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Pediatric Reports May 2024Klinefelter syndrome (KS), also known as 47,XXY, is a genetic disorder characterized by the presence of an extra X chromosome. Despite the prevalence of verbal learning... (Review)
Review
Klinefelter syndrome (KS), also known as 47,XXY, is a genetic disorder characterized by the presence of an extra X chromosome. Despite the prevalence of verbal learning disabilities, memory impairments, and executive function deficits in individuals with KS, comprehensive research on the neuropsychological profiles of affected children and adolescents remains limited. Additionally, KS has been associated with comorbid conditions such as depression, anxiety, schizophrenia, attention-deficit hyperactivity disorder (ADHD), and autism spectrum disorders (ASDs). However, systematic investigations into the neuropsychological manifestations of KS in pediatric populations are scarce. Therefore, the primary objectives of this review are to provide an overview of key studies examining the neuropsychological profiles of children and adolescents with KS and to delineate the limitations and implications of existing research findings. By synthesizing available literature, this review aims to bridge the gap in understanding the cognitive and behavioral characteristics of children and adolescents with KS, shedding light on potential avenues for future research and clinical interventions. Ultimately, this review serves as a valuable resource for clinicians, researchers, policymakers, parents, and educators involved in the assessment and management of the neuropsychological aspects of Klinefelter syndrome in pediatric populations.
PubMed: 38921701
DOI: 10.3390/pediatric16020036 -
European Journal of Investigation in... May 2024The prevalence of diagnosed cases of autism has increased rapidly, which has raised interest in studying the variables related to the well-being of these families. The... (Review)
Review
The prevalence of diagnosed cases of autism has increased rapidly, which has raised interest in studying the variables related to the well-being of these families. The purpose of this paper is to review the recent literature on other variables related to family well-being, such as parenting styles. We conducted a systematic review using the PRISMA check list and bias assessment with the aim of analyzing if the concepts of autism, well-being and parenting style are related. We screened 755 references from relevant databases like Scopus, Pubmed, PscyInfo EBSCO, Web of Science and Dialnet, updated on May 2024. Sixteen full text articles and abstracts were read. It was identified that the authoritative parenting style, as well as those based on warmth, establishing relationships and emotional bonding, and low expressed emotion were positively related to family well-being. On the other hand, authoritarian, permissive and overprotective styles, as well as critical, punishing and training-based, were negatively associated with well-being and quality of family life.
PubMed: 38921067
DOI: 10.3390/ejihpe14060101 -
Behavioral Sciences (Basel, Switzerland) May 2024Despite the consensus that early identification leads to better outcomes for individuals with autism spectrum disorder (ASD), recent research reveals that the average...
Despite the consensus that early identification leads to better outcomes for individuals with autism spectrum disorder (ASD), recent research reveals that the average age of diagnosis in the Greek population is approximately six years. However, this age of diagnosis is delayed by an additional two years for families from lower-income or minority backgrounds. These disparities result in adverse impacts on intervention outcomes, which are further burdened by the often time-consuming and labor-intensive language assessments for children with ASD. There is a crucial need for tools that increase access to early assessment and diagnosis that will be rigorous and objective. The current study leverages the capabilities of artificial intelligence to develop a reliable and practical model for distinguishing children with ASD from typically-developing peers based on their narrative and vocabulary skills. We applied natural language processing-based extraction techniques to automatically acquire language features (narrative and vocabulary skills) from storytelling in 68 children with ASD and 52 typically-developing children, and then trained machine learning models on the children's combined narrative and expressive vocabulary data to generate behavioral targets that effectively differentiate ASD from typically-developing children. According to the findings, the model could distinguish ASD from typically-developing children, achieving an accuracy of 96%. Specifically, out of the models used, hist gradient boosting and XGBoost showed slightly superior performance compared to the decision trees and gradient boosting models, particularly regarding accuracy and F1 score. These results bode well for the deployment of machine learning technology for children with ASD, especially those with limited access to early identification services.
PubMed: 38920791
DOI: 10.3390/bs14060459 -
Cells Jun 2024Neurological and neuropsychiatric disorders pose substantial challenges to public health, necessitating a comprehensive understanding of the molecular mechanisms... (Review)
Review
Neurological and neuropsychiatric disorders pose substantial challenges to public health, necessitating a comprehensive understanding of the molecular mechanisms underlying their pathogenesis. In recent years, the focus has shifted toward the intricate world of non-coding RNAs (ncRNAs), a class of RNA molecules that do not encode proteins but play pivotal roles in gene regulation and cellular processes. This review explores the emerging significance of ncRNAs in the context of neurological and neuropsychiatric disorders, shedding light on their diverse functions and regulatory mechanisms. The dysregulation of various ncRNAs, including microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), has been implicated in the pathophysiology of conditions such as Alzheimer's disease, Parkinson's disease, schizophrenia, and mood disorders. This review delves into the specific roles these ncRNAs play in modulating key cellular processes, including synaptic plasticity, neuroinflammation, and apoptosis, providing a nuanced understanding of their impact on disease progression. Furthermore, it discusses the potential diagnostic and therapeutic implications of targeting ncRNAs in neurological and neuropsychiatric disorders. The identification of specific ncRNA signatures holds promise for the development of novel biomarkers for early disease detection, while the manipulation of ncRNA expression offers innovative therapeutic avenues. Challenges and future directions in the field are also considered, highlighting the need for continued research to unravel the complexities of ncRNA-mediated regulatory networks in the context of neurological and neuropsychiatric disorders. This review aims to provide a comprehensive overview of the current state of knowledge and stimulate further exploration into the fascinating realm of ncRNAs in the brain's intricate landscape.
Topics: Humans; RNA, Untranslated; Nervous System Diseases; Mental Disorders; RNA, Circular; Animals; RNA, Long Noncoding; Gene Expression Regulation; MicroRNAs
PubMed: 38920691
DOI: 10.3390/cells13121063 -
Acta Odontologica Latinoamericana : AOL Apr 2024Language disorders may interfere with social integration and affectpersonal development. Beca-use the balance of the stomatognathic system can interfere with language,...
UNLABELLED
Language disorders may interfere with social integration and affectpersonal development. Beca-use the balance of the stomatognathic system can interfere with language, it is important for speech therapy and dentistry to work together, providing multidisciplinar y Healthcare.
AIM
To analyze the 100 most frequently cited articles on language disorders in children and adolescents and assess the interplay with dentistry by means of a bibliometric analysis.
MATERIALS AND METHOD
A search of the 100 most frequently cited articles up to December 2021 on language disorders was performed in the Web of Science Core Collection database. Four researchers extracted the data on number of citations, title, authors, country, year of publication, journals, study design, prevalent clinical conditions, and area of expertise. The analyses were performed using VOSviewer and Excel.
RESULTS
The total number of citations ranged from 251 to 1,431. Four articles were cited more than 1,000 times. Bishop DVM (10 articles; 3,653 citations) and Tomblin JD (10 articles; 4,261 citations) were the most frequently cited authors. The institutions with the largest number of publications were the University of Oxford/England (11%) and the University of Kansas/USA (8%). Observational study design was the most frequent (77%). Autism spectrum disorder (18%) and dyslexia (14%) were the most broadly investigated clinical conditions. Speech-language pathology (32%) was the area of expertise with the largest number of articles, and none of the top 100 studies showed interplay with dentistry.
CONCLUSION
The 100 most widely cited articles on language disorders are mostly observational, mainly address autism spectrum disorder, and are in the field of speech-language pathology No study reported interplay with dentistry.
Topics: Bibliometrics; Humans; Child; Adolescent; Language Development Disorders; Dentistry
PubMed: 38920128
DOI: 10.54589/aol.37/1/68 -
Journal of Neurodevelopmental Disorders Jun 2024Among the current avenues of research into the origins and development of the autism spectrum, those concerning atypical levels of sensory responsiveness are gaining...
BACKGROUND
Among the current avenues of research into the origins and development of the autism spectrum, those concerning atypical levels of sensory responsiveness are gaining increasing relevance. Researchers note the relationship of sensory responsiveness in children on the autism spectrum to their motor, cognitive and social development. Current research reports combines the responsiveness to sensory stimuli also with the development of pretend play. Aim of this study was to verify the relationship between the level of development of pretend play and the level of sensory responsiveness in children on the autism spectrum.
METHODS
A study was conducted in a group of 63 children with a diagnosis of autism spectrum aged from 3 years and 7 months to 9 years and 3 months using: Pretend Play subscale from the Theory of Mind Mechanism Scale and Sensory Experiences Questionnaire version 2.1.
RESULTS
The results revealed that elevated sensory hyporesponsiveness predicted low pretend play skills in the group of participating children.
CONCLUSION
The study verified the contribution of the level of sensory hyporesponsiveness to explaining the atypical development of pretend play in children on the autism spectrum.
Topics: Humans; Autism Spectrum Disorder; Male; Female; Child, Preschool; Play and Playthings; Child; Child Development; Theory of Mind
PubMed: 38918693
DOI: 10.1186/s11689-024-09551-y -
PloS One 2024Motor issues are frequently observed accompanying core deficits in autism spectrum disorder (ASD). Impaired motor behavior has also been linked to cognitive and social...
Motor issues are frequently observed accompanying core deficits in autism spectrum disorder (ASD). Impaired motor behavior has also been linked to cognitive and social abnormalities, and problems with predictive ability have been suggested to play an important, possibly shared, part across all these domains. Brain imaging of sensory-motor behavior is a promising method for characterizing the neurobiological foundation for this proposed key trait. The present functional magnetic resonance imaging (fMRI) developmental study, involving children/youth with ASD, typically developing (TD) children/youth, and neurotypical adults, will investigate brain activations during execution and observation of a visually guided, goal-directed sequential (two-step) manual task. Neural processing related to both execution and observation of the task, as well as activation patterns during the preparation stage before execution/observation will be investigated. Main regions of interest include frontoparietal and occipitotemporal cortical areas, the human mirror neuron system (MNS), and the cerebellum.
Topics: Humans; Magnetic Resonance Imaging; Child; Brain; Male; Adolescent; Female; Adult; Brain Mapping; Autism Spectrum Disorder; Movement; Autistic Disorder; Young Adult; Psychomotor Performance; Mirror Neurons
PubMed: 38913636
DOI: 10.1371/journal.pone.0296225 -
ELife Jun 2024Autism spectrum disorder (ASD) presents a range of challenges, including heightened sensory sensitivities. Here, we examine the idea that sensory overload in ASD may be...
Autism spectrum disorder (ASD) presents a range of challenges, including heightened sensory sensitivities. Here, we examine the idea that sensory overload in ASD may be linked to issues with efference copy mechanisms, which predict the sensory outcomes of self-generated actions, such as eye movements. Efference copies play a vital role in maintaining visual and motor stability. Disrupted efference copies hinder precise predictions, leading to increased reliance on actual feedback and potential distortions in perceptions across eye movements. In our first experiment, we tested how well healthy individuals with varying levels of autistic traits updated their mental map after making eye movements. We found that those with more autistic traits had difficulty using information from their eye movements to update the spatial representation of their mental map, resulting in significant errors in object localization. In the second experiment, we looked at how participants perceived an object displacement after making eye movements. Using a trans-saccadic spatial updating task, we found that those with higher autism scores exhibited a greater bias, indicating under-compensation of eye movements and a failure to maintain spatial stability during saccades. Overall, our study underscores efference copy's vital role in visuo-motor stability, aligning with Bayesian theories of autism, potentially informing interventions for improved action-perception integration in autism.
Topics: Humans; Male; Female; Autism Spectrum Disorder; Adult; Young Adult; Eye Movements; Psychomotor Performance; Visual Perception; Adolescent; Saccades; Autistic Disorder
PubMed: 38913073
DOI: 10.7554/eLife.94946 -
Frontiers in Psychiatry 2024Although some adults with autism spectrum disorder (ASD) require intensive and specialized ASD treatment, there is little research on how these adults experience the...
INTRODUCTION
Although some adults with autism spectrum disorder (ASD) require intensive and specialized ASD treatment, there is little research on how these adults experience the recovery process. Recovery is defined as the significant improvement in general functioning compared to the situation prior to treatment.
METHODS
This qualitative study describes the recovery process from the perspective of adults on the autism spectrum during intensive inpatient treatment. Semi-structured interviews (n = 15) were carried out and analyzed according to the principles of grounded theory.
RESULTS
Our results indicate that, given the specific characteristics of autism, therapeutic interventions and goal-oriented work cannot be carried out successfully, and the recovery process cannot begin, if no good working relationship has been established, and if care is not organized in ways that a person on the autism spectrum finds clear and predictable.
PubMed: 38911701
DOI: 10.3389/fpsyt.2024.1383138 -
International Journal of Nanomedicine 2024Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects social interaction and communication and can cause stereotypic behavior. Fullerenols, a...
BACKGROUND
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects social interaction and communication and can cause stereotypic behavior. Fullerenols, a type of carbon nanomaterial known for its neuroprotective properties, have not yet been studied for their potential in treating ASD. We aimed to investigate its role in improving autistic behaviors in BTBR TItpr3/J (BTBR) mice and its underlying mechanism, which could provide reliable clues for future ASD treatments.
METHODS
Our research involved treating C57BL/6J (C57) and BTBR mice with either 0.9% NaCl or fullerenols (10 mg/kg) daily for one week at seven weeks of age. We then conducted ASD-related behavioral tests in the eighth week and used RNA-seq to screen for vital pathways in the mouse hippocampus. Additionally, we used real-time quantitative PCR (RT-qPCR) to verify related pathway genes and evaluated the number of stem cells in the hippocampal dentate gyrus (DG) by Immunofluorescence staining.
RESULTS
Our findings revealed that fullerenols treatment significantly improved the related ASD-like behaviors of BTBR mice, manifested by enhanced social ability and improved cognitive deficits. Immunofluorescence results showed that fullerenols treatment increased the number of DCX and SOX2/GFAP cells in the DG region of BTBR mice, indicating an expanded neural progenitor cell (NPC) pool of BTBR mice. RNA-seq analysis of the mouse hippocampus showed that VEGFA was involved in the rescued hippocampal neurogenesis by fullerenols treatment.
CONCLUSION
In conclusion, our findings suggest that fullerenols treatment improves ASD-like behavior in BTBR mice by upregulating VEGFA, making nanoparticle- fullerenols a promising drug for ASD treatment.
Topics: Animals; Mice, Inbred C57BL; Mice; Fullerenes; Autism Spectrum Disorder; Cognitive Dysfunction; Disease Models, Animal; Male; Doublecortin Protein; Social Behavior; Behavior, Animal; Hippocampus; Vascular Endothelial Growth Factor A; Neuroprotective Agents; Neurogenesis; Autistic Disorder
PubMed: 38911505
DOI: 10.2147/IJN.S459511