊髓性肌萎缩症（SMA）患者和通过新生儿筛查（NBS）发现的婴儿的早期语言习得情况。
8 至 36 月龄 SMA 患者的父母被要求填写麦克阿瑟 - 贝茨交际发展量表（MB-CDI），以评估理解、手势和表达技能。对其中的 21 名进行了随访评估。
MB-CDI 由 24 名 1 型 SMA 和 12 名通过 NBS 发现的婴儿的父母填写。1 型 SMA 中 81%的患儿和通过 NBS 发现的婴儿中 87%的患儿保留了理解技能。55%的 1 型 SMA 患儿的手势能力低于第 5 百分位数，而通过 NBS 发现的婴儿中没有。超过 80%的 1 型 SMA 患儿和 50%的通过 NBS 发现的婴儿的词汇表达能力低于第 5 百分位数。在随访时，尽管词汇表达技能有所增加，但在 43%的 1 型 SMA 和 86%的通过 NBS 发现的婴儿中，评分仍低于第 5 百分位数。
这些结果表明，语言和交流发展可能遵循与运动功能相似的模式，有可能发展出通常在未经治疗的婴儿中不存在但表现水平达不到其正常发育同龄人水平的技能（例如，说清楚单词的能力）。
