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Brain Sciences
Special Issues
Reviews on Developmental Brain Disorders
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Reviews on Developmental Brain Disorders

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

Deadline for manuscript submissions: closed (25 April 2023) | Viewed by 8573

Special Issue Editor

Dr. Corrado Romano

E-Mail Website
Guest Editor
1. Department of Biomedical Sciences and Biotechnologies (Biometec), The University of Catania, 95123 Catania, Italy
2. The Oasi Research Institute-IRCCS, 94018 Troina, Italy
Interests: genomic disorders; neurodevelopmental disorders; intellectual disability; Down syndrome; multiple congenital anomalies; genes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Developmental Brain Disorders are a cornerstone of neuropsychiatry and a huge slice of health conditions impairing children and, subsequently, adults. Their etiology shares a mix of environment and genetics. The pace of new information on this topic is accelerating daily, spanning from new infectious agents to acquired lifestyles and new genes. Such a scenario needs to be constantly updated with trustworthy sources of information. Timely reviews are an excellent approach for the achievement of this goal. The aim of this Special Issue is the collection of thorough and updated reviews on the peculiar endophenotypes of developmental brain disorders. While the submission of a review on the whole panorama of developmental brain disorders will not be accepted, reviews on single endophenotypes are strongly encouraged. As a matter of example, intellectual disability, autism spectrum disorder, cerebral palsy, epileptic encephalopathy, attention deficit hyperactivity disorder, developmental dyslexia, tic disorders, and coordination disorders are topics waiting for the submission of specific reviews.

Dr. Corrado Romano
Guest Editor

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. 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

  • developmental brain disorders
  • neurodevelopmental disorders
  • intellectual disability
  • autism spectrum disorder
  • attention deficit hyperactivity disorder
  • cerebral palsy
  • developmental dyslexia

Published Papers (2 papers)

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Review

18 pages, 3172 KiB  
Review
The Genetics of Intellectual Disability
by Sandra Jansen, Lisenka E. L. M. Vissers and Bert B. A. de Vries
Brain Sci. 2023, 13(2), 231; https://doi.org/10.3390/brainsci13020231 - 30 Jan 2023
Cited by 8 | Viewed by 5502
Abstract
Intellectual disability (ID) has a prevalence of ~2–3% in the general population, having a large societal impact. The underlying cause of ID is largely of genetic origin; however, identifying this genetic cause has in the past often led to long diagnostic Odysseys. Over [...] Read more.
Intellectual disability (ID) has a prevalence of ~2–3% in the general population, having a large societal impact. The underlying cause of ID is largely of genetic origin; however, identifying this genetic cause has in the past often led to long diagnostic Odysseys. Over the past decades, improvements in genetic diagnostic technologies and strategies have led to these causes being more and more detectable: from cytogenetic analysis in 1959, we moved in the first decade of the 21st century from genomic microarrays with a diagnostic yield of ~20% to next-generation sequencing platforms with a yield of up to 60%. In this review, we discuss these various developments, as well as their associated challenges and implications for the field of ID, which highlight the revolutionizing shift in clinical practice from a phenotype-first into genotype-first approach. Full article
(This article belongs to the Special Issue Reviews on Developmental Brain Disorders)
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19 pages, 1617 KiB  
Review
Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis
by Pien M. M. Weerkamp, Eva M. Mol, Dirk J. J. Sweere, Debby G. M. Schrans, R. Jeroen Vermeulen, Sylvia Klinkenberg, Petra P. M. Hurks and Jos G. M. Hendriksen
Brain Sci. 2022, 12(11), 1544; https://doi.org/10.3390/brainsci12111544 - 14 Nov 2022
Cited by 5 | Viewed by 2474
Abstract
Background: Intelligence scores in males with Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) remain a major issue in clinical practice. We performed a literature review and meta-analysis to further delineate the intellectual functioning of dystrophinopathies. Method: Published, peer-reviewed articles assessing intelligence, [...] Read more.
Background: Intelligence scores in males with Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) remain a major issue in clinical practice. We performed a literature review and meta-analysis to further delineate the intellectual functioning of dystrophinopathies. Method: Published, peer-reviewed articles assessing intelligence, using Wechsler Scales, of males with DMD or BMD were searched from 1960 to 2022. Meta-analysis with random-effects models was conducted, assessing weighted, mean effect sizes of full-scale IQ (FSIQ) scores relative to normative data (Mean = 100, Standard Deviation = 15). Post hoc we analysed differences between performance and verbal intelligence scores. Results: 43 studies were included, reporting data on 1472 males with dystrophinopathies; with FSIQ scores available for 1234 DMD (k = 32) and 101 BMD (k = 7). DMD males score, on average, one standard deviation below average (FSIQ = 84.76) and significantly lower than BMD (FSIQ = 92.11). Compared to a previous meta-analysis published in 2001, we find, on average, significantly higher FSIQ scores in DMD. Conclusion: Males with Duchenne have, on average, significantly lower FSIQ scores than BMD males and the general population. Clinicians must consider lower intelligence in dystrophinopathies to ensure good clinical practice. Full article
(This article belongs to the Special Issue Reviews on Developmental Brain Disorders)
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