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Brain Sciences
Special Issues
Promising Horizons for the Diagnosis and Treatment of Fragile X...
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Promising Horizons for the Diagnosis and Treatment of Fragile X Syndrome

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Developmental Neuroscience".

Deadline for manuscript submissions: closed (31 October 2024) | Viewed by 1114

Special Issue Editors

Dr. James Brasic

E-Mail Website
Guest Editor
Section of High Resolution Brain Positron Emission Tomography Imaging, Division of Nuclear Medicine and Molecular Imaging, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Interests: autism spectrum disorder (ASD); catatonia; movement disorders; neurobehavioral measurements; neurodevelopmental disabilities; neurodegenerative disorders; positron emission tomography (PET); rating scales; schizophrenia; signal processing
Dr. Dejan Budimirovic

E-Mail Website
Guest Editor
1. Departments of Psychiatry and Neurogenetics, Fragile X Clinic, Kennedy Krieger Institute, Baltimore, MD, USA
2. Department of Psychiatry & Behavioral Sciences-Child Psychiatry, Johns Hopkins School of Medicine, Baltimore, MD, USA
Interests: autism spectrum disorder; fragile X syndrome; neurodevelopmental disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Fragile X syndrome (FXS), the leading single-gene cause of intellectual disability (ID) and autism spectrum disorder (ASD), afflicts about 1 in 7000 males and 1 in 11,000 females. FXS results from deficiencies in the Fragile X Messenger Ribonuclear Protein (FMRP), leading to the accumulation of more than 200 cytosine-guanine-guanine (CGG) repeats. This Special Issue will focus on novel discoveries in basic scientific models of FXS and their applications to innovative clinical translational investigations to optimize the diagnosis and treatment of FXS in humans. Research reports about promising advances from basic scientists, clinical translational investigators, and clinicians are sought.

Dr. James Brasic
Dr. Dejan Budimirovic
Guest Editors

Manuscript Submission Information

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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. Brain Sciences 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 2200 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

  • fragile X syndrome
  • intellectual disability
  • autism spectrum disorder
  • clinical trials
  • placebo effect
  • quantitative measures
  • clinical translational investigations
  • basic sciences
  • fragile X messenger ribonuclear protein (FMRP)
  • genetics

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Published Papers (1 paper)

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Research

18 pages, 3220 KiB  
Article
A Two-Hit Approach Inducing Flurothyl Seizures in Fmr1 Knockout Mice Impacts Anxiety and Repetitive Behaviors
by Katherine J. Blandin, David A. Narvaiz, Donald Gregory Sullens, Paige D. Womble, Samantha L. Hodges, Matthew S. Binder, Amanda Faust, Phuoc H. Nguyen, Zachary J. Pranske and Joaquin N. Lugo
Brain Sci. 2024, 14(9), 892; https://doi.org/10.3390/brainsci14090892 - 31 Aug 2024
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Abstract
Background: Fragile X Syndrome (FXS) is the leading monogenetic cause of autism spectrum disorder (ASD) and is associated with seizures. We examined the impact of repeated seizures on the behavioral and molecular changes in male Fmr1 knockout (KO) mice and wild-type (WT) mice. [...] Read more.
Background: Fragile X Syndrome (FXS) is the leading monogenetic cause of autism spectrum disorder (ASD) and is associated with seizures. We examined the impact of repeated seizures on the behavioral and molecular changes in male Fmr1 knockout (KO) mice and wild-type (WT) mice. Methods: Seizures were induced by administering three flurothyl seizures per day across postnatal days (PD) 7–11, for a total of 15 seizures. In adulthood, mice were tested in a battery of behavioral tasks to assess long-term behavioral deficits. Results: The two-hit impact of a Fmr1 knockout and seizures resulted in decreased anxiety-like behavior in the elevated plus maze test and a longer latency to their first nose poke (repetitive behavior). Seizures resulted in decreased activity, decreased repetitive behavior (grooming and rearings), and decreased social behavior, while they also increased habituation to auditory stimuli and increased freezing in delayed fear conditioning in both KO and control mice. KO mice displayed increased repetitive behavior in the open field task (clockwise revolutions) and repeated nose pokes, and decreased anxiety in the open field test. No differences in mTOR signaling were found. Conclusions: These findings further illuminate the long-term effects of synergistic impact of two hits on the developing brain. Full article
(This article belongs to the Special Issue Promising Horizons for the Diagnosis and Treatment of Fragile X Syndrome)
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