Abstract
Introduction. Pediatric demyelinating diseases (DDs) require prompt recognition and timely referral to specialized centers. In Kazakhstan, the diagnostic pathway is often prolonged due to limited awareness at the primary care level, non-standardized MRI protocols, heterogeneous expertise of regional neurologists, and restricted access to genetic testing. Methods. This study employed a qualitative design, using semi-structured interviews with 22 healthcare professionals involved in the diagnostic pathway for suspected pediatric DDs. Participants were recruited through purposive sampling. Descriptive statistics were applied to quantify the frequency of identified barriers and recurring themes. Results. Interviews with 22 specialists revealed multiple delays across the diagnostic pathway. 6 of 8 pediatricians reported insufficient awareness of early neurological red flags, and 5 of 8 noted frequent initial misdiagnoses such as encephalitis or vascular disorders. 18 of 22 specialists reporting long waiting times and 15 of 22 noting the lack of a standardized pediatric protocol. Limited expertise also affected care: 6 of 8 pediatric neurologists had little experience with rare demyelinating diseases, and 4 of 8 observed delayed referrals to national centers. Genetic diagnostics were similarly constrained, with 16 of 22 specialists reporting low availability and 15 of 22 citing long delays in obtaining confirmation, especially in suspected cases of leukodystrophy. Conclusion. The proposed trigger-oriented routing model addresses key diagnostic bottlenecks and aligns with international recommendations. Standardization of MRI protocols, checklists for primary care, structured referral criteria, and improved access to genetic testing may substantially reduce diagnostic delays and improve outcomes for children with suspected demyelinating diseases in Kazakhstan.