PD928 - NUTRITIONAL STATUS IN A GROUP OF CHILDREN WITH RARE DISEASES

Linked sessions

PD928

NUTRITIONAL STATUS IN A GROUP OF CHILDREN WITH RARE DISEASES

J. Lenardič1,2,*, E. Brecelj3, K. Groleger Sršen1,2, E. Peklaj1,4

1University Rehabilitation Institute Republic of Slovenia, 2Faculty of Medicine University of Ljubljana, Ljubljana, 3Faculty of Health Sciences , University of Primorska , Izola, 4Faculty of Sports, University of Ljubljana, Ljubljana, Slovenia

 

Rationale: Rare diseases are defined in Europe as conditions affecting fewer than 5 in 10,000 individuals. Collectively, they affect approximately 3.5–5.9% of the population and frequently present in childhood, often impacting growth, development, and nutritional status. This study aimed to assess the risk of malnutrition and the prevalence of nutritional disorders in children with rare diseases.

Methods: This retrospective study included 121 children with rare diseases (61 girls, 60 boys; mean age 6.9 ± 3.5 years) treated at the University Rehabilitation Institute Soča, Slovenia, between January 2024 and October 2025. Nutritional risk was assessed using STAMP Questionnaire. Anthropometric parameters (weight, height, BMI percentiles), body composition by bioelectrical impedance analysis, feeding modality, and nutritional diagnoses were evaluated.

Results: A total of 92% of children were at risk of malnutrition (55% moderate, 37% high risk). Malnutrition was confirmed in 33% (13% mild, 12% moderate, 8% severe). BMI was below the 5th percentile in 26% and above the 95th percentile in 9% of participants. Enteral nutrtion via tube was required in 15% of children. Body composition analysis revealed reduced body cell mass in 44%, altered total body water in 24%, and increased fat mass in 27%.

Conclusion: Nutritional disorders are highly prevalent in children with rare diseases, encompassing both undernutrition and overnutrition. These findings highlight the need for routine nutritional screening, early identification of at-risk patients, and timely, individualized nutritional interventions. Integration of structured nutritional care into multidisciplinary paediatric management is therefore an important component of care for children with rare diseases. 

Disclosure of Interest: None declared