JIM 2025;
2 (4): e1050
DOI: 10.61012_202511_1050
Nursing perspectives on inherited metabolic disorders: experience and educational needs in an Italian hospital setting
Topic: Inherited Metabolic Diseases in Paediatric Age
Category: Original article
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Abstract
Objective: The aim of this study was to assess the clinical experience and training needs of nursing staff involved in the care of patients with inherited metabolic disorders (IMDs), a group of rare diseases that require specialized, multidisciplinary management and are currently underrepresented in nursing education.
Subjects and Methods: A cross-sectional, single-center survey was conducted at Fondazione IRCCS San Gerardo dei Tintori (Monza, Italy). An 18-item online questionnaire was distributed to 500 nurses across 23 hospital units. The survey addressed demographics, clinical experience, and educational exposure related to IMD care. Descriptive statistics were used to analyze the responses.
Results: A total of 104 nurses (21%) completed the survey. Among them, 87% had assisted at least one IMD patient, and 82% perceived the nursing care as highly complex. While routine procedures such as blood glucose monitoring and enteral nutrition were commonly performed, IMD-specific interventions (e.g., intravenous arginine administration or enzyme replacement therapy) were rarely carried out. Emotional responses to IMD care included uncertainty (53%), concern (50%), and a sense of inadequacy (46%). Formal training was limited: 54% had not received IMD-related education during their studies, and 48% had never attended relevant courses. Notably, 92% expressed a desire for further training in this area.
Conclusions: Despite frequent clinical exposure to IMD patients, most nurses reported limited formal training and low procedural confidence. These findings underscore the need for structured, IMD-focused educational initiatives to enhance nursing competence and support high-quality, multidisciplinary care for rare disease populations.
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To cite this article
Nursing perspectives on inherited metabolic disorders: experience and educational needs in an Italian hospital setting
JIM 2025;
2 (4): e1050
DOI: 10.61012_202511_1050
Publication History
Submission date: 30 Jun 2025
Revised on: 21 Jul 2025
Accepted on: 22 Oct 2025
Published online: 29 Nov 2025