Key result
Children with SMA1 subtypes 1a and 1b had significantly lower speech function scores compared to subtype 1c (median ALSSS 2 vs 6.5, p<0.001), despite both groups demonstrating normal general intelligence.
Why the study?
To analyze cognitive functions, language comprehension, and speech in natural history SMA1 children by age and subtype to develop benchmarks for clinical medication trials.
Observational (n=22)
No
Children with SMA1 demonstrate normal general intelligence and language comprehension despite severe speech and motor function impairment.
Normal cognition despite severe speech limits in SMA1 supports AAC strategies now; leaves open effects of disease-modifying therapies on neurodevelopment.
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
No takes yet. Share an insight, caveat, or question.
Zappa et al. (2021) conducted an observational in Spinal muscular atrophy type 1 (n=22). Spinal muscular atrophy subtypes 1a and 1b vs. Spinal muscular atrophy subtype 1c was evaluated on Speech domain of the ALS Severity Score (ALSSS) (p=<0.001). Children with SMA1 subtypes 1a and 1b had significantly lower speech function scores compared to subtype 1c (median ALSSS 2 vs 6.5, p<0.001), despite both groups demonstrating normal general intelligence.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: