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Special Issue "Diagnosis and Treatment in Childhood Epilepsy"

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A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Child Neurology".

Deadline for manuscript submissions: 20 January 2024 | Viewed by 6175

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Dr. Debopam Samanta

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Guest Editor

Department of Pediatrics, University of Arkansas Medical Sciences, Little Rock, AR, USA
Interests: epilepsy; child neurology; clinical neurophysiology; EEG analysis; tuberous sclerosis; neurometabolism; neurogenetics

Special Issue Information

Dear Colleagues,

Epilepsy is the most common serious chronic neurological condition in children. Although there are some parallels, the diagnosis and treatment of childhood epilepsy might differ significantly from adult-onset epilepsy. Some epileptic disorders, such as infantile spasms, Dravet syndrome, and Lennox–Gastaut syndrome appear uniquely depending on age. Furthermore, the objective in treating these children is to enhance cognition, learning, school performance, and seizure freedom with minimal adverse effects.

Although seizures and epilepsy have been diagnosed and treated since ancient times, there is cutting-edge research in many aspects of childhood epilepsy that we wish to highlight in this Special Issue.

The International League Against Epilepsy recently published a new epilepsy classification scheme that would aid the prompt diagnosis and appropriate treatment of epilepsy. Furthermore, the global epilepsy community will have a common language to effectively communicate about the numerous dimensions of epilepsy, including a better appreciation of different comorbid conditions. Various facets of epilepsy, including epileptogenesis and underlying pathophysiology, are now being elucidated due to advances in genetics, neuroimaging, and neuroimmunology. In addition, advances in genetics paved the way for precision therapeutics.

Many new antiseizure medicines with novel mechanisms of action have been approved for childhood-onset rare epilepsy syndromes. Despite the advent of new and effective pharmacologic therapies, about 20–30% of children have drug-resistant epilepsy (DRE). Various efforts (dietary therapies, neurostimulation, new epilepsy surgical approaches) are underway to expand nonpharmaceutical options to decrease seizure frequency and improve the quality of life of these children living with DRE. Vagus nerve stimulator therapy has long been available for children with DRE, but responsive neurostimulation therapy and deep-brain stimulation therapy are now on the horizon, both of which are approved for adults with refractory epilepsy. Less-invasive surgical techniques are also explored in children with epilepsy, including laser interstitial thermal ablation. These recent advancements underscore one of the most exciting periods in childhood epilepsy. We feel the extensive discussion of cutting-edge research will strongly influence the practice in clinicians managing childhood epilepsy.

On behalf of the Editorial Office, we invite you to contribute your research papers and review articles for peer review and possible publication.

Dr. Debopam Samanta
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 100 words) can be sent to the Editorial Office for announcement on this website.

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

epilepsy
seizure
antiepileptic drugs
antiseizure medicine
epilepsy surgery
neuromodulation

Published Papers (4 papers)

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Research

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Open AccessArticle

Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital

Rana Abdullah Alsheikh

Amal Kentab

Najd AlTheeb

and

Malak Alghamdi

Children 2023, 10(8), 1334; https://doi.org/10.3390/children10081334 - 01 Aug 2023

Viewed by 697

Abstract

Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotypic presentations. Methods: A retrospective chart review was conducted among children presented with epilepsy in one center in Saudi Arabia between 2015 and 2018. Only those who had undergone genetic testing were included. Results: A total of 45 patients had positive whole-exome sequencing (WES) genetic testing with 37 mutations. Six mutations (SCN1A, DENND5A, KCNQ2, ACY1, SCN2A, and PCDH19) were repeated in 15 patients, with largely heterogeneous phenotypic presentations in patients with the same mutation. Several mutations are reported for the first time in Saudi Arabia. The median age at epilepsy onset was four months. Consanguineous parents and family history of epilepsy were frequent (31.8% and 33.3%, respectively). Developmental delay (44.4%), cognitive delay (42.2%), language delay (40.0%), behavioral features (28.9%), and microcephaly (20.0%) were frequent presentations. At initial diagnosis, 68.9% of EEG and 48.9% of brain MRI were abnormal. The most currently used antiseizure medications (ASMs) were levetiracetam (48.9%), topiramate (28.9%), and valproic acid (20.0%). Approximately 60% of the patients were controlled with (47.6%) or without (11.9%) ASMs, and three (7.1%) patients died. Conclusions: Multiple mutations among children with epilepsy are reported in one hospital in Saudi Arabia, with the majority reported for the first time. The current findings highlight the importance of doing genetic testing for the evaluation of childhood epilepsy. Full article

(This article belongs to the Special Issue Diagnosis and Treatment in Childhood Epilepsy)

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Review

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Open AccessReview

Use of Integrative, Complementary, and Alternative Medicine in Children with Epilepsy: A Global Scoping Review

Angelina Kakooza-Mwesige

and

Children 2023, 10(4), 713; https://doi.org/10.3390/children10040713 - 12 Apr 2023

Viewed by 1708

Abstract

(1) Background: Epilepsy is one of the most common chronic neurological disorders in childhood. Complementary and alternative medicine (CAM) use is highly prevalent in patients with epilepsy. Despite CAM’s widespread and increasing popularity, its prevalence, forms, perceived benefits, and potential risks in pediatric epilepsy are rarely explored. (2) Methods: We performed a scoping review of the available literature on the use of CAM in pediatric epilepsy. (3) Results: Overall, global cross-sectional studies showed a variable degree of CAM usage among children with epilepsy, ranging from 13 to 44% in prevalence. Popular types of CAMs reported were supplements, cannabis products, aromatherapy, herbal remedies, dietary therapy, massage therapy, and prayer. Families often report that CAM is effective, although there are limited objective measures of this. Potential risks lie in the use of CAM, such as herbal remedies, and/or unregulated, contaminated, or unpurified products. Studies also underscored inadequate patient–physician discussions regarding CAM. (4) Conclusions: A better understanding of this topic would aid clinicians in guiding patients/families on the use of CAM. Further studies on the efficacy of the different types of CAM used, as well as potential side effects and drug interactions are needed. Full article

(This article belongs to the Special Issue Diagnosis and Treatment in Childhood Epilepsy)

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Open AccessReview

Fenfluramine: A Review of Pharmacology, Clinical Efficacy, and Safety in Epilepsy

Debopam Samanta

Children 2022, 9(8), 1159; https://doi.org/10.3390/children9081159 - 02 Aug 2022

Cited by 6 | Viewed by 1973

Abstract

Despite the availability of more than 30 antiseizure medications (ASMs), the proportion of patients who remain refractory to ASMs remains static. Refractory seizures are almost universal in patients with epileptic encephalopathies. Since many of these patients are not candidates for curative surgery, there is always a need for newer ASMs with better efficacy and safety profile. Recently, the anti-obesity medication fenfluramine (FFA) has been successfully repurposed, and various regulatory agencies approved it for seizures associated with Dravet and Lennox–Gastaut syndromes. However, there is a limited in-depth critical review of FFA to facilitate its optimal use in a clinical context. This narrative review discusses and summarizes the antiseizure mechanism of action of FFA, clinical pharmacology, and clinical studies related to epilepsy, focusing on efficacy and adverse effects. Full article

(This article belongs to the Special Issue Diagnosis and Treatment in Childhood Epilepsy)

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Other

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Open AccessBrief Report

Effect of Vagus Nerve Stimulation on Blood Inflammatory Markers in Children with Drug-Resistant Epilepsy: A Pilot Study

Valentina Baro

Maria Vittoria Bonavina

and

Children 2022, 9(8), 1133; https://doi.org/10.3390/children9081133 - 29 Jul 2022

Cited by 1 | Viewed by 1145

Abstract

Background: Since one of the suggested mechanisms of action of VNS on epilepsy is the reduction of central inflammation, we carried out a comprehensive analysis of blood inflammatory markers in children considered for VNS surgery. Materials and methods: Five pediatric patients were studied. An extensive analysis of blood inflammatory markers was performed before surgery (T0) and six weeks after VNS implantation (T1). An epileptological outcome was obtained according to the McHugh score. Results: The variations of IgA, IgE, IgG, CD19, and PTX3 displayed a tendency toward a positive statistical correlation between T0 and T1. According to McHugh score, the patients were divided into Group 1 (i.e., Class I) and Group 2 (i.e., Classes II and III). IL-1β and PTX-3 tended to decrease more in Group 1, while TNF-α decreased in Group 2 (−56.65%) and slightly increased (+3.61%) in Group 1 at T1 without statistical correlation. Conclusions: The variation of IL-1β and PTX-3 seem to be related to a better outcome; thus, they do not reach statistical significance. A larger series of patients is needed to determine whether biochemical changes could relay with the clinical improvement of epilepsy. Full article

(This article belongs to the Special Issue Diagnosis and Treatment in Childhood Epilepsy)

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Special Issue "Diagnosis and Treatment in Childhood Epilepsy"

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