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Abstract Details

Caregiver insight on the core domains in Angelman syndrome
Child Neurology and Developmental Neurology
P13 - Poster Session 13 (5:30 PM-6:30 PM)
5-013
To describe the most relevant and challenging features of Angelman syndrome (AS) for caregivers.
AS is a rare, genetic, neurodevelopmental condition characterized by a heterogenous, broad range of symptomatology including behavior-related abnormalities, motor and communication impairment, and sleep disturbances. The heterogeneity of symptomatology in AS poses a significant challenge to selection of relevant measurements of efficacy for therapeutic development trials. Therefore, a thorough appreciation of the most relevant and challenging aspects of AS to patients and their caregivers is essential to the successful evaluation of new treatments. 
Interviews with AS caregivers were conducted to assess the relevance of four core clinical domains, each comprised of features of AS considered the most relevant in the literature: 1) Language and Communication, 2) Behavior, 3) Motor Skills, and 4) Sleep. Qualitative assessment of the interviews was conducted based on transcripts. 

Within the communication domain, an inability to express physical or emotional pain was a primary concern. Within the behavior domain, the largest challenges centered around acts of physical aggression and potential infliction of injury either to self or others. For those caregivers with children who struggled with severe gross motor challenges, especially as their children grow older and become more difficult to carry, this had a significant impact on day-to-day quality of life. Lastly, although challenges varied in type and consistency for the sleep domain, night awakenings carried the most adverse impact on quality of life. 

Successful evaluation of potential benefit in trials of therapies for heterogenous patient populations relies critically on creation and utilization of outcome measures that effectively capture those clinical domains relevant to care and quality of life for this population. The Clinical Global Impression-Improvement AS (CGI-I-AS) and Clinical Global Impression-Severity-AS (CGI-S-AS) are designed for evaluation of AS-specific treatments and features of potential clinical impact.
Authors/Disclosures
Anna Lee
PRESENTER 		No disclosure on file
No disclosure on file
Aaron Tansy, MD Dr. Tansy has received personal compensation for serving as an employee of PTC Therapeutics, Inc.. Dr. Tansy has stock in PTC Therapeutics, Inc..
Alexander Kolevzon Alexander Kolevzon has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ovid Therapeutics. Alexander Kolevzon has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Acadia. Alexander Kolevzon has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ovid Therapeutics. Alexander Kolevzon has received stock or an ownership interest from Ovid Therapeutics. The institution of Alexander Kolevzon has received research support from AMO Pharma. Alexander Kolevzon has received publishing royalties from a publication relating to health care.