Neurodevelopmental Disorders: From Pathophysiology to Novel Therapeutic Approaches—2nd Edition

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".

Deadline for manuscript submissions: 31 March 2025 | Viewed by 1658

Special Issue Editors


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Guest Editor
1. Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland
2. TRE Unit, Division of Psychiatric Specialties, Department of Psychiatry, University Hospital of Geneva, Geneva, Switzerland
Interests: ADHD; personality disorders from diagnosis to treatment

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Guest Editor
Department of Psychiatry, Hôpitaux Universitaires de Genève, Geneva, Switzerland
Interests: clinically oriented research in treatment-resistant depression; autism spectrum disorder and intellectual disability; main topics include diagnosis, treatment, genetics and neuroimaging

Special Issue Information

Dear Colleagues,

The DSM-5, introduced in 2013, has allowed for a renewed appreciation of the longitudinal, whole-life perspective of neurodevelopmental disorders in psychiatry, including autism spectrum disorder (ASD) and other communication, speech and language disorders and attention-deficit/hyperactivity disorder (ADHD), intellectual disability (ID), as well as other specific learning disorders.

However, our understanding of the basic aspects of the pathophysiology of these disorders and efficient therapies is still incomplete. The adult population suffering from these disorders is especially widely under-researched and rarely benefits from adequate treatments.

In this Special Issue of Biomedicines, we aim to present the actual state of the art in the understanding of the pathophysiology of neurodevelopmental disorders and their treatments, from birth to the end of life.

Dr. Nader Perroud
Dr. Markus Mathaus Kosel
Guest Editors

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Keywords

  • intellectual disability
  • autism spectrum disorder
  • attention-deficit/hyperactivity disorder
  • drug treatment
  • neuroimaging

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Published Papers (2 papers)

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Research

18 pages, 2217 KiB  
Article
Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea
by Ji Yoon Han, Tae Yun Kim and Joonhong Park
Biomedicines 2024, 12(12), 2663; https://doi.org/10.3390/biomedicines12122663 - 22 Nov 2024
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Abstract
Objectives: This study investigated the characteristics of adolescent-onset epilepsy (AOE) and conducted genetic tests on a cohort of 76 Korean patients to identify variants and expand the spectrum of mutations associated with AOE. Methods: Clinical exome sequencing after routine karyotyping and chromosomal microarray [...] Read more.
Objectives: This study investigated the characteristics of adolescent-onset epilepsy (AOE) and conducted genetic tests on a cohort of 76 Korean patients to identify variants and expand the spectrum of mutations associated with AOE. Methods: Clinical exome sequencing after routine karyotyping and chromosomal microarray was performed to identify causative variants and expand the spectrum of mutations associated with AOE. Results: In cases of AOE without neurodevelopmental delay (NDD), this study identified four likely pathogenic variants (LPVs) or variants of uncertain significance (VUS) and two copy number variations (CNVs). To explore the unique features of AOE; clinical manifestations were compared between patients with and without NDD. The analysis revealed statistically significant differences in the prevalence of males and the yield of genetic testing results. AOE without NDD had a lower prevalence in males (49%) compared to AOE with NDD (60%) (p = 0.007). Genetic alterations: AOE with NDD exhibited a higher frequency of genetic alterations (35%) compared to AOE without NDD (12%) (p = 0.011). Thorough evaluation of AOE can be particularly challenging in adolescent patients. Some individuals may display genetic variations due to a phenomenon known as locus heterogeneity, where different genetic causes lead to similar clinical presentations. Conclusions: Implementing a robust genetic workflow is crucial for accurately diagnosing AOE, even in cases with complex genetic underpinnings. This study underscores the importance of genetic testing as an essential diagnostic tool for AOE. Identifying genetic variants and understanding their clinical correlations can aid in improving diagnostic accuracy and optimizing treatment approaches for adolescent patients with epilepsy. Full article
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14 pages, 1510 KiB  
Article
Differences in the Interleukin Profiles in Inattentive ADHD Prepubertal Children Are Probably Related to Conduct Disorder Comorbidity
by Raquel González-Villén, María Luisa Fernández-López, Ana Checa-Ros, Pilar Tortosa-Pinto, Raquel Aguado-Rivas, Laura Garre-Morata, Darío Acuña-Castroviejo and Antonio Molina-Carballo
Biomedicines 2024, 12(8), 1818; https://doi.org/10.3390/biomedicines12081818 - 9 Aug 2024
Viewed by 1405
Abstract
Inflammatory cytokines are involved in attention deficit hyperactivity disorder (ADHD), a highly prevalent neurodevelopmental disorder. To quantify the baseline levels of pro- and anti-inflammatory cytokines and their changes after methylphenidate (MPH), a total of 31 prepubertal children with ADHD were recruited and subclassified [...] Read more.
Inflammatory cytokines are involved in attention deficit hyperactivity disorder (ADHD), a highly prevalent neurodevelopmental disorder. To quantify the baseline levels of pro- and anti-inflammatory cytokines and their changes after methylphenidate (MPH), a total of 31 prepubertal children with ADHD were recruited and subclassified into only two ADHD presentations—ADHD attention deficit (n = 13) or ADHD combined (n = 18). The children were also screened for oppositional defiant conduct disorder (ODCD) and anxiety disorder. Blood samples were drawn at 09:00 and after 4.63 ± 1.87 months of treatment. Four pro-inflammatory cytokines (interleukin-1beta (IL-1β), IL-5, IL-6, tumor necrosis factor-alpha (TNF-α)) and three anti-inflammatory cytokines (IL-4, IL-10, IL-13) were measured using a Luminex® assay. For statistics, a factorial analysis was performed in Stata 15.1. Overall, there were no statistically significant differences in the interleukin (IL) values induced by treatment. When grouped by presentation, the differences were present almost exclusively in ADHD-AD, usually with a profile opposite to that observed in ADHD-C, and with interactions between comorbid factors, with IL-1β (p = 0.01) and IL-13 (p = 0.006) being the ones reaching the greatest statistical significance. These differences are probably related to the ODCD factor, and they disappear after treatment. In conclusion, the changes observed in cytokine levels in prepubertal children only in the ADHD-AD presentation are probably related to comorbidities (specifically ODCD) and are mitigated after treatment. Full article
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