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Pediatric Neurology: Current Trends, Rehabilitation and Future Challenges
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Pediatric Neurology: Current Trends, Rehabilitation and Future Challenges

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Clinical Medicine, Cell, and Organism Physiology".

Deadline for manuscript submissions: closed (10 October 2023) | Viewed by 12212

Special Issue Editor

Dr. Domenico Romeo

E-Mail Website
Guest Editor
Pediatric Neurology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
Interests: pediatric neurology; rehabilitation; cerebral palsy; neurodevelopmental assessments
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the last 20 years, the advent of neurophysiological, neuromotor and neuroimaging techniques has provided evidence of the complexity of the developing brain. Recent studies on low- and high-risk infants have described the maturation of specific aspects of function and their correlation with the neuroimaging.

Parallel to the early detection efforts, the improved understanding of neurodevelopment is leading to an increased availability of early treatment and rehabilitation programmes.

The aims of this Special Issue is to collect the most recent evidence of assessments and interventions for pediatric patients with or at risk of neurological impairment. The manuscripts may include any format (original article, systematic review, state-of-the-art review) that may contribute to this issue. This includes, but is not limited to, manuscripts on neuroimaging, neurophysiology, and neuromotor or behavioral assessments for the detection, prediction, or classification of neuropediatric disorders. Equally important will be the inclusion of reports or protocols about interventions and rehabilitation programme in the field of pediatric neurology.

Dr. Domenico Romeo
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 Personalized Medicine 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 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

  • pediatric neurology
  • rehabilitation
  • cerebral palsy
  • developmental disorders

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Related Special Issue

Published Papers (6 papers)

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Editorial

Jump to: Research, Review, Other

2 pages, 151 KiB  
Editorial
Paediatric Neurology: Current Trends, Rehabilitation, and Future Challenges
by Domenico M. Romeo and Claudia Brogna
J. Pers. Med. 2024, 14(1), 77; https://doi.org/10.3390/jpm14010077 - 9 Jan 2024
Cited by 1 | Viewed by 1713
Abstract
Over the past 20 years, the introduction of new neurodevelopmental assessments and neurophysiological techniques has improved the knowledge of the complexity of the central nervous system in the first period of development [...] Full article
(This article belongs to the Special Issue Pediatric Neurology: Current Trends, Rehabilitation and Future Challenges)

Research

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15 pages, 1393 KiB  
Article
Five-to-Fifteen—Parental Perception of Developmental Profile from Age 5 to 8 Years in Children Born Very Preterm
by Eeva Mäkilä, Mikael O. Ekblad, Päivi Rautava, Helena Lapinleimu and Sirkku Setänen
J. Pers. Med. 2023, 13(5), 819; https://doi.org/10.3390/jpm13050819 - 12 May 2023
Cited by 1 | Viewed by 1461
Abstract
Children born very preterm have increased risk of developmental difficulties. We examined the parental perception of developmental profile of children born very preterm at 5 and 8 years by using the parental questionnaire Five-to-Fifteen (FTF) compared to full-term controls. We also studied the [...] Read more.
Children born very preterm have increased risk of developmental difficulties. We examined the parental perception of developmental profile of children born very preterm at 5 and 8 years by using the parental questionnaire Five-to-Fifteen (FTF) compared to full-term controls. We also studied the correlation between these age points. The study included 168 and 164 children born very preterm (gestational age < 32 weeks and/or birth weight ≤ 1500 g) and 151 and 131 full-term controls. The rate ratios (RR) were adjusted for sex and the father’s educational level. At 5 and 8 years, children born very preterm were more likely to have higher scores (more difficulties) compared to controls in motor skills (RR = 2.3, CI 95% = 1.8–3.0 at 5 years and RR = 2.2, CI 95% = 1.7–2.9 at 8 years), executive function (1.7, 1.3–2.2 and 1.5, 1.2–2.0), perception (1.9, 1.4–2.5 and 1.9, 1.5–2.5), language (1.5, 1.1–1.9 and 2.2, 1.7–2.9), and social skills (1.4, 1.1–1.8 and 2.1, 1.6–2.7), and at 8 years in learning (1.9, 1.4–2.6) and memory (1.5, 1.2–2.0). There were moderate-to-strong correlations (r = 0.56–0.76, p < 0.001) in all domains between 5 and 8 years in children born very preterm. Our findings suggest that FTF might help to earlier identify children at the greatest risk of incurring developmental difficulties persisting to school-age. Full article
(This article belongs to the Special Issue Pediatric Neurology: Current Trends, Rehabilitation and Future Challenges)
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Review

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20 pages, 332 KiB  
Review
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature
by Domenico Umberto De Rose, Sara Ronci, Stefano Caoci, Chiara Maddaloni, Daria Diodato, Michela Catteruccia, Fabiana Fattori, Luca Bosco, Stefano Pro, Immacolata Savarese, Iliana Bersani, Franco Randi, Marilena Trozzi, Duino Meucci, Flaminia Calzolari, Guglielmo Salvatori, Agostina Solinas, Andrea Dotta and Francesca Campi
J. Pers. Med. 2023, 13(5), 798; https://doi.org/10.3390/jpm13050798 - 6 May 2023
Cited by 1 | Viewed by 1869
Abstract
Herein, we present a newborn female with congenital vocal cord paralysis who required a tracheostomy in the neonatal period. She also presented with feeding difficulties. She was later diagnosed with a clinical picture of congenital myasthenia, associated with three variants of the MUSK [...] Read more.
Herein, we present a newborn female with congenital vocal cord paralysis who required a tracheostomy in the neonatal period. She also presented with feeding difficulties. She was later diagnosed with a clinical picture of congenital myasthenia, associated with three variants of the MUSK gene: the 27-month follow-up was described. In particular, the c.565C>T variant is novel and has never been described in the literature; it causes the insertion of a premature stop codon (p.Arg189Ter) likely leading to a consequent formation of a truncated nonfunctioning protein. We also systematically collected and summarized information on patients’ characteristics of previous cases of congenital myasthenia with neonatal onset reported in the literature to date, and we compared them to our case. The literature reported 155 neonatal cases before our case, from 1980 to March 2022. Of 156 neonates with CMS, nine (5.8%) had vocal cord paralysis, whereas 111 (71.2%) had feeding difficulties. Ocular features were evident in 99 infants (63.5%), whereas facial-bulbar symptoms were found in 115 infants (73.7%). In one hundred sixteen infants (74.4%), limbs were involved. Respiratory problems were displayed by 97 infants (62.2%). The combination of congenital stridor, particularly in the presence of an apparently idiopathic bilateral vocal cord paralysis, and poor coordination between sucking and swallowing may indicate an underlying congenital myasthenic syndrome (CMS). Therefore, we suggest testing infants with vocal cord paralysis and feeding difficulties for MUSK and related genes to avoid a late diagnosis of CMS and improve outcomes. Full article
(This article belongs to the Special Issue Pediatric Neurology: Current Trends, Rehabilitation and Future Challenges)
18 pages, 476 KiB  
Review
The Use of the 6MWT for Rehabilitation in Children with Cerebral Palsy: A Narrative Review
by Domenico M. Romeo, Ilaria Venezia, Margherita De Biase, Francesca Sini, Chiara Velli, Eugenio Mercuri and Claudia Brogna
J. Pers. Med. 2023, 13(1), 28; https://doi.org/10.3390/jpm13010028 - 23 Dec 2022
Cited by 2 | Viewed by 2285
Abstract
Assessing and improving walking abilities is considered one of the most important functional goals of physical therapy in children with cerebral palsy. However, there is still a gap in knowledge regarding the efficacy of treatment targeting the walking capacity of children with CP, [...] Read more.
Assessing and improving walking abilities is considered one of the most important functional goals of physical therapy in children with cerebral palsy. However, there is still a gap in knowledge regarding the efficacy of treatment targeting the walking capacity of children with CP, as well as their responsiveness to the treatment. The 6 min walk test (6MWT) is a reliable tool to measure this function in children with CP, although less has been known about its potential efficacy to assess changes in the walking abilities associated with interventions. The aim of the present narrative review is to increase the amount of knowledge regarding the use of the 6MWT as a reliable measure to evaluate the effect of interventions on walking capacity in children with CP. Full article
(This article belongs to the Special Issue Pediatric Neurology: Current Trends, Rehabilitation and Future Challenges)
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Other

15 pages, 11873 KiB  
Technical Note
Integrating Neuromonitoring in Pediatric Emergency Medicine: Exploring Two Options for Point-of-Care Electroencephalogram (pocEEG) via Patient Monitors—A Technical Note
by Leopold Simma, Fabrizio Romano, Steffen Schmidt, Georgia Ramantani and Bigna K. Bölsterli
J. Pers. Med. 2023, 13(9), 1411; https://doi.org/10.3390/jpm13091411 - 20 Sep 2023
Cited by 1 | Viewed by 1677
Abstract
Central nervous system (CNS) disorders are among the most frequent presentations in critically ill children. Status epilepticus (SE) is a frequent scenario in the resuscitation bay. In patients with altered mental status, non-convulsive SE (NCSE) is often underrecognized and critically impacts the neurological [...] Read more.
Central nervous system (CNS) disorders are among the most frequent presentations in critically ill children. Status epilepticus (SE) is a frequent scenario in the resuscitation bay. In patients with altered mental status, non-convulsive SE (NCSE) is often underrecognized and critically impacts the neurological outcome and duration of hospitalization. An electroencephalogram (EEG) is required to diagnose NCSE. However, standard EEG recordings are time- and staff-intensive, and their availability is limited, especially outside regular working hours. We aimed to improve patient care by developing a simplified EEG recording method, using a reduced lead montage (point-of-care EEG—pocEEG), that is suitable for use in pediatric emergency departments. The objective was to devise a cost-effective unit with low space requirements that fitted the existing technical infrastructure. We present two technical options for clinical pocEEG acquisition using patient monitors (GE Carescape, Philips IntelliVue) that enable data collection for educational and research purposes. A simplified, rapid response EEG like the pocEEG enables neuromonitoring of patients with CNS disorders in pediatric emergency settings, facilitating timely diagnosis and treatment initiation when standard EEG is not readily available. Full article
(This article belongs to the Special Issue Pediatric Neurology: Current Trends, Rehabilitation and Future Challenges)
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15 pages, 22205 KiB  
Case Report
Preserving Ambulation in a Gene Therapy-Treated Girl Affected by Metachromatic Leukodystrophy: A Case Report
by Silvia Faccioli, Silvia Sassi, Daniela Pandarese, Corrado Borghi, Valentina Montemaggiori, Marina Sarzana, Stefano Scarparo, Carla Butera, Valeria Calbi, Alessandro Aiuti and Francesca Fumagalli
J. Pers. Med. 2023, 13(4), 637; https://doi.org/10.3390/jpm13040637 - 6 Apr 2023
Cited by 2 | Viewed by 1992
Abstract
(1) Background: Atidarsagene autotemcel is a hematopoietic stem and progenitor cell gene therapy (HSPC-GT) approved to treat early-onset metachromatic leukodystrophy (MLD). The purpose of this case report is to describe the long-term management of residual gait impairment of a child with late infantile [...] Read more.
(1) Background: Atidarsagene autotemcel is a hematopoietic stem and progenitor cell gene therapy (HSPC-GT) approved to treat early-onset metachromatic leukodystrophy (MLD). The purpose of this case report is to describe the long-term management of residual gait impairment of a child with late infantile MLD treated with HSPC-GT. (2) Methods: Assessment included Gross Motor Function Measure-88, nerve conduction study, body mass index (BMI), Modified Tardieu Scale, passive range of motion, modified Medical Research Council scale, and gait analysis. Interventions included orthoses, a walker, orthopedic surgery, physiotherapy, and botulinum. (3) Results: Orthoses and a walker were fundamental to maintaining ambulation. Orthopedic surgery positively influenced gait by reducing equinovarus. Nonetheless, unilateral recurrence of varo-supination was observed, attributable to spasticity and muscle imbalance. Botulinum improved foot alignment but induced transient overall weakness. A significant increase in BMI occurred. Finally, a shift to bilateral valgopronation was observed, more easily managed with orthoses. (4) Conclusions: HSPC-GT preserved survival and locomotor abilities. Rehabilitation was then considered fundamental as a complementary treatment. Muscle imbalance and increased BMI contributed to gait deterioration in the growing phase. Caution is recommended when considering botulinum in similar subjects, as the risk of inducing overall weakness can outweigh the benefits of spasticity reduction. Full article
(This article belongs to the Special Issue Pediatric Neurology: Current Trends, Rehabilitation and Future Challenges)
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