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Genes Feb 2023Neurodevelopmental Disorders (NDs) are a heterogeneous group of disorders and are considered multifactorial diseases with both genetic and environmental components....
Neurodevelopmental Disorders (NDs) are a heterogeneous group of disorders and are considered multifactorial diseases with both genetic and environmental components. Epigenetic dysregulation driven by adverse environmental factors has recently been documented in neurodevelopmental disorders as the possible etiological agent for their onset. However, most studies have focused on the epigenomes of the probands rather than on a possible epigenetic dysregulation arising in their mothers and influencing neurodevelopment during pregnancy. The aim of this research was to analyze the methylation profile of four well-known genes involved in neurodevelopment (, , and ) in the mothers of forty-five age-matched AS (Asperger Syndrome), ADHD (Attention Deficit Hyperactivity Disorder) and typically developing children. We found a significant increase of methylation at the promoter of the and genes in AS mothers compared to ADHD and healthy control mothers. For the gene, promoter methylation was significantly higher in AS mothers compared to healthy control mothers only. The observed dysregulation in AS mothers could potentially contribute to the affected condition in their children deserving further investigation.
Topics: Child; Female; Pregnancy; Humans; Risk Factors; Neurodevelopmental Disorders; Mothers; Attention Deficit Disorder with Hyperactivity; Epigenesis, Genetic
PubMed: 36980856
DOI: 10.3390/genes14030585 -
Neurology International Mar 2023Autism spectrum disorder (ASD) is a central nervous system (CNS) neurodevelopmental disorder that includes autism, pervasive developmental disorder, and Asperger's...
Hesperetin Ameliorates Inhibition of Neuronal and Oligodendroglial Cell Differentiation Phenotypes Induced by Knockdown of Rab2b, an Autism Spectrum Disorder-Associated Gene Product.
Autism spectrum disorder (ASD) is a central nervous system (CNS) neurodevelopmental disorder that includes autism, pervasive developmental disorder, and Asperger's syndrome. ASD is characterized by repetitive behaviors and social communication deficits. ASD is thought to be a multifactorial disorder with a range of genetic and environmental factors/candidates. Among such factors is the rab2b gene, although it remains unclear how Rab2b itself is related to the CNS neuronal and glial developmental disorganization observed in ASD patients. Rab2 subfamily members regulate intracellular vesicle transport between the endoplasmic reticulum and the Golgi body. To the best of our knowledge, we are the first to report that Rab2b positively regulates neuronal and glial cell morphological differentiation. Knockdown of Rab2b inhibited morphological changes in N1E-115 cells, which are often used as the neuronal cell differentiation model. These changes were accomplished with decreased expression levels of marker proteins in neuronal cells. Similar results were obtained for FBD-102b cells, which are used as the model of oligodendroglial cell morphological differentiation. In contrast, knockdown of Rab2a, which is another Rab2 family member not known to be associated with ASD, affected only oligodendroglial and not neuronal morphological changes. In contrast, treatment with hesperetin, a citrus flavonoid with various cellular protective effects, in cells recovered the defective morphological changes induced by Rab2b knockdown. These results suggest that knockdown of Rab2b inhibits differentiation in neuronal and glial cells and may be associated with pathological cellular phenotypes in ASD and that hesperetin can recover their phenotypes at the in vitro level at least.
PubMed: 36976668
DOI: 10.3390/neurolint15010025 -
Molecular Autism Mar 2023Suicidality is highly prevalent in autistic people without co-occurring intellectual disabilities, and high autistic traits are found in adults who have attempted... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Suicidality is highly prevalent in autistic people without co-occurring intellectual disabilities, and high autistic traits are found in adults who have attempted suicide. However, prevalence rates for both autistic and possibly autistic people have not been synthesised meta-analytically.
AIMS
To (1) calculate pooled prevalence estimates of suicidality in autistic people and possibly autistic people without co-occurring intellectual disability; (2) evaluate the influence of participant and study level characteristics on heterogeneity; and (3) determine the quality of evidence.
METHODS
Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PsycINFO, Embase, MEDLINE and Web of Science were systematically searched from 1992 to January 25, 2022. Empirical quantitative studies reporting prevalence of suicidal ideation, suicide plans, or suicide attempts and behaviours were considered for inclusion. Random effects models were used to estimate pooled prevalence of each suicidality outcome with 95% confidence intervals. Heterogeneity was explored using sensitivity and moderator analyses.
RESULTS
Data from 48,186 autistic and possibly autistic participants in 36 primary studies were meta-analysed. Pooled prevalence of suicidal ideation was 34.2% (95% CI 27.9-40.5), suicide plans 21.9% (13.4-30.4), and suicidal attempts and behaviours 24.3% (18.9-29.6). High levels of heterogeneity (I > 75) were observed in all three analyses. Estimates did not differ between autistic or possibly autistic samples. Geographical location (p = 0.005), transgender or gender non-conforming samples (p < 0.001) and type of report (p < 0.001) significantly moderated suicidal ideation, whereas age group (p = 0.001) and measure of suicidality (p = 0.001) significantly moderated suicide plans. There was a significant association between the proportion of male participants and prevalence of suicide plans, with a decrease in the proportion of males for every unit change of suicide plan prevalence (p = 0.013). No variables were found to moderate estimates of suicide attempts and behaviours.
CONCLUSIONS
The results confirm suicidality is highly prevalent in both autistic and possibly autistic people without co-occurring intellectual disability and highlights potential moderators. Possibly autistic individuals require more attention in clinical and research considerations going forward to further understand and prevent suicide in both groups.
Topics: Adult; Humans; Male; Suicidal Ideation; Intellectual Disability; Autistic Disorder; Suicide; Suicide, Attempted
PubMed: 36922899
DOI: 10.1186/s13229-023-00544-7 -
Frontiers in Psychiatry 2023Autism spectrum disorder (ASD) is one the most disabling developmental disorders, imposing an extremely high economic burden. Obtaining as accurate prevalence estimates...
UNLABELLED
Autism spectrum disorder (ASD) is one the most disabling developmental disorders, imposing an extremely high economic burden. Obtaining as accurate prevalence estimates as possible is crucial to guide governments in planning policies for identification and intervention for individuals with ASD and their relatives. The precision of prevalence estimates can be heightened by summative analyses of the data collected around the world. To that end, we conducted a three-level mixed-effects meta-analysis. A systematic search of the Web of Science, PubMed, EMBASE, and PsycINFO databases from 2000 up to 13 July 2020 was performed, and reference lists of previous reviews and existing databases of prevalence studies were screened. Overall, 79 studies were included in the analysis of ASD and 59-in the analysis of previously existing relevant diagnoses: 30 for Autistic Disorder (AD), 15 for Asperger Syndrome (AS), and 14 for Atypical Autism (AA) and Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS); these research reports covered the period from 1994 to 2019. Pooled prevalence estimates were 0.72% (95% CI = 0.61-0.85) for ASD, 0.25% (95% CI = 0.18-0.33) for AD, 0.13% (95% CI = 0.07-0.20) for AS, and 0.18% (95% CI = 0.10-0.28) for the combined group of AA and PDD-NOS. Estimates were higher (1) for the studies that used records-review surveillance rather than other designs; (2) in North America compared with other geographical regions; and (3) in high-income compared with lower-income countries. The highest prevalence estimates were registered in the USA. There was an increase in autism prevalence estimates over time. The prevalence was also significantly higher for children aged between 6 and 12 years compared to children under the age of 5 and over the age of 13 years.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42019131525, identifier CRD42019131525.
PubMed: 36846240
DOI: 10.3389/fpsyt.2023.1071181 -
Genes Jan 2023Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the...
Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical criteria are not well defined and the etiology is heterogeneous and mostly unknown. Like in typical autism spectrum disorders (ASD), the genetic background plays a crucial role in AS, and often an almost mendelian segregation can be observed in some families. We performed a whole exome sequencing (WES) in three relatives of a family with vertical transmission of AS-ASD to identify variants in candidate genes segregating with the phenotype. Variant p.(Cys834Ser) in the gene was the only one segregating among all the affected family members. This gene encodes a single-strand DNA binding factor, which mediates the recruitment of genome maintenance proteins to sites of replication stress. Replication stress and genome instability have been reported recently in neural progenitor cells derived from ASD patients, leading to a disruption of long neural genes involved in cell-cell adhesion and migration. We propose as a new gene that when mutated could represent a predisposing factor to AS-ASD.
Topics: Humans; Asperger Syndrome; Autism Spectrum Disorder; Proteins; Intellectual Disability; Phenotype
PubMed: 36833228
DOI: 10.3390/genes14020301 -
International Journal of Environmental... Jan 2023Mental health could worsen in children and adolescents with autism spectrum disorder during the COVID-19 pandemic. In addition, their parents could be more at risk for...
Mental health could worsen in children and adolescents with autism spectrum disorder during the COVID-19 pandemic. In addition, their parents could be more at risk for an increase in anxiety and depression symptomatology. This study aims to understand the adaptation and the psychosocial well-being in a sample of 16 males aged 10-21 years old with Asperger's syndrome after the quarantine for COVID-19 when they return to school and partially to their activities in September 2020. The adopted approach is multi-informant with a battery of questionnaires on psychological health and adaptation given by a secure online web data Qualtrics both to adolescents and also to their parents. Paralleling matched peers with typical developments were assessed by adopting the same methodology. The results evidenced several difficulties in psychological health in population with Asperger's syndrome, especially in anxiety and socialization. Adaptation is put in crisis, even if they reported a good comprehension and adoption of the right behaviors anti-COVID-19. Parents of children with Asperger's syndrome reported similar psychological difficulties and general health to those of the group of children typically developing. Some clinical indications could be discussed for psychologists who follow children and adolescents with Asperger's syndrome.
Topics: Male; Humans; Child; Adolescent; Young Adult; Adult; Asperger Syndrome; Autism Spectrum Disorder; Pandemics; COVID-19; Socialization
PubMed: 36767499
DOI: 10.3390/ijerph20032132 -
Health Economics May 2023Do movies reduce stigma, increasing healthcare product choices offered by firms? We provide causal evidence on this question in the context of Indian pharmaceutical...
Do movies reduce stigma, increasing healthcare product choices offered by firms? We provide causal evidence on this question in the context of Indian pharmaceutical markets. For unpacking these effects, we use an exogenous shock to the market due to the release of a Bollywood blockbuster movie - My Name is Khan (MNIK) where the protagonist, superstar Shahrukh Khan, suffers from Asperger's Syndrome (AS). Using a difference-in-differences design, we find a positive and statistically significant effect of MNIK (between 14% and 22% increase in variety sold and prescribed) on product differentiation and choices in the market for antipsychotic medicines used to clinically treat AS. Results are consistent using alternative controls, a placebo treatment-based test and with a variety of other robustness checks. Our findings document likely for the first-time, supply side responses to edutainment and suggests potential associated welfare effects in healthcare markets characterized by sticky demand. Implications for global health and public policy given worldwide concerns around a mental wellness epidemic with Covid-19 are discussed.
Topics: Humans; Motion Pictures; COVID-19; Drug Industry
PubMed: 36727570
DOI: 10.1002/hec.4653 -
Ugeskrift For Laeger Jan 2023
Topics: Humans; Asperger Syndrome; Bipolar Disorder
PubMed: 36636938
DOI: No ID Found -
Frontiers in Psychology 2022To identify the research hotspots on cognitive function in developmental coordination disorder (DCD) in recent years, predict the research frontier and development...
OBJECTIVE
To identify the research hotspots on cognitive function in developmental coordination disorder (DCD) in recent years, predict the research frontier and development trend, and provide more perspectives for the study of the DCD population.
METHODS
Using CiteSpace and VOSviewer software to draw charts, 1,082 pieces of literature about DCD and cognitive function in the Web of Science core collection database from 2010 to 2022 were visually analyzed.
RESULTS AND CONCLUSION
Interest in the cognitive function of DCD has been on the rise in the past 10 years. Over 40 countries and regions, 117 institutions and 200 researchers have participated in the corresponding research, mainly in the United States, and their institutions have published more highly influential results. The hot keywords are DCD, children, attention, working memory, performance, and attention-deficit/hyperactivity disorder (ADHD), and the main research hot topics include functional performance, population, cognitive psychology. The research directions include "DCD," "Asperger syndrome," "memory," "infant," "clumsiness," "neurodevelopmental disorder," "occupational therapy," "preschool children," "motor competence," "model," and "online control." Future research should focus on motor imagery and intrinsic models and use more neurophysiological techniques to reveal the cognitive characteristics of children with DCD and develop intervention programs.
PubMed: 36562047
DOI: 10.3389/fpsyg.2022.1040208 -
Cureus Nov 2022A variant of autism spectrum disorder (ASD) known as Asperger syndrome (AS) is characterized by severe issues with interpersonal, verbal, and nonverbal... (Review)
Review
A variant of autism spectrum disorder (ASD) known as Asperger syndrome (AS) is characterized by severe issues with interpersonal, verbal, and nonverbal communication as well as restricted and repetitive patterns of behavior and activities. Although there is no known cause for ASD, various genetic as well as non-genetic risk factors that may act either alone or in combination to induce ASD have been identified. The occurrence of ASD has been increasing worldwide. Co-occurring neuropsychological diseases are frequently present as well. The premise for diagnosis is the observation of abnormal conduct, with diagnostic criteria emphasizing limitations in social interaction and communication as well as constrained, repetitive behavioral patterns, activities, or hobbies. The degree of the illness and the presence of intellectual impairment have a significant impact on the prognosis. Like autism, Asperger's can neither be prevented nor treated. There is no specific medical therapy that can effectively cure all of the symptoms of autism. However, medications may be used as adjuvant therapy for maladaptive behaviors and co-occurring mental problems. The treatment aims to reduce core impairments, increase functional ability, and reduce harmful behaviors that could limit functional skills. It is crucial to provide proper care, establish supportive networks for individuals who are affected and their families, and use effective therapies to enhance functioning and results.
PubMed: 36514569
DOI: 10.7759/cureus.31395