Special Issue "Epilepsy and Comorbidities in Children: Pathogenesis, Diagnosis and Therapies"

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 30 June 2021.

Special Issue Editors

Prof. Dr. Giangennaro Coppola
E-Mail Website
Guest Editor
Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, Salerno, Italy
Interests: pediatric epilepsy; neurodevelopmental disorders; autism; ketogenic diet
Special Issues and Collections in MDPI journals
Dr. Francesca Felicia Operto
E-Mail Website
Guest Editor
Child and Adolescent Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano SA, Italy
Interests: pediatric epilepsy; neurodevelopmental disorders; autism; ketogenic diet
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is a collection of selected papers from “Epilepsy and Comorbidities”, which is tentatively scheduled for 18 September 2020 in Salerno, Italy. Given the pandemic situation, other scholars in related fields without the condition of attending this conference are also welcomed to contribute to this Special Issue.

The neuropsychiatric comorbidities frequently associated with pediatric epilepsies can complicate the basic clinical picture, and at times, constitute a real therapeutic challenge. In terms of comorbidities, it must first be remembered that the associated disorders may occur more or less early in conjunction with epilepsy, may pre-exist with respect to the onset of epilepsy, or even represent disorders that persist beyond the resolution of epilepsy.

The causes can be related to multiple factors including the basic condition, the type of epilepsy or epileptic syndrome, the frequency of seizures and/or EEG anomalies, the effect and the number and type of the antiseizure medications, up to the relational and environmental features related to the epileptic disorder. Neurological and psychiatric/neuropsychological comorbidities can therefore aggravate and complicate the child's epileptic disorder themselves. The topic is always intriguing and may stir interest in the reader; it is for this reason that the aim of this Special Issue is to shed light on pathological mechanisms, novel therapeutic approaches, and diagnosis in an updated and current way, with a particular focus on the issues related to comorbidities such as ADHD disorder, mood disorders (anxiety and depression), psychotic disorders, psychogenic nonepileptic seizures, cognitive function and learning disorders and the role of school, behavior disorders such as oppositional-defiant disorder, conduct disorders, disruptive behavior and other behavioral problems, autism spectrum disorders, parental stress and quality of life, the quality of sleep in the epileptic child, the migraine in the epileptic child, music therapy and epilepsy, ketogenic diet, and new hypotheses related to the basic mechanisms of action.

The individual topics should also consider the neurobiological aspects and the possible molecular links underlying the epileptic disorder and their respective comorbidities, without neglecting the therapeutic implications. Original papers and reviews will be accepted.

This special issue is focused more on clinical research or diagnostics. Papers focus on molecular research may choose our joint special issue in IJMS (ISSN 1422-0067, IF 4.556).

Prof. Dr. Giangennaro Coppola 
Dr. Francesca Felicia Operto
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 papers will be 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. Diagnostics 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 1600 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

  • comorbidity
  • epilepsy
  • children and adolescents
  • neuropsychiatry
  • molecular mechanisms

Published Papers (2 papers)

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Research

Article
Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy
Diagnostics 2021, 11(6), 948; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11060948 - 25 May 2021
Viewed by 477
Abstract
Background: The advent of next-generation sequencing (NGS) techniques in clinical practice led to a significant advance in gene discovery. We aimed to describe diagnostic yields of a “dynamic” exome-based approach in a cohort of patients with epilepsy associated with neurodevelopmental disorders. Methods: We [...] Read more.
Background: The advent of next-generation sequencing (NGS) techniques in clinical practice led to a significant advance in gene discovery. We aimed to describe diagnostic yields of a “dynamic” exome-based approach in a cohort of patients with epilepsy associated with neurodevelopmental disorders. Methods: We conducted a retrospective, observational study on 72 probands. All patients underwent a first diagnostic level of a 135 gene panel, a second of 297 genes for inconclusive cases, and finally, a whole-exome sequencing for negative cases. Diagnostic yields at each step and cost-effectiveness were the objects of statistical analysis. Results: Overall diagnostic yield in our cohort was 37.5%: 29% of diagnoses derived from the first step analysis, 5.5% from the second step, and 3% from the third. A significant difference emerged between the three diagnostic steps (p < 0.01), between the first and second (p = 0.001), and the first and third (p << 0.001). The cost-effectiveness plane indicated that our exome-based “dynamic” approach was better in terms of cost savings and higher diagnostic rate. Conclusions: Our findings suggested that “dynamic” NGS techniques applied to well-phenotyped individuals can save both time and resources. In patients with unexplained epilepsy comorbid with NDDs, our approach might maximize the number of diagnoses achieved. Full article
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Article
Childhood Epilepsy with Centrotemporal Spikes: Clinical and Neuropsychological Outcomes 5 Years after Remission
Diagnostics 2020, 10(11), 931; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics10110931 - 10 Nov 2020
Cited by 1 | Viewed by 567
Abstract
Although specific neuropsychological deficits have been recognized during the active phase of epilepsy with centrotemporal spikes (ECTS), the natural cognitive and neuropsychological history after remission has not been elucidated so far. We evaluated the natural cognitive and neuropsychological outcomes five years after disease [...] Read more.
Although specific neuropsychological deficits have been recognized during the active phase of epilepsy with centrotemporal spikes (ECTS), the natural cognitive and neuropsychological history after remission has not been elucidated so far. We evaluated the natural cognitive and neuropsychological outcomes five years after disease remission and investigated possible predictors of long-term outcome among socio-demographic and electro-clinical variables. We performed an observational cross-sectional study. Electro-clinical characteristics during the active phase of epilepsy, as well as antiepileptic treatment and premorbid neurodevelopmental concerns were reviewed for 70 patients. At least five years after epilepsy remission, all patients were contacted, and 46 completed a structured questionnaire about patients’ current education and academic skills, general health, and parents’ socio-economic status. Among them, 23 patients underwent an ad hoc cognitive and neuropsychological protocol and emotional-behavioral assessment. Chi-square tests and t-tests were carried out to define the role of putative predictors of neuropsychological outcomes. Mean cognitive and neuropsychological performances appeared to be overall adequate, except for the dictation. Positive family history for epilepsy (p = 0.01769) and familial socioeconomic status (mother’s schooling (p = 0.04169), father’s schooling (p = 0.01939), mother’s income (p = 0.0262), father’s income (p = 0.01331)) were identified as predictors of outcomes. Our data suggest that ECTS with typical electro-clinical features depicts an overall preserved cognitive and neuropsychological long-term outcome. We suggest particular attention should be paid to patients with socio-economic disadvantage and familial history of epilepsy, as they may experience worse neurocognitive post-morbid performances. Full article
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