By Jonathan Blaize, PhD, Medical Science Liaison, Medical Affairs, PTC

To promote awareness of common behavioral concerns, provide a platform for scientific exchange amongst clinicians and to identify best practices for the management of patients with Duchenne muscular dystrophy (DMD), PTC partnered with Dr. Natalie Truba in 2020 to create a colloquium series focused on the psychological and behavioral considerations required for improved patient care. Dr. Truba is a pediatric psychologist at Nationwide Children’s Hospital in Columbus Ohio and renowned expert in treating patients with DMD.

DMD is a rare and progressive neuromuscular disorder that manifests in children born without functional dystrophin, a protein responsible for maintaining cell membrane integrity.1 Dystrophin loss triggers an unrelenting inflammatory cycle, resulting in irreversible replacement of lean muscle with non-contractile tissue.1,2  Suspicion of DMD typically occurs after observation of developmental delays or difficulty with age-appropriate motor functions, such as rising from the floor, and diagnosis is confirmed by genetic testing.1,3   

While known to be critically important in both skeletal and cardiac muscle cells, scientists continue to learn about the role of dystrophin in the central nervous system.4 It is reported that approximately one-third of the DMD population suffers from some form of intellectual disability.5  In fact, cognitive impairment was reported in a proportion of patients by Duchenne himself in 1861!It is estimated that 7% of DMD boys are on the autism spectrum (ASD), 18% live with attention-deficit hyperactivity disorder (ADHD) and 24% suffer from anxiety.8,9 Though the relationship between DMD, the brain and behavior is unclear, preclinical studies have suggested that dystrophin contributes to neural inhibition, with disruptions resulting in increased stress and impaired executive function.10

Understanding psychological sequalae is difficult given the breadth and complexity of biophysiological processes behind emotional and behavioral presentations;11 this underscores the importance of timely recognition of neurocognitive symptoms and appropriate intervention when treating individuals with DMD. In clinical practice, challenges surrounding the frequency and reliability of mental health assessment in those living with DMD, knowledge of effective support strategies and problems associated with medication are most prevalent. At home, families report challenges with focus and learning, difficulty sleeping, rash decision making, unpredictable aggression, and remain frustrated by access to trusted support resources. It is for these reasons that Dr. Truba and PTC created the colloquium series on DMD and behavioral considerations.

Across two years, Dr. Truba led eight virtual meetings attended by over 60 healthcare professionals from 16 different organizations. Through each session Dr. Truba discussed brain pathophysiology of children with DMD and its impact on development, calling attention to how changes in their autonomic response to stress induced hyperarousal. Other discussion topics within the sessions included:

  • Strategies to proactively manage behavior and mitigate overstimulation, including structured and unstructured exercises for expression and mandatory breaks from stimulating activities.
  • When to pursue medication for children suffering from moderate to severe psychological and behavioral challenges.
  • The importance of familial mental health screening given the tremendous emotional burden associated with caregiving, regardless of condition, and often unrecognized behavioral manifestations in carrier moms.

Patients living with DMD experience unique psychological and behavioral issues that demand an individualized therapeutic and clinical approach well aligned with those providing care at home and at school. The importance of identifying a mental health provider willing to develop tailored care programs or one with experience treating those with DMD were two of several key takeaways from the colloquium. Dr. Truba emphasized:

  • The importance of an age-matched therapeutic approach, including palliative therapy to support older, adult transitioning individuals.
  • Collaboration with educational staff is paramount to reinforce techniques implemented at home; routine breaks, expectation management and modifications to accommodate physical limitations when necessary.
  • Structured video game play time can improve mental wellbeing and promote socialization.
  • Sleep is often overlooked but has a major impact on a patient’s quality of life. Data supports the use of ventilatory support to improve restorative sleep but there remains a need for additional research.12 Moreover, certain antidepressants can support sleep and hyperarousal,14 however, patients with metal health disorders should be carefully monitored.
  • Behavioral management strategies must be exercised alongside therapies with demonstrated efficacy in slowing fibrofatty infiltration of muscles.3

To capture the many learnings of this series and to provide the community with a comprehensive resource, PTC once again partnered with Dr. Truba to create “Understanding how the pieces fit together: behavior in Duchenne” a toolkit for use by practitioners when navigating behavioral health with families and care givers of individuals living with Duchenne. Designed to be intuitive and accessible, this interactive document recounts, in plain language, the meaning of behavior, the importance of dystrophin, common signs and symptoms, how to maximize multidisciplinary care visits, and strategies for effective behavioral management at home and school for those who are seeking support when away from the clinic.  

  1. McDonald, CM., et al. Lancet 2018;391(10119)451-461
  2. Rosenberg, A., et al.  Science Translational Medicine 2015 ;299(7)p299
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