Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort.

Background: Congenital myotonic dystrophy (CDM) is a neuromuscular disorder caused by a CTG triplet repeat expansion in the DMPK gene. In addition to the expected motor delay, affected children often have significant developmental disability in language and cognitive realms, which ultimately impacts on quality of life.

Objective: In a prospective cohort of children with CDM to 1) present the profile of language and motor developmental milestones, and 2) describe their early childhood health related quality of life (HRQOL).

Methods: A five year cohort study of eligible incident cases of CDM was performed via the Canadian Pediatric Surveillance Program (CPSP). Consenting subjects were then followed from infancy in a prospective cohort study. Caregivers were contacted every 3 months for the first year of life, and then twice yearly in order to obtain data concerning language skills, motor development and parent proxy HRQOL from the PedsQL and Infant and Toddler Quality of life (ITQOL) questionnaires.

Results: Milestones were achieved at later ages in patients when compared to healthy children. Girls appeared to be more delayed than boys in both language and motor skills. HRQOL scores remained stable in this cohort, for both the PedsQL and ITQOL.

Conclusions: Understanding developmental milestones and quality of life are important parameters when judging a child's overall health. For CDM patients delineating developmental milestones and QOL have important clinical care and research implications.