Abstract
Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental disorder. Despite the considerable impact on individuals and caregivers, no disease-modifying treatments are available. To support holistic clinical management and the development of AS-specific outcome measures for clinical studies, we conducted primary and secondary research identifying the impact of symptoms on individuals with AS and their unmet need. This qualitative research adopted a rigorous step-wise approach, aggregating information from published literature, then evaluating it via disease concept elicitation interviews with clinical experts and caregivers. We found that the AS-defining concepts most relevant for treatment included: impaired expressive communication, seizures, maladaptive behavior, cognitive impairment, motor function difficulties, sleep disturbance, and limited self-care abilities. We highlight the relevance of age in experiencing these key AS concepts, and the difference between the perceptions of clinicians and caregivers towards the syndrome. Finally, we outline the impact of AS on individuals, caregivers, and families.
Highlights
Angelman syndrome (AS) is a neurodevelopmental disorder resulting from deficient expression or function of the maternally expressed UBE3A gene [1]
Reviewed articles included: an updated consensus for AS diagnostic criteria, published AS Clinical Management Guidelines, and a conceptual model of AS published as a conference abstract [8, 17, 18]
In addition to symptoms and impacts associated with AS, the literature review explored the effects of AS on caregivers
Summary
Angelman syndrome (AS) is a neurodevelopmental disorder resulting from deficient expression or function of the maternally expressed UBE3A gene [1]. The ‘associated features’ are often part of the overall clinical phenotype for AS but occur in 20–80% of individuals with AS, including disturbed sleep, and excessive chewing or frequent drooling. While all these clinical features are important for characterizing AS, they are not expected to be important to clinicians for clinical management, or to caregivers for quality of life impacts
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