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Children
Special Issues
Pediatric Neuropsychiatric Disorders: Diagnostic Challenges and Therapeutic Frontiers
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Pediatric Neuropsychiatric Disorders: Diagnostic Challenges and Therapeutic Frontiers

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Neurology & Neurodevelopmental Disorders".

Deadline for manuscript submissions: 10 September 2026 | Viewed by 928

Special Issue Editors

Dr. Giulia Spoto

E-Mail Website
Guest Editor
Unit of Child Neurology and Psychiatry, Department of Biomedical Sciences, Dental Sciences & Morpho-Functional Imaging, University of Messina, 98125 Messina, Italy
Interests: neonatal neurology; movement disorders; neurogenetics; autism
Special Issues, Collections and Topics in MDPI journals
Dr. Antonio Gennaro Nicotera

E-Mail Website
Guest Editor
Unit of Child Neurology and Psychiatry, University of Messina, 98125 Messina, Italy
Interests: neurology; epilepsy; neurogenetic
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pediatric neuropsychiatric disorders represent a highly heterogeneous group of conditions, including neurodevelopmental syndromes such as autism spectrum disorder and ADHD, early-onset movement disorders, and rare genetic encephalopathies. Their complex and overlapping symptomatology, evolving developmental trajectories, and frequent comorbidities pose major challenges to timely diagnosis and effective intervention.

This Special Issue aims to address the diagnostic and therapeutic complexities that characterize these disorders. We invite original research articles, systematic or narrative reviews, and clinically relevant case studies focusing on early identification strategies, novel biomarkers, neuroimaging and electrophysiological techniques, and advances in genetic and metabolic profiling. Special interest will be given to work exploring the interplay between clinical phenotypes and underlying pathophysiological mechanisms.

We also welcome studies that propose innovative therapeutic approaches, including pharmacological and non-pharmacological interventions, early and personalized treatments, and digital health technologies. Articles that integrate clinical, translational, and interdisciplinary perspectives are strongly encouraged.

By collecting high-quality research and clinical insights, this Special Issue seeks to promote a deeper understanding of pediatric neuropsychiatric disorders and support the development of more precise, individualized, and effective models of care.

Dr. Giulia Spoto
Dr. Antonio Gennaro Nicotera
Guest Editors

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.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 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

  • pediatric neuropsychiatric disorders
  • early-onset movement disorders
  • neurodevelopmental disorders
  • biomarkers and endophenotypes
  • neuroimaging and electrophysiology
  • genetic and metabolic profiling
  • precision medicine
  • innovative therapeutics
  • rare genetic encephalopathies
  • translational research

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

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11 pages, 895 KB  
Systematic Review
Muscle Imaging Approaches in Marinesco–Sjögren Syndrome: A Systematic Review and Two New Clinical Reports
by Bianca Buchignani, Giada Vega, Rosa Pasquariello, Gemma Marinella, Michela Tosetti, Guja Astrea and Roberta Battini
Children 2026, 13(3), 359; https://doi.org/10.3390/children13030359 - 2 Mar 2026
Viewed by 494
Abstract
Background: Marinesco–Sjögren syndrome (MSS, MIM #248800) is a condition that is characterized by biallelic pathogenic variants in the SIL1 gene. Manifestations include congenital cataracts, cerebellar ataxia, progressive muscle weakness and skeletal deformities, delay in psychomotor development, hypergonadotropic hypogonadism and short stature. Muscular [...] Read more.
Background: Marinesco–Sjögren syndrome (MSS, MIM #248800) is a condition that is characterized by biallelic pathogenic variants in the SIL1 gene. Manifestations include congenital cataracts, cerebellar ataxia, progressive muscle weakness and skeletal deformities, delay in psychomotor development, hypergonadotropic hypogonadism and short stature. Muscular involvement has been extensively discussed as a clinical finding but there is little literature on muscle imaging. The aim of this paper is to systematically review muscular imaging techniques in MSS reported in the literature, and to describe the clinical and imaging features of two pediatric subjects with MSS. Methods: Having searched through three electronic databases (PubMed, Scopus and Web of Science) two articles, written in English, describing twelve patients with MSS mutations on whom muscle MRI imaging was performed, were selected. In addition, two paediatric cases (brother and sister) with Marinesco–Sjögren syndrome (MSS) and MRI muscle findings were added. Data on type of study, cohort characteristics, type of mutation, neuromuscular signs and symptoms, imaging assessment, electrophysiological findings, biopsies, CNS symptoms, ocular signs and muscle imaging data were collected and stored in a table. Results: Of the 239 articles examined, only 3 used a muscle imaging technique to describe myopathy in MSS; one used a CT while another a muscle MRI. All 14 patients showed signs of fatty replacement. The infiltration mainly affected the lower limbs, but involvement in the upper limb was described in some adult patients. Conclusions: Performing a muscle MRI in MSS can lead to the early identification of muscle involvement and may be a useful biomarker to monitor disease progression. Full article
(This article belongs to the Special Issue Pediatric Neuropsychiatric Disorders: Diagnostic Challenges and Therapeutic Frontiers)
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