Aims: Spina bifida (SB) is a complex condition, predisposing individuals to lifelong challenges in mobility, continence, and overall health. Care modalities are multimodal, and advancements have improved survival, shifting clinical focus towards optimizing long-term function and quality of life. The aim of this systematic review is to outline patient-reported outcome measures (PROMs) used to assess health-related quality of life (HRQOL) and other conditions in transitional SB patients, and to analyze factors influencing the results they provide.

Methods: We conducted a systematic review according to PRISMA guidelines, including sixteen studies with 2009 participants.

Results: Participants' ages ranged from 12 to 74 years, with a gender distribution of 59 % female. 72 % used CIC, 48 % had urinary incontinence and 32 % had bowel incontinence. The Pediatric Global Health 7 (PGH-7) and Neurogenic Bladder Symptom Score (NBSS) were the most frequently used tools, capturing general health and bladder-specific outcomes, respectively. The Quality of Life Assessment in Spina bifida (QUALAS) measures emerged as a concise, SB-specific tool addressing physical and psychosocial domains. CIC was linked to improved bladder-specific outcomes, though its effect on overall HRQOL was inconsistent. Mental health, literacy, and transition readiness significantly influenced HRQOL.

Conclusions: The use of PROMs in the treatment and research of individuals with SB proved to be surprisingly variable and fragmented. Disease-specific PROMs, such as QUALAS, are an obvious and necessary response to the problem emphasizing the continuous development of these tools to be more tailored to the target group. When complemented by targeted measures like NBSS, they offer a practical and comprehensive approach in understanding and improving HRQOL in SB patients. Optimizing bladder and bowel management, mental health, and social support remains critical for improving outcomes.

Level of evidence: III.