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Current Updates on the Diagnosis and Management of Immune-Mediated Neurological...
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Current Updates on the Diagnosis and Management of Immune-Mediated Neurological Disorders in Children

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

Deadline for manuscript submissions: closed (10 January 2026) | Viewed by 3659

Special Issue Editors

Dr. Maria Gontika

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Guest Editor
Neurological Department, Pendeli’s Children Hospital, Athens, Greece
Interests: neurology; pediatric neurology; neuroimmunology; demyelinating disorders
Dr. Markoglou Nikolaos

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Guest Editor
Neurological Clinic, Metropolitan General Hospital, Athens, Greece
Interests: neurology; neuroimmunology; demyelinating disorders
Dr. Maria Anagnostouli

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Guest Editor
1. Immunogenetics Laboratory, 1st Department of Neurology, Medical School of National and Kapodistrian University of Athens, Aeginition Hospital, Vas. Sophias, 74, 115 27 Athens, Greece
2. Multiple Sclerosis and Demyelinating Diseases Unit, Center of Expertise for Rare Demyelinating and Autoinflammatory Diseases of CNS, First Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, NKUA, Aeginition University Hospital, Vas. Sofias 72-74, 115 28 Athens, Greece
Interests: clinical immunology; immunogenetics; neurology; multiple sclerosis; demyelinating diseases; autoimmunity
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Immune-mediated neurological disorders in children represent a rapidly evolving field shaped by advances in neuroimmunology, imaging, genetics, and molecular diagnostics. These conditions—such as pediatric multiple sclerosis, MOG antibody-associated disease (MOGAD), neuromyelitis optica spectrum disorder (NMOSD), GFAP astrocytopathy, autoimmune encephalitides, pediatric myasthenia gravis, and interferonopathies—pose unique challenges due to their heterogeneous presentations, complex immune mechanisms, and potential for long-term developmental impact. Recent breakthroughs in biomarker identification and immunopathogenesis have facilitated earlier, more accurate diagnoses and the development of targeted, individualized therapies. As biologic treatments and precision medicine approaches become more integrated into clinical care, outcomes and quality of life for affected children continue to improve. This Special Issue brings together leading experts to present current updates, emerging treatment paradigms, and practical strategies for managing these disorders. Our aim is to provide clinicians and researchers with a comprehensive, up-to-date resource that supports optimal care in this challenging and dynamic area of pediatric neurology

Dr. Maria Gontika
Dr. Markoglou Nikolaos
Dr. Maria Anagnostouli
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

  • neuroimmunology
  • pediatrics
  • biomarkers
  • precision medicine
  • personalized treatment

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Published Papers (3 papers)

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Research

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15 pages, 999 KB  
Article
Interplay Between VCAM-1 and PGE2 Levels and Autism Spectrum Disorder Severity in Children—A Preliminary Single-Center Analysis
by Irakli Natroshvili, Tatia Gakharia, Sophia Bakhtadze, Tamar Natsvlishvili and Nana Khachapuridze
Children 2025, 12(11), 1488; https://doi.org/10.3390/children12111488 - 3 Nov 2025
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Abstract
Background: The clinical heterogeneity of autism spectrum disorders (ASDs) results from dynamic interactions between genetic susceptibility and environmental exposures. Autism is increasingly recognized as involving neuroimmune dysregulation, which may contribute to ASD severity. Several studies indicate that ASD patients exhibit increased levels of [...] Read more.
Background: The clinical heterogeneity of autism spectrum disorders (ASDs) results from dynamic interactions between genetic susceptibility and environmental exposures. Autism is increasingly recognized as involving neuroimmune dysregulation, which may contribute to ASD severity. Several studies indicate that ASD patients exhibit increased levels of VCAM-1, suggesting endothelial dysfunction and enhanced leukocyte infiltration into the brain, which may have adverse bearing on synaptic plasticity, axon growth, and repulsion. Similarly, elevated PGE2 drives microglial activation and excitotoxicity. The present study examines possible links between VCAM-1 and PGE2 levels and ASD severity. Methods: VCAM-1 and PGE2 concentrations were measured in children with ASD aged 2–6 years and analyzed for age effects and correlations with behavioral severity. Participants were grouped as mild, moderate, or severe based on Autism Diagnostic Observation Schedule-2 (ADOS-2) scores. Results: VCAM-1 levels were subnormal in 39.3% (n = 24), and PGE2 levels were above normal in 32.8% (n = 20). Mean VCAM-1 levels decreased significantly with age (F(4, 56) =2.98, p = 0.026) and also, were higher in moderate (U = 36.00, Z = −3.96, p < 0.001) and severe (U = 155.50, Z =−2.70, p = 0.007) ASD groups, with mean ranks rising from 14.46 (mild) to 41.13 (severe). PGE2 did not differ between severity and age groups (p > 0.05). VCAM-1 correlated moderately with ADOS-2 scores (rho = 0.577, p < 0.001), whereas PGE2 did not (rho = 0.108, p = 0.406), suggesting higher VCAM-1 is linked to increased behavioral severity in ASD. Conclusions: Inflammation-related biomarkers could be reflecting a heterogeneous set of neuroimmune mechanisms underlying ASD, which may drive behavioral outcomes. Full article
(This article belongs to the Special Issue Current Updates on the Diagnosis and Management of Immune-Mediated Neurological Disorders in Children)
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Review

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15 pages, 1340 KB  
Review
Neuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome
by Donato Rigante and Chiara Veredice
Children 2025, 12(11), 1530; https://doi.org/10.3390/children12111530 - 12 Nov 2025
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Abstract
Glycosaminoglycans (GAGs), also named ‘mucopolysaccharides’, are nodal constituents of the connective tissue matrix which go through synthesis, demolition, and reconstruction within several cellular structures: an abnormal GAG catabolism is the basis of progressive intra-lysosomal accumulation of non-metabolized GAGs, defining all mucopolysaccharidoses (MPS), protean [...] Read more.
Glycosaminoglycans (GAGs), also named ‘mucopolysaccharides’, are nodal constituents of the connective tissue matrix which go through synthesis, demolition, and reconstruction within several cellular structures: an abnormal GAG catabolism is the basis of progressive intra-lysosomal accumulation of non-metabolized GAGs, defining all mucopolysaccharidoses (MPS), protean disorders characterized by physical abnormalities and multi-organ failure depending on the specific site of non-renewable GAGs stored. A severe cognitive decline is typically observed in the Sanfilippo syndrome, which corresponds to MPS type III, a group of four inherited neurodegenerative diseases resulting from the lack of specific enzymes involved in heparan sulfate (HS) metabolism. As a consequence, the storage of partially degraded HS fragments within lysosomes of the central nervous system elicits chain inflammatory reactions involving the NLRP3-inflammasome in microglia and astrocytes, which cease their homeostatic and immune functions and finally compromise neuron survival. This article provides an overview of the neuroinflammatory picture observed in children with MPS type III, postulating a role of HS accumulation to prime innate immunity responses which culminate with pro-inflammatory cytokine release in the brain and highlighting the relevance of interleukin-1 as a main contributor to neuroinflammation. Full article
(This article belongs to the Special Issue Current Updates on the Diagnosis and Management of Immune-Mediated Neurological Disorders in Children)
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10 pages, 1307 KB  
Review
Seronegative Immune-Mediated Cerebellar Ataxia in Children: Autoimmune Encephalitis Spectrum Disorder or a Distinct Entity?
by Gontika Maria, Tsimakidi Chrysanthi, Salamou Eudokia, Prattos Theofanis, Kallias Nikolaos, Kilidireas Constantinos, Tzartos John and Gkougka Dionysia
Children 2025, 12(11), 1513; https://doi.org/10.3390/children12111513 - 8 Nov 2025
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Abstract
Pediatric seronegative immune-mediated cerebellar ataxia (IMCA) remains a poorly defined and often under-recognized diagnosis, particularly in young children, where symptoms are frequently misattributed to self-limited post-infectious processes. We report the case of a 2.5-year-old girl who presented with acute-onset ataxia (mSARA score: 14). [...] Read more.
Pediatric seronegative immune-mediated cerebellar ataxia (IMCA) remains a poorly defined and often under-recognized diagnosis, particularly in young children, where symptoms are frequently misattributed to self-limited post-infectious processes. We report the case of a 2.5-year-old girl who presented with acute-onset ataxia (mSARA score: 14). Cerebrospinal fluid analysis revealed pleocytosis and positive oligoclonal bands, while serial brain imaging and extensive autoantibody panels were unremarkable. However, indirect immunohistochemistry (TIIF/IHC) demonstrated a positive intracellular signal in cerebellar Purkinje cells, supporting the diagnosis of isolated seronegative IMCA. The patient showed sustained clinical improvement with prolonged corticosteroid therapy (mSARA score: 1). To date, only a few similar cases have been reported in the literature. It remains unclear whether these presentations fall within the spectrum of autoimmune encephalitis (AIE) or represent a distinct pediatric phenotype, potentially expanding the age range of primary autoimmune cerebellar ataxia previously described in adults. We recommend incorporating TIIF/IHC into the diagnostic workup of both isolated and combined pediatric cerebellar ataxia syndromes to support diagnosis and guide individualized treatment. Additionally, neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) are emerging as promising biomarkers in this context and warrant further investigation. Full article
(This article belongs to the Special Issue Current Updates on the Diagnosis and Management of Immune-Mediated Neurological Disorders in Children)
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