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New FAST and ABOM Study Focuses on Motor Function as a Critical Aspect of Angelman Syndrome

This study, published out of the work supported by FAST and the Angelman Syndrome Biomarker and Outcome Measure Consortium (ABOM), focused on understanding how Angelman syndrome (AS) affects the way people move and walk, and how these movement problems impact both the individuals living with AS and their caregivers. 

The researchers conducted interviews with 24 caregivers of individuals living with Angelman syndrome (AS). These caregivers shared their experiences and perspectives on how AS affects their loved one’s ability to move and walk. They discovered that the way people walk, or their gait, were commonly affected in individuals living with AS. This impacted activities related to motor function like climbing stairs, maintaining balance, and running, which are all significant challenges in those living with AS.

Caregivers emphasized the importance of physical therapy and motivation in helping individuals living with AS improve their motor skills. They also mentioned that aspects like medication and age could influence how well their loved ones could move. Interestingly, they found that age played a big role in motor function, with some individuals getting better at motor function as they grew older, while others experienced a decline.

The study also revealed that impaired motor function not only significantly impacted the individual living with AS, but also their caregivers. It raised safety concerns, as falls and difficulty navigating various environments were common. This was highlighted in the interviews and feedback by caregivers. Additionally, the financial cost of caring for someone living with AS, including medical expenses and equipment that supported mobility, was a notable burden on caregivers.

To better understand and measure motor function in AS, the researchers discussed the potential of using wearable technology. This technology could provide objective data on motor skills and help monitor the effectiveness of treatments and therapies. Caregivers generally viewed wearable devices positively. 

Overall, this research emphasized the importance of considering motor function as a critical aspect of AS and highlighted the need for better ways to assess and improve motor skills in individuals with this disorder. Because of this, the researchers conducting this study created a motor-focused concept model for AS, highlighting the significance of motor function in this disorder and its impact on the entire family. The researchers identified six crucial motor aspects, including gait, walking, climbing stairs, falls, running, and balance, as potential candidates to focus on as new clinical endpoints to assess for change in clinical trials in AS. This research paves the way for further exploration and the development of more objective measures that can assess important aspects of motor function in individuals living with AS.

You can read the article here.