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Diagnostic Biomarkers and Novel Therapeutics Targets for Fragile X Syndrome,...
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Diagnostic Biomarkers and Novel Therapeutics Targets for Fragile X Syndrome, Autism Spectrum Disorders and Genetic Neurodevelopmental Diseases: Advances and Challenges

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 2552

Special Issue Editors

Dr. Yolanda De Diego-Otero

E-Mail Website
Guest Editor
Institute of Biomedical Research of Málaga (IBIMA), 29010 Malaga, Spain
Interests: fragile X syndrome; genetics; adrenoleukodystrophy; autism spectrum disorders; neurodevelopmental disorders
Dr. Rocio Calvo-Medina

E-Mail Website
Guest Editor
Institute of Biomedical Research of Málaga (IBIMA), 29010 Malaga, Spain
Interests: autism spectrum disorders; neurodevelopmental disorders; developmental neuroscience; cognitive development

Special Issue Information

Dear Colleagues,

In 2023, we will be launching our Special Issue on “Diagnostic Biomarkers and Novel Therapeutics Targets for Fragile X Syndrome, Autism Spectrum Disorders and Genetic Neurodevelopmental Diseases: Advances and Challenges”.

The year 1991 saw the discovery of the mutation on the FMR1 gene as the cause of fragile X syndrome, the most frequent form of intellectual disability and autism of inherited origin; this can be considered one of the major breakthroughs in medical genetics.

Nowadays, it is well known that genetic mutations accompanied by epigenetic alterations, metagenomics changes and environmental factors may be also involved in ASD and neurodevelopmental disorders.

In the three decades that have passed since the genetic discovery, the focus in FXS, ASD and NDD research has been understanding the molecular mechanisms underlying these disorders, the generation of cell and animal models, and new therapeutic strategies.

The goal is to provide both clinicians and researchers worldwide with innovative research, therapeutic advances and challenges in pharmacological and non medical intervention in FXS, ASD and NDD, as well as clinical knowledge in diagnosis, biomarkers and assessing and caring for individuals with neurodevelopmental diseases.

We welcome a wide range of manuscripts from expert clinicians and researchers on various topics, including but not limited to genetics, biomarkers for early diagnosis, common medical and psychiatric co-occurring conditions, neurological symptoms, management of severe behavior, mood dysregulation, nonmedical intervention and psychological support. We welcome both solicited and unsolicited submissions that will contribute to the goal of this Special Issue.

Dr. Yolanda De Diego-Otero
Dr. Rocio Calvo-Medina
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. Biomedicines 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.

Published Papers (2 papers)

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22 pages, 4283 KiB  
Article
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment
by Laura Pérez-Cano, Luigi Boccuto, Francesco Sirci, Jose Manuel Hidalgo, Samuel Valentini, Mattia Bosio, Xavier Liogier D’Ardhuy, Cindy Skinner, Lauren Cascio, Sujata Srikanth, Kelly Jones, Carrie Buchanan, Steven A. Skinner, Baltazar Gomez-Mancilla, Jean-Marc Hyvelin, Emre Guney and Lynn Durham
Biomedicines 2024, 12(5), 991; https://doi.org/10.3390/biomedicines12050991 - 30 Apr 2024
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Abstract
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. The diagnosis of ASD is currently based on behavior criteria, which overlooks the diversity of genetic, neurophysiological, and clinical manifestations. Failure to acknowledge such heterogeneity [...] Read more.
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. The diagnosis of ASD is currently based on behavior criteria, which overlooks the diversity of genetic, neurophysiological, and clinical manifestations. Failure to acknowledge such heterogeneity has hindered the development of efficient drug treatments for ASD and other NDDs. DEPI (Databased Endophenotyping Patient Identification) is a systems biology, multi-omics, and machine learning-driven platform enabling the identification of subgroups of patients with NDDs and the development of patient-tailored treatments. In this study, we provide evidence for the validation of a first clinically and biologically defined subgroup of patients with ASD identified by DEPI, ASD Phenotype 1 (ASD-Phen1). Among 313 screened patients with idiopathic ASD, the prevalence of ASD-Phen1 was observed to be ~24% in 84 patients who qualified to be enrolled in the study. Metabolic and transcriptomic alterations differentiating patients with ASD-Phen1 were consistent with an over-activation of NF-κB and NRF2 transcription factors, as predicted by DEPI. Finally, the suitability of STP1 combination treatment to revert such observed molecular alterations in patients with ASD-Phen1 was determined. Overall, our results support the development of precision medicine-based treatments for patients diagnosed with ASD. Full article
(This article belongs to the Special Issue Diagnostic Biomarkers and Novel Therapeutics Targets for Fragile X Syndrome, Autism Spectrum Disorders and Genetic Neurodevelopmental Diseases: Advances and Challenges)
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Systematic Review
DDX3X Syndrome Behavioral Manifestations with Particular Emphasis on Psycho-Pathological Symptoms—A Review
by Urszula Stefaniak, Roksana Malak, Ada Kaczmarek, Włodzimierz Samborski and Ewa Mojs
Biomedicines 2023, 11(11), 3046; https://doi.org/10.3390/biomedicines11113046 - 14 Nov 2023
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Abstract
(1) Background: Identification of typical behavioral manifestations in patients with DEAD-Box Helicase 3 X-linked gene (DDX3X) variants plays a crucial role in accurately diagnosing and managing the syndrome. The objective of this paper was to carry out a review of medical [...] Read more.
(1) Background: Identification of typical behavioral manifestations in patients with DEAD-Box Helicase 3 X-linked gene (DDX3X) variants plays a crucial role in accurately diagnosing and managing the syndrome. The objective of this paper was to carry out a review of medical and public databases and assess the behavioral features of the DDX3X syndrome (DDX3X), with a particular focus on psycho-pathological symptoms. (2) Methods: An extensive computerized search was conducted in various databases, including PubMed, Medline Complete, Science Direct, Scopus, and Web of Science. Specific keywords and Medical Subject Headings were used to ensure the inclusion of relevant studies. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were applied to assess the methodological quality of the manuscripts. (3) Results: Only nine papers out of the 272 assessed met the inclusion criteria. These articles revealed various psycho-pathological manifestations in patients with the DDX3X syndrome. Intellectual disability (ID) or developmental disability (DD), speech delay, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), generalized anxiety disorder (GAD), self-injurious behaviors (SIBs), sensory symptoms and sleep disturbance were demonstrated to be the most common psycho-pathological behavior manifestations. (4) Conclusions: Patients with the DDX3X syndrome manifest a wide spectrum of psycho-pathological symptoms. A comprehensive investigation of these symptoms in patients is essential for early diagnosis and effective therapy. Full article
(This article belongs to the Special Issue Diagnostic Biomarkers and Novel Therapeutics Targets for Fragile X Syndrome, Autism Spectrum Disorders and Genetic Neurodevelopmental Diseases: Advances and Challenges)
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