JPM 14 00077 v2

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Journal of

Personalized
Medicine

Editorial
Paediatric Neurology: Current Trends, Rehabilitation, and
Future Challenges
Domenico M. Romeo 1,2, * and Claudia Brogna 1,2

1 Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy;
[email protected]
2 Pediatric Neurology Unit, Universittà Cattolica Del Sacro Cuore, 00168 Rome, Italy
* Correspondence: [email protected]; Tel.: +39-0630156307; Fax: +39-0630154363

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. More recently, different studies
in infants at risk of neurodevelopmental impairments reported on novel data about the
maturation of specific features of its function and their relationship with neurological tools,
helping clinicians in early treatment and rehabilitation programmes.
Children with cerebral palsy, neuromuscular and metabolic disorders, epilepsy, and
preterm children represent the main patients in paediatric neurology in terms of frequency,
as well as social and economic impact. This Special Issue, containing five articles, focuses
on the current evidence of evaluation tools, new technologies, and intervention approaches
for paediatric patients with these neurological impairments.
Clinical and electrophysiological evaluations represent the first level of assessment in
paediatric neurology. Preterm infants (mainly those born at a gestational age < 32 weeks)
report lower scores on neurodevelopmental tests and are at greatest risk of developmental
problems compared to those born at term. In the paper published by Makila et al. [1], the
parental questionnaire Five-to-Fifteen (FTF) was used to explore the parental perception
of the developmental profile of children born very preterm from ages 5 to 8 years; very
preterm children showed lower scores than peers born at term in most of the tasks explored,
especially in gross motor skills, executive function, and language. The FTF should be used
as screening tool to early identify preterm children at risk of neurodevelopmental problems
and who should be actively referred to a rehabilitation programme. Along the same line
Citation: Romeo, D.M.; Brogna, C.
of evidence, the review of Romeo et al. [2] explored another clinical instrument, the 6 min
Paediatric Neurology: Current Trends,
walk test (6MWT), as a reliable tool to assess the effect of treatment on the walking ability in
Rehabilitation, and Future Challenges.
children with cerebral palsy (CP). The 6MWT was considered to be an effective instrument
J. Pers. Med. 2024, 14, 77. https://
to assess the changes in walking abilities in children with different types of CP from 5 years
doi.org/10.3390/jpm14010077
old onwards. The authors concluded that the systematic use of the 6MWT should be
Received: 4 January 2024 proposed in clinical and research settings to promote rehabilitation activities that could
Accepted: 7 January 2024 maintain or improve walking and/or gross motor function.
Published: 9 January 2024 Epilepsy is considered one of the most recurrent paediatric neurological conditions.
The use of an electroencephalogram (EEG) represents an essential instrument for diag-
nostic information, helping clinicians to make a decision in terms of pharmacological
treatment, especially in children with non-convulsive status epilepticus (NCSE). How-
Copyright: © 2024 by the authors.
ever, standard EEG recordings are time- and staff-consuming, and their accessibility is
Licensee MDPI, Basel, Switzerland.
restricted, especially outside regular working hours. In their technical note, Simma et al. [3]
This article is an open access article
distributed under the terms and
reported on the application of a simplified EEG recording technique, using a reduced lead
conditions of the Creative Commons
montage (point-of-care EEG—pocEEG), for identifying NCSE and managing its treatment.
Attribution (CC BY) license (https:// This new instrument allows neuromonitoring of paediatric patients with neurological
creativecommons.org/licenses/by/ conditions, simplifying opportune diagnosis and treatments when a standard EEG is not
4.0/). readily accessible.

J. Pers. Med. 2024, 14, 77. https://doi.org/10.3390/jpm14010077 https://www.mdpi.com/journal/jpm


J. Pers. Med. 2024, 14, 77 2 of 2

Neuromuscular and neurometabolic disorders are important group of diseases, mostly


presenting in newborns and infants, due to defects or mutations in a single gene. Most
of them respond favourably to treatment, especially when started at the beginning of the
symptoms. Therefore, early detection and early intervention are considered invaluable
in these patients. A contribution to this research topic was reported in two case reports
by De rose et al. [4] and Faccioli et al. [5]. In the first one, the authors pointed out the
importance of specific early clinical signs, such as bilateral vocal cord paralysis (requiring
a tracheostomy) and feeding problems that could be the early diagnostic indications of a
congenital myasthenic syndrome (CMS) with onset during the neonatal period due to a
mutation in the MUSK gene. These newborns should be referred to III-level centres for
neurophysiology and genetic assessments as soon as possible, to avoid a late diagnosis
of CMS and improve outcomes. Faccioli et al. [5] described the long-term (5 years) man-
agement of the residual walking impairment of a child with late infantile metachromatic
leukodystrophy treated with hematopoietic stem cell gene therapy. This therapy in ad-
dition to a specific rehabilitation programme, including orthoses, a walker, orthopaedic
surgery, physiotherapy, and botulinum toxin preserved survival and locomotor abilities.
This multidisciplinary approach is required to preserve long-term gait competence, re-
duce the incidence of deformities and pain, and guarantee independence in daily life in
these patients.
In conclusion, the present scientific studies give us evidence on the progress in Paedi-
atric Neurology and its future challenges. The papers gather contributions from diverse
experts in the field of neonatal and paediatric neurology and address specific problems,
such as novel diagnostic and screening tools and rehabilitation approaches, adding new
understandings and views in the treatment of these disorders. We hope that the information
collected from this Special Issue will promote and offer suggestions for future research in
this field to better prevent and treat neurological disorders.

Funding: This research received no external funding.


Conflicts of Interest: The authors declare no conflict of interest.

References
1. Makila, E.; Ekblad, M.O.; Rautava, P.; Lapinleimu, H.; Setänen, S. Five-to-Fifteen—Parental Perception of Developmental Profile
from Age 5 to 8 Years in Children Born Very Preterm. J. Pers. Med. 2023, 13, 819. [CrossRef] [PubMed]
2. Romeo, D.M.; Venezia, I.; De Biase, M.; Sini, F.; Velli, C.; Mercuri, E.; Brogna, C. The Use of the 6MWT for Rehabilitation in
Children with Cerebral Palsy: A Narrative Review. J. Pers. Med. 2022, 13, 28. [CrossRef] [PubMed]
3. Simma, L.; Romano, F.; Schmidt, S.; Ramantani, G.; Bölsterli, B.K. Integrating Neuromonitoring in Pediatric Emergency Medicine:
Exploring Two Options for Point-of-Care Electroencephalogram (pocEEG) via Patient Monitors—A Technical Note. J. Pers. Med.
2023, 13, 1411. [CrossRef] [PubMed]
4. De Rose, D.U.; Ronci, S.; Caoci, S.; Maddaloni, C.; Diodato, D.; Catteruccia, M.; Fattori, F.; Bosco, L.; Pro, S.; Savarese, I.; et al.
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal
Onset: A Case Report and Review of Literature. J. Pers. Med. 2023, 13, 798. [CrossRef] [PubMed]
5. Faccioli, S.; Sassi, S.; Pandarese, D.; Borghi, C.; Montemaggiori, V.; Sarzana, M.; Scarparo, S.; Butera, C.; Calbi, V.; Aiuti, A.; et al.
Preserving Ambulation in a Gene Therapy-Treated Girl Affected by Metachromatic Leukodystrophy: A Case Report. J. Pers. Med.
2023, 13, 637. [CrossRef] [PubMed]

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