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.
Objective:
The primary objective of this cross-sectional study was to examine the association between time spent treating patients with Coronavirus disease 2019 (COVID-19) and levels of depression, anxiety, and posttraumatic stress disorder (PTSD) in US physicians.
Methods:
The authors conducted an anonymous online survey of US physicians. Linear regression was used to test the association between proportion of day treating COVID-19 and symptoms of depression, anxiety, and PTSD.
Results:
In a sample of 1724 US physicians, proportion of day treating COVID-19 was positively and significantly associated with depression, anxiety, and PTSD scores (
P
< 0.001 for each).
Conclusions:
Mental health resources should be provided to physicians who treat COVID-19 because the proportion of day treating COVID-19 is associated with depression, anxiety, and PTSD outcomes.
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