Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?

There has recently been some concern on possible cognitive impairment in patients with Spinal Muscular Atrophy (SMA). The aim of this study was to assess cognitive profiles in type II and III SMA with a focus on individual indexes and possible correlations with motor function. 57 type II and III individuals, aged 3.5-17 years, were consecutively enrolled in a prospective, multicentric study. Cognitive function was assessed using age-appropriate Weschler Scales. Motor function was concomitantly assessed using disease-specific functional scales. Only 2 individuals (3%) had a intellectual disability of mild degree while the others were within normal range, with no significant difference in relation to SMA type, gender or functional status. While the overall quotients were mostly within normal range, some indexes showed wider variability. A significant positive medium correlation was found between Processing Speed Index and motor functional scores. Working memory had lower scores in type III patients compared to type II. Intellectual disability is uncommon in type II and III SMA. Motor functional abilities may play a role in some of the items contributing to the overall cognitive profile.
Competing Interests: Declaration of Competing Interest Coratti G reports personal fees from GENESIS PHARMA, Biologix, BIOGEN S.R.L., ROCHE, AVEXIS and NOVARTIS outside the submitted work; Pera MC, Pane M, report personal fees from BIOGEN S.R.L., ROCHE, AVEXIS and NOVARTIS outside the submitted work; Sansone V reports personal fees from BIOGEN S.R.L., ROCHE, AVEXIS, Dyne, Avidity, LUPIN and NOVARTIS outside the submitted work (i.e. participation of advisory board and provides intellectual and teaching activities); R Battini reports personal fees from PTC Therapeutics AADC aware outside the submitted work. Mercuri E is part of advisory board for BIOGEN S.R.L., ROCHE, AVEXIS and NOVARTIS, Scholar ROCK, EPIRIUM, CYTOKINETICS and NMD PHARMA. All remaining authors have nothing to disclose. Funders had no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; and in the decision to submit the paper for publication.
(Copyright © 2023. Published by Elsevier B.V.)