Individuals with Angelman syndrome (AS) are known to have an increased likelihood of exhibiting challenging behavior, especially in situations that are anxiety provoking. These behaviors substantially affect family functioning and caregiver mental health. However, there is not a well-established and validated measurement that helps capture the frequency, nature, and severity of challenging behavior in people with intellectual disability, much less in conditions like AS, where communication challenges are a significant problem.
The FDA developed a series of four methodological patient-focused drug development (PFDD) guidance documents which highlights the importance of using patient input to identify endpoints that are important and valid. As several potential future therapies for AS are being developed, an assessment that appropriately and objectively measures behavioral symptoms is needed.
The mission of Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.