Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges

Abstract

Single large‐scale mitochondrial deletion syndromes (SLSMDS) are ultra‐rare, progressive multi‐system diseases that make children largely dependent on their caregivers for both medical and non‐medical needs. Yet, few studies have examined the burden felt among caregivers. As part of a larger research study, 42 caregivers of children with SLSMDS completed two surveys to assess caregiver burden. The Mitochondrial Care Network Patient Needs Survey (MCN‐PNS) is a novel assessment that examines the logistical, time, and financial costs experienced by caregivers of children with SLSMDS. The Zarit Burden Interview (ZBI‐22) is a validated assessment that examines caregivers’ psychological health. Results demonstrate the unique burden experienced by caregivers of children with SLSMDS. One notable finding was the high psychological burden. Nearly 90% of caregivers experience psychological burden, with 20% of caregivers at risk for anxiety and depression. Caregivers were primarily concerned about what the future held for their child. Additional burdens included the time required to coordinate the child's healthcare visits and financial strains. Caregivers reported minimal delays in establishing care with a mitochondrial care specialist and felt confident in their understanding of their child's disease and treatment(s). Overall, there is a need for expanded logistical, financial, and psychological support from mitochondrial disease centers and advocacy groups for caregivers of children with SLSMDS.

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

“…Indeed, many of the parents interviewed felt overwhelmed and unsupported. This is in keeping with previous literature showing that families of children affected by a PMD often experience high levels of financial and caregiver burden [12,13,18,23]. Parents in our study highlighted a need for better health insurance subsidies, and improved access to supportive therapies including physiotherapy, and psychological support.…”

“…The limited number of studies exploring psychosocial experiences of parents caring for children with PMDs primarily discuss maternal experiences [12][13][14][15]. Conducting separate interviews with parents allowed us to gain greater insight into the paternal perspectives of managing a child with PMD.…”

“…Understanding caregiver burden is important for natural history studies to describe the overall effects of a rare disease [12]. Compared to the number of clinical and biochemical publications pertaining to mitochondrial disease, few studies have explored the needs and challenges of families living with mitochondrial disease, and all of them predominantly focus on maternal perspectives [12][13][14][15][16][17][18].…”

“…Understanding caregiver burden is important for natural history studies to describe the overall effects of a rare disease [12]. Compared to the number of clinical and biochemical publications pertaining to mitochondrial disease, few studies have explored the needs and challenges of families living with mitochondrial disease, and all of them predominantly focus on maternal perspectives [12][13][14][15][16][17][18]. Mothers of children with mitochondrial disease reported significantly greater socioeconomic and psychoaffective strain and also required more healthcare resources compared to mothers of children with Phenylketonuria (PKU), another inborn metabolic disease, however one for which successful treatment is available and lined out in guidelines [13].…”

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

“…Understanding caregiver burden is important for natural history studies to describe the overall effects of a rare disease [12]. Parents caring for children with ultra-rare diseases often feel burdened by their children's health problems and emotional and behavioral changes, and they may experience considerable stress and dissatisfaction with healthcare services [13].…”