1. Special Issue Announcement: Insights in the Field of Autism and Neurodevelopmental Disorders. ACS Pharmacol Transl Sci;2022 (Aug 12);5(8):518-519.

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2. Almog N, Kassel O, Levy N, Gabai T. Mapping the Dilemmas Parents Face with Disclosing Autism Diagnosis to their Child. J Autism Dev Disord;2022 (Aug 11):1-16.

The diagnosis of autism is often delivered solely to the parents, a practice that forces them to confront the dilemma of whether, when and how they should disclose it to the child. The present study seeks to probe deeper into the phenomenon of diagnosis disclosure and lead to a clearer understanding of the dilemmas parents? face. This article presents an analysis of a focus group and an online survey conducted with parents. The analysis produced a model that maps parents’ dilemmas regarding diagnosis disclosure to their child. The dilemmas, found to be complex and interconnected, concern the invisible nature of autism, the word autism and stigma, time motif, child’s environment, the act of disclosure itself, and the child’s personal narrative.

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3. Bevan S, Harris K, Maeder-Chieffo S, Reswebber E, Lanahan D, Souders M. Positive Healthcare Encounters for Children With Autism Spectrum Disorder: Accommodations During Surgical Procedures. J Perianesth Nurs;2022 (Aug 12)

Children with autism spectrum disorder have unique needs during medical procedures involving anesthesia. However, with early patient identification, provider champions can adapt their practice to better serve this population, thereby improving patient satisfaction and outcomes. This article describes a novel protocol developed by an anesthesia resource center to modify care for children with autism spectrum disorder and their families. This information serves as a template for perianesthesia nurses and advanced care providers to implement practice accommodations. Two case examples, based on parent interviews and chart review, are presented to exemplify this protocol.

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4. Green HL, Shen G, Franzen RE, McNamee M, Berman JI, Mowad TG, Ku M, Bloy L, Liu S, Chen YH, Airey M, McBride E, Goldin S, Dipiero MA, Blaskey L, Kuschner ES, Kim M, Konka K, Roberts TPL, Edgar JC. Differential Maturation of Auditory Cortex Activity in Young Children with Autism and Typical Development. J Autism Dev Disord;2022 (Aug 12):1-14.

Maturation of auditory cortex neural encoding processes was assessed in children with typical development (TD) and autism. Children 6-9 years old were enrolled at Time 1 (T1), with follow-up data obtained ~ 18 months later at Time 2 (T2), and ~ 36 months later at Time 3 (T3). Findings suggested an initial period of rapid auditory cortex maturation in autism, earlier than TD (prior to and surrounding the T1 exam), followed by a period of faster maturation in TD than autism (T1-T3). As a result of group maturation differences, post-stimulus group differences were observed at T1 but not T3. In contrast, stronger pre-stimulus activity in autism than TD was found at all time points, indicating this brain measure is stable across time.

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5. Ince R, Glasby J, Miller R, Glasby AM. ‘Why are we stuck in hospital?’ Understanding delayed hospital discharges for people with learning disabilities and/or autistic people in long-stay hospitals in the UK. Health Soc Care Community;2022 (Aug 11)

Despite longstanding efforts at de-institutionalisation, around 2000 people with learning disabilities and/or autistic people in England currently live in hospital settings, amidst reports of protracted stays, limited progress towards living more ordinary lives and scandals of abuse and poor care. Yet, there is relatively little research on why people with learning disabilities and/or autistic people are delayed in hospitals, and what exists has significant limitations. In particular, previous studies have rarely talked directly to people with learning disabilities and/or autistic people, their families and frontline staff about their experiences of living or working in such settings, the barriers to discharge and what would help more people to lead chosen lifestyles. This paper presents the findings of a structured literature review conducted between January and March 2021 on delayed discharges of people with learning disabilities in long-stay hospital settings. It investigated: the proportion of people with learning disabilities delayed in long-stay hospital settings, the suggested reasons for these delays and the proposed solutions. The literature reported delays for 11%-80% of inpatients in different settings. The reasons reported are related either to particular characteristics of the person (which we find problematic) or limitations of the system supporting them. However, delays were defined and reported inconsistently, reasons usually lacked depth and detail, and the majority of included studies did not engage directly with the people living in long-stay settings, their families or frontline staff. Without listening to these voices, genuine solutions will be difficult to find.

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6. Laubscher E, Barwise A, Light J. Effect of Video Augmentative and Alternative Communication Technology on Communication During Play With Peers for Children With Autism Spectrum Disorder. Lang Speech Hear Serv Sch;2022 (Aug 11):1-16.

PURPOSE: Children with autism spectrum disorder (ASD) are at risk for exclusion from play with their peers due to difficulty with communication skills. Video augmentative and alternative communication (AAC) technology has the potential to support communication within the context of play using videos with integrated visual scene displays. This study investigated the effect of a video AAC intervention on the number of turns in which children with ASD demonstrated symbolic communication during interactions with a peer without disabilities. Maintenance of skills, generalization to untrained play scenarios, and stakeholder perceptions of the video AAC technology were also investigated. METHOD: This study used a single-case, multiple-probe design across participant dyads. It included baseline, intervention, maintenance, and generalization phases. Six children with ASD and six peers participated in the study. RESULTS AND CONCLUSIONS: All six participants with ASD demonstrated an increase in the number of turns in which they demonstrated at least one symbolic communication act following intervention, although one participant demonstrated variability in baseline performance, making it difficult to draw conclusions. Results provide preliminary evidence that instruction with video AAC technology can support communication for children with ASD during play interactions with peers.

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7. Mai TL, Chen CY, Chen YC, Chiang TW, Chuang TJ. Trans-genetic effects of circular RNA expression quantitative trait loci and potential causal mechanisms in autism. Mol Psychiatry;2022 (Aug 12)

Genetic risk variants and transcriptional expression changes in autism spectrum disorder (ASD) were widely investigated, but their causal relationship remains largely unknown. Circular RNAs (circRNAs) are abundant in brain and often serve as upstream regulators of mRNAs. By integrating RNA-sequencing with genotype data from autistic brains, we assessed expression quantitative trait loci of circRNAs (circQTLs) that cis-regulated expression of nearby circRNAs and trans-regulated expression of distant genes (trans-eGenes) simultaneously. We thus identified 3619 circQTLs that were also trans-eQTLs and constructed 19,804 circQTL-circRNA-trans-eGene regulatory axes. We conducted two different types of approaches, mediation and partial correlation tests (MPT), to determine the axes with mediation effects of circQTLs on trans-eGene expression through circRNA expression. We showed that the mediation effects of the circQTLs (trans-eQTLs) on circRNA expression were positively correlated with the magnitude of circRNA-trans-eGene correlation of expression profile. The positive correlation became more significant after adjustment for the circQTLs. Of the 19,804 axes, 8103 passed MPT. Meanwhile, we performed causal inference test (CIT) and identified 2070 circQTL-trans-eGene-ASD diagnosis propagation paths. We showed that the CIT-passing genes were significantly enriched for ASD risk genes, genes encoding postsynaptic density proteins, and other ASD-relevant genes, supporting the relevance of the CIT-passing genes to ASD pathophysiology. Integration of MPT- and CIT-passing axes further constructed 352 circQTL-circRNA-trans-eGene-ASD diagnosis propagation paths, wherein the circRNA-trans-eGene axes may act as causal mediators for the circQTL-ASD diagnosis associations. These analyses were also successfully applied to an independent dataset from schizophrenia brains. Collectively, this study provided the first framework for systematically investigating trans-genetic effects of circQTLs and inferring the corresponding causal relations in diseases. The identified circQTL-circRNA-trans-eGene regulatory interactions, particularly the internal modules that were previously implicated in the examined disorders, also provided a helpful dataset for further investigating causative biology and cryptic regulatory mechanisms underlying the neuropsychiatric diseases.

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8. Mihailescu I, Andrei LE, Frunza AA, Manea M, Rad F. Computer-Based Assessment and Self-Report Measures of Executive Functions in High-Functioning Adults with Autism. Brain Sci;2022 (Aug 12);12(8)

This study analyzes the profile of executive functions (EF) in high-functioning adults with autism (HFA), both in terms of performance on four computer-based tasks, as well as how these functions are perceived by the individuals through self-reporting measures. The study included 64 participants: 32 individuals with HFA, and 32 typically developing controls. Four CANTAB tasks were used (assessing spatial working memory, planning, visual memory, and inhibition), as well as a self-reported measure of executive functions (BDEFS) and a scale for the severity of autism symptoms (RAADS-R). The participants in the ASD group performed significantly lower than the control group on all four computer-based tasks, as measured by the total number of errors made (for the spatial working memory, visual memory, and inhibition tasks) and the number of problems solved at the first choice (for the planning task). No correlation was found in the ASD group between the severity of autism symptoms and the computer-based measures. These findings provide evidence that HFA adults may have various executive functioning impairments, and subsequent daily life problems, but these deficits do not necessarily correlate with the severity of core ASD symptoms.

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9. Milberger S, Marsack-Topolewski C, Janks E, Anderson N, Bray M, Samuel PS. Evaluating the Benefits of a Family Support Program on the Health and Well-Being of Aging Family Caregivers of Adults with Intellectual and Developmental Disabilities. J Gerontol Soc Work;2022 (Aug 11):1-20.

Providing care to a family member with intellectual and developmental disabilities (I/DD) takes a toll on the health of the caregiver and the family, especially as they age. Research shows that peer mediated family support programs can improve caregiver health and well-being. To date, most family support programs have focused on family caregivers of children and youth with I/DD. The purpose of this study was to examine the benefits of participating in the Michigan Older Caregivers of Emerging Adults with Autism and Neurodevelopmental Disabilities (MI-OCEAN) family support program grounded in the Family Quality of Life (FQOL) framework. Specifically, we examined the effect of participation on health care utilization, caregiver well-being, and perceptions of global FQOL for older caregivers of adults with I/DD. Quantitative analysis of data gathered from 82 caregivers (age 50 and older) indicated that study participation was associated with increased use of Medicaid and improved caregiver well-being (reduced burden, stress, depression; increased health satisfaction and FQOL). Future research is needed to examine the long-term impact of the family support programs in improving the health and well-being of older caregivers of adults with I/DD.

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10. Ong JH, Liu F. Probabilistic Learning of Cue-Outcome Associations is not Influenced by Autistic Traits. J Autism Dev Disord;2022 (Aug 11):1-13.

According to Bayesian/predictive coding models of autism, autistic individuals may have difficulties learning probabilistic cue-outcome associations, but empirical evidence has been mixed. The target cues used in previous studies were often straightforward and might not reflect real-life learning of such associations which requires learners to infer which cue(s) among many to track. Across two experiments, we compared adult learners with varying levels of autistic traits on their ability to infer the correct cue to learn probabilistic cue-outcome associations when explicitly instructed to do so or when exposed implicitly. We found no evidence for the effect of autistic traits on probabilistic learning accuracy, contrary to the predictions of Bayesian/predictive coding models. Implications for the current Bayesian/predictive coding models are discussed.

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11. Robinson-Agramonte MLA, Michalski B, Vidal-Martinez B, Hernández LR, Santiesteban MW, Fahnestock M. BDNF, proBDNF and IGF-1 serum levels in naïve and medicated subjects with autism. Sci Rep;2022 (Aug 12);12(1):13768.

Brain-derived neurotrophic factor (BDNF) and insulin-like growth factor 1 (IGF-1) promote the development and maintenance of neural circuits. Alterations in these factors might contribute to autism spectrum disorder (ASD). We asked whether serum BDNF, proBDNF, and IGF-1 levels are altered in an ASD population compared to controls. We measured serum BDNF, proBDNF, and IGF-1 immunoreactive protein in boys and girls aged 5-15 years old with mild to moderate ASD and non-autistic controls by ELISA. IGF-1 was increased in ASD serum compared to controls and was correlated with age and with CARS scores. Serum BDNF levels did not differ between groups, however, proBDNF serum levels were decreased in subjects with ASD compared to non-autistic controls. Medicated, but not unmedicated, ASD subjects exhibited lower serum proBDNF levels compared to controls, while neither IGF-1 nor BDNF levels differed between treatment groups. These data support the involvement of proBDNF and IGF-1 in the pathogenesis and treatment of autism.

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12. Selick A, Durbin J, Hamdani Y, Rayner J, Lunsky Y. Accessibility of Virtual Primary Care for Adults With Intellectual and Developmental Disabilities During the COVID-19 Pandemic: Qualitative Study. JMIR Form Res;2022 (Aug 22);6(8):e38916.

BACKGROUND: The COVID-19 pandemic has led to an unprecedented increase in the delivery of virtual primary care. Adults with intellectual and developmental disabilities (IDDs) have complex health care needs, and little is known about the value and appropriateness of virtual care for this patient population. OBJECTIVE: The aim of this study was to explore the accessibility of virtual primary care for patients with IDDs during the pandemic. METHODS: We conducted semistructured interviews with 38 participants in Ontario, Canada between March and November 2021. A maximum variation sampling strategy was used to achieve a diverse sample including 11 adults with IDDs, 13 family caregivers, 5 IDD support staff members, and 9 primary care physicians. An iterative mixed inductive and deductive thematic analysis approach was used to code the data and synthesize higher-level themes. The analysis was informed by the Levesque Patient-Centered Access to Health Care Framework. RESULTS: We identified themes related to 4 of 5 access-to-care dimensions that highlighted both the benefits and challenges of virtual care for adults with IDDs. The benefits included saving time spent traveling and waiting; avoiding anxiety and challenging behavior for patients who struggle to attend in-person visits; allowing caregivers who live far away from their loved ones to participate; reducing illness transmission; and allowing health care providers to see patients in their home environments. The challenges included lack of access to necessary technology, lack of comfort or skill using technology, and lack of nonverbal communication; difficulty engaging and establishing rapport; patient exclusion from the health care encounter; and concerns about privacy and confidentiality. An overarching theme was that « one size does not fit all, » and the accessibility of virtual care was dependent on the interaction between the following 5 categories of factors: patient characteristics, patient context, caregiver characteristics, service context, and reason for a particular primary care visit. Though virtual care was not always appropriate, in some cases, it dramatically improved patients’ abilities to access necessary health care. CONCLUSIONS: This study suggests that a flexible patient-centered system including multiple delivery modalities is needed to ensure all patients have access to primary care. Implementing this system will require improved virtual care platforms, access to technology for patients and caregivers, training for primary care providers, and appropriately aligned primary care funding models.

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13. Sheela P, Puthankattil SD. MVME-RCMFDE framework for discerning hyper-responsivity in Autism Spectrum Disorders. Comput Biol Med;2022 (Aug 12);149:105958.

BACKGROUND: Autism Spectrum Disorder (ASD), characterized by impaired sensory processing, has a wide range of clinical heterogeneity, which handicaps effective therapeutic interventions. Therefore, it is imperative to develop potential mechanisms for delineating clinically meaningful subgroups, so as to provide individualised medical treatment. In this study, an attempt is being made to differentiate the hyper-responsive subgroup from ASD by analysing the complexity pattern of Visual Evoked Potentials (VEPs), recorded from a group of 30 ASD participants, in the presence of vertical achromatic sinewave gratings at varying contrast conditions of low (5%), medium (50%) and high (90%). METHOD: This study proposes a new diagnostic framework incorporating a novel signal decomposition method termed as Modified Variational Mode Extraction (MVME) and a multiscale entropy approach. MVME segments the signal into five constituent modes with less spectral overlap in lower frequencies. Refined Composite Multiscale Fluctuation-based Dispersion entropy (RCMFDE) is extracted from these constituent modes, thereby facilitating the identification of hyper-responsive subgroup in ASD. RESULTS: When tested on both simulated and real VEPs, MVME displays appreciable performance in terms of root mean square error and minimal spectral overlap in the lower frequencies, in comparison with the other state-of-the-art techniques. Relative Complexity analysis with RCMFDE exhibits a rising trend in 43%-50% of ASD in modes 1, 2, 3 and 4. CONCLUSION: The proposed MVME-RCMFDE approach is efficient in discriminating the hyper-responsive subgroup in ASD in multiple modes namely mode 1, 2, 3 and 4, which correspond to delta, theta, alpha and beta frequency bands of brain signals.

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14. Svalina MN, Rio CC, Kushner JK, Levy A, Baca SM, Guthman EM, Opendak M, Sullivan R, Restrepo D, Huntsman MM. Basolateral amygdala hyperexcitability is associated with precocious developmental emergence of fear-learning in Fragile X Syndrome. J Neurosci;2022 (Aug 12)

Fragile X Syndrome (FXS) is a neurodevelopmental disorder and the most common monogenic cause of intellectual disability, autism spectrum disorders (ASDs) and anxiety disorders. Loss of fragile x mental retardation protein (FMRP) results in disruptions of synaptic development during a critical period (CP) of circuit formation in the basolateral amygdala (BLA). However, it is unknown how these alterations impact microcircuit development and function. Using a combination of electrophysiologic and behavioral approaches in both male (Fmr1-/y) and female (Fmr1-/-) mice, we demonstrate that principal neurons (PNs) in the Fmr1KO BLA exhibit hyperexcitability during a sensitive period in amygdala development. This hyperexcitability contributes to increased excitatory gain in fear-learning circuits. Further, synaptic plasticity is enhanced in the BLA of Fmr1KO mice. Behavioral correlation demonstrates that fear-learning emerges precociously in the Fmr1KO mouse. Early life THIP intervention ameliorates fear-learning in Fmr1KO mice. These results suggest that CP plasticity in the amygdala of the Fmr1KO mouse may be shifted to earlier developmental timepoints.SIGNIFICANCE STATEMENTIn these studies we identify early developmental alterations in principal neurons in the FXS BLA. We show that as early as P14, excitability and feed-forward excitation, and synaptic plasticity is enhanced in Fmr1KO lateral amygdala. This correlates with precocious emergence of fear-learning in the Fmr1KO mouse. Early life THIP intervention restores CP plasticity in WT mice and ameliorates fear-learning in the Fmr1KO mouse.

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15. Ursino M, Serra M, Tarasi L, Ricci G, Magosso E, Romei V. Bottom-up vs. top-down connectivity imbalance in individuals with high-autistic traits: An electroencephalographic study. Front Syst Neurosci;2022;16:932128.

Brain connectivity is often altered in autism spectrum disorder (ASD). However, there is little consensus on the nature of these alterations, with studies pointing to either increased or decreased connectivity strength across the broad autism spectrum. An important confound in the interpretation of these contradictory results is the lack of information about the directionality of the tested connections. Here, we aimed at disambiguating these confounds by measuring differences in directed connectivity using EEG resting-state recordings in individuals with low and high autistic traits. Brain connectivity was estimated using temporal Granger Causality applied to cortical signals reconstructed from EEG. Between-group differences were summarized using centrality indices taken from graph theory (in degree, out degree, authority, and hubness). Results demonstrate that individuals with higher autistic traits exhibited a significant increase in authority and in degree in frontal regions involved in high-level mechanisms (emotional regulation, decision-making, and social cognition), suggesting that anterior areas mostly receive information from more posterior areas. Moreover, the same individuals exhibited a significant increase in the hubness and out degree over occipital regions (especially the left and right pericalcarine regions, where the primary visual cortex is located), suggesting that these areas mostly send information to more anterior regions. Hubness and authority appeared to be more sensitive indices than the in degree and out degree. The observed brain connectivity differences suggest that, in individual with higher autistic traits, bottom-up signaling overcomes top-down channeled flow. This imbalance may contribute to some behavioral alterations observed in ASD.

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16. Wang M, Wang L, Yang B, Yuan L, Wang X, Potenza MN, Dong GH. Disrupted dynamic network reconfiguration of the brain functional networks of individuals with autism spectrum disorder. Brain Commun;2022;4(4):fcac177.

Human and animal studies on brain functions in subjects with autism spectrum disorder have confirmed the aberrant organization of functional networks. However, little is known about the neural features underlying these impairments. Using community structure analyses (recruitment and integration), the current study explored the functional network features of individuals with autism spectrum disorder from one database (101 individuals with autism spectrum disorder and 120 healthy controls) and tested the replicability in an independent database (50 individuals with autism spectrum disorder and 74 healthy controls). Additionally, the study divided subjects into different age groups and tested the features in different subgroups. As for recruitment, subjects with autism spectrum disorder had lower coefficients in the default mode network and basal ganglia network than healthy controls. The integration results showed that subjects with autism spectrum disorder had a lower coefficient than healthy controls in the default mode network-medial frontal network and basal ganglia network-limbic networks. The results for the default mode network were mostly replicated in the independent database, but the results for the basal ganglia network were not. The results for different age groups were also analysed, and the replicability was tested in different databases. The lower recruitment in subjects with autism spectrum disorder suggests that they are less efficient at engaging these networks when performing relevant tasks. The lower integration results suggest impaired flexibility in cognitive functions in individuals with autism spectrum disorder. All these findings might explain why subjects with autism spectrum disorder show impaired brain networks and have important therapeutic implications for developing potentially effective interventions.

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17. Wang S, Chen D, Yoon I, Klich S, Chen A. Bibliometric analysis of research trends of physical activity intervention for autism spectrum disorders. Front Hum Neurosci;2022;16:926346.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social impairment, restricted interests, and repetitive stereotyped behaviors. At present, its pathogenesis has not been fully understood. Various methods are used for clinical treatment and intervention, among which physical activity (PA) intervention also has an obvious effect. This study has used bibliometric methods and visual analysis methods to analyze 885 studies of PA intervention in ASD from 2003 to 2022 in the Web of Science (WoS) database in order to provide theoretical support for the follow-up research on the effect of PA with ASD. The main findings of this study are as follows. First, the literature on PA interventions in ASD research showed a growing trend. The leading institution in this field is the University of Delaware, forming a core group of authors represented by authors such as Sean Healy and Carol Curtin et al. Second, the research focus of this research area mainly includes PA interventions for children and adolescents with ASD. PA can improve symptoms such as stereotyped behaviors and motor function in patients with ASD as well as can reduce childhood obesity rates and improve quality of life. Third, skill, youth, prevalence, and meta-analysis systematic reviews were found. It is the long-term concern and focus of researchers. In conclusion, the current research is only a short-term analysis, and it is not possible to verify the long-term effect; thus, future data analysis should evaluate and explore the long-term effects of PA interventions on ASD including cohort and longitudinal study types focused on the rehabilitation of patients with ASD. Moreover, testing the sustainability of benefits for children with ASD and constructing a multidimensional exercise integrated intervention model are the main directions for future research in this field.

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18. Wang T, Feng J, Xue Y, Shan L, Jia F, Yue X. Feeding problems, age of introduction of complementary food and autism symptom in children with autism spectrum disorder. Front Pediatr;2022;10:860947.

In this cross-sectional study, 84 children with autism spectrum disorder (ASD) and 77 healthy subjects showing typical development (TD) were reviewed. Parents reviewed the age of introduction of complementary foods (CFs), completed a demographic, diet behavior questionnaire and the Autism Behavior Checklist (ABC). The results showed that the age of introduction of CFs was later in children with ASD than their TD counterparts. The age of introduction of CFs in ASD group was positively correlated with feeding problem. While the correlation was not observed in TD group. Children in the ASD group had higher total scores of the diet behavior questionnaire and all four subdomains (poor eating ability, mealtime eating behavior, food selectivity, and parental feeding behavior). ASD symptoms were clearly associated with feeding problems. The sensory subdomain score in ABC was positively correlated with poor eating ability, mealtime behavior and total score of the diet behavior questionnaire. The social self-care subdomain score was positively correlated with food selectivity. The interaction subdomain score was negative correlated with parental feeding behavior and total score of the diet behavior questionnaire. Further studies are required to establish the utility of delayed CFs introduction and/or early feeding problems as potential indicators of ASD.

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19. Zhang Z, Liu J, Jiang G, Yu H. Vitamin D receptor gene variants and serum vitamin D in childhood autism spectrum disorder. Mol Biol Rep;2022 (Aug 11)

OBJECTIVE: This study aimed to examine the correlation between polymorphisms in vitamin D receptor (VDR) gene and serum vitamin D, and to determine their role in predicting childhood Autism Spectrum Disorder (ASD). METHODS: Children with ASD and age- and gender- matched healthy controls were recruited from the Chinese Han population. Their serum 25(OH) vitamin D was measured using competitive chemiluminescent immunoassays. The TaqMan probe approach was applied to analyze the common VDR SNPs rs731236 (Taq1), rs11568820 (Cdx2), rs1544410 (BsmI), and rs228570 (FokI). Both linear and logistic regressions were applied in data analysis. RESULTS: A total of 269 children with ASD and 320 healthy controls were recruited. Children with ASD had significantly lower levels of serum vitamin D and a significantly higher rate of vitamin D deficiency (< 20 ng/ml) compared to healthy controls (67.7% vs 34.1%). All these examined VDR SNPs were not correlated with serum vitamin D concentrations or vitamin D deficiency. Logistic regression analysis revealed that rs731236 and serum vitamin D were associated with childhood ASD. The area under the receiver operating characteristic (ROC) curve was 0.7285 for serum vitamin D. Children with both T/C genotype of rs731236 and vitamin D deficiency had a higher risk of being diagnosed with ASD. CONCLUSION: All examined common VDR SNPs are not correlated with serum vitamin D concentrations or vitamin D deficiency. The combination of T/C phenotype of rs731236 and vitamin D deficiency are associated with a higher risk of childhood ASD. Vitamin D is a promising target in the prevention and treatment of this disease.

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