OBJECTIVES: Pediatric rare diseases exact a high toll on caregivers, impacting mental and physical health, quality of life (QoL), and finances. Literature emphasizes primary caregivers, usually mothers, without distinguishing maternal and paternal experiences. We sought to differentiate maternal and paternal burden in pediatric rare disease.

METHODS: We conducted a targeted literature review in PubMed, using search terms for rare diseases, parental caregiving, and caregiver health, QoL, and economic outcomes. A pearl-growing approach identified additional articles from key publications’ reference lists and citations, focusing on English-language papers published from 2018-2023. Included articles compared ≥1 outcome between mothers and fathers.

RESULTS: Eleven identified studies covered cystic fibrosis, cancer, Dravet syndrome, primary ciliary dyskinesia, and tuberous sclerosis complex, finding higher psychiatric impacts, lower QoL, and greater economic consequences on mothers versus fathers. Studies reported higher anxiety and depression rates (p<0.05), twice the rate of suicidal ideation (20% vs 10%), and ~50% higher rates of psychiatric hospital encounters among mothers. Caring Burden Inventory scores were 8.5x higher for mothers versus fathers; QoL (EQ-5D) was lower among female caregivers (time-tradeoff p=0.020; visual analogue scale p=0.039), as were utilities (p<0.001). Lost productivity drove maternal economic burden: 96.6% of mothers versus 60.9% of fathers administered time-consuming treatments; >50% of mothers and 7.1% of fathers reported >6-month work interruptions; 70.4% of mothers and 5.6% of fathers reported changed work situations; mean indirect costs were €4,399 versus €391.

CONCLUSIONS: This review highlights disproportionate maternal burden in pediatric rare disease. Limitations include the conventionally defined maternal focus of caregiving literature: most subjects are female, with no reporting on diverse gender identities, methods may inadvertently focus on female caregiving experiences, and few papers compare burden by parental sex. All those involved in pediatric rare disease management (clinics, advocates, policymakers, manufacturers, payers) have an opportunity to address this inequity and ameliorate the maternal impact of caregiving.