Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study
Bianca Buchignani1,2, Gianpaolo Cicala2,3, Francesca Cumbo4
1Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
Insights
Early language development in spinal muscular atrophy (SMA) type 1 is impacted, even with treatment. While some skills emerge, they often remain below typical levels, highlighting the need for continued support.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Speech-Language Pathology
Background:
- Spinal muscular atrophy (SMA) type 1 is a severe genetic disorder affecting motor neurons.
- Early diagnosis and intervention are crucial for managing SMA type 1.
- Understanding early language acquisition in treated SMA type 1 is vital for developmental outcomes.
Purpose of the Study:
- To evaluate early language development in infants with SMA type 1 receiving treatment.
- To compare language acquisition in treated SMA type 1 infants with those identified via newborn screening (NBS).
Main Methods:
- Utilized the MacArthur-Bates Communicative Development Inventory (MB-CDI) for parent-reported assessments.
- Assessed comprehension, gesture, and expressive language skills in 24 treated SMA type 1 and 12 NBS-identified infants (8-36 months).
- Conducted a follow-up assessment on a subset of participants.
Main Results:
- Comprehension skills were largely preserved in both groups (81% SMA type 1, 87% NBS).
- Gesture and lexical expression skills were significantly delayed in SMA type 1 infants (55% and >80% below 5th centile, respectively).
- Follow-up showed lexical improvements but persistent delays in 43% of SMA type 1 and 86% of NBS-identified infants.
Conclusions:
- Language development in treated SMA type 1 may parallel motor function, with some skills emerging but not reaching typical peer levels.
- Treated infants demonstrate some language abilities not seen in untreated peers.
- Further research and support are needed to optimize communication development in this population.
Objective:
The aim of this study was to assess early language acquisitions in treated individuals with spinal muscular atrophy (SMA) type 1 and in infants identified by newborn screening (NBS).
Methods:
Parents of SMA individuals aged between 8 and 36 months were asked to fill in the MacArthur-Bates Communicative Development Inventory (MB-CDI) that assesses comprehension, gesture and expressive skills. A follow-up assessment was performed in 21 of the 36.
Results:
The MB-CDI was completed by parents of 24 type 1 and 12 infants identified by NBS. Comprehension skills were preserved in 81% of the type 1 SMA and in 87% infants identified by NBS. Gesture abilities were <5th centile in 55% of the type 1 SMA and in none of those identified by NBS. Lexical expressions were <5th centile in more than 80% type 1 SMA and in 50% of infants identified by NBS. At follow-up, despite an increase in lexical expression skills, the scores remained below the fifth centile in 43% type 1 SMA and in 86% of infants identified by NBS.
Conclusions:
These results suggest that language and communication development may follow a similar pattern to that observed in motor function with the possibility to develop skills (eg, ability to say clear words) that are not usually present in untreated infants but with a level of performance that does not reach that of their typically developing peers.
Related Concept Videos
01:21Satellite Stem Cells and Muscular Dystrophy
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.
01:15Myasthenia Gravis: Diagnostic Tests
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...