One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development (original) (raw)

Background: Over the last few years there has been increasing attention to detect early signs of impairment in young Duchenne muscular dystrophy boys but less has been reported on whether the delay may also affect the very early aspects of motor development, such as gross motor milestones. Objective: The aim of this study was to retrospectively assess the age when early motor milestones were achieved in Duchenne muscular dystrophy. Methods: The study is a retrospective analysis of data collected as part of a larger natural history project. Information on past medical history, collected at the time the boys were seen for the first time, were recorded and re available on clinical notes and on electronic CRF. Results: Data were collected in 134 DMD boys. Sitting was achieved at 7.04 months. The % of DMD boys not achieving sitting by 9.4 months was 10%, ranging from 2% in the boys with mutations before exon 44 to 33% in those beyond exon 63. Walking was achieved at a mean age of 16.35 m...

We compared the timed performance and compensatory movements of 32 boys (mean age = 10.0 years) with Duchenne muscular dystrophy (DMD) and 38 healthy boys (mean age = 9.2 years) on 10 -m walking and four-step stair work (climbing and descending). Dependent measures were digital scores on the Functional Evaluation Scale for DMD obtained by watching the boys on film. Groups were compared initially, after 6 and 12 months, using General Linear Models analysis (for two groups and three assessments). Results showed no significant timed performance differences between groups on 10 -m walking at the initial assessment, but boys with DMD showed longer times after 6 and 12 months and boys with DMD engaged in more compensatory movements while walking. For stair climbing, boys with DMD were significantly slower than healthy controls when both climbing and descending steps in all assessments.

To develop a patient-reported outcome measure that comprehensively captures the health-related priorities of children with Duchenne muscular dystrophy (DMD). Children with DMD and their parents completed the iteratively revised versions of the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD), followed by a cognitive interview to develop a pilot version of a new measure. Multidisciplinary health care professionals completed an item-by-item analysis of the measure and a 14-item sensibility questionnaire. Minimum content validity ratio for each item of the new measure and the mean score (0-7) for the items of the sensibility questionnaire were calculated. The CPCHILD underwent changes over 19 interviews with children and their parents, resulting in the pilot Muscular Dystrophy Child Health Index of Life with Disabilities (MDCHILD). The content validity ratio of each MDCHILD item ranged from 0.85 to 1 based on health care professionals' ratings. The me...