In the race to treat the physical limitations of Duchenne muscular dystrophy (DMD), cognitive issues are often overlooked, warned participants in an online conference session hosted by the nonprofit group CureDuchenne.

Tiffany Cook, MS, senior director of CureDuchenne Cares, moderated the discussion as part of the organization’s 3-day Futures 2021 event.

“It’s really easy to become hyperfocused” on the DMD itself and essentially tune out secondary diagnoses, said Danielle Forrest, OTR, an occupational therapist at Children’s Health and Rehabilitation Services in Dallas, Texas.

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“But oftentimes, it’s autism or behavioral diagnoses that really have a greater impact on the family,” said Forrest, noting that about a third of all boys and young men with Duchenne are autistic, another third have intellectual disabilities, and 20% have both. Yet, these difficulties are not always obvious.

“Our kids have difficulties with higher-level cognition and executive functioning, so they’re not necessarily disruptive. They don’t cause issues in school. They just kind of fly under the radar,” Forrest said. 

“If you’re a caregiver of a child with Duchenne and you feel they’re having difficulties that aren’t being identified in a clinical or school setting, you need to bring it up. It’s important for therapists to work with the family to determine what goals are the most important, and what their plan of care should look like.”

Mathula Thangarajh, MD, PhD, is an assistant professor of neurology at Virginia Commonwealth University in Richmond. She said the lack of dystrophin production—which is the root cause of DMD—has a clearly understood impact on muscle. But dystrophin’s function in the brain is somewhat of a mystery.

“There are several reasons why we don’t understand this very well. It could be that the brain is not very accessible, unlike muscle,” Dr. Thangarajh said. “What we do know has come a lot from animal and human studies. Dystrophin plays an important role in how neurons put out their branches, and how astrocytes and oligodendrocytes develop. The absence of dystrophin changes how individual cells react in the brain over time. But we don’t quite understand the consequences.”

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Missy Dixon, PhD, MS, visiting assistant professor of pediatrics at the University of Utah in Salt Lake City, said the term “mental health” usually carries negative connotations and should therefore be reframed in terms of mental well-being.

“What we do know is that the earlier the intervention, the better,” she said. “In terms of coping skills, this can have a huge impact.”

This is particularly true with regard to Duchenne boys, as more and more of them make it into adulthood, thanks to new therapies, said Matthew Harmelink, MD, a pediatric neurologist at the Medical College of Wisconsin in Milwaukee.

“We have to look at mental health in our kids, even if they don’t have any overt cognitive impairments compared to their peers,” Dr. Harmelink said. “As they get older, they also have to deal with the idea of life expectancy and loss of abilities. As we get more treatments for skeletal muscles and heart, we’re going to have to start looking at that.”


Quality of life panel: cognition in Duchenne. Presented at: CureDuchenne 2021 Futures National Conference: October 9, 2021; Virtual.