ABSTRACT
La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)
The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)
Subject(s)
Humans , Child, Preschool , Child , Adolescent , Educational Technology , Autism Spectrum Disorder , Autistic DisorderABSTRACT
La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)
The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)
Subject(s)
Humans , Child, Preschool , Child , Adolescent , Educational Technology , Autism Spectrum Disorder , Autistic DisorderABSTRACT
BACKGROUND: Autism spectrum disorder (ASD) is a class of complex neurodevelopment disorders with high genetic heterogeneity. Long non-coding RNAs (lncRNAs) are vital regulators that perform specific functions within diverse cell types and play pivotal roles in neurological diseases including ASD. Therefore, exploring lncRNA regulation would contribute to deciphering ASD molecular mechanisms. Existing computational methods utilize bulk transcriptomics data to identify lncRNA regulation in all of samples, which could reveal the commonalities of lncRNA regulation in ASD, but ignore the specificity of lncRNA regulation across various cell types. RESULTS: Here, we present Cycle (Cell type-specific lncRNA regulatory network) to construct the landscape of cell type-specific lncRNA regulation in ASD. We have found that each ASD cell type is unique in lncRNA regulation, and more than one-third and all cell type-specific lncRNA regulatory networks are characterized as scale-free and small-world, respectively. Across 17 ASD cell types, we have discovered 19 rewired and 11 stable modules, along with eight rewired and three stable hubs within the constructed cell type-specific lncRNA regulatory networks. Enrichment analysis reveals that the discovered rewired and stable modules and hubs are closely related to ASD. Furthermore, more similar ASD cell types tend to be connected with higher strength in the constructed cell similarity network. Finally, the comparison results demonstrate that Cycle is a potential method for uncovering cell type-specific lncRNA regulation. CONCLUSION: Overall, these results illustrate that Cycle is a promising method to model the landscape of cell type-specific lncRNA regulation, and provides insights into understanding the heterogeneity of lncRNA regulation between various ASD cell types.
Subject(s)
Autism Spectrum Disorder , Gene Regulatory Networks , RNA, Long Noncoding , RNA, Long Noncoding/genetics , RNA, Long Noncoding/metabolism , Humans , Gene Regulatory Networks/genetics , Autism Spectrum Disorder/genetics , Autism Spectrum Disorder/metabolism , Computational Biology/methods , Autistic Disorder/geneticsABSTRACT
BACKGROUND: Autism Spectrum Disorder (ASD) has varying prevalence rates worldwide, often higher in culturally diverse populations. Cultural differences can affect autism symptom recognition. Language barriers and differing healthcare attitudes may delay diagnosis and intervention. Most autism screening tools were developed in Western, predominantly Caucasian populations, and their appropriateness in culturally and linguistically diverse (CALD) contexts remains uncertain. There is a lack of comprehensive data on the accuracy of these tools in identifying autism in culturally and linguistically diverse groups. Consequently, it is unclear whether current screening tools are culturally sensitive and appropriate. METHODS: A research protocol was registered in PROSPERO (CRD42022367308). A comprehensive search of literature published from inception to October 2022 was conducted using the following databases: PubMed, Medline Complete, Scopus, PsychInfo and CINAHL Complete. The articles were screened using pre-determined inclusion and exclusion criteria. Data extracted included participant demographics, screening tool psychometric properties (validity, reliability, accuracy) and acceptability. A narrative synthesis approach was used. RESULTS: From the initial retrieval of 2310 citations, 51 articles were included for analysis. The studies were conducted in 32 different countries with screening tools in the following languages: Chinese, Spanish, Korean, Turkish, Arabic, Kurdish, Persian, Serbian, Italian, French, Sinhala, Taiwanese, Finnish, Northern Soho, Albanian, German, Japanese, Vietnamese, Farsi, Greek and English. There was no data on acceptability of the screening tools in CALD populations. Validity, reliability, and accuracy ranged from poor to excellent with consistently high performance by screening tools devised within the populations they are intended for. CONCLUSIONS: The review evaluated autism screening tools in culturally diverse populations, with a focus on validity, reliability, and acceptability. It highlighted variations in the effectiveness of these tools across different cultures, with high performance by tools devised specifically for the intended population, emphasizing the need for culturally sensitive screening tools. Further research is needed to improve culturally specific, reliable autism screening tools for equitable assessment and intervention in diverse communities.
Subject(s)
Autism Spectrum Disorder , Cultural Diversity , Humans , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/ethnology , Child , Mass Screening/methods , Language , Reproducibility of ResultsABSTRACT
OBJECTIVES: This study was conducted to determine whether school-aged autistic youth received routine vaccines at a lower rate than their non-autistic peers. METHODS: In Nova Scotia (NS), Canada, vaccines routinely delivered in early adolescence are administered to Grade 7 students through a school-based Public Health vaccination program. NS youth eligible to receive Grade 7 vaccinations between 2011 and 2017 were included in this study. Autism spectrum disorder (ASD) diagnoses were determined from administrative health data. Rates of receipt of any Grade 7 vaccine and of individual vaccines were compared between autistic and non-autistic youth. Subgroup analyses included comparing Grade 7 vaccine receipt between autistic youth and their non-autistic siblings and early childhood vaccine receipt between autistic and non-autistic cohorts. RESULTS: The rates of receipt of any vaccine were 73% among 916 autistic youth and 82% among 49,599 non-autistic youth (adjusted relative risk = 0.91; 95% confidence interval = 0.87-0.95). Similar results were found for individual vaccines. Subgroup analyses revealed lower rates of Grade 7 vaccine receipt among autistic youth compared to among their non-autistic siblings. Rates of early childhood vaccine receipt did not differ between autistic and non-autistic cohorts. CONCLUSION: Autistic youth were under-vaccinated compared to their non-autistic peers for Grade 7 vaccinations. Lower vaccination rates in autistic youth than in their non-autistic siblings suggest that setting-related factors may contribute more to the under-vaccination of autistic youth than parental vaccine hesitancy. Barriers to vaccine uptake for school-aged autistic youth, including those unique to school-based vaccination programs, must be explored and addressed.
RéSUMé: OBJECTIF: Déterminer si les jeunes autistes d'âge scolaire reçoivent les vaccins de routine à un moindre taux que leurs pairs non autistes. MéTHODE: En Nouvelle-Écosse, au Canada, les vaccins systématiquement recommandés au début de l'adolescence sont administrés aux élèves de 7e année dans le cadre d'un programme de vaccination de santé publique en milieu scolaire. Notre étude a inclus les jeunes néo-écossais qui étaient admissibles à la vaccination en 7e année entre 2011 et 2017. Le diagnostic de trouble du spectre autistique (TSA) a été déterminé à partir des données administratives sur la santé. Nous avons comparé les taux de réception de n'importe quel vaccin en 7e année et de différents vaccins chez les jeunes autistes et non autistes. Nos analyses par sous-groupe ont consisté à comparer la réception des vaccins en 7e année chez les jeunes autistes et chez leurs frères et sÅurs non autistes et la réception des vaccins de la petite enfance dans les cohortes autiste et non autiste. RéSULTATS: Le taux de réception de n'importe quel vaccin était de 73 % chez les 916 jeunes autistes et de 82 % chez les 49 599 jeunes non autistes (risque relatif ajusté = 0,91; intervalle de confiance de 95% = 0,870,95). Nous avons observé des résultats semblables pour les différents vaccins. Les analyses par sous-groupe ont révélé des taux plus faibles de réception des vaccins en 7e année chez les jeunes autistes que chez leurs frères et sÅurs non autistes. Les taux de réception des vaccins de la petite enfance étaient les mêmes dans les cohortes autiste et non autiste. CONCLUSION: Les jeunes autistes étaient sous-vaccinés comparativement à leurs pairs non autistes pour ce qui est des vaccins administrés en 7e année. Les taux de vaccination plus faibles chez les jeunes autistes que chez leurs frères et sÅurs non autistes portent à croire que des facteurs liés au milieu pourraient contribuer davantage à la sous-vaccination des jeunes autistes que l'hésitation vaccinale parentale. Les obstacles à la vaccination des jeunes autistes d'âge scolaire, y compris ceux qui sont spécifiques aux programmes de vaccination en milieu scolaire, doivent être explorés et abordés.
ABSTRACT
Objective: To evaluate oral health care practices, health status, and dental treatment needs in children with Autism Spectrum Disorder (ASD). Methods: This cross-sectional study included 96 children diagnosed with ASD per the DSM-V criteria and 96 typically developing healthy children. The WHO form assessed oral health status and dental treatment needs. Results: Over 50 % of ASD children had mild/moderate autism, 35.4 % had severe autism, and 13.5 % had autistic traits. ASD children experienced more toothbrushing difficulties compared to non-ASD children. Based on Nyvad's criteria and decayed/filled teeth (dft) index, non-ASD children had higher caries prevalence than ASD children, indicating less need for restorative treatments in the ASD group. However, ASD children had poorer plaque scores than non-ASD children. A significantly higher percentage of ASD children exhibited harmful oral behaviors, including mouth breathing, lip biting, bruxism, nail biting, object biting, and self-injury (p < 0.001). ASD children also showed increased traumatic dental injuries compared to non-ASD children. Conclusion: Compared to non-ASD peers, children with ASD have lower dental caries prevalence and less need for restorations, yet poorer plaque control. They also demonstrate more frequent oral self-injuries. ASD status appears related to toothbrushing difficulties. These findings highlight the need for tailored oral health interventions for children with ASD.
ABSTRACT
BACKGROUND: Prader-Willi syndrome (PWS) is a congenital disease caused by a rare and generally non-inherited genetic disorder. The inability to recognise facial expressions of emotion is an apparent social cognition deficit in people diagnosed with PWS. The main objective of the present study is to compare the ability to recognise emotional facial expression, in both non-contextualised and contextualised scenarios, among the main subtypes of PWS and a control group. METHODS: The sample consisted of 46 children divided into three groups: deletion (n = 10), maternal uniparental disomy (mUPD) (n = 13) and control (n = 23). The protocol included the Facially Expressed Emotion Labeling and the Deusto-e-Motion 1.0. RESULTS: The control group recognised facial emotions more accurately and quickly in both non-contextualised and contextualised scenarios than children with PWS, regardless of genetic subtype. Despite no differences being detected between PWS subtypes when non-contextualised scenarios were analysed, in contextualised situations, a longer reaction time was observed in children with the mUPD subtype. CONCLUSIONS: This is the first study to assess the ability to recognise emotional facial expressions in contextualised situations among PWS subtypes and a control group. The findings suggest that some of the social cognitive deficits evidenced in children with mUPD PWS may be similar to those in autism spectrum disorder.
ABSTRACT
Abnormalities in gamma-aminobutyric acid (GABA)ergic neurotransmission play a role in the pathogenesis of autism, although the mechanisms responsible for alterations in specific brain regions remain unclear. Deficits in social motivation and interactions are core symptoms of autism, likely due to defects in dopaminergic neural pathways. Therefore, investigating the morphology and functional roles of GABAergic neurons within dopaminergic projection areas could elucidate the underlying etiology of autism. The aim of this study was to (1) compare the morphology and arborization of glutamate decarboxylase (GAD)-positive neurons from the midbrain tegmentum; (2) evaluate synaptic activity in primary neurons from the striatum; and (3) assess GABAergic postsynaptic puncta in the ventral striatum of wild-type (WT) and Shank3-deficient mice. We found a significant decrease in the number of short neurites in GAD positive primary neurons from the midbrain tegmentum in Shank3-deficient mice. The application of a specific blocker of GABAA receptors (GABAAR) revealed significantly increased frequency of spontaneous postsynaptic currents (sPSCs) in Shank3-deficient striatal neurons compared to their WT counterparts. The mean absolute amplitude of the events was significantly higher in striatal neurons from Shank3-deficient compared to WT mice. We also observed a significant reduction in gephyrin/GABAAR γ2 colocalization in the striatum of adult male Shank3-deficient mice. The gene expression of collybistin was significantly lower in the nucleus accumbens while gephyrin and GABAAR γ2 were lower in the ventral tegmental area (VTA) in male Shank3-deficient compared to WT mice. In conclusion, Shank3 deficiency leads to alterations in GABAergic neurons and impaired GABAergic function in dopaminergic brain areas. These changes may underlie autistic symptoms, and potential interventions modulating GABAergic activity in dopaminergic pathways may represent new treatment modality.
Subject(s)
Corpus Striatum , GABAergic Neurons , Mesencephalon , Nerve Tissue Proteins , Synapses , Animals , GABAergic Neurons/metabolism , Nerve Tissue Proteins/metabolism , Nerve Tissue Proteins/deficiency , Mesencephalon/metabolism , Mesencephalon/pathology , Synapses/metabolism , Corpus Striatum/metabolism , Corpus Striatum/pathology , Biomarkers/metabolism , Microfilament Proteins/metabolism , Microfilament Proteins/deficiency , Glutamate Decarboxylase/metabolism , Cell Shape , gamma-Aminobutyric Acid/metabolism , Mice, Inbred C57BL , Mice , Male , Mice, Knockout , Receptors, GABA-A/metabolism , Membrane ProteinsABSTRACT
Altered sensory processing especially in the auditory system is considered a typical observation in children with autism spectrum disorder (ASD). Auditory temporal processing is known to be impaired in ASD children. Although research suggests that auditory temporal processing abnormalities could be responsible for the core aspects of ASD, few studies have examined early time processing and their results have been conflicting. The present event-related potential (ERP) study investigated the early neural responses to duration and inter-stimulus interval (ISI) deviants in nonspeech contexts in children with ASD and a control group of typically developing (TD) children matched in terms of age and IQ. A passive auditory oddball paradigm was employed to elicit the mismatch negativity (MMN) for change detection considering both the duration and ISI-based stimulus. The MMN results showed that the ASD group had a relatively diminished amplitude and significant delayed latency in response to duration deviants. The findings are finally discussed in terms of hyper-hyposensitivity of auditory processing and the fact that the observed patterns may potentially act as risk factors for ASD development within the research domain criteria (RDoC) framework.
ABSTRACT
The present study analyzed the association between anxiety, repetitive behavior and parental stress in individuals with autism from Spain (n = 60, mean age = 8.52, SD = 4.41) and Colombia (n = 58, mean age = 10.29, SD = 4.98). Similarly, differences in anxiety, repetitive behavior and parental stress between both countries were analyzed. Outcomes revealed a strong relationship between anxiety and repetitive behavior in both populations. Furthermore, moderate positive associations were observed between anxiety, repetitive behavior and parental stress in the Spanish sample. However, parental stress was found to be moderately and negatively related with anxiety and repetitive behavior in the Colombian sample. Finally, no differences were found in anxiety and repetitive behavior between countries, but differences did emerge for parental stress which was found to be higher in the Colombian sample. In conclusion, differences in parental stress may be due to regional differences in socio-health resources, socio-economics, parenting styles, etc.
ABSTRACT
Autism spectrum disorder (ASD) involves social communication difficulties and repetitive behaviors, and it has a growing prevalence worldwide. Symptoms include cognitive impairments, gastrointestinal (GI) issues, feeding difficulties, and psychological problems. A significant concern in ASD is food selectivity, leading to nutrient deficiencies. Common GI issues in ASD, such as constipation and irritable bowel syndrome, stem from abnormal gut flora and immune system dysregulation. Sensory sensitivities and behavioral challenges exacerbate these problems, correlating with neurological symptom severity. Children with ASD also exhibit higher oxidative stress due to low antioxidant levels like glutathione. Therapeutic diets, including ketogenic, high-antioxidant, gluten-free and casein-free, and probiotic-rich diets, show potential in managing ASD symptoms like behavior, communication, GI issues, and oxidative stress, though the evidence is limited. Various studies have focused on different populations, but there is increasing concern about the impact among children. This review aims to highlight the food preferences of the ASD population, analyze the effect of the physicochemical and nutritional properties of foods on the selectivity in its consumption, GI problems, and antioxidant deficiencies in individuals with ASD, and evaluate the effectiveness of therapeutic diets, including diets rich in antioxidants, gluten-free and casein-free, ketogenic and essential fatty acids, and probiotic-rich diets in managing these challenges.
ABSTRACT
Background: Catatonia is a complex syndrome with prominent psychomotor, cognitive, and affective manifestations. Among the commonly described manifestations of catatonia are mannerisms and stereotypies. Kahlbaum, who coined the term catatonia, described several presentations of mannerisms and stereotypies as complex behaviors in his monograph. However, most of the subsequent psychiatric literature has described both phenomena in the context of simple motor movements or actions. Study design or method: We identified complex behavioral presentations of mannerisms and stereotypies described by Kahlbaum in his monograph. We summarize the development and use of mannerisms and stereotypies as psychiatric terminology since Kahlbaum, emphasizing the spectrum of behavior captured early in this usage. We list the inconsistent and interchangeable use of these terms in subsequent literature and describe recent examples of complex behavioral manifestations of mannerisms and stereotypies in the context of catatonia. Study results: We propose a new framework for mannerisms and stereotypies that utilizes descriptive psychopathology factors in various normative references, the context of the behavior examined, and critical pathological processes identified in mannerisms and stereotypies to identify and describe complex manifestations of these phenomena. Conclusion: Catatonia continues to remain under-recognized and under-treated. Our current diagnostic tools can make mannerisms and stereotypies complex and challenging to recognize. We suggest defining stereotypies as non-contextual repetitive activities while mannerisms as non-contextual peculiarities of activities. Utilizing our proposed framework and definitions can improve the description, recognition, and treatment of catatonia.
ABSTRACT
Autism spectrum disorder (ASD) is a neurodevelopmental abnormality that impairs social communication. The human gut microbiome (GM) influences a variety of local processes, including dysbiosis and the defense against pathogenic microorganisms. The aim of the present study was to categorize and identify molecular biomarkers for ASD. In the present study, metagenomics whole genome shotgun sequencing was used to identify the gut microbiota in autistic individuals. Fecal samples from four children with ASD and four healthy control siblings, aged 3-10 years old, were examined using bioinformatics analysis. A total of 673,091 genes were cataloged, encompassing 25 phyla and 2 kingdoms based on the taxonomy analysis. The results revealed 257 families, 34 classes, 84 orders, and 1,314 genera among 4,339 species. The top 10 most abundant genes and corresponding functional genes for each group were determined after the abundance profile was screened. The results showed that children with ASD had a higher abundance of certain gut microbiomes than their normal siblings and vice versa. The phyla Firmicutes and Proteobacteria were the most abundant in ASD. The Thermoanaerobacteria class was also restricted to younger healthy individuals. Moreover, the Lactobacillaceae family was more abundant in children with ASD. Additionally, it was discovered that children with ASD had a higher abundance of the Bacteroides genus and a lower abundance of the Bifidobacterium and Prevotella genera. In conclusion, there were more pathogenic genera and species and higher levels of biomass, diversity and richness in the GM of children with ASD.
ABSTRACT
The global prevalence of autism spectrum disorder (ASD) is increasing. ASD manifests with persistent social communication and interaction challenges, limited interests, and repetitive behaviors. As the scientific literature on ASD in adults varies greatly, mapping the recent global research becomes valuable for enhancing comprehension of this subject. This study aims to map recent global scientific publications on ASD in adults. Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses, bibliometrics, and network analyses, we assessed 850 articles indexed in the Web of Science Core Collection between 2013 and 2022 assigned to the research area of psychology. Findings indicate an annual average growth of 11.69%. Key keywords include Emotion, Anxiety, and Depression, with Anxiety, Depression, and Mental Health as central nodes in the network. Rehabilitation, Behavioral Sciences, and Psychiatry frequently co-occur, and Psychology, Psychiatry, and 'Neurosciences and Neurology' are central nodes in the network of research areas. The United States of America and the United Kingdom lead in publications, with the United Kingdom being the most central country in the network. King's College London and the University of California are the main research organizations, with King's College London as the central node in the network. The American Psychiatric Association's DSM-5-TR was the most cited reference in the period. This comprehensive analysis contributes to understanding the landscape of ASD research in adults, providing insights for future research and fostering collaborations.
ABSTRACT
Aim: Autism spectrum disorder (ASD) is difficult to diagnose objectively due to its heterogeneous and complex manifestations. This study aimed to objectively characterize the behavioral phenotypes of ASD children by exploring the multiscale behavioral dynamics. Methods: We applied behavioral organization (BO) and multiscale sample entropy (MSE) analyses to physical activity data collected from ASD and typically developing children, using wearable monitors in their daily life. We also examined their correlation with auditory startle response measures and clinical questionnaires, including the Social Responsiveness Scale (SRS) and the Strengths and Difficulties Questionnaire (SDQ). Results: A significant decrease in MSE at timescales longer than 6 min was observed in ASD children, suggesting decreased irregularity or unpredictability, potentially linked to repetitive behaviors or stereotyped patterns commonly observed in ASD. Additionally, an increase in MSE positively correlated with prepulse inhibition levels, indicating its relationship with sensorimotor gating. Moreover, the observed significant negative correlation with the total difficulty score of SDQ substantiates MSE's potential as an objective metric for assessing general mental health problems associated with ASD. Conclusion: Multiscale analysis enhances the understanding of ASD's behavioral dynamics, providing valuable metrics for real-world assessments.
ABSTRACT
According to the DSM-5, neurodevelopmental disorders represent a group of heterogeneous conditions, with onset during the developmental period, characterized by an alteration of communication and social skills, learning, adaptive behavior, executive functions, and psychomotor skills. These deficits determine an impairment of personal, social, scholastic, or occupational functioning. Neurodevelopmental disorders are characterized by an increased incidence and a multifactorial etiology, including genetic and environmental components. Data largely explain the role of genetic and environmental factors, also through epigenetic modifications such as DNA methylation and miRNA. Despite genetic factors, nutritional factors also play a significant role in the pathophysiology of these disorders, both in the prenatal and postnatal period, underscoring that the control of modifiable factors could decrease the incidence of neurodevelopmental disorders. The preventive role of nutrition is widely studied as regards many chronic diseases, such as diabetes, hypertension, and cancer, but actually we also know the effects of nutrition on embryonic brain development and the influence of prenatal and preconceptional nutrition in predisposition to various pathologies. These factors are not limited only to a correct caloric intake and a good BMI, but rather to an adequate and balanced intake of macro and micronutrients, the type of diet, and other elements such as exposure to heavy metals. This review represents an analysis of the literature as regards the physiopathological mechanisms by which food influences our state of health, especially in the age of development (from birth to adolescence), through prenatal and preconceptional changes, underlying how controlling these nutritional factors should improve mothers' nutritional state to significantly reduce the risk of neurodevelopmental disorders in offspring. We searched key words such as "maternal nutrition and neurodevelopmental disorders" on Pubmed and Google Scholar, selecting the main reviews and excluding individual cases. Therefore, nutrigenetics and nutrigenomics teach us the importance of personalized nutrition for good health. So future perspectives may include well-established reference values in order to determine the correct nutritional intake of mothers through food and integration.
ABSTRACT
BACKGROUND: Autism spectrum disorder (ASD) has seen a rise in prevalence, and the immune system's role in brain development is increasingly recognized. This study investigates the relationship between immune dysregulation and ASD by examining serum concentrations of interleukin 6 (IL-6), interleukin 8 (CXCL8), and tumor necrosis factor alpha (TNF-alpha) in children. METHODS: Serum samples from 45 children with ASD and 30 controls, aged 2 to 12 years, were analyzed using electrochemiluminescence, chemiluminescent microparticle immunoassay, and chemiluminescent immunoassay. ASD symptoms were assessed using the Autism Spectrum Rating Scale (ASRS) and Social Communication Questionnaire (SCQ). RESULTS: No significant correlation was observed between CXCL8 levels and ASD. IL-6 levels showed a trend toward elevation in boys with ASD. TNF-alpha levels were significantly higher in children with ASD under 5 years compared to older children and controls, though no correlation with symptom severity was found. CONCLUSIONS: TNF-alpha may be a potential biomarker for early ASD detection, especially in younger children. Further research on larger cohorts is needed to understand the role of immune dysregulation in ASD.
ABSTRACT
Iron deficiency (ID) and restlessness are associated with sleep/wake-disorders (e.g., restless legs syndrome (RLS)) and neurodevelopmental disorders (attention deficit/hyperactivity and autism spectrum disorders (ADHD; ASD)). However, a standardized approach to assessing ID and restlessness is missing. We reviewed iron status and family sleep/ID history data collected at a sleep/wake behavior clinic under a quality improvement/quality assurance project. Restlessness was explored through patient and parental narratives and a 'suggested clinical immobilization test'. Of 199 patients, 94% had ID, with 43% having a family history of ID. ADHD (46%) and ASD (45%) were common conditions, along with chronic insomnia (61%), sleep-disordered breathing (50%), and parasomnias (22%). In unadjusted analysis, a family history of ID increased the odds (95% CI) of familial RLS (OR: 5.98, p = 0.0002, [2.35-15.2]), insomnia/DIMS (OR: 3.44, p = 0.0084, [1.37-8.64]), and RLS (OR: 7.00, p = 0.01, [1.49-32.93]) in patients with ADHD, and of insomnia/DIMS (OR: 4.77, p = 0.0014, [1.82-12.5]), RLS/PLMS (OR: 5.83, p = 0.009, [1.54-22.1]), RLS (OR: 4.05, p = 0.01, [1.33-12.3]), and familial RLS (OR: 2.82, p = 0.02, [1.17-6.81]) in patients with ASD. ID and restlessness were characteristics of ADHD and ASD, and a family history of ID increased the risk of sleep/wake-disorders. These findings highlight the need to integrate comprehensive blood work and family history to capture ID in children and adolescents with restless behaviors.
Subject(s)
Attention Deficit Disorder with Hyperactivity , Autism Spectrum Disorder , Neurodevelopmental Disorders , Restless Legs Syndrome , Humans , Female , Male , Child , Restless Legs Syndrome/epidemiology , Adolescent , Sleep Initiation and Maintenance Disorders , Child, Preschool , Anemia, Iron-Deficiency/epidemiology , Iron Deficiencies , Mental HealthABSTRACT
BACKGROUND: Driven by the complex multifactorial etiopathogenesis of autism spectrum disorder (ASD), a growing interest surrounds the disturbance in folate-dependent one-carbon metabolism (OCM) in the pathology of ASD, whereas the evidence remained inconclusive. OBJECTIVES: The study aims to investigate the association of OCM metabolism and ASD and characterize differential OCM metabolites among children with ASD. METHODS: Plasma OCM metabolites were investigated in 59 children with ASD and 40 neurotypical children using ultra-performance liquid chromatography tandem mass spectrometry technology. Differences (significance level < 0.001) were tested in each OCM metabolite between cases and controls. Multivariable models were also performed after adjusting for covariates. RESULTS: Ten out of 22 examined OCM metabolites were significantly different in children with ASD, compared with neurotypical controls. Specifically, S-adenosylmethionine (SAM), oxidized glutathione (GSSG), and glutathione (GSH) levels were increased, whereas S-adenosylhomocysteine (SAH), choline, glycine, L-serine, cystathionine, L-cysteine, and taurine levels were significantly decreased. Children with ASD showed significantly higher SAM/SAH ratio (3.87 ± 0.93 compared with 2.00 ± 0.76, P = 0.0001) and lower GSH/GSSG ratio [0.58 (0.46, 0.81) compared with 1.71 (0.93, 2.99)] compared with the neurotypical controls. Potential interactive effects between SAM/SAH ratio, taurine, L-serine, and gastrointestinal syndromes were further observed. CONCLUSIONS: OCM disturbance was observed among children with ASD, particularly in methionine methylation and trans-sulfuration pathways. The findings add valuable insights into the mechanisms underlying ASD and the potential of ameliorating OCM as a promising therapeutic of ASD, which warrant further validation.
ABSTRACT
Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects various regions of the brain. Repetitive transcranial magnetic stimulation (rTMS) is a safe and non-invasive method utilized for stimulating different brain areas. Our objective is to alleviate ASD symptoms using high-frequency rTMS (HF-rTMS) in a rat model of ASD induced by valproic acid (VPA). Methods: In this investigation, we applied HF-rTMS for ASD treatment, focusing on the hippocampus. Behavioral assessments encompassed core ASD behaviors, as well as memory and recognition tests, alongside evaluations of anxiety and stress coping strategies. Additionally, we analyzed oxidative stress and a related inflammation marker, as well as other biochemical components. We assessed brain-derived neurotrophic factor (BDNF), Microtubule-associated protein-2 (MAP-2), and synaptophysin (SYN). Finally, we examined dendritic spine density in the CA1 area of the hippocampus. Results: The results demonstrated that HF-rTMS successfully mitigated ASD symptoms, reducing oxidative stress and improving various biochemical factors, along with an increase in dendritic spine density. Discussion: Collectively, our data suggests that HF-rTMS may effectively alleviate ASD symptoms. These findings could be valuable in clinical research and contribute to a better understanding of the mechanisms underlying ASD.