Gaps in the Assessment and Care of Neurodevelopmental and Psychiatric Conditions Associated With Dystrophinopathy

Introduction/aims: While dystrophinopathies are primarily characterized by progressive muscle weakness with onset during childhood, dystrophin also plays a role in brain development. This study aimed to characterize how neurodevelopmental and psychiatric disorders are currently identified and managed in clinical care of those with Becker and Duchenne muscular dystrophy (BDMD).

Methods: Parent Project Muscular Dystrophy (PPMD) disseminated surveys to caregivers and health care providers (HCPs) in the United States to assess the frequency and management of neurodevelopmental and psychiatric disorders of those with dystrophinopathy.

Results: 320 caregivers (C) and 74 HCPs responded to surveys. Caregivers indicated higher rates of neurodevelopmental and psychiatric disorders than HCPs, including anxiety (50.5% C, n = 112; 17.8% HCP, n = 19), attention-deficit hyperactivity disorder (ADHD) (32.0% C, n = 73; 15.9% HCP, n = 17), obsessive-compulsive disorder (OCD) (25.9% C, n = 57; 11.2% HCP, n = 12), depression (21.6% C, n = 48; 18.7% HCP, n = 20), and autism spectrum disorder (ASD) (21.0% C, n = 47; 10.3% HCP, n = 11). Results also indicated gaps in the assessment and care of these conditions, including lack of routine screening, reduced access to psychologists and psychiatrists, and lack of clarity amongst HCPs about who should manage neurodevelopmental and psychiatric concerns in those with dystrophinopathy.

Discussion: Closing the identified gaps in assessment, perception, and care will require increased awareness of neurodevelopmental and psychiatric conditions in dystrophinopathy and screening tools to facilitate early identification of these conditions during routine clinical care.