1. Barbaresi W, Cacia J, Friedman S, Fussell J, Hansen R, Hofer J, Roizen N, Stein REK, Vanderbilt D, Sideridis G. Clinician Diagnostic Certainty and the Role of the Autism Diagnostic Observation Schedule in Autism Spectrum Disorder Diagnosis in Young Children. JAMA pediatrics. 2022.

IMPORTANCE: Autism spectrum disorder (ASD) affects 1 in 44 children. The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured observation developed for use in research but is considered a component of gold standard clinical diagnosis. The ADOS adds time and cost to diagnostic assessments. OBJECTIVE: To evaluate consistency between clinical diagnosis (index ASD diagnosis) and diagnosis incorporating the ADOS (reference standard ASD diagnosis) and to examine clinician and child factors that predict consistency between index diagnoses and reference standard diagnoses. DESIGN, SETTING, AND PARTICIPANTS: This prospective diagnostic study was conducted between May 2019 and February 2020. Developmental-behavioral pediatricians (DBPs) made a diagnosis based on clinical assessment (index ASD diagnosis). The ADOS was then administered, after which the DBP made a second diagnosis (reference standard ASD diagnosis). DBPs self-reported diagnostic certainty at the time of the index diagnoses and reference standard diagnoses. The study took place at 8 sites (7 US and 1 European) that provided subspecialty assessments for children with concerns for ASD. Participants included children aged 18 months to 5 years, 11 months, without a prior ASD diagnosis, consecutively referred for possible ASD. Among 648 eligible children, 23 refused, 376 enrolled, and 349 completed the study. All 40 eligible DBPs participated. EXPOSURES: ADOS administered to all child participants. MAIN OUTCOMES AND MEASURES: Index diagnoses and reference standard diagnoses of ASD (yes/no). RESULTS: Among the 349 children (279 [79.7%] male; mean [SD] age, 39.9 [13.4] months), index diagnoses and reference standard diagnoses were consistent for 314 (90%) (ASD = 250; not ASD = 64) and changed for 35. Clinician diagnostic certainty was the most sensitive and specific predictor of diagnostic consistency (area under curve = 0.860; P < .001). In a multilevel logistic regression, no child or clinician factors improved prediction of diagnostic consistency based solely on clinician diagnostic certainty at time of index diagnosis. CONCLUSIONS AND RELEVANCE: In this prospective diagnostic study, clinical diagnoses of ASD by DBPs with vs without the ADOS were consistent in 90.0% of cases. Clinician diagnostic certainty predicted consistency of index diagnoses and reference standard diagnoses. This study suggests that the ADOS is generally not required for diagnosis of ASD in young children by DBPs and that DBPs can identify children for whom the ADOS may be needed.

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2. Brister D, Rose S, Delhey L, Tippett M, Jin Y, Gu H, Frye RE. Metabolomic Signatures of Autism Spectrum Disorder. Journal of personalized medicine. 2022; 12(10).

Autism Spectrum Disorder (ASD) is associated with many variations in metabolism, but the ex-act correlates of these metabolic disturbances with behavior and development and their links to other core metabolic disruptions are understudied. In this study, large-scale targeted LC-MS/MS metabolomic analysis was conducted on fasting morning plasma samples from 57 children with ASD (29 with neurodevelopmental regression, NDR) and 37 healthy controls of similar age and gender. Linear model determined the metabolic signatures of ASD with and without NDR, measures of behavior and neurodevelopment, as well as markers of oxidative stress, inflammation, redox, methylation, and mitochondrial metabolism. MetaboAnalyst ver 5.0 (the Wishart Research Group at the University of Alberta, Edmonton, Canada) identified the pathways associated with altered metabolic signatures. Differences in histidine and glutathione metabolism as well as aromatic amino acid (AAA) biosynthesis differentiated ASD from controls. NDR was associated with disruption in nicotinamide and energy metabolism. Sleep and neurodevelopment were associated with energy metabolism while neurodevelopment was also associated with purine metabolism and aminoacyl-tRNA biosynthesis. While behavior was as-sociated with some of the same pathways as neurodevelopment, it was also associated with alternations in neurotransmitter metabolism. Alterations in methylation was associated with aminoacyl-tRNA biosynthesis and branched chain amino acid (BCAA) and nicotinamide metabolism. Alterations in glutathione metabolism was associated with changes in glycine, serine and threonine, BCAA and AAA metabolism. Markers of oxidative stress and inflammation were as-sociated with energy metabolism and aminoacyl-tRNA biosynthesis. Alterations in mitochondrial metabolism was associated with alterations in energy metabolism and L-glutamine. Using behavioral and biochemical markers, this study finds convergent disturbances in specific metabolic pathways with ASD, particularly changes in energy, nicotinamide, neurotransmitters, and BCAA, as well as aminoacyl-tRNA biosynthesis.

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3. Cao H, Tang J, Liu Q, Huang J, Xu R. Autism-like behaviors regulated by the serotonin receptor 5-HT2B in the dorsal fan-shaped body neurons of Drosophila melanogaster. European journal of medical research. 2022; 27(1): 203.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and repetitive stereotyped behaviors. Previous studies have reported an association of serotonin or 5-hydroxytryptamine (5-HT) with ASD, but the specific receptors and neurons by which serotonin modulates autistic behaviors have not been fully elucidated. METHODS: RNAi-mediated knockdown was done to destroy the function of tryptophan hydroxylase (Trh) and all the five serotonin receptors. Given that ubiquitous knockdown of 5-HT2B showed significant defects in social behaviors, we applied the CRISPR/Cas9 system to knock out the 5-HT2B receptor gene. Social space assays and grooming assays were the major methods used to understand the role of serotonin and related specific receptors in autism-like behaviors of Drosophila melanogaster. RESULTS: A close relationship was identified between serotonin and autism-like behaviors reflected by increased social space distance and high-frequency repetitive behavior in Drosophila. We further utilized the binary expression system to knock down all the five 5-HT receptors, and observed the 5-HT2B receptor as the main receptor responsible for the normal social space and repetitive behavior in Drosophila for the specific serotonin receptors underlying the regulation of these two behaviors. Our data also showed that neurons in the dorsal fan-shaped body (dFB), which expressed 5-HT2B, were functionally essential for the social behaviors of Drosophila. CONCLUSIONS: Collectively, our data suggest that serotonin levels and the 5-HT2B receptor are closely related to the social interaction and repetitive behavior of Drosophila. Of all the 5 serotonin receptors, 5-HT2B receptor in dFB neurons is mainly responsible for serotonin-mediated regulation of autism-like behaviors.

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4. Chien YL, Wu CS, Chang YC, Cheong ML, Yao TC, Tsai HJ. Associations between parental psychiatric disorders and autism spectrum disorder in the offspring. Autism research : official journal of the International Society for Autism Research. 2022; 15(12): 2409-19.

Whether parental psychiatric disorders are associated with autism spectrum disorder (ASD) in offspring has remained inconclusive. We examined the associations of parental psychiatric disorders with ASD in offspring. This population-based case-control study used Taiwan’s National Health Insurance Research Database to identify a cohort of children born from 2004 to 2017 and their parents. A total of 24,279 children with ASD (diagnostic ICD-9-CM code: 299.x or ICD-10 code F84.x) and 97,715 matched controls were included. Parental psychiatric disorders, including depressive disorders, bipolar spectrum disorders, anxiety disorders, obsessive-compulsive disorder, schizophrenia, substance use disorders, autism spectrum disorder, attention-deficit hyperactivity disorder (ADHD), and adjustment disorders were identified. Conditional logistic regressions with covariate adjustment were performed. The results suggest that parental diagnosis with any of the psychiatric disorders is associated with ASD in offspring (adjusted odds ratio [AOR] = 1.45, 95%CI: 1.40-1.51 for mothers; and AOR = 1.12, 95%CI: 1.08-1.17 for fathers). ASD in offspring was associated with schizophrenia, depressive disorders, obsessive-compulsive disorder, adjustment disorders, ADHD and ASD in both parents. The relationship between parental psychiatric disorders and the timing of the child’s birth and ASD diagnosis varied across the different psychiatric disorders. The present study provides supportive evidence that parental psychiatric disorders are associated with autistic children. Furthermore, because the associations between parental psychiatric disorders and the timing of child’s birth and ASD diagnosis varied across psychiatric disorders, the observed relationships may be affected by both genetic and environmental factors. Future studies are needed to disentangle the potential influence of genetic and environmental factors on the observed associations.

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5. Enav Y, Hardan AY, Gross JJ. Cognitive reappraisal training for parents of children with autism spectrum disorder. Frontiers in psychiatry. 2022; 13: 995669.

Parents of children with autism spectrum disorder (ASD) experience higher stress levels than those of typically developing children. The goal of the current study was to examine whether a mentalization-based intervention would enhance parental cognitive reappraisal, an adaptive form of emotion regulation associated with lower levels of stress. Findings from 27 parents who completed a short training indicated an improvement in cognitive reappraisal. In exploratory analyses, two different types of reappraisal were examined. The intervention-related improvement was found mainly with one type of reappraisal, namely reflective reappraisal that consist of cognitive reappraisal with mentalization characteristics. In light of the evidence indicating that high cognitive reappraisal and high reflective functioning are associated with quality caregiving, findings from the current study suggesting that a brief mentalization-based intervention supports ASD parents’ cognitive reappraisal with mentalization characteristics are promising and warrant further investigation.

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6. Etyemez S, Esler A, Kini A, Tsai PC, DiRienzo M, Maenner M, Lee LC. The role of intellectual disability with autism spectrum disorder and the documented cooccurring conditions: A population-based study. Autism research : official journal of the International Society for Autism Research. 2022; 15(12): 2399-408.

Previous research has identified that patterns of cooccurring conditions (CoCs) associated with autism spectrum disorder (ASD) differ based on the presence of intellectual disability (ID). This study explored the association of documented CoCs among 8-year-old children with ASD and ID (ASD+ID, n = 2416) and ASD without ID (ASD-ID, n = 5372) identified by the Autism and Developmental Disabilities Monitoring Network, surveillance years (SYs) 2012 and 2014. After adjusting for demographic variables, record source, surveillance site, and SY, children with ASD+ID, as compared with children with ASD-ID, were more likely to have histories of nonspecific developmental delays and neurological disorders documented in their records but were less likely to have behavioral and psychiatric disorders. ID plays a key role on how children with ASD would experience other CoCs. Our results emphasize how understanding the pattern of CoCs in ASD+ID and ASD-ID can inform comprehensive and multidisciplinary approaches in assessment and management of children in order to develop targeted interventions to reduce possible CoCs or CoCs-related impairments.

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7. Galvin J, Evans EH, Talbot CV, Wilson C, Richards G. The associations between autistic traits and disordered eating/drive for muscularity are independent of anxiety and depression in females but not males. PloS one. 2022; 17(10): e0276249.

Previous research has shown a positive correlation between autistic traits and eating disorder symptoms, and this relationship appears to be independent of co-occurring mental health status. The current study followed a pre-registered analysis plan with the aim to investigate a previously unconsidered factor in the relationship between autistic traits and disorders of eating and body image: the drive for muscularity. Participants (N = 1068) completed the Autism Spectrum Quotient (AQ), Hospital Anxiety and Depression Scale (HADS), Eating Attitudes Test-26 (EAT-26) and Drive for Muscularity Scale (DMS). Positive correlations between AQ and EAT-26 and AQ and DMS were observed. In females, AQ remained significantly correlated with EAT-26 and DMS when controlling for co-occurring anxiety and depression symptoms, but this was not the case in males. These findings demonstrate the moderating role of sex, and the need to consider autistic traits in individuals diagnosed with, or at a heightened risk for, disorders of eating and body image.

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8. Ge H, Liu F, Yuen HK, Chen A, Yip V. Comprehension of Prosodically and Syntactically Marked Focus in Cantonese-Speaking Children With and Without Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

This study investigated the comprehension of prosodically and syntactically marked focus by 5- to 8-year-old Cantonese-speaking children with and without autism spectrum disorder (ASD). Children listened to question-answer dialogues while looking at pictures depicting the scenarios, and judged whether the answers were correct responses to the questions. The results showed that children with ASD exhibited typically developing (TD)-like performance in the use of syntactic cues to understand focus, although they were significantly slower than their TD peers. However, children with ASD had more difficulties than their TD peers in utilizing prosodic cues in focus comprehension. These findings suggest that the comprehension difficulties found in children with ASD are domain-selective, and children with ASD are sensitive to language-specific focus marking strategies.

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9. Iannone LF, Gómez-Eguílaz M, De Caro C. Gut microbiota manipulation as an epilepsy treatment. Neurobiology of disease. 2022; 174: 105897.

Many studies have documented the important role of the gut microbiota (GM) in the regulation of several central nervous system (CNS) processes through the microbiota-gut-brain (MGB) axis. This latter represents the connection between the CNS, the enteric nervous system, the gut and its microbiota through several ascending and descending pathways. The variation of the GM composition is associated with the pathogenesis and/or progression as well as severity of various neuropsychiatric/neurological diseases such as depression, autism spectrum disorder, multiple sclerosis, Parkinson’s, and Alzheimer’s diseases. Recently, changes in the bacterial composition of the GM have also been linked to epilepsy and seizures, with some studies exploring the potential role of GM in the regulation of neuronal hyperexcitability, seizure occurrence and epileptogenesis. Accordingly, there are potential novel treatments which are currently being investigated such as probiotics, prebiotics and symbiotic that may represent innovative therapeutic approaches. The aim of this review is to explore the effect of gut microbiota manipulation as a therapeutic strategy in epilepsy and the methodological challenges to design (translational) clinical trial investigating the gut microbiota.

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10. Jang WE, Park JH, Park G, Bang G, Na CH, Kim JY, Kim KY, Kim KP, Shin CY, An JY, Lee YS, Kim MS. Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis. Molecular psychiatry. 2022.

Autism spectrum disorder (ASD) is a major neurodevelopmental disorder in which patients present with core symptoms of social communication impairment, restricted interest, and repetitive behaviors. Although various studies have been performed to identify ASD-related mechanisms, ASD pathology is still poorly understood. CNTNAP2 genetic variants have been found that represent ASD genetic risk factors, and disruption of Cntnap2 expression has been associated with ASD phenotypes in mice. In this study, we performed an integrative multi-omics analysis by combining quantitative proteometabolomic data obtained with Cntnap2 knockout (KO) mice with multi-omics data obtained from ASD patients and forebrain organoids to elucidate Cntnap2-dependent molecular networks in ASD. To this end, a mass spectrometry-based proteometabolomic analysis of the medial prefrontal cortex in Cntnap2 KO mice led to the identification of Cntnap2-associated molecular features, and these features were assessed in combination with multi-omics data obtained on the prefrontal cortex in ASD patients to identify bona fide ASD cellular processes. Furthermore, a reanalysis of single-cell RNA sequencing data obtained from forebrain organoids derived from patients with CNTNAP2-associated ASD revealed that the aforementioned identified ASD processes were mainly linked to excitatory neurons. On the basis of these data, we constructed Cntnap2-associated ASD network models showing mitochondrial dysfunction, axonal impairment, and synaptic activity. Our results may shed light on the Cntnap2-dependent molecular networks in ASD.

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11. Kristofik A, Johnson KL. Rehabilitation Services for Young Adults with ASD. Neuropsychiatric disease and treatment. 2022; 18: 2361-6.

Adolescents with Autism Spectrum Disorders (ASD) and their families face many obstacles when they conclude their secondary education. Pilot programs to support the development of life skills for young adults with autism, aiming to improve job outcomes and postsecondary educational prospects, have been increasing to meet the demand for support. Despite an increase in empirically based reports on pilot programs, data show significant differences in the efficacy of existing pilot programs, even when empirically supported methods are applied to programming. To understand how to best utilize existing data to improve outcomes for young adults with ASD transitioning into university and the workforce, a critical review of existing pilot programs is provided. A call is made for the continuous dissemination of data regarding the efficacy of pilot programs as they continue to adjust methods based on available data, as is a call for more data on the effect of community partnerships between pilot programs and employers and universities.

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12. McDaniel J, Brady NC. The Influence of Communication Sample Length on Reliability and Convergent Validity of Vocal Measures Derived From the Communication Complexity Scale. Journal of speech, language, and hearing research : JSLHR. 2022; 65(10): 3881-9.

PURPOSE: This study examines the effects of communication sample length on the reliability and convergent validity of six vocal measures for children with autism spectrum disorder (ASD) with minimal verbal skills. The results are expected to inform recommendations for the length of communication samples for clinical and research purposes. METHOD: Participants included 31 children with ASD (24 boys and seven girls; M _age = 6;7 [years;months], SD = 17 months) with minimal verbal skills. We coded six vocal measures that focus on vocalizations and early word productions from the Communication Complexity Scale (CCS) scripted administration protocol. To evaluate reliability of different sample lengths, we calculated intraclass correlation coefficients between the full CCS sample and 1-, 3-, 7-, 10-, and 20-min samples. To examine convergent validity, we calculated correlations between the six vocal measures for each sample length. RESULTS: When coded from 10-min samples from the beginning of the CCS, all of the vocal measures exhibit adequate reliability with the full CCS sample. Some vocal measures exhibit adequate reliability with samples as short as 3 min. For convergent validity, all of the correlations between the vocal measures exceed .40 and are statistically significant for the 10-min samples except for some of the correlations with the proportion of communicative vocalizations. Similar results were found for other sample lengths. CONCLUSION: Findings support coding 10-min segments from the CCS scripted administration protocol to evaluate the vocal development skills of children with ASD with minimal verbal skills. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.20999938.

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13. Ong JH, Liu F. EXPRESS: Frequent experience with face coverings for 10 months improves emotion perception among individuals with high autistic traits: A repeated cross-sectional study. Quarterly journal of experimental psychology (2006). 2022: 17470218221135585.

Face coverings pose difficulties for emotion recognition, but it is unclear whether improvement in recognising emotions from the eyes is possible with experience and whether this might be dependent on one’s autistic traits, given the associations between high autistic traits and poorer emotion perception and reduced gaze to the eye region. In this preregistered study, participants completed a forced-choice emotion recognition task with photographs of eyes and demographic questionnaires that measure their autistic traits and their interaction frequency with others wearing face coverings at two time points: once at the start of the face covering mandate and again 10 months later. We found that after 10 months, individuals with high autistic traits as a cohort recognise emotions from just the eyes better as a function of their experience with others wearing face coverings, suggesting that emotion perception is malleable even for those who have difficulties with emotion perception.

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14. Petinou K, Hus Y, Segal O. Focus on Issues and Solutions in Autism Spectrum Disorders (ASD). Neuropsychiatric disease and treatment. 2022; 18: 2273-7.

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15. Shirayama Y, Matsumoto K, Osone F, Hara A, Guan S, Hamatani S, Muneoka K, Sato K, Okada A, Yokokawa T. The Lack of Alterations in Metabolites in the Medial Prefrontal Cortex and Amygdala, but Their Associations with Autistic Traits, Empathy, and Personality Traits in Adults with Autism Spectrum Disorder: A Preliminary Study. Journal of autism and developmental disorders. 2022.

Proton magnetic resonance spectroscopy ((1)H-MRS) has shown inconsistent alterations in brain metabolites of adults with autism spectrum disorder (ASD). We investigated brain metabolites in the medial prefrontal cortex and amygdala of 24 drug-naive adults with ASD and no intellectual disability and 24 non-ASD control subjects, using 3 T (1)H-MRS. Adults with ASD showed no significant differences from control in glutamate, glutamate plus glutamine, N-acetylaspartate, glycerophosphorylcholine plus phosphorylcholine, creatine plus phosphocreatine, or myo-inositol in either region. However, ASD subjects did show significant correlations of localized brain metabolites with autistic traits, empathy deficits, and personality traits using the Autism-Spectrum Quotient, Questionnaire of Cognitive and Affective Empathy, Interpersonal Reactivity Index, and NEO Personality Inventory-Revised. These findings should be taken as preliminary or exploratory.

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16. Skjoldborg NM, Bender PK, Jensen de López KM. The Efficacy of Head-Mounted-Display Virtual Reality Intervention to Improve Life Skills of Individuals with Autism Spectrum Disorders: A Systematic Review. Neuropsychiatric disease and treatment. 2022; 18: 2295-310.

Challenges in life skills in individuals with autism spectrum disorders (ASD) are associated with dependency on others and increased isolation from peers. In recent years, interventions using virtual reality (VR) technology have been proposed to improve life skills in ASD populations. This systematic review seeks to evaluate the efficacy of employing VR interventions mediated via head-mounted displays (HMD) for the improvement of life skills in individuals with ASD. Several databases were searched and a narrative synthesis was conducted to examine the findings of the included studies. Eight studies including a total of 58 participants were deemed relevant for this systematic review. The methodological quality of the included studies was assessed via the use of critical appraisal tools. Results were generally positive, with one study reporting statistically significant results, and one study not reporting any change in abilities. The remaining six studies reported varying degrees of life skill improvement. The studies were characterized by methodological issues, such as very low sample sizes. The findings of this systematic review indicate some potential for HMD VR interventions in the improvement of life skills in individuals with ASD. However, this review also highlights the current lack of methodologically strong study designs, which prohibits any firm conclusions. Findings are discussed regarding methodological recommendations for further research as well as practical implications for life skills interventions for individuals with ASD.

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17. Tomas V, Finlay B, Gentles SJ, Campbell M, Gill-Badesha D, Abel C, Zwicker JD, Lai J. Development of Policy Recommendations to Support a National Autism Strategy: Case of a Virtual and Inclusive Stakeholder Engagement Process. International journal of health policy and management. 2022.

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18. Wantzen P, Clochon P, Doidy F, Wallois F, Mahmoudzadeh M, Desaunay P, Mille C, Guilé JM, Guénolé F, Eustache F, Baleyte JM, Guillery-Girard B. Correction: EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism. Journal of neurodevelopmental disorders. 2022; 14(1): 55.

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19. Westby C. Nature and Effects of Autobiographical Memory Issues in Persons with Autism Spectrum Disorders. Neuropsychiatric disease and treatment. 2022; 18: 2279-93.

This comprehensive thematic review focuses on autobiographical memory (AM) in individuals with Autism spectrum disorder (ASD) with the overarching aim of informing and instructing stakeholders on this important memory structure that is often compromised in individuals with ASD. Accordingly, articles that best address the theme were selected from legitimate publishers with prime peer-reviewed journals. ASD is recognized as a neurodevelopmental disorder, often impacting on many aspects of language, cognitive, and social-emotional development. Considerable research has documented the problems children and adults with ASD frequently exhibit in language and its offshoots, the development of executive function, and theory of mind or the ability to reflect on the thoughts and feelings of self and others. These studies resulted in numerous assessments and intervention strategies designed to target the noted issues, among them problems with AM. Specialists in a variety of medical, psychological, and educational fields are exploring the nature and development of AM across the lifespan and the effects of AM weaknesses on cognitive and social-emotional factors such as self-regulation, social interactions, and self-identity. Researchers are reporting on the nature of AM deficits in persons with ASD and how AM deficits interact with or may explain other difficulties exhibited by these persons, but to date, little of this research has been incorporated into assessment and intervention strategies for persons with ASD. The aims of this article are to: 1. Describe the nature of AM, 2. Expound on assessments of AM, 3. Explain the effects of deficits in AMs on the personal narratives, self-regulation, and self-identity of persons with ASD, and 4. Explore intervention strategies to facilitate AM and the abilities of persons with ASD to tell coherent personal narratives.

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20. Wieckowski AT, Zuckerman KE, Broder-Fingert S, Robins DL. Addressing current barriers to autism diagnoses through a tiered diagnostic approach involving pediatric primary care providers. Autism research : official journal of the International Society for Autism Research. 2022; 15(12): 2216-22.

Formal autism diagnosis from a specialist trained in autism assessment is customary prior to a child accessing early, intensive autism-specific services. However, long wait lists for diagnostic evaluations and limited specialty workforce have created substantial delays. Additionally, lengthy multidisciplinary evaluations are costly to insurers, inconvenient to families, and disproportionally impact under-resourced families. Diagnostic delays can impede access to intervention services. These barriers, combined with evidence regarding the importance of receiving early, autism-specific treatment, demand new approaches enabling access to autism specific services before comprehensive evaluation. Pediatric primary care providers (PCPs) are often the only health care professionals with whom a family interacts during early childhood and can play a crucial role in helping children with autism symptoms access services. Many strategies for autism diagnosis in primary care are being developed and tested; however, they have yet to be broadly adopted by PCPs, primarily due to critical implementation barriers in primary care settings. There is also not enough evidence on the accuracy of PCPs’ diagnostic impressions without extensive specialty support, resulting in PCP hesitancy in diagnosing ASD, as well as family and service provider hesitancy in accepting a PCP autism diagnosis. In this commentary, we explore the acute need for shortening waitlists for autism evaluations through a tiered diagnostic approach, in which PCPs can rule in or rule out autism in children, for whom diagnosis is clear, and refer more complex cases for specialist evaluations, and explore implementation challenges to this approach.

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21. Yang Y, Shen Y, Lin J, Dai S, Lu X, Xun G, Li Y, Wu R, Xia K, Luo X, Zhao J, Ou J. Association between history of miscarriage and autism spectrum disorder. European archives of psychiatry and clinical neuroscience. 2022.

This case-control study was designed to examine the association between different types of miscarriage history and autism spectrum disorder (ASD), and determine whether the number of miscarriage history affects the risk of ASD. All of 2274 children with ASD and 1086 healthy controls were recruited. Sociodemographic and prenatal, perinatal, and neonatal characteristics were compared between the two groups. Multivariable logistic regression analyses were applied to investigate association between miscarriage history and ASD. Stratified analyses based on sex and types of miscarriages were similarly performed. History of miscarriage was potential risk factors for ASD ([aOR] = 2.919; 95% [CI] = 2.327-3.517). Stratified analyses revealed that induced ([aOR] = 2.763, 95% [CI] = 2.259-3.379) and spontaneous miscarriage history ([aOR] = 3.341, 95% [CI] = 1.939-4.820) were associated with high risk of ASD, respectively. A sex-biased ratio in the risk of ASD was observed between females ([aOR] = 3.049, 95% [CI] = 2.153-4.137) and males ([aOR] = 2.538, 95% [CI] = 1.978-3.251). Stratified analysis of induced miscarriage history revealed that only iatrogenic miscarriage history was associated with an increased risk ASD ([aOR] = 2.843, 95% [CI] = 1.534-4.268). Also, multiple spontaneous miscarriage histories ([aOR] = 1.836, 95% [CI] = 1.252-2.693) were associated with higher autism risk than one spontaneous miscarriages history ([aOR] = 3.016, 95% [CI] = 1.894-4.174). In conclusion, miscarriage history is related to an increased risk for ASD in offspring, which is affected by the types of miscarriage and sex of the fetus.

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22. Zheng S, Kaat A, Farmer C, Thurm A, Burrows CA, Kanne S, Georgiades S, Esler A, Lord C, Takahashi N, Nowell KP, Will E, Roberts J, Bishop SL. Corrigendum: Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders. Frontiers in psychology. 2022; 13: 1051464.

[This corrects the article DOI: 10.3389/fpsyg.2022.927847.].

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23. Zhou A, Cao X, Mahaganapathy V, Azaro M, Gwin C, Wilson S, Buyske S, Bartlett CW, Flax JF, Brzustowicz LM, Xing J. Common genetic risk factors in ASD and ADHD co-occurring families. Human genetics. 2022.

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two major neurodevelopmental disorders that frequently co-occur. However, the genetic mechanism of the co-occurrence remains unclear. The New Jersey Language and Autism Genetics Study (NJLAGS) collected more than 100 families with at least one member affected by ASD. NJLAGS families show a high prevalence of ADHD and provide a good opportunity to study shared genetic risk factors for ASD and ADHD. The linkage study of the NJLAGS families revealed regions on chromosomes 12 and 17 that are significantly associated with ADHD. Using whole-genome sequencing data on 272 samples from 73 NJLAGS families, we identified potential risk genes for ASD and ADHD. Within the linkage regions, we identified 36 genes that are associated with ADHD using a pedigree-based gene prioritization approach. KDM6B (Lysine Demethylase 6B) is the highest-ranking gene, which is a known risk gene for neurodevelopmental disorders, including ASD and ADHD. At the whole-genome level, we identified 207 candidate genes from the analysis of both small variants and structure variants, including both known and novel genes. Using enrichment and protein-protein interaction network analyses, we identified gene ontology terms and pathways enriched for ASD and ADHD candidate genes, such as cilia function and cation channel activity. Candidate genes and pathways identified in our study improve the understanding of the genetic etiology of ASD and ADHD and will lead to new diagnostic or therapeutic interventions for ASD and ADHD in the future.

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