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Nutritional Management in Pediatric Rare Diseases

A special issue of Nutrients (ISSN 2072-6643). This special issue belongs to the section "Pediatric Nutrition".

Deadline for manuscript submissions: 25 May 2026 | Viewed by 1092

Special Issue Editor


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Guest Editor
Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland
Interests: motor development; motor performance; infant; children; scales; Vojta method; neurology; spinal muscular atrophy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Rare diseases are very diverse, often have a genetic basis (approximately 80%) and are typically characterized by a severe, chronic course, with half of the cases manifesting in children. These conditions are often life-threatening or disabling, with a severe and progressive course.

Rare diseases with a neurological basis include spinal muscular atrophy, Duchenne muscular dystrophy and others. They are characterized by problems with motor development (fine and gross motor skills), resulting in structural and respiratory disorders, as well as nutritional problems.

It appears that proper nutrition for patients with rare diseases, including neuromuscular diseases, has a significant impact on their functioning and, consequently, quality of life. I would like to address the extremely important topic of Nutritional Management in Pediatric Rare Diseases. I invite you to join the discussion and share your experiences regarding nutrition in the pediatric population of rare diseases and its impact on development and quality of life.

Dr. Ewa Gajewska
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare diseases
  • nutrition
  • development
  • quality of life
  • treatment
  • health

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Published Papers (1 paper)

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Review

18 pages, 675 KB  
Review
Nutritional Issues in Children with Congenital Heart Diseases (CHDs)
by Giovanna Fernanda Vazzana, Alessia Romano and Claudio Romano
Nutrients 2025, 17(24), 3936; https://doi.org/10.3390/nu17243936 - 16 Dec 2025
Viewed by 890
Abstract
Infants and children with congenital heart diseases (CHDs) are especially susceptible to malnutrition. The pathogenesis of nutritional disorders in this population reflects a multifactorial balance between increased metabolic demands, reduced dietary intake, and altered nutrient absorption. This narrative review summarizes current knowledge on [...] Read more.
Infants and children with congenital heart diseases (CHDs) are especially susceptible to malnutrition. The pathogenesis of nutritional disorders in this population reflects a multifactorial balance between increased metabolic demands, reduced dietary intake, and altered nutrient absorption. This narrative review summarizes current knowledge on the prevalence, risk factors, and underlying mechanisms of malnutrition in paediatric CHDs. It also discusses available tools for nutritional assessment, practical strategies for dietary management, and perioperative considerations. Early identification through screening, combined with individualized nutritional support and multidisciplinary care, is essential to optimize growth and enhance clinical recovery. Special attention is given to feeding difficulties, micronutrient imbalances, and the contribution of human milk and energy-dense feeding approaches in promoting growth. Integrating nutrition into cardiac management is essential to improve both short- and long-term outcomes. Future research should focus on the development of standardized, evidence-based protocols and the implementation of precision nutrition in paediatric CHDs. Full article
(This article belongs to the Special Issue Nutritional Management in Pediatric Rare Diseases)
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