Children with Duchenne muscular dystrophy (DMD) may be more prone to develop early language abnormalities, according to a recently published study in Brain Sciences.

Although DMD is typically associated with progressive muscular weakness and atrophy, there is a growing interest in understanding the role of DMD dystrophin isoforms in the central nervous system and their influence on neurological development. 

Several studies performed on school-aged children with DMD revealed that approximately 33% of patients with DMD have borderline intelligence quotient (IQ) or intellectual disability.

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Evidence shows that low IQ results in these patients occur mainly at the expense of verbal abilities. Furthermore, studies suggest that children with DMD appear to have lower language expressive skills when compared to the general population.

“Despite the fact that language delay was recognized as one of the early signs of DMD, little attention is paid to earlier aspects of language development,” the authors wrote.

The authors aimed to assess language skills in a population of 20 children in preschool with DMD and no previous evidence of cognitive deficiencies and compare them to those of a group of children with specific language impairments. All children included in the study were between 4 and 6 years of age and had a genetically confirmed DMD diagnosis.

The cohort was evaluated using specific tests designed for the assessment of oral comprehension skills and language production skills in the Italian language. The authors also evaluated the speech sound articulation capacities of the included children. The cohort was evaluated between 2017 and 2020.

Statistical analysis was performed using the Mann–Whitney U test to compare differences between the group of children with specific language impairment and the group of children with DMD.

Results revealed that lexical and syntactical skills were normal in over 90% of the children with DMD. However, there were deficiencies in the articulation and repetition of long words and sentences. Interestingly the authors found that mutations were less frequent in children with mutations not involving isoforms Dp140 and Dp71.

“These findings suggest that language abilities should be assessed in young DMD boys irrespective of their global neurodevelopmental quotient, as their early identification may facilitate rehabilitation plans that should include addressing the possible concomitant involvement of attentional skills and, when present, behavioral difficulties,” the authors concluded.


Chieffo DP, Moriconi F, Mastrilli L, et al. Language development in preschool Duchenne muscular dystrophy boys. Brain Sci. Published online September 16, 2022. doi:10.3390/brainsci12091252