ArticleJournal of neurodevelopmental disorders2026
Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.
Article in Journal of neurodevelopmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAngelman syndrome (AS) is a rare neurogenetic disease that severely impacts a person’s health and daily living, requiring lifelong specialist care. This places substantial demands on caregivers, leading to a decline in physical and mental health, financial strain, and reduced quality of life. This study examines the association between a diagnostic journey in Angelman syndrome and parents’ quality of life.
methodsA self-administered, anonymous, computer-assisted online survey of 120 caregivers was conducted between March and August 2024. The Polish version of the WHO Quality of Life-BREF and the Consumer Financial Protection Bureau Financial Well-Being Scale were used. The collected information was imported into JASP 0.18.3.
results54.2% of caregivers experienced difficulties in obtaining timely diagnoses, 51.6% reported receiving misdiagnoses, and 87.4% consulted several specialists before the correct diagnosis was confirmed. Many caregivers believed that a delayed diagnosis harmed their children’s health (31.7%) and resulted in unwarranted or inappropriate hospitalizations (18.3%), medical procedures (26.7%), and medications (16.7%). Caregivers struggled to access genetic counselling and psychological support. AS caregivers had lower quality of life scores compared to the national average across all domains, including social relationships (85.8%), physical health (80.8%), environmental (72.5%), and psychological (61.7%). Caregivers’ quality of life was associated with economic stability, gender, and the timing of diagnosis.
conclusionThere is a need for better access to genetic testing, a holistic healthcare approach, and comprehensive support services for caregivers, as well as reliable information, psychological support, financial assistance, and social services.
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