FAMILY IMPACT OF ADULT ANGELMAN SYNDROME: CAREGIVER PERSPECTIVES
Author(s)
Manpreet K. Sidhu, BA, MBA, PhD1, Heidi Blackburn, CPA2, Daphne Davis, NA3, Pia Manzi, NA4, Lesley McCullough McCallister, NA5, Theresa Parenteau, PhD6, Sally L. Sansom, BSc, MPH7, Robin Wilkerson, PhD8, Abigail Lore, MPA9;
1Ultragenyx Pharmaceutical Inc., Executive Director, Global HEOR and Epidemiology, Novato, CA, USA, 2Caregiver, Oakville, ON, Canada, 3Caregiver, Cincinnati, OH, USA, 4Caregiver, Milan, Italy, 5Caregiver, Charleston, WV, USA, 6Caregiver, Jacksonville, FL, USA, 7Health Economics Research Centre, University of Oxford, Headington, United Kingdom, 8Caregiver, Jackson, MS, USA, 9Ultragenyx Pharmaceutical Inc., Novato, CA, USA
1Ultragenyx Pharmaceutical Inc., Executive Director, Global HEOR and Epidemiology, Novato, CA, USA, 2Caregiver, Oakville, ON, Canada, 3Caregiver, Cincinnati, OH, USA, 4Caregiver, Milan, Italy, 5Caregiver, Charleston, WV, USA, 6Caregiver, Jacksonville, FL, USA, 7Health Economics Research Centre, University of Oxford, Headington, United Kingdom, 8Caregiver, Jackson, MS, USA, 9Ultragenyx Pharmaceutical Inc., Novato, CA, USA
OBJECTIVES: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe cognitive/speech impairment, sleep disorders, motor dysfunction, and hyperactivity/noncompliance. There are no approved therapies for AS. This study aimed to characterize the impact caring for a person with AS into adulthood has on caregivers and family members.
METHODS: Seven current and future caregivers were recruited globally for individual, one-hour interviews.
RESULTS: Five parents and two siblings of adults with AS (18-37 years old) were interviewed. Caregivers reported that individuals with AS require constant supervision and support for basic activities of daily living. Sleep disturbances, communication issues, anxiety, and limited ambulation were noted as difficult symptoms to manage. A majority of caregivers described leaving the workforce to care for their child with AS, limiting earning potential. Most caregivers who discontinued gainful employment outside the home never returned to the workforce. Caregivers of adults with AS must facilitate transition from pediatric to adult healthcare providers, make financial and medico-legal arrangements, and find day habilitation programs to replace school. Many facilities for adults closed during the COVID-19 pandemic and never reopened, impacting nearly all caregivers. Most individuals with AS were covered under a complex combination of government-funded programs and private insurance that varied from state to state within the U.S. and from country to country ex-U.S. Most caregivers indicated that they participate in annual meetings of the Angelman Syndrome Foundation (ASF) and/or the Foundation for Angelman Syndrome Therapeutics (FAST) to foster connection with other families and individuals with AS and to contribute to advocacy and therapy development efforts. Some caregivers have been members of the boards of different patient advocacy organizations over the years.
CONCLUSIONS: Caregivers of individuals with AS reported substantial and persistent caregiving burden that extends across the lifespan of an individual with AS and impacts all aspects of family life.
METHODS: Seven current and future caregivers were recruited globally for individual, one-hour interviews.
RESULTS: Five parents and two siblings of adults with AS (18-37 years old) were interviewed. Caregivers reported that individuals with AS require constant supervision and support for basic activities of daily living. Sleep disturbances, communication issues, anxiety, and limited ambulation were noted as difficult symptoms to manage. A majority of caregivers described leaving the workforce to care for their child with AS, limiting earning potential. Most caregivers who discontinued gainful employment outside the home never returned to the workforce. Caregivers of adults with AS must facilitate transition from pediatric to adult healthcare providers, make financial and medico-legal arrangements, and find day habilitation programs to replace school. Many facilities for adults closed during the COVID-19 pandemic and never reopened, impacting nearly all caregivers. Most individuals with AS were covered under a complex combination of government-funded programs and private insurance that varied from state to state within the U.S. and from country to country ex-U.S. Most caregivers indicated that they participate in annual meetings of the Angelman Syndrome Foundation (ASF) and/or the Foundation for Angelman Syndrome Therapeutics (FAST) to foster connection with other families and individuals with AS and to contribute to advocacy and therapy development efforts. Some caregivers have been members of the boards of different patient advocacy organizations over the years.
CONCLUSIONS: Caregivers of individuals with AS reported substantial and persistent caregiving burden that extends across the lifespan of an individual with AS and impacts all aspects of family life.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
PCR104
Topic
Patient-Centered Research
Topic Subcategory
Patient Behavior and Incentives
Disease
SDC: Neurological Disorders, SDC: Rare & Orphan Diseases