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This retrospective study, published in the Journal of Neurodevelopmental Disorders, analyzed cognitive function, language comprehension, speech, and motor function in pediatric patients with spinal muscular atrophy type 1 (SMA1). The goal of the study was to develop cognitive and language benchmarks that could be used in clinical medication trials for different SMA1 subtypes. 

The researchers identified 22 children with SMA1 between the ages of 3 and 11, with a median age of 5, that used a coded way to communicate “yes” and “no.” To evaluate cognitive development, language comprehension, speech disturbances, and motor functioning, data from specific assessments were gathered from patient charts.

Ultimately, it was found that children with SMA type 1a-1b (AB) had lower CHOP-INTEND motor functioning scores compared to those with SMA type 1c (C). The results indicated no difference in RCPM IQ scores between the AB and C groups. TCGB morphosyntactic comprehension scores were in the normal range.

Moreover, there was a significant difference in the groups’ ALSSS scores evaluating speech disturbances, with AB children scoring a median of 2 and C children 6.5. A strong correlation between ALSSS speech disturbance scores and CHOP-INTEND motor functioning scores was also identified.

The researchers concluded that children with SMA1 overall exhibit general intelligence and language comprehension within the normal range. However, their speech and motor function are severely compromised, and there is a clear association between speech impairment and global motor impairment [1]. 


[1] Zappa, G., LoMauro, A., Baranello, G., Cavallo, E., Corti, P., Mastella, C., & Costantino, M. A. (2021). Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1. Journal of Neurodevelopmental Disorders, 13(1). https://doi.org/10.1186/s11689-021-09355-4

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