Toddler Screening for Autism Spectrum Disorder: A Meta-Analysis of Diagnostic Accuracy.
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ABSTRACT:
SUBMITTER: Sanchez-Garcia AB
PROVIDER: S-EPMC6483963 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Research indicates that a substantial amount of time elapses between parents' first concerns about their child's development and a formal diagnosis of autism spectrum disorder (ASD). Telehealth presents an opportunity to expedite the diagnostic process. This project compared a novel telehealth diagnostic approach that utilizes clinically guided in-home video recordings to the gold standard in-person diagnostic assessment. Participants included 40 families seeking an ASD evaluation for their child and 11 families of typically developing children. Children were between the ages of 18 months and 6 years 11 months; mean adaptive behavior composite = 75.47 (SD = 15.94). All parent participants spoke English fluently. Families completed the Naturalistic Observation Diagnostic Assessment (NODA) for ASD, which was compared to an in-person assessment (IPA). Agreement between the 2 methods, as well as sensitivity, specificity, and interrater reliability, were calculated for the full sample and the subsample of families seeking an ASD evaluation. Diagnostic agreement between NODA and the IPA was 88.2% (? = 0.75) in the full sample and 85% (? = 0.58) in the subsample. Sensitivity was 84.9% in both, whereas specificity was 94.4% in the full sample and 85.7% in the subsample. Kappa coefficients for interrater reliability indicated 85% to 90% accuracy between raters. NODA utilizes telehealth technology for families to share information with professionals and provides a method to inform clinical judgment for a diagnosis of ASD. Due to the high level of agreement with the IPA in this sample, NODA has potential to improve the efficiency of the diagnostic process for ASD. (PsycINFO Database Record
| S-EPMC5116282 | biostudies-literature
Project description:BACKGROUND:Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. METHODS:We implemented two approaches: (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD. An advantage of the former was its detection of group differences from pooled data across unique samples; an advantage of the latter was its sensitivity in quantifying early manifestations of language delay while accounting for covariates within a single large sample. RESULTS:Meta-analysis showed that high-risk siblings without ASD (HR-noASD) were three to four times more likely to exhibit language delay versus low-risk siblings without ASD (LR-noASD) and had lower mean receptive and expressive language scores. Analyses of IBIS data corroborated that language delay, specifically receptive language delay, was more frequent in the HR-noASD (n?=?235) versus LR-noASD group (n?=?115). IBIS language scores were continuously and unimodally distributed, with a pathological shift towards decreased language function in HR-noASD siblings. The elevated inherited risk for ASD was associated with lower receptive and expressive language scores when controlling for sociodemographic factors. For receptive but not expressive language, the effect of risk group remained significant even when controlling for nonverbal cognition. CONCLUSIONS:Greater frequency of language delay and a lower distribution of language scores in high-risk, unaffected toddler-aged siblings support decreased early language ability as an endophenotype for ASD, with a more pronounced effect for receptive versus expressive language. Further characterization of language development is warranted to refine genetic investigations of ASD and to elucidate factors influencing the progression of core autistic traits and related symptoms.
| S-EPMC6198516 | biostudies-literature
Project description:The reported prevalence of autism spectrum disorder (ASD) has been increasing rapidly in many parts of the world. However, data on its prevalence in China are largely missing. Here, we assessed the suitability of the modified Chinese version of a newly-developed ASD screening tool, the Modified Chinese Autism Spectrum Rating Scales (MC-ASRS) in screening for ASD in Chinese children aged 6-12 years, through comparison with the Social Responsiveness Scale (SRS) that has been widely used for ASD screening. We recruited the parents/caregivers of 1588 typically-developing children and 190 children with ASD aged 6-12 years to complete the MC-ASRS and SRS, and evaluated the validity of both scales in discriminating children with ASD from those developing typically. The results showed that MC-ASRS performed as well as SRS in sensitivity, specificity, and area-under-the-curve (both >0.95) in receiver operating characteristic analysis, with a fair false-negative rate. These results suggest that MC-ASRS is a promising tool for screening for children with ASD in the general Chinese population.
| S-EPMC5360843 | biostudies-other
Project description:Autism spectrum disorders (ASD) are clinically heterogeneous and biologically complex. In general it remains unclear, what biological factors lead to changes in the brains of autistic individuals. A considerable number of transcriptome analyses have been performed in attempts to address this question, but their findings lack a clear consensus. As a result, each of these individual studies has not led to any significant advance in understanding the autistic phenotype as a whole. Here, we report a meta-analysis of more than 1000 microarrays across twelve independent studies on expression changes in ASD compared to unaffected individuals, in both blood and brain tissues. We identified a number of known and novel genes that are consistently differentially expressed across three studies of the brain (71 samples in total). A subset of the highly ranked genes is suggestive of effects on mitochondrial function. In blood, consistent changes were more difficult to identify, despite individual studies tending to exhibit larger effects than the brain studies. Our results are the strongest evidence to date of a common transcriptome signature in the brains of individuals with ASD.
| S-EPMC4933311 | biostudies-literature
Project description:Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder (ASD) may shed light on particular biological mechanisms. However, studies of ASD cases versus controls have been limited by post-mortem timing and severely small sample sizes. Reports from in-life sampling of blood or saliva have also been very limited in sample size and/or genomic coverage. We present the largest case-control EWAS for ASD to date, combining data from population-based case-control and case-sibling pair studies.DNA from 968 blood samples from children in the Study to Explore Early Development (SEED 1) was used to generate epigenome-wide array DNA methylation (DNAm) data at 485,512 CpG sites for 453 cases and 515 controls, using the Illumina 450K Beadchip. The Simons Simplex Collection (SSC) provided 450K array DNAm data on an additional 343 cases and their unaffected siblings. We performed EWAS meta-analysis across results from the two data sets, with adjustment for sex and surrogate variables that reflect major sources of biological variation and technical confounding such as cell type, batch, and ancestry. We compared top EWAS results to those from a previous brain-based analysis. We also tested for enrichment of ASD EWAS CpGs for being targets of meQTL associations using available SNP genotype data in the SEED sample.In this meta-analysis of blood-based DNA from 796 cases and 858 controls, no single CpG met a Bonferroni discovery threshold of p?<?1.12?×?10-?7. Seven CpGs showed differences at p?<?1?×?10-?5 and 48 at 1?×?10-?4. Of the top 7, 5 showed brain-based ASD associations as well, often with larger effect sizes, and the top 48 overall showed modest concordance (r?=?0.31) in direction of effect with cerebellum samples. Finally, we observed suggestive evidence for enrichment of CpG sites controlled by SNPs (meQTL targets) among the EWAS CpG hits, which was consistent across EWAS and meQTL discovery p value thresholds.No single CpG site showed a large enough DNAm difference between cases and controls to achieve epigenome-wide significance in this sample size. However, our results suggest the potential to observe disease associations from blood-based samples. Among the seven sites achieving suggestive statistical significance, we observed consistent, and stronger, effects at the same sites among brain samples. Discovery-oriented EWAS for ASD using blood samples will likely need even larger samples and unified genetic data to further understand DNAm differences in ASD.
| S-EPMC6022498 | biostudies-other
Project description:ObjectiveWe conducted a meta-analysis to summarize the evidence from epidemiological studies of the association between asthma and autism spectrum disorder (ASD).MethodsA literature search was conducted using PubMed, Embase, and Cochrane library for studies published before February 2nd, 2016. Observational studies investigating the association between asthma and ASD were included. A random effects model was used to calculate the pooled risk estimates for the outcome. Subgroup analysis was used to explore potential sources of heterogeneity and publication bias was estimated using Begg's and Egger's tests.ResultsTen studies encompassing 175,406 participants and 8,809 cases of ASD were included in this meta-analysis. In the cross-sectional studies, the prevalence of asthma in ASD was 20.4%, while the prevalence of asthma in controls was 15.4% (P < 0.001). The pooled odds ratio (OR) for the prevalence of asthma in ASD in the cross-sectional studies was 1.26 (95% confidence interval (CI): 0.98-1.61) (P = 0.07), with moderate heterogeneity (I2 = 65.0%, P = 0.02) across studies. In the case-control studies, the pooled OR for the prevalence of asthma in ASD was 0.98 (95% CI: 0.68-1.43) (P = 0.94), and there was no evidence of an association between asthma and ASD. No evidence of significant publication bias on the association between asthma and ASD was found.ConclusionsIn conclusion, the results of this meta-analysis do not suggest an association between asthma and ASD. Further prospective studies ascertaining the association between asthma and ASD are warranted.
| S-EPMC4892578 | biostudies-literature
Project description:BackgroundBiological motion, namely the movement of others, conveys information that allows the identification of affective states and intentions. This makes it an important avenue of research in autism spectrum disorder where social functioning is one of the main areas of difficulty. We aimed to create a quantitative summary of previous findings and investigate potential factors, which could explain the variable results found in the literature investigating biological motion perception in autism.MethodsA search from five electronic databases yielded 52 papers eligible for a quantitative summarisation, including behavioural, eye-tracking, electroencephalography and functional magnetic resonance imaging studies.ResultsUsing a three-level random effects meta-analytic approach, we found that individuals with autism generally showed decreased performance in perception and interpretation of biological motion. Results additionally suggest decreased performance when higher order information, such as emotion, is required. Moreover, with the increase of age, the difference between autistic and neurotypical individuals decreases, with children showing the largest effect size overall.ConclusionWe highlight the need for methodological standards and clear distinctions between the age groups and paradigms utilised when trying to interpret differences between the two populations.
| S-EPMC6921539 | biostudies-literature
Project description:The aim of this study was to identify ASD vulnerability components, explore possible vulnerability subgroups, and evaluate environmental contribution to phenotypic variability. We performed PCA and cluster analysis using ASD risk factor data. We found that PC1 had a higher correlation with psychosocial stress (maternal stress, maternal education, and social class), and PC2 a higher correlation with biological factors (Psychiatric Family History and Gestational Complications). Clustering analysis of PCA scores using bootstrap approach showed two clusters. Comparing the methylome between clusters we found 11.879 DMPs (p<0.05), and their CpG sites were enriched in VMRs, most showing environmental and genetic influences. Hypermethylated probes presented higher rates in different regulatory regions associated with functional SNPs, indicating that the subgroups may have different affected regulatory regions and their liability to disease explained by common variations. Vulnerability score moderated by epigenetic clock was associated with Vineland Total score (p=0.0036, adjR2=0.31), suggesting risk factors with stress burden can influence phenotype.
2021-10-01 | GSE164563 | GEO
Project description:ObjectiveTo evaluate timing and accuracy of early and repeated screening for autism spectrum disorder (ASD) during well-child visits.Study designUsing a longitudinal study design, toddlers (n = 5784) were initially screened at 12 (n = 1504), 15 (n = 1228), or 18 (n = 3052) months during well-child visits, and rescreened at 18, 24, and 36 months. Of those screened, 368 toddlers attended an ASD evaluation after a positive screen and/or a provider concern for ASD at any visit.ResultsScreens initiated at 12 months yielded an ASD diagnosis significantly earlier than at 15 months (P = .003, d = 0.99) and 18 months (P < .001, d = 0.97). Cross-group overall sensitivity of the initial screen was .715 and specificity was .959. Repeat screening improves sensitivity (82.1%), without notably decreasing specificity (all >93.5%). Screening at 18 months resulted in significantly higher positive predictive value than at 12 months (X2 (1, n = 221) = 9.87, P = .002, OR = 2.60) and 15 months (X2 (1, n = 208) = 14.57, P < .001, OR = 3.67). With repeat screening, positive predictive value increased for all screen groups, but the increase was not significant.ConclusionsScreening as early as 12 months effectively identifies many children at risk for ASD. Children screened at 12 months receive a diagnosis of ASD significantly earlier than peers who are first screened at later ages, facilitating earlier intervention. However, as the sensitivity is lower for a single screen, screening needs to be repeated.
| S-EPMC8238814 | biostudies-literature
Project description:The increase in the number of children with autism and the importance of early autism intervention has prompted researchers to perform automatic and early autism screening. Consequently, in the present paper, a cry-based screening approach for children with Autism Spectrum Disorder (ASD) is introduced which would provide both early and automatic screening. During the study, we realized that ASD specific features are not necessarily observable in all children with ASD and in all instances collected from each child. Therefore, we proposed a new classification approach to be able to determine such features and their corresponding instances. To test the proposed approach a set of data relating to children between 18 to 53 months which had been recorded using high-quality voice recording devices and typical smartphones at various locations such as homes and daycares was studied. Then, after preprocessing, the approach was used to train a classifier, using data for 10 boys with ASD and 10 Typically Developed (TD) boys. The trained classifier was tested on the data of 14 boys and 7 girls with ASD and 14 TD boys and 7 TD girls. The sensitivity, specificity, and precision of the proposed approach for boys were 85.71%, 100%, and 92.85%, respectively. These measures were 71.42%, 100%, and 85.71% for girls, respectively. It was shown that the proposed approach outperforms the common classification methods. Furthermore, it demonstrated better results than the studies which used voice features for screening ASD. To pilot the practicality of the proposed approach for early autism screening, the trained classifier was tested on 57 participants between 10 to 18 months. These 57 participants consisted of 28 boys and 29 girls and the results were very encouraging for the use of the approach in early ASD screening.
| S-EPMC7728261 | biostudies-literature