The Hidden Disease: Delayed Diagnosis in Duchenne Muscular Dystrophy and Co-Occurring Conditions

In this study, we highlight cases of delayed DMD diagnosis that resulted from misattribution of early motor symptoms to co-occurring neurocognitive conditions. We also investigate the difference in age at DMD diagnosis in the setting of specific co-occurring neurocognitive conditions. Method: In this study, we reviewed 40 consecutive patients seen at a Certified Duchenne Care Center, excluding siblings of already-diagnosed patients. We highlight cases of significant delay in DMD diagnosis in the setting of co-occurring neurocognitive diagnoses. We also investigate the association of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), intellectual disability, and speech/language delay on age of DMD diagnosis. Results: The prevalence of co-occurring neurocognitive diagnoses was 73.1% in patients diagnosed at or after age 5 years vs. 35.7% in those diagnosed before age 5 years. The average age of DMD diagnosis was 6.6 years in patients with any co-occurring neurocognitive diagnoses and 4.9 years in patients without (p = 0.09). Individual analysis of ASD and ADHD showed significant differences. A greater number of co-occurring conditions were associated with an increased age at DMD diagnosis (R2 = 0.87, p
Source: Journal of Developmental and Behavioral Pediatrics - Category: Child Development Tags: Brief Report Source Type: research