Quality of life of children affected by rare diseases: a systematic review and meta-analysis

The aim of this study was to analyze, through a systematic review and meta-analysis, the perceived quality of life (QoL) of children diagnosed with rare diseases and to examine potential moderating variables. Twenty-four samples (k = 24; N = 1030) were identified in 8 studies that met the inclusion criteria. Results showed good levels of quality of life, although perceived quality of life was lower compared to the general population. Substantial heterogeneity was found across studies (I² = 86.7%). Meta-regression analyses identified significant moderating effects for geographic region, type of measurement instrument, and type of disease. No evidence of publication bias was detected (Egger’s test, p = .62). These findings highlight the need to strengthen comprehensive care, healthcare coordination and psychosocial support for affected children and their families