Related Experiment Video
Updated: Sep 9, 2025
Author Spotlight: Deciphering the Cognitive and Neural Mechanisms of Gesture in Communication
Published on: January 26, 2024
Expressive language and social communication abilities in children with spinal muscular atrophy type 1
Chiara Brusa1,2, Bianca Buchignani3,4, Chiara Cutri5
1UCL Great Ormond Street Institute of Child Health, London, UK.
Insights
Children with spinal muscular atrophy type 1 (SMA1) treated with therapies can develop verbal skills, though often delayed. Some also show social communication challenges, particularly when language abilities are limited.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Genetics and Rare Diseases
Background:
- Spinal muscular atrophy type 1 (SMA1) is a severe neuromuscular disorder impacting motor neuron survival.
- Disease-modifying therapies have improved outcomes for children with SMA1, necessitating evaluation of non-motor development.
- Expressive language and social communication are crucial developmental milestones affected in neurodevelopmental disorders.
Purpose of the Study:
- To assess parent-reported expressive language and social communication in children with SMA1 receiving disease-modifying treatments.
- To evaluate the feasibility of using standardized tools like MB-CDIs and SCQ in this population.
- To identify potential challenges in language and social interaction development in treated SMA1 patients.
Main Methods:
- Cross-sectional feasibility study conducted at specialized neuromuscular centers in London and Rome.
- Utilized MacArthur-Bates Communicative Development Inventories (MB-CDIs) for vocabulary production assessment (8 months+).
- Employed the Social Communication Questionnaire (SCQ) for social communication evaluation (4 years+).
Main Results:
- Thirteen of fifteen participants (2y2m-6y9m) using MB-CDIs acquired verbal skills, albeit below normal ranges.
- Four of thirty-seven participants (4y0m-9y0m) using SCQ scored high enough for potential autism spectrum disorder assessment.
- Areas of concern included routines/ritualized behaviors (14/37) and sensory hyperreactivity (5/37); those with lower verbal scores showed more social communication issues.
Conclusions:
- Children with SMA1 treated with disease-modifying therapies can achieve verbal skills, though development may be delayed.
- A subset of treated SMA1 children exhibit social communication difficulties, correlating with expressive language severity.
- Further comprehensive language and social communication assessments are recommended; larger prospective studies are needed to fully characterize these abilities in treated SMA1 populations.
Aim:
To investigate parent-reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease-modifying therapies.
Method:
This 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.
Results:
Fifteen 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).
Interpretation:
Treated 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.
More Related Videos
Related Concept Videos
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:22Language Development
The critical period for language acquisition suggests that the ability to acquire language is at its peak early in life. As people age, this proficiency decreases. Language development begins very...
01:30Therapeutic Communication
Verbal communication depends on language or a prescribed way of using words so that people can share information effectively. The critical aspects of verbal...
01:10Higher Mental Functions of the Brain: Language
Language formation and comprehension take place in the dominant hemisphere. The dominant hemisphere is responsible for understanding the meaning of spoken, written, or sign language, as well as the ability to communicate. For most people, the left hemisphere is the dominant one. The right hemisphere, then, gives tone and emotional context to the...
01:27Language and Cognition
01:21Satellite Stem Cells and Muscular Dystrophy