Early motor, cognitive, language, behavioural and social emotional development in infants and young boys with Duchenne Muscular Dystrophy- A systematic review

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene. Deficiency of the dystrophin protein causes not only motor, but also cognitive, language, behavioural and social emotional problems. This is the first systematic review investigating five early developmental domains in boys with DMD between 0 and 6 years old. Interactions between different domains and links with mutation types and sites were explored. A systematic search was performed in PubMed, Web of Science and Scopus. An adapted version of the Scottish Intercollegiate Guidelines Network (SIGN) Checklists for case-control and cohort studies was used to evaluate quality. Fifty-five studies of high or acceptable quality were included. One was an RCT of level 1b; 50 were cohort studies of level 2b; and four were an aggregation of case-control and cohort studies receiving levels 2b and 3b. We found that young boys with DMD experienced problems in all five developmental domains, with significant interactions between these. Several studies also showed relationships between mutation sites and outcomes. We conclude that DMD is not only characterised by motor problems but by a more global developmental delay with a large variability between boys. Our results emphasise the need for harmonisation in evaluation and follow-up of young boys with DMD. More high-quality research is needed on the different early developmental domains in young DMD to facilitate early detection of difficulties and identification of associated early intervention strategies.

Keywords: Behavioral development; Cognitive development; Duchenne muscular dystrophy; Language development; Motor development; Social emotional development.