Knowledge, attitudes, and clinical experiences of pediatricians regarding inherited metabolic diseases: a cross-sectional study

Abstract Background Inherited metabolic diseases (IMDs) constitute a heterogeneous group of disorders that represent significant causes of morbidity and mortality in the neonatal period and throughout childhood. This study aimed to evaluate the knowledge level, attitudes, and clinical experiences of pediatricians regarding IMDs. Methods This descriptive cross-sectional study was conducted among pediatricians working in different geographical regions of Türkiye. Data were collected through a 27-item online questionnaire designed to assess sociodemographic and professional characteristics as well as knowledge, attitudes, and clinical experience/practice related to IMDs. The final analysis included 169 participants who completed the questionnaire in full. Results The median age of the participants was 33 years, and 60.9% were female. The highest rates of correct responses were observed for questions related to the timing of newborn screening (91.1%) and the diseases included in the newborn screening program (77.5%). In contrast, lower accuracy rates were noted in practice-oriented domains such as treatment approaches (23.1%), common clinical manifestations (34.3%), prevention (41.4%), and clinical features suggestive of IMDs (46.7%). Overall, 67.5% of the participants reported a lack of self-efficacy in establishing a preliminary diagnosis of IMDs, 66.9% considered their prior training inadequate, and 79.9% reported difficulties in the follow-up of diagnosed cases. The participants who perceived their training as adequate had significantly higher total knowledge scores and a greater number of correct responses ( p = 0.038 and p = 0.028, respectively). In addition, participants who reported difficulties in the follow-up of diagnosed IMD cases had significantly lower fully correct scores ( p = 0.039). Conclusions The coexistence of relatively frequent clinical exposure with low self-efficacy, practice-oriented knowledge gaps, and difficulty in follow-up indicates an education-to-practice gap in IMD care. These findings support the need for structured, supervised, case-based training, together with accessible clinical decision-support and referral pathways, rather than relying on passive exposure or attendance at educational events alone.