Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3–11 years in clinical stable condition with a coded way to communicate “yes” and “no”. Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment.

中文翻译：

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1型脊髓性肌萎缩症儿童的智力、语言理解、言语和运动功能

脊髓性肌萎缩症 (SMA) 是一种慢性神经肌肉疾病，其特征是脊髓运动神经元退化，导致进行性肌肉萎缩和无力。SMA1 是最严重的形式，其特征是显着的延髓、呼吸和运动功能障碍。SMA1 阻止儿童说一种清晰易懂且流利的语言，他们的交流主要以眼球运动、喉音和语音障碍（1a 型）为特征；严重构音障碍（1b 型）；和鼻音和运动障碍（1c 型）。本研究的目的是首次根据年龄和亚型分析自然病程 SMA1 儿童的认知功能、语言理解和言语，开发认知和语言基准，为正在改变 SMA1 过程/轨迹的临床药物试验提供结果。这是一项回顾性研究，包括 22 名 SMA1 儿童（10 名受 1a-1b 亚型影响：AB 和 12 名受 1c：C 影响），年龄 3-11 岁，临床状况稳定，使用编码方式交流“是”和“否”。已从患者图表中检索来自以下评估的数据：​​ 一维 Raven 测试 (RCPM)，用于评估认知发展 (IQ)；ALS 严重度评分 (ALSSS) 用于评估言语障碍；Brown Bellugy 针对意大利语标准 (TCGB) 进行修改以评估语言理解；和费城儿童医院神经肌肉疾病婴儿测试 (CHOP-INTEND) 以评估运动功能。SMA 1AB 和 1C 儿童的年龄相似，与后者相比，前者的 CHOP-INTEND 分数较低。所有 22 名儿童都参加了 RCPM，他们的 IQ 中位数为 120，AB 和 C 之间没有差异（p = 0.945）。ALSSS 语音域的全球中位数为 5；然而，在 AB 儿童中为 2，显着低于 C（6.5，p < 0.001）。13名儿童完成了TCGB测试，形态句法理解在正常范围内（50）。尽管 ALSSS 与 IQ 和 TCGB 均不相关，但它与 CHOP-INTEND 具有很强的 (p < 0.001) 相关性，表现为指数上升至最大值。尽管言语和运动功能严重受损，但患有 SMA1 的儿童表现出正常范围内的一般智力和语言理解。言语障碍与整体运动障碍密切相关。