ASD Risk Research Articles

Coaching via Telehealth: Caregiver-Mediated Interventions for Young Children on the Waitlist for an Autism Diagnosis Using Single-Case Design.

Years can elapse between parental suspicion of a developmental delay and a diagnostic assessment, ultimately delaying access to medically necessary, autism-specific intervention. Using a single-case, concurrent multiple baseline design, autism spectrum disorder symptomology (i.e., higher-order restrictive and repetitive behaviors and interests; higher-order RRBIs) was targeted in toddlers (21–35 months) waiting for a diagnostic appointment. Caregivers were coached via telehealth to mediate early intervention to decrease interfering, inflexible higher-order RRBIs during play using four evidence-based applied behavior analytic strategies: modeling, prompting, differential reinforcement of appropriate behaviors, and response interruption and redirection. Six mother–child dyads were recruited from pediatrician offices and early intervention service districts in the United States. All families were considered under-served, under-resourced, or living in rural locations. A visual analysis of the data combined with Tau-U revealed a strong basic effect between the intervention package and parent strategy use and child flexible and inflexible behavior. Findings were consistent across participants with one exception demonstrating a moderate effect for flexible behaviors yet a strong effect for inflexible behaviors. Standardized mean difference was beyond zero for all participants. Implications for science and practice include support for early intervention of higher-order RRBIs for young children with and at risk for ASD.

Male infants at risk for ASD have deficit in expressive language at 14 months of age

IntroductionAutism spectrum disorders (ASD) is one of the most common neurodevelopmental disorders. It is known that infants who have older siblings with ASD have a risk for development of this disorder. It is important to study the development of children at risk for ASD to reveal early markers for ASD.ObjectivesThe aim of this research was to investigate the neurocognitive abilities in children at risk for ASD at 14 months of age.MethodsThe experimental group included 21 infants at risk for ASD at 14 months (12 boys and 9 girls). The control group included 21 typically developing children. The children from groups were matched for gender and age. The Bayley Scales (3rd Ed.) were used to evaluate the neurocognitive abilities in children.ResultsThe results were evaluated by two-way ANOVA, with level of performance in five Bayley scales as dependent variable, with group and gender as between-subjects factors. We did not reveal the significant (p≤0,05) influence of the group and gender on performance in cognitive scale, receptive language, gross and fine motor. However, the infants at risk for ASD performed significantly (p≤0,05) more poorly than infants from control group on expressive language. No differences were found between female infants at risk for ASD and female infants from control group on expressive language.ConclusionsThe obtained results show that male infants at risk for ASD have deficit in expressive language at 14 months of age. It is possible that delay in development of expressive language can be early markers for ASD.

HYPERTENSIVE DISORDER OF PREGNANCY AND THE RISK OF AUTISM SPECTRUM DISORDER IN OFFSPRING: META-ANALYSIS

Objective: Aim of this meta-analysis is to examine the association between Hypertensive Disorder of Pregnancy and ASD. ASD is the broad current designation for a group of conditions with deficits in social interaction and communication and RRBs(restricted repetitive behaviors), common severe pervasive neurodevelopmental disorder of undetermined etiology. Environmental exposures, especially pregnancy complications, have been increasingly recognized as a potential risk factor for ASD. Design and method: We conducted a systematic literature search onPubMed, Embase and PsycINFO databases were searched. Pooled relative risks (RR) with 95% confidence intervals were calculated. Subgroup and sensitivity analyses were performed. Heterogeneity was assessed using Cochran's Q- and the I test. The presence of publication bias was evaluated by Egger's test and visual inspection of the symmetry in funnel plots. Results: A total of t welve studies meet the inclusion criteria with more than 307146 participant,including 6209 ASD. Subgroup analysis of clinical classification include: gestational hypertension, pre-eclampsia, chronic hypertension complicating pregnancy. The risk of ASD in pre-eclampsia is with OR 1.47 and CHP with OR 1.37 slightly higher than those of mothers with gestational hypertension OR 1.2. In consistence with most previous researches, higher ASD prevalence was observed in male than female,indicating a potential role for gender in the pathophysiology of ASD. The figure shows a Forest plot of the correlation between HDP and ASD Conclusions: This meta-analysis implies a possible link between Hypertensive Disorders of Pregnancy and the risk of Autism Spectrum Disorder in offspring. However, further investigation should be conducted to confirm this conclusion, and intensive prenatal surveillance and early prediction for ASD is needed.

Use of the autism spectrum screening questionnaire for identification of autism spectrum disorders in 8-10 years old georgian children*

IntroductionRising prevalence of autism spectrum disorders highlights importance of research priority of development of effective screening procedures for schoolage children.ObjectivesThe study aimed to identify the prevalence of ASD among 8-10 y old schoolchildren in Republic of Georgia.MethodsIn 2019 a cross sectional survey in four main cities of Republic of Georgia was conducted, totally 3rd and 4th grade (8-10 y old) 16654 children from 211 public schools were included. The Autism Spectrum Screening Questionnaire (ASSQ), completed by parents and teachers, was used to determine children at risk for ASD.Results16654 (response rate 74%) parents were agreed to participate in the study. Parents and teachers rated 770 (5.0%) and 669 children (4.9%), respectively, as screen positive (in top five percentile). Cut-off scores for 99-95 percentiles (top 1-5%) was defined. Boys were more likely to be rated screenpositive than girls. Share of boys rated in the top 5% by parents is 5.6% compared to 4.3% of girls. Teachers place boys in the top 5% even more frequently – 6.4% versus 3.4% girls. Pairwise correlation coefficients (0.53) revealed moderate correlations between scores and according to p-values (< 0.05) all correlations were statistically significant.ConclusionsThe study defined the cut-off scores of ASSQ for 8-10 y old Georgian children and gender difference in prevalence of risk for ASD. Using the ASSQ was an effective instrument and could be used in school settings to identify children with special needs. *This work was supported by Shota Rustaveli National Science Foundation of Georgia (SRNSFG), grant - FR-18-304.DisclosureNo significant relationships.

P.314 Effect of a focused social and communication intervention (SCI) on preterm children at risk for ASD: a pilot study.

P.314 Effect of a focused social and communication intervention (SCI) on preterm children at risk for ASD: a pilot study.

A Longitudinal Study of Parent Gestures, Infant Responsiveness, and Vocabulary Development in Infants at Risk for Autism Spectrum Disorder.

We investigated gesturesthat parents used with 12-, 18-, and 24-month-old infants at high or low risk for autism spectrum disorder (ASD;high-risk diagnosed with ASD:n = 21; high-risk classified as no ASD:n = 34; low-risk classified as no ASD:n = 34). We also examined infant responses to parent gestures and assessed the extent to which parent gesture relates to vocabulary development. Parents of three groups gestured in similar frequencies and proportions. Infants, in turn, responded similarly to parent gestures regardless of the infant's ASD risk and later diagnosis. Finally, parents who gestured more at 12months had children with better vocabulary at 36months than parents who gestured less. These findings highlight the importance of examining parent gestures when predicting language development.

Zinc.

Since the discovery of manifest Zn deficiency in 1961, the increasing number of studies demonstrated the association between altered Zn status and multiple diseases. In this chapter, we provide a review of the most recent advances on the role of Zn in health and disease (2010-20), with a special focus on the role of Zn in neurodegenerative and neurodevelopmental disorders, diabetes and obesity, male and female reproduction, as well as COVID-19. In parallel with the revealed tight association between ASD risk and severity and Zn status, the particular mechanisms linking Zn2+ and ASD pathogenesis like modulation of synaptic plasticity through ProSAP/Shank scaffold, neurotransmitter metabolism, and gut microbiota, have been elucidated. The increasing body of data indicate the potential involvement of Zn2+ metabolism in neurodegeneration. Systemic Zn levels in Alzheimer's and Parkinson's disease were found to be reduced, whereas its sequestration in brain may result in modulation of amyloid β and α-synuclein processing with subsequent toxic effects. Zn2+ was shown to possess adipotropic effects through the role of zinc transporters, zinc finger proteins, and Zn-α2-glycoprotein in adipose tissue physiology, underlying its particular role in pathogenesis of obesity and diabetes mellitus type 2. Recent findings also contribute to further understanding of the role of Zn2+ in spermatogenesis and sperm functioning, as well as oocyte development and fertilization. Finally, Zn2+ was shown to be the potential adjuvant therapy in management of novel coronavirus infection (COVID-19), underlining the perspectives of zinc in management of old and new threats.

Uncovering neurodevelopmental paths to autism spectrum disorder through an integrated analysis of developmental measures and neural sensitivity to faces.

BackgroundAutism spectrum disorder (ASD) is highly heterogeneous in its etiology and manifestation. The neurobiological processes underlying ASD development are reflected in multiple features, from behaviour and cognition to brain functioning. An integrated analysis of these features may optimize the identification of these processes.MethodsWe examined cognitive and adaptive functioning and ASD symptoms between 8 and 36 months in 161 infants at familial high risk for ASD and 71 low-risk controls; we also examined neural sensitivity to eye gaze at 8 months in a subsample of 140 high-risk and 61 low-risk infants. We used linked independent component analysis to extract patterns of variation across domains and development, and we selected the patterns significantly associated with clinical classification at 36 months.ResultsAn early process at 8 months, indicating high levels of functioning and low levels of symptoms linked to higher attention to gaze shifts, was reduced in infants who developed ASD. A longitudinal process of increasing functioning and low levels of symptoms was reduced in infants who developed ASD, and another process suggesting a stagnation in cognitive functioning at 24 months was increased in infants who developed ASD.LimitationsAlthough the results showed a clear significant trend relating to clinical classification, we found substantial overlap between groups.ConclusionWe uncovered underlying processes that acted together early in development and were associated with clinical outcomes. Our results highlighted the complexity of emerging ASD, which goes beyond the borders of clinical categories. Future work should integrate genetic data to investigate the specific genetic risks linked to these processes.

Prediction and prioritization of autism-associated long non-coding RNAs using gene expression and sequence features

BackgroundAutism spectrum disorders (ASD) refer to a range of neurodevelopmental conditions, which are genetically complex and heterogeneous with most of the genetic risk factors also found in the unaffected general population. Although all the currently known ASD risk genes code for proteins, long non-coding RNAs (lncRNAs) as essential regulators of gene expression have been implicated in ASD. Some lncRNAs show altered expression levels in autistic brains, but their roles in ASD pathogenesis are still unclear.ResultsIn this study, we have developed a new machine learning approach to predict candidate lncRNAs associated with ASD. Particularly, the knowledge learnt from protein-coding ASD risk genes was transferred to the prediction and prioritization of ASD-associated lncRNAs. Both developmental brain gene expression data and transcript sequence were found to contain relevant information for ASD risk gene prediction. During the pre-training phase of model construction, an autoencoder network was implemented for a representation learning of the gene expression data, and a random-forest-based feature selection was applied to the transcript-sequence-derived k-mers. Our models, including logistic regression, support vector machine and random forest, showed robust performance based on tenfold cross-validations as well as candidate prioritization with hypothetical loci. We then utilized the models to predict and prioritize a list of candidate lncRNAs, including some reported to be cis-regulators of known ASD risk genes, for further investigation.ConclusionsOur results suggest that ASD risk genes can be accurately predicted using developmental brain gene expression data and transcript sequence features, and the models may provide useful information for functional characterization of the candidate lncRNAs associated with ASD.

Towards a Data-Driven Approach to Screen for Autism Risk at 12 Months of Age

This study aimed to develop a classifier for infants at 12 months of age based on a parent-report measure (the First Year Inventory 2.0 [FYI]), for the following reasons: (1) to classify infants at elevated risk, above and beyond that attributable to familial risk status for ASD; and (2) to serve as a starting point to refine an approach for risk estimation in population samples. A total of 54 high-familial risk (HR) infants later diagnosed with ASD (HR-ASD), 183 HR infants not diagnosed with ASD at 24 months of age (HR-Neg), and 72 low-risk controls participated in the study. All infants contributed FYI data at 12 months of age and had a diagnostic assessment for ASD at age 24 months. A data-driven, cross-validated analytic approach was used to develop a classifier to determine screening accuracy (eg, sensitivity) of the FYI to classify HR-ASD and HR-Neg. The newly developed FYI classifier had an estimated sensitivity of 0.71 (95% CI: 0.50, 0.91) and specificity of 0.72 (95% CI: 0.49, 0.91). This classifier demonstrates the potential to improve current screening for ASD risk at 12 months of age in infants already at elevated familial risk for ASD, increasing opportunities for detection of autism risk in infancy. Findings from this study highlight the utility of combining parent-report measures with machine learning approaches.

In utero exposure to valproic acid increases risk of ASD and ADHD

In utero exposure to valproic acid increases risk of ASD and ADHD

Genetic variants of ZNF385B and COMT are associated with autism spectrum disorder in the Bangladeshi children

BackgroundAutism spectrum disorder (ASD) is an intense, highly heritable complex neurodevelopmental disorder in children. Genetic association studies have demonstrated the correlation of different genetic polymorphisms with ASD. We investigated the contribution of genetic variants in ZNF385B (rs11885327 and rs1964081) and COMT (rs165774) genes with Bangladeshi ASD children in this study. Material and methodsA total of 216 ASD cases and 216 controls were recruited in this case-control study, and the association of rs11885327, rs1964081, and rs165774 were examined by PCR–RFLP method. ResultsFor rs11885327, CC genotype, dominant model, and ‘C’ allele were significantly associated with ASD (OR = 1.89, 95% CI = 1.11–3.23, p = 0.019; OR = 1.51, 95% CI = 1.01–2.25, p = 0.043; OR = 1.40, 95% CI = 1.07–1.84, p = 0.013, respectively). After Bonferroni correction (p < 0.017), only ‘C’ allele remained significant. In the case of rs1964081, GG genotype (OR = 1.95, 95% CI = 1.07–3.57, p = 0.029) and ‘G’ allele (OR = 1.34, 95% CI = 1.02–1.76, p = 0.037) showed a significantly elevated risk for the development of ASD but the significance did not exist after Bonferroni correction. For rs165774, all genetic models were associated with an increased risk of ASD except AG genotype (AA vs. GG: OR = 7.68, 95% CI = 3.89–15.15, p < 0.0001; dominant model: OR = 2.29, 95% CI = 1.55–3.36, p < 0.0001; recessive model: OR = 6.54, 95% CI = 3.40–12.57, p < 0.0001; A allele: OR = 2.53, 95% CI = 1.88–3.39, p < 0.0001). In all cases, the results were statistically significant and the significance remained after Bonferroni correction (p < 0.017). Haplotyping analysis of rs11885327 and rs1964081 revealed that TA haplotype reduced the risk risk of ASD. ConclusionThe findings of this study indicate that rs11885327 and rs1964081 of ZNF385B and rs165774 of COMT genes contribute to the susceptibility of ASD in the Bangladeshi children.

Brain function distinguishes female carriers and non-carriers of familial risk for autism

BackgroundAutism spectrum disorder (ASD) is characterized by high population-level heritability and a three-to-one male-to-female ratio that occurs independent of sex linkage. Prior research in a mixed-sex pediatric sample identified neural signatures of familial risk elicited by passive viewing of point light motion displays, suggesting the possibility that both resilience and risk of autism might be associated with brain responses to biological motion. To confirm a relationship between these signatures and inherited risk of autism, we tested them in families enriched for genetic loading through undiagnosed (“carrier”) females.MethodsUsing functional magnetic resonance imaging, we examined brain responses to passive viewing of point light displays—depicting biological versus non-biological motion—in a sample of undiagnosed adult females enriched for inherited susceptibility to ASD on the basis of affectation in their respective family pedigrees. Brain responses in carrier females were compared to responses in age-, SRS-, and IQ-matched non-carrier-females—i.e., females unrelated to individuals with ASD. We conducted a hypothesis-driven analysis focused on previously published regions of interest as well as exploratory, brain-wide analyses designed to characterize more fully the rich responses to this paradigm.ResultsWe observed robust responses to biological motion. Notwithstanding, the 12 regions implicated by prior research did not exhibit the hypothesized interaction between group (carriers vs. controls) and point light displays (biological vs. non-biological motion). Exploratory, brain-wide analyses identified this interaction in three novel regions. Post hoc analyses additionally revealed significant variations in the time course of brain activation in 20 regions spanning occipital and temporal cortex, indicating group differences in response to point light displays (irrespective of the nature of motion) for exploration in future studies.LimitationsWe were unable to successfully eye-track all participants, which prevented us from being able to control for potential differences in eye gaze position.ConclusionsThese methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD.

Eye-Tracking in Infants and Young Children at Risk for Autism Spectrum Disorder: A Systematic Review of Visual Stimuli in Experimental Paradigms.

Eye-tracking represents a sensitive, direct measure of gaze allocation and goal-directed looking behaviors that correspond to visual information processing. Clear definitions and standardization of research protocols to document the utility and feasibility of these methods are warranted. This systematic review provides an account of stimuli dimensions and experimental paradigms used in eye-tracking research for young children at risk for ASD published from 2005 through 2019. This review identifies variability in eye-tracking protocols and heterogeneity of stimuli used for eye-tracking as factors that undermine the value of eye-tracking as an objective, reliable screening tool. We underscore the importance of sharing eye-tracking stimuli to enhance replicability of findings and more importantly the need to develop a bank of publicly available, validated stimuli.

Shared and distinct developmental pathways to ASD and ADHD phenotypes among infants at familial risk.

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are believed to share partially overlapping causal mechanisms suggesting that early risk markers may also overlap. Using latent profile analysis (LPA) in a sample of infants enriched for ASD and ADHD, we first examined the number of distinct groups of 3-year-old children, based on ADHD and ASD symptomatology. To investigate early predictors of ASD and ADHD symptom profiles, we next examined differences in trajectories of infant behaviors among the LPA classes spanning general development, negative affect, attention, activity level, impulsivity, and social behavior. Participants included 166 infants at familial risk for ASD (n = 89), ADHD (n = 38), or low-risk for both (n = 39) evaluated at 12, 18, 24, and 36 months of age. A three-class solution was selected reflecting a Typically Developing (TD) class (low symptoms; n = 108), an ADHD class (high ADHD/low ASD symptoms; n = 39), and an ASD class (high ASD/ADHD symptoms; n = 19). Trajectories of infant behaviors were generally suggestive of a gradient pattern of differences, with the greatest impairment within the ASD class followed by the ADHD class. These findings indicate a mixture of overlapping and distinct early markers of preschool ASD- and ADHD-like profiles that can be difficult to disentangle early in life.

The association between maternal lipid profile after birth and offspring risk of autism spectrum disorder

PurposeMaternal obesity has been consistently associated with offspring risk for ASD, as well as lipid metabolism derangements. However, few ASD studies have examined maternal lipids in conjunction with maternal prepregnancy body mass index (BMI). MethodsThis nested case-control study was based on the Boston Birth Cohort, a prospective cohort study of mother-child dyads recruited at the Boston Medical Center. Maternal blood samples were collected shortly after delivery and analyzed for total plasma cholesterol, HDL, and triglyceride (TG) concentrations. Low-density lipoprotein (LDL) was subsequently calculated by the Friedewald equation. Cases were identified using ASD diagnoses in children’s medical records. The odds of ASD were estimated with continuous lipid levels for a linear relationship, and we further explored the nonlinear relationship using the tertile of each lipid analyte with the highest tertile as the reference group. Logistic regression was used to estimate the risk of ASD adjusting for potential confounders. The analyses were performed separately for mothers with normal weight and overweight/obese based on maternal prepregnancy BMI. ResultsOne standard deviation decrease in postpartum maternal LDL was associated with increased odds of ASD aOR 1.35 [1.04–1.75]. There was no association between postpartum maternal HDL and TG levels and ASD risk. Decreasing levels of LDL were not associated with ASD risk in normal-weight mothers (aOR 1.2 [0.83–1.75]), but the ASD risk was more pronounced in overweight and obese mothers (aOR 1.54 [1.03–2.27]). Follow-up analysis of nonlinear association models showed that, when compared to the highest tertile, lower maternal LDL concentrations were associated with approximately two times increased risk of ASD (first tertile: aOR 2.49 [1.27–4.87] and second tertile: aOR 2.79 [1.42–5.48]). A similar pattern was observed with overweight/obese mothers but not in normal-weight mothers. ConclusionsLower maternal postpartum plasma LDL concentration was associated with increased odds of ASD in offspring among children born to overweight and obese mothers. Our findings suggest that both maternal BMI and lipids should be considered in assessing their role in offspring ASD risk, and additional longitudinal studies are needed to better understand maternal lipid dynamics during pregnancy among normal-weight and overweight/obese mothers.

A polygenic risk score analysis of ASD and ADHD across emotion recognition subtypes.

This study investigated the genetic components of ADHD and ASD by examining the cross‐disorder trait of emotion recognition problems. The genetic burden for ADHD and ASD on previously identified emotion recognition factors (speed and accuracy of visual and auditory emotion recognition) and classes (Class 1: Average visual, impulsive auditory; Class 2: Average‐strong visual & auditory; Class 3: Impulsive & imprecise visual, average auditory; Class 4: Weak visual & auditory) was assessed using ASD and ADHD polygenic risk scores (PRS). Our sample contained 552 participants: 74 with ADHD, 85 with ASD, 60 with ASD + ADHD, 177 unaffected siblings of ADHD or ASD probands, and 156 controls. ADHD‐ and ASD‐PRS, calculated from the latest ADHD and ASD GWAS meta‐analyses, were analyzed across these emotion recognition factors and classes using linear mixed models. Unexpectedly, the analysis of emotion recognition factors showed higher ASD‐PRS to be associated with faster visual emotion recognition. The categorical analysis of emotion recognition classes showed ASD‐PRS to be reduced in Class 3 compared to the other classes (p value threshold [pT] = 1, p = .021). A dimensional analysis identified a high ADHD‐PRS reduced the probability of being assigned to the Class 1 or Class 3 (pT = .05, p = .028 and p = .044, respectively). Though these nominally significant results did not pass FDR correction, they potentially indicate different indirect causative chains from genetics via emotion recognition to ADHD and ASD, which need to be verified in future research.

Evaluating the rate of Social (Pragmatic) Communication Disorder in children at risk for Autism Spectrum Disorder

ABSTRACT In the present study, we examined the rate of DSM-5 Social (Pragmatic) Communication Disorder (SCD) symptoms and diagnoses in a sample of school-aged youth at risk for ASD. Diagnostic evaluations were performed on 254 participants who had previously screened at risk for ASD via the Social Communication Questionnaire-Lifetime Version (SCQ). While 19 participants met all four clinical criteria for SCD, 18 of these (95%) also met criteria for DSM-5 ASD, effectively ruling out an SCD diagnosis. The one participant who met the criteria for SCD met DSM-IV criteria for PDD-NOS but did not meet DSM-5 criteria for ASD due to RRBs in only one category. Given the high proportion of at-risk youth with social communication impairment, it is essential that interventions be developed and made more readily available to individuals both with and without diagnoses of ASD.

The association between newborn screening analytes as measured on a second screen and childhood autism in a Texas Medicaid population

Autism (or autism spectrum disorder [ASD]) is an often disabling childhood neurologic condition of mostly unknown cause. We previously explored whether there was an association of ASD with any analyte measured in the first newborn screening blood test. Here we explore the second screen. Our matched case-control study examined data on 3-5 year-old patients with any ASD diagnosis in the Texas Medicaid system in 2010-2012. Subjects were linked to their 2007-2009 newborn screening blood test data, which included values for 36 analytes or analyte ratios. Data were available for 3,005 cases and 6,212 controls. The most compelling associations were evident for fatty acid oxidation analytes octanoylcarnitine (C8) and octanoylcarnitine/acetylcarnitine (C8/C2). Their adjusted odds ratios comparing 10th versus first analyte deciles were between 1.42 and 1.54 in total births, term births, and males. C8 was consistent with first screen results. Adipylcarnitine (C6DC), an organic acid analyte, showed opposite results in the two screens. Several other analytes exhibiting significant associations in the first screen did not in the second. Our results provide evidence that abnormal newborn blood levels of some carnitines may be associated with risk of later ASD, possibly related to their involvement with mitochondrial function in the developing brain.

Association of rs363598 and rs360932 polymorphisms with autism spectrum disorder in the Bangladeshi children

PurposeAutism spectrum disorder (ASD) is a genetically complicated neuropsychiatric developmental disorder. As the pathogenesis of ASD is not clear till now, we have carried out the present case-control study to validate the association of GRIK1 rs363598 and intergenic rs360932 polymorphisms with ASD in the Bangladeshi children. Methods and materialsWe used Tetra-primer Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) to study 98 ASD children and 112 healthy volunteers from different institutes of Bangladesh. ResultsThe mean CARS score of the ASD children was 41.84 ± 9.28. The rs363598 SNP pretended a significantly higher risk for the progression of ASD with children carrying CC genotype, dominant and recessive models (OR = 4.34, p = .015; OR = 2.07, p = .015 and OR = 3.77, p = .026, respectively). Children with C allele (minor) significantly (p = .002) revealed 2.17 times elevated risk of autism compared to T allele. Again, intergenic rs360932 SNP presented a significantly elevated risk for the development of ASD with AA genotype, dominant and recessive models (OR = 2.34, p = .009; OR = 1.88, p = .026 and OR = 2.25, p = .009, respectively). Children with A allele (minor) had 2.00 times more risk compared to wild allele (p < .05). No significant association was found with heterozygous and overdominant models for both SNPs. ConclusionsThis study concludes that both rs363598 and rs360932 are significantly associated with the risk of ASD in Bangladeshi children. We believe that this case-control study will provide more opportunities to work on these SNPs on a large scale as well as other genes associated with ASD in future investigations.