Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome

Aicardi Goutières syndrome is a type I interferonopathy that results in a spectrum of neurologic impairment. In general, neurodegenerative disorders of childhood strongly affect the quality of life and perspective of the whole caregiver network. This article aims to define the impact of Aicardi Goutières syndrome on affected individuals and families through a multimethod approach using quality of life surveys and qualitative interviews.Qualitative interviews (n = 45) and quality of life questionnaires, including the Pediatric Quality of Life-Generic Core (PedsQL-GC, n = 46) and Family Impact (PedsQL-FI, n = 45) modules, Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD, n = 30), and Caregiver Traumatic Brain Injury (TBI)-CareQoL (n = 37), were administered to caregivers of children with Aicardi Goutières syndrome. The open-ended interviews with guided questions addressed the caregivers' perception of Aicardi Goutières syndrome and determinants of quality of life. Interviews were conducted until thematic saturation and qualitative analyses generated salient themes. Per quality of life questionnaires, motor abilities and activities of daily living were more impaired compared with other domains (Comfort and Emotion, Psychosocial Health, [mixed effect analysis with Bonferroni correction, P < .0001; Wilcoxon signed-rank test, P < .0001, respectively). In the qualitative interviews, families described stress surrounding symptoms of Aicardi Goutières syndrome, poor neurologic development with communication and motor impairment, and the overall impact of the disease on the family. This study shows the profound effects of Aicardi Goutières syndrome on families, which have global implications for family life. CPCHILD and PedsQL-FI are the preferred tools for routinely assessing the impact of disease in the Aicardi Goutières syndrome population.