Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.7
3.0
Journals
JCM
Special Issues
New Clinical Insights into Pediatric Neurology
share announcement

New Clinical Insights into Pediatric Neurology

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Pediatrics".

Deadline for manuscript submissions: 31 October 2024 | Viewed by 1081

Special Issue Editor

Prof. Dr. Sergiusz Jozwiak

E-Mail Website1 Website2
Guest Editor
Research Department, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Interests: early childhood epilepsy; tuberous sclerosis; neurocutaneous disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We have seen significant progress in pediatric neurology in recent years. The most remarkable discoveries have been those associated with the developments in genetics. Spinal muscular atrophy is no longer a fatal disease; neonatal screening and early treatment have allowed for normal motor development in this so-far devastating disease. The introduction of new-generation sequencing for rare disorders has resulted in greater diagnostic abilities and the identification of new clinical phenotypes. Pediatric neurology has also achieved a new level of therapeutic potential. After a recent years-long period of stagnation in the development of new antiepileptic drugs, several new molecules have arrived on the market with proven efficacy. More specific treatments with antisense oligonucleotides (ASOs) are becoming a promising therapeutic option in developmental epileptic encephalopathies, neurocutaneous disorders, and rare diseases.

In this Special Issue, we invite authors to submit papers on the clinical advances in different fields of pediatric neurology, in terms of both diagnosis and treatment.

Prof. Dr. Sergiusz Jozwiak
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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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
  • neuromuscular disorders
  • neurocutaneous disorders
  • demyelinating disorders
  • rare diseases
  • neurodegenerative disorders
  • intellectual disability
  • autistic behavior

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

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

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

13 pages, 248 KiB  
Article
Rubinstein–Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning
by Anna Rozensztrauch, Aleksander Basiak and Iwona Twardak
J. Clin. Med. 2024, 13(17), 5210; https://doi.org/10.3390/jcm13175210 - 2 Sep 2024
Viewed by 471
Abstract
Background/Objectives: Rubinstein–Taybi Syndrome (RSTS-OMIM, #180849) is a rare genetic disorder associated with distinctive clinical features, including a typical craniofacial appearance, global developmental delay, intellectual disability and broad, angular thumbs and fingers. The main aim of the study was to evaluate the health [...] Read more.
Background/Objectives: Rubinstein–Taybi Syndrome (RSTS-OMIM, #180849) is a rare genetic disorder associated with distinctive clinical features, including a typical craniofacial appearance, global developmental delay, intellectual disability and broad, angular thumbs and fingers. The main aim of the study was to evaluate the health problems of children with RTST, their quality of life and the impact of the disease on family functioning. In addition, we investigate whether comorbidities, autistic behavior and eating problems affect the children’s overall QOL. Methods: A cross-sectional study was performed, including a total of 13 caregivers of children diagnosed with RSTS. A self-reported questionnaire [SRQ], medical records and the Pediatric Impact Module PedsQLTM 2.0, the Pediatric Quality of Life PedsQLTM 4.0 were used to obtain data on QOL and the impact of the disease on family functioning. Results: The overall QOL score for children with RSTS was x = 52.40; SD 13.01. The highest QOL was in emotional functioning (EF; x = 59.23; SD 18.69), while the lowest QOL was in physical functioning (PF; x = 48.56; SD 16.32) and social functioning (SF; x = 48.85; SD 18.84). There was a statistically significant negative correlation (p < 0.03; r = −2.01) between the age of the child and their QOL, indicating that older children had lower QOL scores. The mean overall rating for the impact of RSTS on family functioning was x = 50.00; SD 10.91. Caregivers reported the highest scores for cognitive functioning (CF; x = 64.23; SD 23.70) and family relationships (FR; x = 60.00; SD 17.17). The lowest scores were for daily activities (DA; x = 41.03; SD 17.17) and worry (W; x = 37.69; SD 18.55). Conclusions: This study provides the first comprehensive exploration of the QOL of children with RSTS) and its impact on family functioning. Full article
(This article belongs to the Special Issue New Clinical Insights into Pediatric Neurology)
22 pages, 4604 KiB  
Article
Overview of Neuro-Ophthalmic Findings in Leukodystrophies
by Charlotte Maria Bettinger, Simon Dulz, Yevgeniya Atiskova, Helena Guerreiro, Gerhard Schön, Philipp Guder, Sarah Lena Maier, Jonas Denecke and Annette E. Bley
J. Clin. Med. 2024, 13(17), 5114; https://doi.org/10.3390/jcm13175114 - 28 Aug 2024
Viewed by 397
Abstract
Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety [...] Read more.
Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety of symptoms. Leukodystrophies are usually progressive, resulting in severe disabilities and premature death. Progressive visual impairment is a common symptom. Currently, no overview of the manifold neuro-ophthalmologic manifestations and visual impact of leukodystrophies exists. Methods: Data from 217 patients in the Hamburg leukodystrophy cohort were analyzed retrospectively for neuro-ophthalmologic manifestations, age of disease onset, and magnetic resonance imaging, visual evoked potential, and optical coherence tomography findings and were compared with data from the literature. Results: In total, 68% of the patients suffered from neuro-ophthalmologic symptoms, such as optic atrophy, visual neglect, strabismus, and nystagmus. Depending on the type of leukodystrophy, neuro-ophthalmologic symptoms occurred early or late during the course of the disease. Magnetic resonance imaging scans revealed pathologic alterations in the visual tract that were temporally correlated with symptoms. Conclusions: The first optical coherence tomography findings in Krabbe disease and metachromatic leukodystrophy allow retinal assessments. Comprehensive literature research supports the results of this first overview of neuro-ophthalmologic findings in leukodystrophies. Full article
(This article belongs to the Special Issue New Clinical Insights into Pediatric Neurology)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop