Parents of young boys with Duchenne muscular dystrophy (DMD), as well as parents of age-matched non-affected boys, are being sought to participate in an online observational study, being conducted at the University of California-Davis Neuromuscular Research Center in Sacramento, to explore the use of online screening tools to identify possible developmental delays and behavioral challenges in young boys with DMD.

Participation in the study requires approximately 60 to 90 minutes for parents to complete online questionnaires about their child’s development and behavior.

Parents for a total of 125 boys with DMD and 125 non-affected boys are needed.

Inclusion criteria for parents of sons with DMD:

• Parents must have a son younger than 7 years old (fewer than 84 months) with a diagnosis of DMD from a medical professional
• Parents must be able to read and write English
• Parents must have access to the internet

Parents of boys with DMD will be encouraged to invite a parent of a non-affected male peer to participate in the study, too.

Inclusion criteria for parents of non-affected sons:

• Parents must have a son younger than 7 years old (fewer than 84 months) who has not been diagnosed with DMD
• Parents must be able to read and write in English
• Parents must have access to the internet

The parent-completed questionnaires will be housed in a local data center at UC Davis Health System and all web-based information transmission is encrypted.

No doctor visits are required. Online surveys can be completed from home.

Goal is early identification of possible developmental delays and behavioral disorders

This study will evaluate the use of online screening tools to help with the early identification of possible developmental and behavioral challenges in young boys with DMD. The aim is to see if significantly more young boys with DMD are rated by their parents in the “at risk” range on developmental and behavioral screeners than non-affected boys.

Determining if boys with DMD are at a higher risk for developmental delays and behavioral disorders may lead to the use of these screening tools in clinic settings upon diagnosis of DMD, where early identification of such disorders could make it possible for more boys to receive the proper developmental assessments and early intervention services to meet all their developmental needs.

The study also aims to identify areas of unmet need for early intervention in young boys with DMD, in an attempt to identify services that could benefit these boys even before they attend school.

“While the range of treatment options for DMD patients is growing due to recent advances in novel therapeutics, additional understanding of variations in physical, cognitive and behavioral development will be required in order to adequately design and implement interventions for this youngest age group, who are also among the most likely to derive significant clinical benefit from those interventions,” Erik Henricson, Assistant Professor at the UC Davis Neuromuscular Research Center explains.

New study stems from previous MDA-supported work

In the United States, boys are typically diagnosed with DMD between four and five years of age — which excludes them from possible medical treatment, behavioral early intervention, or research until this age. In addition, once boys are diagnosed with the disease, their cognitive, language, social, and behavioral delays are not always identified.

Due to the delay in diagnosis, it has been difficult to characterize the behavioral characteristics of infants (birth to 12 months old) and toddlers (one year to three years old) with DMD.

However, in studies of the early development of infants and toddlers with DMD, conducted through MDA’s DMD Clinical Research Network, pediatric neurologist Anne Connolly at Washington University in St. Louis, and colleagues, demonstrated that although young children with DMD are gaining gross motor skills, the rate at which these skills develop is generally slower than that of children with typical development. In addition, it was found that developmental delays occur in children with DMD much earlier than previously recognized. The combination of delay in diagnosis of DMD and its associated developmental deficits makes it unlikely that boys with DMD have the opportunity to benefit from early medical treatment and early behavioral intervention in their first three years.

“This new online study stems from Dr. Anne Connolly’s studies of infants and young boys with DMD,” Wagner notes. “Dr. Connolly’s study was the first to use a global developmental assessment to look at all aspects of development in the very youngest boys with DMD and to track their development over time. Dr. Connolly is a champion for early identification and treatment of infants and young boys with DMD and her work has supported and inspired this new online study.

“Proper diagnosis of behavioral issues in children with DMD is the first step for parents and medical professionals in understanding the entire picture of what is going on with their child and getting the necessary treatment for developmental delays or behavioral conditions. It is important to the quality of life of the child with DMD and his family that behavioral and neuropsychological disorders get properly identified, diagnosed, and treated.”

To learn more, or if you are interested in participating, visit the study website, or contact Principal Investigator Amy Wagner at alwagner@ucdavis.edu or 415-497-0183.