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Medicina
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New Trends in Neurodevelopmental Disorders
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New Trends in Neurodevelopmental Disorders

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Neurology".

Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 21600

Special Issue Editors

Dr. Marco Carotenuto

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Guest Editor
Dipartimento di Salute Mentale e Fisica e Medicina Preventiva, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy
Interests: pediatric rehabilitation; pediatric sleep disorders; pediatric polysomnography; pediatric headaches; pediatric epilepsy; pediatric EEG; autism
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Michele Roccella

E-Mail Website
Co-Guest Editor
Department of Psychology, Educational Science and Human Movement, University of Palermo, 90128 Palermo, Italy
Interests: neurodevelopmental disorders; encephalopathies; epilepsies; neuromuscular diseases; sleep disorders; rare genetic syndromes; neuropsychological disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

On behalf of the Medicina editorial team, we are delighted to announce the launch of a new Special Issue on the subject of “New Trends in Neurodevelopmental Disorders”, guest-edited by Prof. Dr. Marco Carotenuto from the University of Campania “Luigi Vanvitelli”, Italy and by Prof. Dr. Michele Roccella from the University of Palermo.

Neurodevelopmental disorders have seen an exponential increase in their prevalence and incidence in recent decades, posing new diagnostic and therapeutic problems.

Neurodevelopmental disorders certainly begin in childhood, but given their high impact on all areas of daily life, they cannot be considered as pervasive disorders. The approach to these disorders involves all clinical areas and not only pediatric ones, above all thanks to the increased survival.

These complex disorders require clinicians to have innovative and cutting-edge approaches, both for therapy and diagnostics.

This Special Issue will gather experiences of clinicians from different areas and countries to acquire new perspectives in the vision and therapy of these disorders.

We are pleased to invite you to submit articles reporting on the topic. Reviews or original articles focusing on the biochemical and molecular aspects underlying the pathobiology of neurodevelopmental disorders, as well as articles providing an up-to-date overview of the use of circulating/tissue and/or neurochemical biomarkers in early diagnosis and management, are particularly welcome. We would also like to invite you to submit review articles dealing with epidemiological aspects, prevention strategies targeting newly discovered risk factors, and recent advances in therapeutics with special attention to the individualized approaches, efficacy, and safety profile of currently available therapies, real-world studies included. In particular, studies or reviews concerning therapeutic approaches little addressed by the literature, such as neuropsychomotor therapy or occupational therapy, are also welcome.

Approaches from basic research to these disorders will also be prioritized, given their intrinsic innovative character, as well as proposals for new therapeutic indications, both pharmacological and rehabilitative.

This Special Issue is open for submissions until 30 April 2021. All submitted articles will undergo a rigorous peer-review process, and on acceptance for publication, are ensured rapid publication online and high visibility.

Prof. Marco Carotenuto
Prof. Michele Roccella
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 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. Medicina 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 1800 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

  • Autism
  • Pediatric epilepsy
  • Pediatric headaches
  • Pediatric sleep disorders
  • Pediatric rehab
  • Genetic disorders
  • Behavioral disorders
  • ADHD
  • Eating disorders

Published Papers (7 papers)

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Research

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13 pages, 719 KiB  
Article
Comparing Ictal Cardiac Autonomic Changes in Patients with Frontal Lobe Epilepsy and Temporal Lobe Epilepsy by Ultra-Short-Term Heart Rate Variability Analysis
by Sung-Min You, Hyun-Jin Jo, Baek-Hwan Cho, Joo-Yeon Song, Dong-Yeop Kim, Yoon-Ha Hwang, Young-Min Shon, Dae-Won Seo and In-Young Kim
Medicina 2021, 57(7), 666; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57070666 - 28 Jun 2021
Cited by 6 | Viewed by 2340
Abstract
Background and Objectives: Abnormal epileptic discharges in the brain can affect the central brain regions that regulate autonomic activity and produce cardiac symptoms, either at onset or during propagation of a seizure. These autonomic alterations are related to cardiorespiratory disturbances, such as [...] Read more.
Background and Objectives: Abnormal epileptic discharges in the brain can affect the central brain regions that regulate autonomic activity and produce cardiac symptoms, either at onset or during propagation of a seizure. These autonomic alterations are related to cardiorespiratory disturbances, such as sudden unexpected death in epilepsy. This study aims to investigate the differences in cardiac autonomic function between patients with temporal lobe epilepsy (TLE) and frontal lobe epilepsy (FLE) using ultra-short-term heart rate variability (HRV) analysis around seizures. Materials and Methods: We analyzed electrocardiogram (ECG) data recorded during 309 seizures in 58 patients with epilepsy. Twelve patients with FLE and 46 patients with TLE were included in this study. We extracted the HRV parameters from the ECG signal before, during and after the ictal interval with ultra-short-term HRV analysis. We statistically compared the HRV parameters using an independent t-test in each interval to compare the differences between groups, and repeated measures analysis of variance was used to test the group differences in longitudinal changes in the HRV parameters. We performed the Tukey–Kramer multiple comparisons procedure as the post hoc test. Results: Among the HRV parameters, the mean interval between heartbeats (RRi), normalized low-frequency band power (LF) and LF/HF ratio were statistically different between the interval and epilepsy types in the t-test. Repeated measures ANOVA showed that the mean RRi and RMSSD were significantly different by epilepsy type, and the normalized LF and LF/HF ratio significantly interacted with the epilepsy type and interval. Conclusions: During the pre-ictal interval, TLE patients showed an elevation in sympathetic activity, while the FLE patients showed an apparent increase and decrease in sympathetic activity when entering and ending the ictal period, respectively. The TLE patients showed a maintained elevation of sympathetic and vagal activity in the pos-ictal interval. These differences in autonomic cardiac characteristics between FLE and TLE might be relevant to the ictal symptoms which eventually result in SUDEP. Full article
(This article belongs to the Special Issue New Trends in Neurodevelopmental Disorders)
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12 pages, 307 KiB  
Article
Emotional–Behavioral Disorders in Healthy Siblings of Children with Neurodevelopmental Disorders
by Mariarosaria Caliendo, Valentina Lanzara, Luigi Vetri, Michele Roccella, Rosa Marotta, Marco Carotenuto, Daniela Russo, Francesco Cerroni and Francesco Precenzano
Medicina 2020, 56(10), 491; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56100491 - 23 Sep 2020
Cited by 16 | Viewed by 3560
Abstract
Background and Objectives: Siblings of disabled children are more at risk of developing mental illnesses. More than 50 international studies show that about 8% of children and adolescents suffer from a mental disorder, which is almost always a source of difficulties both at [...] Read more.
Background and Objectives: Siblings of disabled children are more at risk of developing mental illnesses. More than 50 international studies show that about 8% of children and adolescents suffer from a mental disorder, which is almost always a source of difficulties both at the interpersonal level (in the family and with peers) and at school. Healthy siblings of children with disabilities are one of the groups most at risk for consequences in psychological health and well-being. As some authors suggest, siblings build their idea of “being people”, in terms of character and personality, by continuously and daily confronting themselves with the theme of disability and a family context subjected to continuous stress. The following contribution aims to compare emotional–behavioral disorders in healthy siblings of children with autism spectrum disorder, in healthy siblings of children with Down’s syndrome and in healthy siblings of children with typical development. Materials and Methods: The results involve 153 children from the region of Campania and their caregivers through the administration of the Strength and Difficulties Questionnaire. Results: From the data, it emerged that siblings of children with autism spectrum disorder and siblings of children with Down’s syndrome have a greater emotional fragility, especially among male subjects. Conclusions: Our results require us to reflect on the clinical and policy measures needed to ensure the well-being of siblings of disabled children, mainly through appropriate sibling coping training. Full article
(This article belongs to the Special Issue New Trends in Neurodevelopmental Disorders)

Review

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11 pages, 317 KiB  
Review
On the Playing Field to Improve: A Goal for Autism
by Luigi Vetri and Michele Roccella
Medicina 2020, 56(11), 585; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56110585 - 30 Oct 2020
Cited by 4 | Viewed by 3592
Abstract
In recent years, there has been a renewed attention to lifestyle-based interventions in people with autism spectrum disorder. The positive effects of physical exercise programs have been well documented both in healthy people and in people with disabilities in the fields of psychological [...] Read more.
In recent years, there has been a renewed attention to lifestyle-based interventions in people with autism spectrum disorder. The positive effects of physical exercise programs have been well documented both in healthy people and in people with disabilities in the fields of psychological well-being, cognitive outcome and medical health. There is much less evidence about the opportunity to attempt a team-group sport for people with autism. Although researchers seem to suggest an overall positive effect, playing team sports for people with autism spectrum disorder (ASD) means dealing with difficulties in social interactions and limitations in motor functions. This narrative review aims to report studies about the effects, improvements and difficulties that people with autism have to face when they play the world’s most popular team sport: soccer. Full article
(This article belongs to the Special Issue New Trends in Neurodevelopmental Disorders)
13 pages, 490 KiB  
Review
Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications
by Francesco Precenzano, Lucia Parisi, Valentina Lanzara, Luigi Vetri, Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Maria Ruberto, Giovanni Messina, Maria Cristina Risoleo, Claudia Santoro, Ilaria Bitetti and Rosa Marotta
Medicina 2020, 56(9), 419; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56090419 - 19 Aug 2020
Cited by 25 | Viewed by 4161
Abstract
A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy [...] Read more.
A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controversial, and they could represent an epiphenomenon of the neurochemical alterations of autism etiology. This paper provides an overview of the major research findings with two main purposes: to better delineate the state-of-the-art about EEG abnormalities in ASD and to find evidence for or against appropriateness of SEAs pharmacological treatment in ASD. Full article
(This article belongs to the Special Issue New Trends in Neurodevelopmental Disorders)
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Other

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7 pages, 552 KiB  
Case Report
Prader–Willi Syndrome with Angelman Syndrome in the Offspring
by Donatella Greco, Luigi Vetri, Letizia Ragusa, Mirella Vinci, Angelo Gloria, Paola Occhipinti, Angela Antonia Costanzo, Giuseppe Quatrosi, Michele Roccella, Serafino Buono and Corrado Romano
Medicina 2021, 57(5), 460; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57050460 - 08 May 2021
Cited by 4 | Viewed by 2877
Abstract
We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but [...] Read more.
We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1–15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndromes. Our case report reaffirms the possible fertility in PWS; therefore, it is very important to develop appropriate socio-sexual education programs and fertility assessments in order to guarantee the expression of a healthy sexuality. Full article
(This article belongs to the Special Issue New Trends in Neurodevelopmental Disorders)
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7 pages, 270 KiB  
Case Report
Psychogenic Non-Epileptic Status as Refractory, Generalized Hypertonic Posturing: Report of Two Adolescents
by Giangennaro Coppola, Grazia Maria Giovanna Pastorino, Lucia Morcaldi, Floriana D’Onofrio and Francesca Felicia Operto
Medicina 2020, 56(10), 508; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56100508 - 28 Sep 2020
Cited by 3 | Viewed by 1977
Abstract
Psychogenic non-epileptic seizures (PNES) or dissociative seizures are found under the umbrella headings of functional/dissociative neurological disorders (FND) in psychiatric classifications (DSM-5; ICD-11). PNES are not characterized by any specific ictal or postictal EEG abnormalities. Patients with PNES can present with motor or [...] Read more.
Psychogenic non-epileptic seizures (PNES) or dissociative seizures are found under the umbrella headings of functional/dissociative neurological disorders (FND) in psychiatric classifications (DSM-5; ICD-11). PNES are not characterized by any specific ictal or postictal EEG abnormalities. Patients with PNES can present with motor or non-motor symptoms, frequently associated with a change in the level of consciousness. PNES duration is variable, often longer than that of epileptic seizures. Prolonged PNES, sometimes termed PNES status, involve continuous or repetitive events that exceed 30 min. Prolonged PNES are often misdiagnosed as an epileptic event and are often inappropriately treated with high doses of antiseizure drugs. In this report, we describe two adolescent patients who presented with prolonged PNES characterized by generalized hypertonic posturing and low levels of consciousness. Despite multiple presentation to the Emergency department, and multiple normal video-EEG, the patients were misdiagnosed with epilepsy and were inappropriately treated with antiseizure medications. Both patients presented psychiatric comorbidity, consisting of a major depressive disorder, obsessive-compulsive symptoms, social withdrawal, difficulty of social interaction, and anxious-perfectionist personality traits. The episodes of prolonged PNES gradually declined within 18 months in both patients. Full article
(This article belongs to the Special Issue New Trends in Neurodevelopmental Disorders)
4 pages, 418 KiB  
Case Report
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report
by Francesco Calì, Maurizio Elia, Mirella Vinci, Luigi Vetri, Edvige Correnti, Emanuele Trapolino, Michele Roccella, Francesca Vanadia and Valentino Romano
Medicina 2020, 56(8), 387; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56080387 - 01 Aug 2020
Cited by 2 | Viewed by 2106
Abstract
The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and seizures. Whole-exome sequencing performed on a [...] Read more.
The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and seizures. Whole-exome sequencing performed on a girl with an early onset epilepsy revealed that she was a compound heterozygote for two novel missense mutations of the DHRS9 gene likely to disrupt protein function. No previous studies have reported the implication of this gene in epilepsy. We discuss a new potential pathogenic mechanism underlying epilepsy in a child, due to a defective progesterone pathway. Full article
(This article belongs to the Special Issue New Trends in Neurodevelopmental Disorders)
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