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Gene Dec 2023Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and deficits in communication and social interactions. To date,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and deficits in communication and social interactions. To date, numerous studies have investigated the associations between genetic variants and ASD risk. However, the results of these published studies lack a clear consensus. In the present study, we performed a systematic review on the association between genetic variants and ASD risk. Meanwhile, we conducted a meta-analysis on available data to identify the association between the single nucleotide polymorphisms (SNPs) of candidate genes and ASD risk.
METHODS
We systematically searched public databases including English and Chinese from their inception to August 1, 2022. Two independent reviewers extracted data and assessed study quality. Odds ratio and 95 % confidence interval were used as effect indexes to evaluate the association between the SNPs of candidate genes and the risk of ASD. Heterogeneity was explored through subgroup, sensitivity, and meta-regression analyses. Publication bias was assessed by using Egger's and Begg's tests for funnel plot asymmetry. In addition, TSA analysis were performed to confirm the study findings.
RESULTS
We summarized 84 SNPs of 32 candidate genes from 81 articles included in the study. Subsequently, we analyzed 16 SNPs of eight genes by calculating pooled ORs, and identified eight significant SNPs of contactin associated protein 2 (CNTNAP2), methylentetrahydrofolate reductase (MTHFR), oxytocin receptor (OXTR), and vitamin D receptor (VDR). Results showed that seven SNPs, including the CNTNAP2 rs2710102 (homozygote, heterozygote, dominant and allelic models) and rs7794745 (heterozygote and dominant models), MTHFR C677T (homozygote, heterozygote, dominant, recessive and allelic models) and A1298C (dominant and allelic models), OXTR rs2254298 (homozygote and recessive models), VDR rs731236 (homozygote, dominant, recessive and allelic models) and rs2228570 (homozygote and recessive models), were showed to be correlated with an increased ASD risk. By contrast, the VDR rs7975232 was correlated with a decreased the risk of ASD under the homozygote and allelic models.
CONCLUSION
Our study summarized research evidence on the genetic variants of ASD and provides a broad and detailed overview of ASD risk genes. The C677T and A1298C polymorphisms of MTHFR, rs2710102 and rs7794745 polymorphisms of CNTNAP2, rs2254298 polymorphism of OXTR, and rs731236 and rs2228570 polymorphisms of VDR were genetic risk factors. The rs7975232 polymorphism of VDR was a genetic protective factor for ASD. Our study provides novel clues to clinicians and healthcare decision-makers to predict ASD susceptibility.
Topics: Humans; Autism Spectrum Disorder; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Alleles; Heterozygote; Methylenetetrahydrofolate Reductase (NADPH2)
PubMed: 37598788
DOI: 10.1016/j.gene.2023.147723 -
Medical Journal of the Islamic Republic... 2023Due to the prevalence of autism spectrum disorder (ASD), these children must be screened as soon as possible and receive the necessary and appropriate treatment. The... (Review)
Review
BACKGROUND
Due to the prevalence of autism spectrum disorder (ASD), these children must be screened as soon as possible and receive the necessary and appropriate treatment. The purpose of this study was to examine all the ASD screening tools and examine their psychometric properties in available languages.
METHODS
This was a systematic review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to review the articles published between 2000 and 2023 and were published in PubMed, EMBASE, ProQuest, and Scopus databases. English keywords were as follows: autism spectrum disorders (ASD), screening/screen, tools, psychometric properties, validity, reliability, translations, pervasive developmental disorders (PDD), and children. The COnsensus -based Standards for the selection of health Measurement Instruments (COSMIN) checklist were used to investigate the psychometric properties of the studies.
RESULTS
Among the 476 primary studies, 35 ASD screening tools (132 articles related to the psychometric properties of 35 ASD screening tools in different languages) were identified based on our criteria, and their psychometric properties were examined. Various tools, including performance-based, direct observation, interactive play, and parent and teacher reports tools, were included in the list of tools.
CONCLUSION
Considering that each of these tools has advantages and limitations, they need to be selected and used according to the goals of the researchers and the therapists. Another important point is that many of these tools still need more extensive studies in relation to their psychometric properties.
PubMed: 38145177
DOI: 10.47176/mjiri.37.117 -
Focus (American Psychiatric Publishing) Apr 2024Autism spectrum disorders (ASD) are a varying group of disorders characterized by deficiency in social interaction and restrictive patterns of behavior and interests....
OBJECTIVE
Autism spectrum disorders (ASD) are a varying group of disorders characterized by deficiency in social interaction and restrictive patterns of behavior and interests. While there are several studies focusing on the neuro-psychiatric pathogenesis of ASD, its etiology remains unclear. The role of gut-brain-axis in ASD has been studied increasingly and a correlation between symptoms and the composition of gut microbiota has been documented in various works. Despite this, the significance of individual microbes and their function is still widely unknown. This work aims to elucidate the current knowledge of the interrelations between ASD and the gut microbiota in children based on scientific evidence.
METHODS
This is a systematic review done by a literature search focusing on the main findings concerning the gut microbiota composition, interventions targeting the gut microbiota, and possible mechanisms explaining the results in children aged between 2 and 18 years of age.
RESULTS
Most studies in this review found significant differences between microbial communities, while there was notable variation in results regarding diversity indices or taxonomic level abundance. The most consistent results regarding taxa differences in ASD children's gut microbiota were higher levels of Proteobacteria, Actinobacteria and compared to controls.
CONCLUSION
These results show that the gut microbiota of children with ASD is altered compared to one of neurotypically developed children. More research is needed to discover whether some of these features could be used as potential biomarkers for ASD and how the gut microbiota could be targeted in therapeutical interventions.Appeared originally in 2023;148:242-254.
PubMed: 38680985
DOI: 10.1176/appi.focus.24022008 -
BMC Pediatrics Dec 2023Children with Autism spectrum disorder (ASD) was frequently experienced dental anxiety and uncooperative behaviors during dental treatment. Oral health care was...
BACKGROUND
Children with Autism spectrum disorder (ASD) was frequently experienced dental anxiety and uncooperative behaviors during dental treatment. Oral health care was necessary because of the poor oral hygiene and prevalent dental diseases in this population.
AIM
In this systematic review, we evaluated the effectiveness and feasibility for pediatric dentist to manage the dental anxiety in children with ASD.
DESIGN
PubMed, Embase, and Cochrane Library were systematically performed on the literature search. The date of eligible publications was from inception to January 2023. After that, the quality of eligible studies was assessed by the Newcastle Ottawa Scale (NOS). Review findings were summarized using the PRISMA Statement for reporting.
RESULTS
A total of six studies were systematically evaluated according to the inclusion and exclusion criteria. Five studies were conducted to evaluate ASD Children's anxiety and uncooperative performance in the progressive oral examination, oral disease prophylaxis and fluoride application. The other one study evaluated the success rate of treatment in decayed permanent tooth treatment. In the included studies, four studies indicated that it was extremely necessary to reduce dental anxiety of ASD children to increase the cooperation in sensory-adapted dental environment (SADE).
CONCLUSION
It is not always effective and feasible for pediatric dentist to manage the dental anxiety in children with autism during routine oral examination. Meanwhile, it is necessary for ASD children to conduct preoperative psychological assessment, to investigate parents' expectations and cooperation, and to determine whether to start corresponding dental treatment.
Topics: Humans; Child; Autism Spectrum Disorder; Dental Anxiety; Oral Health; Delivery of Health Care; Autistic Disorder
PubMed: 38049774
DOI: 10.1186/s12887-023-04439-7 -
Focus (American Psychiatric Publishing) Apr 2024Individuals with autism spectrum disorder often present somatic and/or psychiatric co-morbid disorders. The DSM-5 allows for consideration of additional diagnoses...
OBJECTIVE
Individuals with autism spectrum disorder often present somatic and/or psychiatric co-morbid disorders. The DSM-5 allows for consideration of additional diagnoses besides ASD and may have impacted the prevalence of co-morbidities as well as being limited in capturing the true differences in prevalence observed between males and females. We describe the prevalence of ASD and frequently observed co-morbidities in children and adolescents (<18 years) in the United States and five European countries.
METHODS
Two systematic literature reviews were conducted in PubMed and Embase for the period 2014-2019 and focusing on the prevalence of ASD and nine co-morbidities of interest based on their frequency and/or severity: Attention Deficit Hyperactivity Disorder (ADHD), anxiety, depressive disorders, epilepsy, intellectual disability (ID), sleep disorders, sight/hearing impairment/loss, and gastro-intestinal syndromes (GI).
RESULTS
Thirteen studies on prevalence of ASD and 33 on prevalence of co-morbidities were included. Prevalence of ASD was 1.70 and 1.85% in U.S children aged 4 and 8 years respectively, while prevalence in Europe ranged between 0.38 and 1.55%. Additionally, current evidence is supportive of a global increase in ASD prevalence over the past years. Substantial heterogeneity in prevalence of co-morbidities was observed: ADHD (0.00-86.00%), anxiety (0.00-82.20%), depressive disorders (0.00-74.80%), epilepsy (2.80-77.50%), ID (0.00-91.70%), sleep disorders (2.08-72.50%), sight/hearing impairment/loss (0.00-14.90%/0.00-4.90%), and GI syndromes (0.00-67.80%). Studies were heterogeneous in terms of design and method to estimate prevalence. Gender appears to represent a risk factor for co-morbid ADHD (higher in males) and epilepsy/seizure (higher in females) while age is also associated with ADHD and anxiety (increasing until adolescence).
CONCLUSION
Our results provide a descriptive review of the prevalence of ASD and its co-morbidities in children and adolescents. These insights can be valuable for clinicians and parents/guardians of autistic children. Prevalence of ASD has increased over time while co-morbidities bring additional heterogeneity to the clinical presentation, which further advocates for personalized approaches to treatment and support. Having a clear understanding of the prevalence of ASD and its co-morbidities is important to raise awareness among stakeholders.Appeared originally in 2021; 12:744709.
PubMed: 38680973
DOI: 10.1176/appi.focus.24022005 -
Cureus Sep 2023It is well established that people with autism spectrum disorder (ASD) have significantly higher rates of social anxiety, given that most autistic individuals experience... (Review)
Review
It is well established that people with autism spectrum disorder (ASD) have significantly higher rates of social anxiety, given that most autistic individuals experience socio-communication impairments, a deficit in social competence, and their experience in social engagement situations often leads to discomfort in social settings. Literature also finds that individuals on the spectrum are often at a higher risk of developing social anxiety, which is often misinterpreted as social anxiety disorder (SAD) leading to delays in the clinical diagnosis of ASD. Hence, an improved understanding of specific factors that put ASD individuals at risk of developing social anxiety will aid research to differentiate between social anxiety among individuals with ASD compared to non-ASD individuals facing social anxiety in general. This systematic review study focuses on empirical literature that provides evidence for reasons contributing to social anxiety among individuals with ASD. Following the systematic review methodology, the study evaluates 10 research papers. The results revealed several correlations that can be useful in helping explain why individuals with ASD are at a higher risk of developing SAD. Individuals with ASD often suffer severe social anxiety because they struggle to understand social cues, maintain eye contact, interpret non-verbal cues like facial expressions or body language, or participate in reciprocal conversation. Other cognitive factors include a preference toward predictable situations, intolerance for uncertainty, and a tendency toward rigid thinking patterns. Unpredictability in social settings often heightens anxiety levels in ASD individuals, making them avoid such situations. Other risk factors include emotional recognition impairments and reduced social competence. These findings serve as a guide to developing better intervention strategies to help individuals with ASD to overcome social anxiety.
PubMed: 37809175
DOI: 10.7759/cureus.44841 -
Neuroscience and Biobehavioral Reviews Dec 2023This report aimed to compare group differences in social and non-social cognition in autism spectrum disorders (ASD) and schizophrenia, and examine the influence of age... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
This report aimed to compare group differences in social and non-social cognition in autism spectrum disorders (ASD) and schizophrenia, and examine the influence of age and other factors on group differences.
METHODS
Literature searches were conducted in Pubmed and Web of Science from January 1980 to August 2022. Original research articles reporting objective measures of cognition were selected.
RESULTS
57 articles involving 1864 patients with schizophrenia and 1716 patients with ASD have been included. Schizophrenia was associated with more severe non-social-cognitive impairment, particularly in fluency (g=0.47;CI[0.17-0.76]) and processing speed domains (g=0.41;CI[0.20-0.62]). Poorer performance in social cognition (Z = 3.68,p = 0.0002) and non-social cognition (Z = 2.48,p = 0.01) in schizophrenia were significantly related to older age. ASD was associated with more severe social cognitive impairment when groups were matched for non-social-cognition (g=-0.18, p = 0.04) or reasoning/problem solving (g=-0,62; CI [-1,06-(-0.08)].
DISCUSSION
While both disorders present with social and non-social cognitive impairments, the pattern and developmental trajectories of these deficits are different. The limitations included heterogeneity of the cognitive measures, and the lack of sufficient information about antipsychotic use.
Topics: Humans; Schizophrenia; Autism Spectrum Disorder; Social Cognition; Social Perception; Cognitive Dysfunction; Cognition
PubMed: 37923237
DOI: 10.1016/j.neubiorev.2023.105441 -
Translational Psychiatry Mar 2024There is widespread overlap across major psychiatric disorders, and this is the case at different levels of observations, from genetic variants to brain structures and...
There is widespread overlap across major psychiatric disorders, and this is the case at different levels of observations, from genetic variants to brain structures and function and to symptoms. However, it remains unknown to what extent these commonalities at different levels of observation map onto each other. Here, we systematically review and compare the degree of similarity between psychiatric disorders at all available levels of observation. We searched PubMed and EMBASE between January 1, 2009 and September 8, 2022. We included original studies comparing at least four of the following five diagnostic groups: Schizophrenia, Bipolar Disorder, Major Depressive Disorder, Autism Spectrum Disorder, and Attention Deficit Hyperactivity Disorder, with measures of similarities between all disorder pairs. Data extraction and synthesis were performed by two independent researchers, following the PRISMA guidelines. As main outcome measure, we assessed the Pearson correlation measuring the degree of similarity across disorders pairs between studies and biological levels of observation. We identified 2975 studies, of which 28 were eligible for analysis, featuring similarity measures based on single-nucleotide polymorphisms, gene-based analyses, gene expression, structural and functional connectivity neuroimaging measures. The majority of correlations (88.6%) across disorders between studies, within and between levels of observation, were positive. To identify a consensus ranking of similarities between disorders, we performed a principal component analysis. Its first dimension explained 51.4% (95% CI: 43.2, 65.4) of the variance in disorder similarities across studies and levels of observation. Based on levels of genetic correlation, we estimated the probability of another psychiatric diagnosis in first-degree relatives and showed that they were systematically lower than those observed in population studies. Our findings highlight that genetic and brain factors may underlie a large proportion, but not all of the diagnostic overlaps observed in the clinic.
Topics: Humans; Depressive Disorder, Major; Autism Spectrum Disorder; Mental Disorders; Bipolar Disorder; Schizophrenia; Attention Deficit Disorder with Hyperactivity
PubMed: 38555309
DOI: 10.1038/s41398-024-02866-3 -
Journal of Attention Disorders Oct 2023The two most prevalent neurodevelopmental disorders-Attention Deficit Hyperactivity Disorder (ADHD) and Autism (ASD)-(ASD/ADHD) strongly impact individuals' functions.... (Review)
Review
BACKGROUND
The two most prevalent neurodevelopmental disorders-Attention Deficit Hyperactivity Disorder (ADHD) and Autism (ASD)-(ASD/ADHD) strongly impact individuals' functions. This is worsened when individuals are undiagnosed and risks such as increased imprisonments, depression or drug misuse are often observed. This systematic review synthesizes the risks associated with late/undiagnosed ASD/ADHD.
METHODS
Four databases were searched (Medline, Scopus, PsychInfor, and Embase). Published studies exploring the impact of undiagnosed ASD/ADHD were included. Exclusion criteria included, lack of diagnosis status, studies not solely on ASD or ADHD, gray literature and studies not in English. The findings were summarize through a narrative synthesis.
RESULTS
Seventeen studies were identified, 14 on ADHD and three on ASD. The narrative synthesis identified three main themes: (1) Health, (2) Offending behavior, and (3) Day-to-day impact. The risks highlighted a significant impact on mental wellbeing and social interactions, higher risks of substance abuse, accidents and offending behavior as well as lower levels of income and education.
DISCUSSION
The findings suggest that undiagnosed ASD/ADHD is linked to many risks and negative outcomes affecting individuals, their families, and the wider society. The restricted number of studies on ASD are a limitation to the generalization of these findings Implications for research and practice are discussed, highlighting the importance of screening and acknowledging the possibility of ASD/ADHD in many settings such as psychiatric and forensic.
Topics: Humans; Attention Deficit Disorder with Hyperactivity; Autistic Disorder; Autism Spectrum Disorder; Narration
PubMed: 37341291
DOI: 10.1177/10870547231176862 -
Journal of Psychiatric Research Aug 2023People with mental disorders, such as psychosis or autism spectrum disorder (ASD), often present impairments in social cognition (SC), which may cause significant... (Review)
Review
People with mental disorders, such as psychosis or autism spectrum disorder (ASD), often present impairments in social cognition (SC), which may cause significant difficulties in real-world functioning. SC deficits are seen also in unaffected relatives, indicating a genetic substratum. The present review evaluated the evidence on the association between SC and the polygenic risk score (PRS), a single metric of the molecular genetic risk to develop a specific disorder. In July 2022, we conducted systematic searches in Scopus and PubMed following the PRISMA-ScR guidelines. We selected original articles written in English reporting results on the association between PRSs for any mental disorder and domains of SC either in people with mental disorders or controls. The search yielded 244 papers, of which 13 were selected for inclusion. Studies tested mainly PRSs for schizophrenia, ASD, and attention-deficit hyperactivity disorder. Emotion recognition was the most investigated domain of SC. Overall, evidence revealed that currently available PRSs for mental disorders do not explain variation in SC performances. To enhance the understanding of mechanisms underlying SC in mental disorders, future research should focus on the development of transdiagnostic PRSs, study their interaction with environmental risk factors, and standardize outcome measurement.
Topics: Humans; Social Cognition; Autism Spectrum Disorder; Psychotic Disorders; Attention Deficit Disorder with Hyperactivity; Risk Factors
PubMed: 37418886
DOI: 10.1016/j.jpsychires.2023.06.029