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Children
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Diagnosis, Treatment and Intervention in Childhood Epilepsy and Neurodevelopmental Disorders
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Diagnosis, Treatment and Intervention in Childhood Epilepsy and Neurodevelopmental Disorders

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

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 3494

Special Issue Editor

Prof. Dr. Justyna Paprocka

E-Mail Website
Guest Editor
Department of Pediatric Neurology, Faculty of Medical Sciences, Medical University of Silesia, 40-752 Katowice, Poland
Interests: epilepsy; neurometabolic disorders; neurodevelopmenta
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASD), learning disabilities, intellectual disability (ID), conduct disorders, cerebral palsy, and impairments in vision and hearing. Children with neurodevelopmental disorders can experience difficulties with language and speech, motor skills, behavior, memory, learning, or other neurological functions. Diagnosis and treatment of these disorders can be difficult; treatment often involves a combination of professional therapy, pharmaceuticals, and home- and school-based programs. Most neurodevelopmental disorders have complex and multiple etiology and are likely to result from a combination of genetic, biological, psychosocial, and environmental risk factors. Diagnosis of certain neurodevelopmental disorders such as ADHD and autism has been increasing over the last few decades.

On the other hand, based on meta-analyses, autism and epilepsy may co-occur in 30% of patients. In children with ASD and ID, the risk for developing epilepsy is as high as 20%, while without ID, it is around 8%.

One of the comorbidities of epilepsy, especially refractory ones, may be ASD.

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

Dr. Justyna Paprocka
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

  • neurodevelopmental disorders
  • epilepsy
  • ASD
  • ADHD

Published Papers (2 papers)

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Research

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13 pages, 517 KiB  
Article
Impact of Neonatal Body (Dis)Proportionality Determined by the Cephalization Index (CI) on Gross Motor Development in Children with Down Syndrome: A Prospective Cohort Study
by Asija Rota Čeprnja, Shelly Melissa Pranić, Martina Šunj, Tonći Kozina, Joško Božić and Slavica Kozina
Children 2023, 10(1), 13; https://doi.org/10.3390/children10010013 - 21 Dec 2022
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Abstract
Background: Children with Down syndrome (DS) lag behind typical children in the acquisition of developmental milestones, which could differ depending on body proportionality. We aimed to determine the difference in the acquisition of developmental milestones in children with DS with a disproportionate cephalization [...] Read more.
Background: Children with Down syndrome (DS) lag behind typical children in the acquisition of developmental milestones, which could differ depending on body proportionality. We aimed to determine the difference in the acquisition of developmental milestones in children with DS with a disproportionate cephalization index (CI) compared to a proportionate CI. We created a motor development model that predicted milestone acquisition times. Methods: In this 20-year prospective cohort study, 47 children with DS aged 3 months to 5 years, followed up to 2020, were grouped according to the ratio of head circumference to birth weight (HC/BW) or CI into proportionate (CI < 1.1) and disproportionate (CI ≥ 1.1). We used a modified Munich Functional Developmental Diagnostic Scale that was assessed for reliability and content validity (Levene’s test and discriminant analysis) to determine 28 motor milestones. Linear regression was used to predict time to milestone acquisition, controlling for sex, maternal age, and birth weight. Results: Compared to proportionate CI, children with disproportionate CI were delayed in the milestone acquisition of a prone position by 2.81 months, standing before walking by 1.29 months, and a supine position by 1.61 months. Both groups required more time to reach standing after the acquisition of independent walking, but children with disproportionate CI reached those milestones later (4.50 vs. 4.09 months, p < 0.001). Conclusion: Children with disproportionate CI acquired milestones in a predictable order but slower than those with a proportionate CI. Our findings support the need to classify the degree of motor developmental delay in children with DS into unique functional groups rather than rely on clinicians’ arbitrary descriptions of the timing of developmental delays in children with DS. Full article
(This article belongs to the Special Issue Diagnosis, Treatment and Intervention in Childhood Epilepsy and Neurodevelopmental Disorders)
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8 pages, 1048 KiB  
Case Report
Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature
by Xiaodi Han, Jie Deng, Chunhong Chen, Xiaohui Wang, Fang Fang, Hua Li, Jie Luo and Jie Wu
Children 2022, 9(12), 1967; https://doi.org/10.3390/children9121967 - 15 Dec 2022
Cited by 1 | Viewed by 1531
Abstract
Previous studies have suggested that the ACTL6B monoallelic variant is responsible for an autosomal dominant inherited intellectual developmental disorder with severe speech and ambulation deficits. The clinical phenotype of developmental and epileptic encephalopathy type 76 (DEE76) due to ACTL6B biallelic variants was first [...] Read more.
Previous studies have suggested that the ACTL6B monoallelic variant is responsible for an autosomal dominant inherited intellectual developmental disorder with severe speech and ambulation deficits. The clinical phenotype of developmental and epileptic encephalopathy type 76 (DEE76) due to ACTL6B biallelic variants was first reported in 2019, with an autosomal recessive mode of inheritance. In this paper, we report on a child in China with DEE76 caused by a compound heterozygous variant of the ACTL6B gene, and we review the literature on ACTL6B gene variants causing DEE76 with complete clinical information. Including our case 1, the genotype and phenotypic characteristics of 18 children from 14 families are summarized. All 18 cases are autosomal recessive, including 12 with homozygous variants and six with compound heterozygous variants. A total of 17 variants have been reported so far, including 14 variants of the loss function. We summarize the clinical features using Human Phenotype Ontology (HPO) terms. We find that DEE76, caused by the ACTL6B biallelic variant, is an early-onset drug-refractory epilepsy with global developmental delayHP:0001263, hypertoniaHP:0001276, and microcephalyHP:0000252, and imaging is characterized by brain delayed myelinationHP:0012448. Our case of DEE76 had not been reported when the patient underwent genetic testing in 2018, and the diagnosis was clarified by the reanalysis of the data 2 years later, being the first reported Chinese patient and the only one in which the application of a ketogenic diet for antiepileptic treatment may have been effective. Full article
(This article belongs to the Special Issue Diagnosis, Treatment and Intervention in Childhood Epilepsy and Neurodevelopmental Disorders)
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