Newborn screening (NBS) for severe combined immunodeficiency (SCID) leads to early diagnosis and hematopoietic cell transplant (HCT). Limited studies are available on the quality of life (QoL) of SCID patients treated with HCT. We prospectively evaluated the QoL of SCID patients and families to assess the overall impact of HCT at the time of transplant and in follow-up.
Primary Immune Deficiency Consortium (PIDTC) Protocol 6901 is a prospective natural history study of infants with SCID. The health-related QoL of infants/young children was measured using the Pediatric Quality of Life Inventory (PedsQL) completed by parent-proxy, while parental and family burden was assessed using the PedsQL Family Impact Module. Age-appropriate questionnaires were offered at baseline (pre-HCT) and 12, 24, and 48 months post-HCT. Patients transplanted between 2010 and 2021 who completed ≥1 baseline or post-HCT survey were included in this analysis. Scores were transformed to a 0–100 scale, with higher scores indicating better QoL or family functioning.
Of 249 families, 144 (57.8%) completed baseline QoL surveys (supplementary table). Population characteristics did not differ significantly between patients with completed QoL surveys and those without. At baseline, parent-proxy overall QoL mean was 78.75 (n = 141, SD = 15.36). The association of trigger for diagnosis with baseline overall QoL was significant (p = 0.0002). Lower overall QoL was reported by patients diagnosed by clinical symptoms such as infection compared with patients diagnosed by family history (95% confidence interval [CI]: −17.49, −1.76, p = 0.02) or by NBS (95% CI: −18.44, −6.77, p < 0.0001). Families reported significantly higher mean overall Family Impact scores, including subscales at 12, 24, and 48 months post-transplant, compared with baseline (Figure 1 A), reflective of decreased burden of chronic illness on parents and families. Improved mean parent-proxy overall QoL and physical health scores were reported at 12 months post-transplant (Figure 1 B).
(A) Mean and confidence interval plots for PedsQL Family Impact Module scores from pretransplant (“baseline”) to 48 months post-transplant reported by families or caregivers of children with SCID. The PedsQL Family Impact Module is a tool used to measure the impact of chronic health conditions on parents/families. Scores are reported on a scale of 0–100, with higher scores indicating better family functioning. (B) Mean and confidence interval plots for PedsQL Scores (parent-proxy) from pretransplant (“baseline”) to 48 months post-transplant reported by families/caregivers of children with SCID. The PedsQL (and PedsQL Infant scales in patients 0–24 months old) are tools designed to measure health-related QoL in infants and children. Scores are reported on a scale of 0–100, where higher values reflect better health-related QoL as reported by parents and/or patients.
(A) Mean and confidence interval plots for PedsQL Family Impact Module scores from pretransplant (“baseline”) to 48 months post-transplant reported by families or caregivers of children with SCID. The PedsQL Family Impact Module is a tool used to measure the impact of chronic health conditions on parents/families. Scores are reported on a scale of 0–100, with higher scores indicating better family functioning. (B) Mean and confidence interval plots for PedsQL Scores (parent-proxy) from pretransplant (“baseline”) to 48 months post-transplant reported by families/caregivers of children with SCID. The PedsQL (and PedsQL Infant scales in patients 0–24 months old) are tools designed to measure health-related QoL in infants and children. Scores are reported on a scale of 0–100, where higher values reflect better health-related QoL as reported by parents and/or patients.
Patients diagnosed with SCID through NBS reported higher pre-transplant QoL than those diagnosed by family history or clinical presentation. HCT was associated with sustained improved parent and family functioning, indicated by higher Family Impact scores post-transplant. Further analysis is forthcoming to identify pre- and peri-transplant variables as well as post-transplant complications, such as graft-versus-host disease, that may impact patient QoL following treatment.
