For a study, the researchers aimed to analyze for the first time cognitive functions, language comprehension, and speech in natural history spinal muscular atrophy type 1 (SMA1) children according to age and subtypes, to develop cognitive and language benchmarks that provided results for the clinical medication trials that are changing SMA1 course/trajectory. SMA 1AB and 1C children were similar in age, with the former characterized by lower Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scores compared to the latter. All 22 children had collaborated to Raven Coloured and Standard Progressive Matrices (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 ALS Severity Score (ALSSS) was 5; however, it was 2 in AB children, being significantly lower than C (6.5, P<0.001). Test di Comprensione Grammaticale per Bambini (TCGB) was 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 were observed with general intelligence and language comprehension in the normal range. Speech impairment was strictly associated with global motor impairment.
Link:jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-021-09355-4
