Evidence map›Paper›PMID 40910950›Full record

ArticleDevelopmental medicine and child neurology2026

Expressive language and social communication abilities in children with spinal muscular atrophy type 1.

Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri and 3 more

Abstract read
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Article in Developmental medicine and child neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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0cells of the map it votes in
4citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Chiara BrusaUCL Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0003-3464-2848
Bianca BuchignaniDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.ORCID 0000-0003-0954-5384
Chiara CutriPediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
Giorgia CorattiPediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
Elaine ClarkNeurodisability Service, Great Ormond Street Hospital for Children, London, UK.
Emily JohnsonSpeech and Language Therapy Department, Great Ormond Street Hospital for Children, London, UK.
Nikki CornellUCL Great Ormond Street Institute of Child Health, London, UK.
Mariacristina ScotoUCL Great Ormond Street Institute of Child Health, London, UK.
Marika PanePediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.
Eugenio Maria MercuriPediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.ORCID 0000-0002-9851-5365
Francesco MuntoniDubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK.
Giovanni BaranelloDubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK.ORCID 0000-0003-4871-6692
Language and Social Communication in SMA working group

Funding

BiogenMinistero della Salute RC2024Ministero della Salute RF-2019-12370334MRC Translational Research Centre at UCL and NewcastleMuscular Dystrophy UKNIHR BRC at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London
6 · The paper itself

Abstract

aimTo investigate parent-reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease-modifying therapies.

methodThis was a cross-sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (Italy), testing the use of the MacArthur-Bates Communicative Development Inventories (MB-CDIs, 8 months+) to explore vocabulary production, and the Social Communication Questionnaire (SCQ, 4 years+) to investigate social communication.

resultsFifteen participants completed the MB-CDIs (age range 2 years 2 months-6 years 9 months). Thirteen out of the 15 acquired verbal skills, although with scores below normal ranges. Thirty-seven completed the SCQ (age range 4 years 0 months-9 years 0 months). Four out of the 37 scored 11 or more, suggesting the need for further assessment for autism spectrum disorder. Three out of four had completed the MB-CDIs and were among the children able to say the lowest number of words. Other areas of concern included routines/ritualized patterns of behaviour (14 out of 37) and hyperreactivity to sensory input (5 out of 37).

interpretationTreated children with SMA1 can acquire verbal skills, although this can be delayed. A percentage of them also present with social communication difficulties, especially when expressive language is more severely affected. Further assessments for language and social communication are, therefore, recommended and large prospective studies warranted to better characterize the spectrum of these abilities in treated children with or at risk of SMA1.

Indexed as

CommunicationSpinal Muscular Atrophies of ChildhoodChildChild, PreschoolCross-Sectional StudiesFeasibility StudiesFemaleHumansInfantMale

Identifiers

PMID40910950
PMCPMC13056017

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