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Clinics (Sao Paulo, Brazil) 2024Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder, with main manifestations related to communication, social interaction, and behavioral... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder, with main manifestations related to communication, social interaction, and behavioral patterns. The slight dynamics of change in the child over time require that the onset of clinical manifestations presented by the child be more valued, with the aim of stabilizing the condition. Faced with a variety of methods for diagnosing ASD, the question arises as to which method should be used. This systematic review aims to recommend the best tools to perform screening and diagnosis.
METHODOLOGY
This systematic review followed the PRISMA guidelines. The databases MEDLINE, Embase, CENTRAL (Cochrane), and Lilacs were accessed, and gray and manual searches were performed. The search strategy was created with terms referring to autism and the diagnosis/broad filter. The studies were qualitatively evaluated and quantitatively. Statistical analysis was performed using Meta-diSc-2.0 software, the confidence interval was 95 %.
RESULTS
The M-CHAT-R/F tool demonstrated a sensitivity of 78 % (95 % CI 0.57‒0.91) and specificity of 0.98 (95 % CI 0.88-1.00). The diagnostic tools demonstrated sensitivity and specificity respectively of: ADOS, sensitivity of 87 % (95 % CI 0.79‒0.92) and specificity 75 % (95 % CI 0.73‒0.78); ADI-R demonstrated test sensitivity of 77 % (95 % CI 0.56‒0.90) and specificity 68 % (95 % CI 0.52‒0.81), CARS test sensitivity was 89 % (95 % CI 0.78‒0.95) and specificity 79 % (95 % CI 0.65‒0.88).
CONCLUSION
It is mandatory to apply a screening test, the most recommended being the M-CHAT-R/F. For diagnosis CARS and ADOS are the most recommended tools.
Topics: Child; Humans; Autism Spectrum Disorder; Sensitivity and Specificity; Mass Screening; Communication; Research Design
PubMed: 38484581
DOI: 10.1016/j.clinsp.2023.100323 -
Neuroscience and Biobehavioral Reviews Jul 2024The relationship between autism spectrum disorder (ASD) and sexual offending (SO) is an overlooked issue, both in clinical practice and in research. Based on a... (Review)
Review
The relationship between autism spectrum disorder (ASD) and sexual offending (SO) is an overlooked issue, both in clinical practice and in research. Based on a pre-specified protocol (PROSPERO: CRD42024501598), we systematically searched Pubmed and Scopus, between January 1st, 1994 and January 12th, 2024, for articles related to SO in ASD. Study quality was assessed with study design-specific tools (Study Quality Assessment Tools, NHLBI, NIH). We found 19 relevant publications (five cross-sectional studies, two case-control studies, and 12 case reports). Seven of the studies were deemed of "good" quality, the rest as "fair". Included studies addressed three key aspects: 1) psychopathological characteristics of individuals with ASD that increase the risk of committing SO; 2) intervention strategies for individuals with ASD and SO; 3) involvement of individuals with ASD and SO in the justice system. Overall, while there is an increasing interest in this topic, more rigorous study designs, including randomised controlled trials, are needed to inform clinical practice and healthcare and social policies.
Topics: Humans; Autism Spectrum Disorder; Sex Offenses; Criminals
PubMed: 38685290
DOI: 10.1016/j.neubiorev.2024.105687 -
Molecular Genetics & Genomic Medicine Apr 2024RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk,... (Review)
Review
BACKGROUND
RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk, while for other RASopathies this association has been studied less. No specific ASD profile has been delineated so far for RASopathies or a specific RASopathy individually.
METHODS
We conducted a systematic review to investigate whether a specific RASopathy is associated with a specific ASD profile, or if RASopathies altogether have a distinct ASD profile compared to idiopathic ASD (iASD). We searched PubMed, Web of Science, and Open Grey for data about ASD features in RASopathies and potential modifiers.
RESULTS
We included 41 articles on ASD features in NF1, Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Individuals with NF1, NS, CS, and CFC on average have higher ASD symptomatology than healthy controls and unaffected siblings, though less than people with iASD. There is insufficient evidence for a distinct ASD phenotype in RASopathies compared to iASD or when RASopathies are compared with each other. We identified several potentially modifying factors of ASD symptoms in RASopathies.
CONCLUSIONS
Our systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.
Topics: Humans; Autism Spectrum Disorder; Noonan Syndrome; Heart Defects, Congenital; Costello Syndrome; Failure to Thrive; Neurofibromatosis 1
PubMed: 38581124
DOI: 10.1002/mgg3.2428 -
Neurobiology of Disease Jul 2024Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting 1 in 36 children and is associated with physiological abnormalities, most notably mitochondrial... (Meta-Analysis)
Meta-Analysis
Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting 1 in 36 children and is associated with physiological abnormalities, most notably mitochondrial dysfunction, at least in a subset of individuals. This systematic review and meta-analysis discovered 204 relevant articles which evaluated biomarkers of mitochondrial dysfunction in ASD individuals. Significant elevations (all p < 0.01) in the prevalence of lactate (17%), pyruvate (41%), alanine (15%) and creatine kinase (9%) were found in ASD. Individuals with ASD had significant differences (all p < 0.01) with moderate to large effect sizes (Cohen's d' ≥ 0.6) compared to controls in mean pyruvate, lactate-to-pyruvate ratio, ATP, and creatine kinase. Some studies found abnormal TCA cycle metabolites associated with ASD. Thirteen controlled studies reported mitochondrial DNA (mtDNA) deletions or variations in the ASD group in blood, peripheral blood mononuclear cells, lymphocytes, leucocytes, granulocytes, and brain. Meta-analyses discovered significant differences (p < 0.01) in copy number of mtDNA overall and in ND1, ND4 and CytB genes. Four studies linked specific mtDNA haplogroups to ASD. A series of studies found a subgroup of ASD with elevated mitochondrial respiration which was associated with increased sensitivity of the mitochondria to physiological stressors and neurodevelopmental regression. Lactate, pyruvate, lactate-to-pyruvate ratio, carnitine, and acyl-carnitines were associated with clinical features such as delays in language, social interaction, cognition, motor skills, and with repetitive behaviors and gastrointestinal symptoms, although not all studies found an association. Lactate, carnitine, acyl-carnitines, ATP, CoQ10, as well as mtDNA variants, heteroplasmy, haplogroups and copy number were associated with ASD severity. Variability was found across biomarker studies primarily due to differences in collection and processing techniques as well as the intrinsic heterogeneity of the ASD population. Several studies reported alterations in mitochondrial metabolism in mothers of children with ASD and in neonates who develop ASD. Treatments targeting mitochondria, particularly carnitine and ubiquinol, appear beneficial in ASD. The link between mitochondrial dysfunction in ASD and common physiological abnormalities in individuals with ASD including gastrointestinal disorders, oxidative stress, and immune dysfunction is outlined. Several subtypes of mitochondrial dysfunction in ASD are discussed, including one related to neurodevelopmental regression, another related to alterations in microbiome metabolites, and another related to elevations in acyl-carnitines. Mechanisms linking abnormal mitochondrial function with alterations in prenatal brain development and postnatal brain function are outlined. Given the multisystem complexity of some individuals with ASD, this review presents evidence for the mitochondria being central to ASD by contributing to abnormalities in brain development, cognition, and comorbidities such as immune and gastrointestinal dysfunction as well as neurodevelopmental regression. A diagnostic approach to identify mitochondrial dysfunction in ASD is outlined. From this evidence, it is clear that many individuals with ASD have alterations in mitochondrial function which may need to be addressed in order to achieve optimal clinical outcomes. The fact that alterations in mitochondrial metabolism may be found during pregnancy and early in the life of individuals who eventually develop ASD provides promise for early life predictive biomarkers of ASD. Further studies may improve the understanding of the role of the mitochondria in ASD by better defining subgroups and understanding the molecular mechanisms driving some of the unique changes found in mitochondrial function in those with ASD.
Topics: Humans; Autism Spectrum Disorder; Biomarkers; DNA, Mitochondrial; Mitochondria; Mitochondrial Diseases
PubMed: 38703861
DOI: 10.1016/j.nbd.2024.106520 -
Translational Psychiatry Dec 2023Narrative reviews have described various resting-state EEG power differences in autism across all five canonical frequency bands, with increased power for low and high... (Meta-Analysis)
Meta-Analysis
Narrative reviews have described various resting-state EEG power differences in autism across all five canonical frequency bands, with increased power for low and high frequencies and reduced power for middle frequencies. However, these differences have yet to be quantified using effect sizes and probed robustly for consistency, which are critical next steps for clinical translation. Following PRISMA guidelines, we conducted a systematic review of published and gray literature on resting-state EEG power in autism. We performed 10 meta-analyses to synthesize and quantify differences in absolute and relative resting-state delta, theta, alpha, beta, and gamma EEG power in autism. We also conducted moderator analyses to determine whether demographic characteristics, methodological details, and risk-of-bias indicators might account for heterogeneous study effect sizes. Our literature search and study selection processes yielded 41 studies involving 1,246 autistic and 1,455 neurotypical individuals. Meta-analytic models of 135 effect sizes demonstrated that autistic individuals exhibited reduced relative alpha (g = -0.35) and increased gamma (absolute: g = 0.37, relative: g = 1.06) power, but similar delta (absolute: g = 0.06, relative: g = 0.10), theta (absolute: g = -0.03, relative: g = -0.15), absolute alpha (g = -0.17), and beta (absolute: g = 0.01, relative: g = 0.08) power. Substantial heterogeneity in effect sizes was observed across all absolute (I: 36.1-81.9%) and relative (I: 64.6-84.4%) frequency bands. Moderator analyses revealed that age, biological sex, IQ, referencing scheme, epoch duration, and use of gold-standard autism diagnostic instruments did not moderate study effect sizes. In contrast, resting-state paradigm type (eyes-closed versus eyes-open) moderated absolute beta, relative delta, and relative alpha power effect sizes, and resting-state recording duration moderated relative alpha power effect sizes. These findings support further investigation of resting-state alpha and gamma power as potential biomarkers for autism.
Topics: Humans; Electroencephalography; Autism Spectrum Disorder; Attention Deficit Disorder with Hyperactivity; Autistic Disorder
PubMed: 38097538
DOI: 10.1038/s41398-023-02681-2 -
Scientific Reports Nov 2023To conduct a systematic review and meta-analysis of the association between children and adolescents with attention deficit hyperactivity disorder (ADHD) or autism... (Meta-Analysis)
Meta-Analysis
To conduct a systematic review and meta-analysis of the association between children and adolescents with attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) and ocular characteristics. Systematic review with meta-analysis. Six databases (PubMed, Scopus, APA PsycInfo, Embase, EBSCOhost, and Cochrane library) were selected for a systematic literature search from database inception to July 2022. The observational studies assessing and reporting at least one outcome regarding ocular characteristics in children and adolescents with ADHD or ASD aged 6-17 were included. Studies in languages other than English, studies of adult or elderly human populations, and animal studies were excluded. The results were analyzed following the PRISMA guideline 2020. The findings of 15 studies, including 433 participants with ADHD, 253 participants with ASD, and 514 participants with typical development (TD), revealed that there were no significant differences in retinal nerve fiber layer, ganglion cell complex, and macular thickness between the ADHD group and the TD group. In subgroup analysis, significant differences in inferior ganglion cell (MD = - 3.19; 95% CI = [- 6.06, - 0.31], p = 0.03) and nasal macular thickness (MD = 5.88; 95% CI = [- 0.01, 11.76], p = 0.05) were detected between the ADHD group and the TD group. A significant difference in pupillary light reflex (PLR) was also observed between the ASD group and the TD group (MD = 29.7; 95% CI = [18.79, 40.63], p < 0.001). Existing evidence suggests a possible association between children and adolescents with ADHD or ASD and ocular characteristics. Given the limited number of studies, further research on a larger cohort is necessary to claim a possible diagnosis of ADHD or ASD through ocular characteristics.
Topics: Adult; Animals; Aged; Adolescent; Child; Humans; Autism Spectrum Disorder; Face; Retina; Nose; Neurodevelopmental Disorders
PubMed: 37938638
DOI: 10.1038/s41598-023-46206-9 -
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 -
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 Oct 2023Abnormal gestational weight gain (GWG) has been increasing globally, up to 47% of all pregnancies. Multiple studies have focused on the association between GWG and... (Meta-Analysis)
Meta-Analysis Review
Abnormal gestational weight gain (GWG) has been increasing globally, up to 47% of all pregnancies. Multiple studies have focused on the association between GWG and adverse neurodevelopmental outcomes in the offspring, however with inconsistent results. We performed a systematic review and meta-analysis to evaluate associations between excessive or insufficient GWG and offspring's neurodevelopmental outcomes. Meta-analysis of these 23 studies using a random-effects model revealed associations between excessive GWG and neurodevelopmental disorders (ASD & ID & ADHD together: OR=1.12 [95% CI 1.06-1.19]), ASD (OR=1.18 [95% CI 1.08-1.29]), ADHD (OR=1.08 [95% CI 1.02-1.14]), ASD with ID (OR=1.15 [95% CI 1.01-1.32]), and ASD without ID (OR=1.12 [95% CI 1.06-1.19]). Insufficient GWG was associated with higher risk for ID (OR=1.14 [95% CI 1.03-1.26]). These results emphasize the significant impact, though of small effect size, of GWG across multiple neurodevelopmental disorders. It is important to note that these results do not establish causality. Other factors such as genetic factors, gene-environment interactions may confound the relationship between GWG and neurodevelopmental outcomes. To better understand the role of GWG in neurodevelopmental disorders, future studies should consider using genetically sensitive designs that can account for these potential confounders.
Topics: Pregnancy; Female; Humans; Gestational Weight Gain; Weight Gain; Neurodevelopmental Disorders; Body Mass Index
PubMed: 37573899
DOI: 10.1016/j.neubiorev.2023.105360 -
Frontiers in Nutrition 2023The potential impact of gut health on general physical and mental well-being, particularly in relation to brain function, has led to a growing interest in the potential...
BACKGROUND AND OBJECTIVE
The potential impact of gut health on general physical and mental well-being, particularly in relation to brain function, has led to a growing interest in the potential health advantages of prebiotics, probiotics, and synbiotics for the management of ASD. A comprehensive meta-analysis and systematic review was conducted in order to evaluate the effectiveness and protection of many drugs targeted at manipulating the microbiota in the treatment of ASD.
METHODS
The present study employed a comprehensive examination of various electronic databases yielded a total of 3,393 records that were deemed possibly pertinent to the study. RCTs encompassed a total of 720 individuals between the ages of 2 and 17, as well as 112 adults and participants ranging from 5 to 55 years old, all of whom had received a diagnosis of ASD.
RESULTS
Overall, 10 studies reported Autism-Related Behavioral Symptoms (ARBS). Regarding the enhancement of autism-related behavioral symptoms, there wasn't a statistically significant difference between the intervention groups (combined standardized mean difference = -0.07, 95% confidence interval: -0.39 to 0.24, = 0.46, = 0.65). We observed that in the patients with ASD treated with probiotic frontopolar's power decreased significantly from baseline to endpoints in beta band (Baseline: 13.09 ± 3.46, vs. endpoint: 10.75 ± 2.42, = 0.043, respectively) and gamma band (Baseline: 5.80 ± 2.42, vs. endpoint: 4.63 ± 1.39, = 0.033, respectively). Among all tested biochemical measures, a significant negative correlation was found between frontopolar coherence in the gamma band and -α ( = -0.30, = 0.04).
CONCLUSION
The existing body of research provides a comprehensive analysis of the developing evidence that indicates the potential of probiotics, prebiotics, and synbiotics as therapeutic therapies for ASD. Our findings revealed that those there was no significant effect of such therapy on autism-related behavioral symptoms, it has significant effect on the brain connectivity through frontopolar power in beta and gamma bands mediated by chemicals and cytokines, such as -α. The psychobiotics showed no serious side-effects.
PubMed: 38148790
DOI: 10.3389/fnut.2023.1294089