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Innovative Approaches to Neurodevelopmental Disorders
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Innovative Approaches to Neurodevelopmental Disorders

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Clinical Medicine, Cell, and Organism Physiology".

Deadline for manuscript submissions: closed (25 June 2023) | Viewed by 10812

Special Issue Editor

Dr. Olga Sysoeva

E-Mail Website
Guest Editor
Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Science, Moscow, Russia
Interests: unraveling the link between genes, neuronal processes, and psychological functions; recent progress in molecular genetics; genetic disorders such as autism spectrum disorder (ASD) and others associated with ASD syndromes; basic sensory functions and their EEG/MEG correlate

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders include a wide range of abnormalities in development, from mild reading problems and difficulties in communication to severe intellectual disabilities. These represent a great burden to society as available treatment options are largely insufficient. While there are clearly different neurodevelopmental disorders there, might be a common biological underpinning some of them. At the same time, there might be different etiologies within one diagnosis, e.g., autism spectrum disorders. Thus, the current issue invites manuscripts on different neurodevelopmental disorders to look into commonalities as well as differences among their clinical phenotypes and biological characteristics.

This Special Issue aims to collect studies related to neurodevelopmental disorders from different fields, including genetics, computer science, psychology, and neuroscience. Animal studies that shed light on the mechanisms of atypical development will also be considered. Manuscripts that combine different approaches are particularly encouraged. I believe that integration of efforts from different fields as well as development of innovative combinations of different approaches in studies of neurodevelopmental disorders is key to progress in understanding the mechanisms of atypical development. Discovering objective biomarkers and their combination with neurobiological profiles linked to different developmental trajectories is the way toward personalized medicine.

Dr. Olga Sysoeva
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. Journal of Personalized Medicine 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.

Keywords

  • neurodevelopmental disorders 
  • neurophysiology 
  • genes 
  • neuroimaging 
  • EEG

Published Papers (6 papers)

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Research

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25 pages, 4779 KiB  
Article
Exploring Genetic and Neural Risk of Specific Reading Disability within a Nuclear Twin Family Case Study: A Translational Clinical Application
by Tina Thomas, Griffin Litwin, David J. Francis and Elena L. Grigorenko
J. Pers. Med. 2023, 13(1), 156; https://doi.org/10.3390/jpm13010156 - 14 Jan 2023
Viewed by 1425
Abstract
Imaging and genetic studies have characterized biological risk factors contributing to specific reading disability (SRD). The current study aimed to apply this literature to a family of twins discordant for SRD and an older sibling with reading difficulty. Intraclass correlations were used to [...] Read more.
Imaging and genetic studies have characterized biological risk factors contributing to specific reading disability (SRD). The current study aimed to apply this literature to a family of twins discordant for SRD and an older sibling with reading difficulty. Intraclass correlations were used to understand the similarity of imaging phenotypes between pairs. Reading-related genes and brain region phenotypes, including asymmetry indices representing the relative size of left compared to right hemispheric structures, were descriptively examined. SNPs that corresponded between the SRD siblings and not the typically developing (TD) siblings were in genes ZNF385D, LPHN3, CNTNAP2, FGF18, NOP9, CMIP, MYO18B, and RBFOX2. Imaging phenotypes were similar among all sibling pairs for grey matter volume and surface area, but cortical thickness in reading-related regions of interest (ROIs) was more similar among the siblings with SRD, followed by the twins, and then the TD twin and older siblings, suggesting cortical thickness may differentiate risk for this family. The siblings with SRD had more symmetry of cortical thickness in the transverse temporal and superior temporal gyri, while the TD sibling had greater rightward asymmetry. The TD sibling had a greater leftward asymmetry of grey matter volume and cortical surface area in the fusiform, supramarginal, and transverse temporal gyrus. This exploratory study demonstrated that reading-related risk factors appeared to correspond with SRD within this family, suggesting that early examination of biological factors may benefit early identification. Future studies may benefit from the use of polygenic risk scores or machine learning to better understand SRD risk. Full article
(This article belongs to the Special Issue Innovative Approaches to Neurodevelopmental Disorders)
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9 pages, 2299 KiB  
Communication
Social Behavioral Deficits in Krushinsky-Molodkina Rats, an Animal Model of Audiogenic Epilepsy
by Anastasiya A. Rebik, Vyacheslav D. Riga, Kirill S. Smirnov, Olga V. Sysoeva and Inna S. Midzyanovskaya
J. Pers. Med. 2022, 12(12), 2062; https://doi.org/10.3390/jpm12122062 - 14 Dec 2022
Cited by 4 | Viewed by 1389
Abstract
In clinical practice, epilepsy is often comorbid with the autism spectrum disorders (ASDs). This warrants a search of animal models to uncover putative overlapping neuronal mechanisms. The Krushinsky-Molodkina (KM) rat strain is one of the oldest inbred animal models for human convulsive epilepsies. [...] Read more.
In clinical practice, epilepsy is often comorbid with the autism spectrum disorders (ASDs). This warrants a search of animal models to uncover putative overlapping neuronal mechanisms. The Krushinsky-Molodkina (KM) rat strain is one of the oldest inbred animal models for human convulsive epilepsies. We analyzed the behavioral response of adult seizure-naive KM males in three-chambered tests for social preference. We found that a presence of social stimuli (encaged unfamiliar Wistar rats of the same age and sex) evoked a reduced or reversed exploratory response in freely moving KM individuals. The epilepsy-prone rats demonstrated remarkably shortened bouts of social contacts and displayed less locomotion around the stranger rat-containing boxes, together with a pronounced freezing response. The decrease in social preference was not due to a general decrease in activity, since relative measures of activity, the index of sociability, were decreased, too. The susceptibility to audiogenic seizures was verified in the KM cohort but not seen in the control Wistar group. We propose the KM rat strain as a new animal model for comorbid ASD and epilepsy. Full article
(This article belongs to the Special Issue Innovative Approaches to Neurodevelopmental Disorders)
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16 pages, 1893 KiB  
Article
Clinical EEG of Rett Syndrome: Group Analysis Supplemented with Longitudinal Case Report
by Galina Portnova, Anastasia Neklyudova, Victoria Voinova and Olga Sysoeva
J. Pers. Med. 2022, 12(12), 1973; https://doi.org/10.3390/jpm12121973 - 29 Nov 2022
Cited by 3 | Viewed by 1588
Abstract
Rett syndrome (RTT), a severe neurodevelopmental disorder caused by MECP2 gene abnormalities, is characterized by atypical EEG activity, and its detailed examination is lacking. We combined the comparison of one-time eyes open EEG resting state activity from 32 girls with RTT and their [...] Read more.
Rett syndrome (RTT), a severe neurodevelopmental disorder caused by MECP2 gene abnormalities, is characterized by atypical EEG activity, and its detailed examination is lacking. We combined the comparison of one-time eyes open EEG resting state activity from 32 girls with RTT and their 41 typically developing peers (age 2–16 years old) with longitudinal following of one girl with RTT to reveal EEG parameters which correspond to the RTT progression. Traditional measures, such as epileptiform abnormalities, generalized background activity, beta activity and the sensorimotor rhythm, were supplemented by a new frequency rate index measured as the ratio between high- and low-frequency power of sensorimotor rhythm. Almost all studied EEG parameters differentiated the groups; however, only the elevated generalized background slowing and decrease in our newly introduced frequency rate index which reflects attenuation in the proportion of the upper band of sensorimotor rhythm in RTT showed significant relation with RTT progression both in longitudinal case and group analysis. Moreover, only this novel index was linked to the breathing irregularities RTT symptom. The percentage of epileptiform activity was unrelated to RTT severity, confirming previous studies. Thus, resting EEG can provide information about the pathophysiological changes caused by MECP2 abnormalities and disease progression. Full article
(This article belongs to the Special Issue Innovative Approaches to Neurodevelopmental Disorders)
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13 pages, 888 KiB  
Article
Altered Cerebral Processing of Videos in Children with Motor Dysfunction Suggests Broad Embodiment of Perceptual Cognitive Functions
by Ioannis Ntoumanis, Olga Agranovich, Anna N. Shestakova, Evgeny Blagovechtchenski, Maria Koriakina, Dzerassa Kadieva, Grigory Kopytin and Iiro P. Jääskeläinen
J. Pers. Med. 2022, 12(11), 1841; https://doi.org/10.3390/jpm12111841 - 04 Nov 2022
Cited by 2 | Viewed by 1830
Abstract
Embodied cognition theory suggests that motor dysfunctions affect cognition. We examined this hypothesis by inspecting whether cerebral processing of movies, featuring both goal-directed movements and content without humans, differ between children with congenital motor dysfunction and healthy controls. Electroencephalography was recorded from 23 [...] Read more.
Embodied cognition theory suggests that motor dysfunctions affect cognition. We examined this hypothesis by inspecting whether cerebral processing of movies, featuring both goal-directed movements and content without humans, differ between children with congenital motor dysfunction and healthy controls. Electroencephalography was recorded from 23 healthy children and 23 children with limited or absent arm movement due to either arthrogryposis multiplex congenita or obstetric brachial plexus palsy. Each individual patient exhibited divergent neural responses, disclosed by significantly lower inter-subject correlation (ISC) of brain activity, during the videos compared to the healthy children. We failed to observe associations between this finding and the motor-related content of the various video scenes, suggesting that differences between the patients and controls reflect modulation of perceptual-cognitive processing of videos by upper-limb motor dysfunctions not limited to the watching-mirroring of motor actions. Thus, perceptual-cognitive processes in the brain seem to be more robustly embodied than has previously been thought. Full article
(This article belongs to the Special Issue Innovative Approaches to Neurodevelopmental Disorders)
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Other

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15 pages, 1316 KiB  
Case Report
Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
by Oksana I. Talantseva, Galina V. Portnova, Raisa S. Romanova, Daria A. Martynova, Olga V. Sysoeva and Elena L. Grigorenko
J. Pers. Med. 2023, 13(3), 439; https://doi.org/10.3390/jpm13030439 - 28 Feb 2023
Cited by 1 | Viewed by 1432
Abstract
Potocki–Lupski Syndrome (PTLS) is a rare condition associated with a duplication of 17p11.2 that may underlie a wide range of congenital abnormalities and heterogeneous behavioral phenotypes. Along with developmental delay and intellectual disability, autism-specific traits are often reported to be the most common [...] Read more.
Potocki–Lupski Syndrome (PTLS) is a rare condition associated with a duplication of 17p11.2 that may underlie a wide range of congenital abnormalities and heterogeneous behavioral phenotypes. Along with developmental delay and intellectual disability, autism-specific traits are often reported to be the most common among patients with PTLS. To contribute to the discussion of the role of autism spectrum disorder (ASD) in the PTLS phenotype, we present a case of a female adolescent with a de novo dup(17) (p11.2p11.2) without ASD features, focusing on in-depth clinical, behavioral, and electrophysiological (EEG) evaluations. Among EEG features, we found the atypical peak–slow wave patterns and a unique saw-like sharp wave of 13 Hz that was not previously described in any other patient. The power spectral density of the resting state EEG was typical in our patient with only the values of non-linear EEG dynamics: Hjorth complexity and fractal dimension were drastically attenuated compared with the patient’s neurotypical peers. Here we also summarize results from previously published reports of PTLS that point to the approximately 21% occurrence of ASD in PTLS that might be biased, taking into account methodological limitations. More consistent among PTLS patients were intellectual disability and speech and language disorders. Full article
(This article belongs to the Special Issue Innovative Approaches to Neurodevelopmental Disorders)
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16 pages, 1109 KiB  
Case Report
Effect of a NICU to Home Physical Therapy Intervention on White Matter Trajectories, Motor Skills, and Problem-Solving Skills of Infants Born Very Preterm: A Case Series
by Christiana Dodd Butera, Claire Rhee, Claire E. Kelly, Thijs Dhollander, Deanne K. Thompson, Jessica Wisnowski, Rebecca M. Molinini, Barbara Sargent, Natasha Lepore, Greg Vorona, Dave Bessom, Mary S. Shall, Jennifer Burnsed, Richard D. Stevenson, Shaaron Brown, Amy Harper, Karen D. Hendricks-Muñoz and Stacey C. Dusing
J. Pers. Med. 2022, 12(12), 2024; https://doi.org/10.3390/jpm12122024 - 07 Dec 2022
Cited by 2 | Viewed by 1915
Abstract
Infants born very preterm (VPT; ≤29 weeks of gestation) are at high risk of developmental disabilities and abnormalities in neural white matter characteristics. Early physical therapy interventions such as Supporting Play Exploration and Early Development Intervention (SPEEDI2) are associated with improvements in developmental [...] Read more.
Infants born very preterm (VPT; ≤29 weeks of gestation) are at high risk of developmental disabilities and abnormalities in neural white matter characteristics. Early physical therapy interventions such as Supporting Play Exploration and Early Development Intervention (SPEEDI2) are associated with improvements in developmental outcomes. Six VPT infants were enrolled in a randomised clinical trial of SPEEDI2 during the transition from the neonatal intensive care unit to home over four time points. Magnetic resonance imaging scans and fixel-based analysis were performed, and fibre density (FD), fibre cross-section (FC), and fibre density and cross-section values (FDC) were computed. Changes in white matter microstructure and macrostructure were positively correlated with cognitive, motor, and motor-based problem solving over time on developmental assessments. In all infants, the greatest increase in FD, FC, and FDC occurred between Visit 1 and 2 (mean chronological age: 2.68–6.22 months), suggesting that this is a potential window of time to optimally support adaptive development. Results warrant further studies with larger groups to formally compare the impact of intervention and disparity on neurodevelopmental outcomes in infants born VPT. Full article
(This article belongs to the Special Issue Innovative Approaches to Neurodevelopmental Disorders)
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