1. Autism 101 commentaries. Autism research : official journal of the International Society for Autism Research. 2022.

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2. Brennan PA, Dunlop AL, Croen LA, Avalos LA, Salisbury AL, Hipwell AE, Nozadi SS, Sathyanarayana S, Crum RM, Musci R, Li M, Li X, Mansolf M, O’Connor TG, Elliott AJ, Ghildayal N, Lin PD, Sprowles JLN, Stanford JB, Bendixsen C, Ozonoff S, Lester BM, Shuster CL, Huddleston KC, Posner J, Paneth N. Prenatal Antidepressant Exposures and Autism Spectrum Disorder or Traits: A Retrospective, Multi-Cohort Study. Research on child and adolescent psychopathology. 2022.

Prenatal antidepressant exposure has been associated with increased risk for neurodevelopmental disorders in childhood, including autism spectrum disorder (ASD). The current study utilized multi-cohort data from the Environmental influences on Child Health Outcomes (ECHO) program (N = 3129) to test for this association, and determine whether the association remained after adjusting for maternal prenatal depression and other potential confounders. Antidepressants and a subset of selective serotonin reuptake inhibitors (SSRIs) were examined in relation to binary (e.g., diagnostic) and continuous measures of ASD and ASD related traits (e.g., social difficulties, behavior problems) in children 1.5 to 12 years of age. Child sex was tested as an effect modifier. While prenatal antidepressant exposure was associated with ASD related traits in univariate analyses, these associations were statistically non-significant in models that adjusted for prenatal maternal depression and other maternal and child characteristics. Sex assigned at birth was not an effect modifier for the prenatal antidepressant and child ASD relationship. Overall, we found no association between prenatal antidepressant exposures and ASD diagnoses or traits. Discontinuation of antidepressants in pregnancy does not appear to be warranted on the basis of increased risk for offspring ASD.

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3. Clyde A, Bismar D, Agnew G, Kuper LE. Autism Spectrum Disorder and Anxiety Among Transgender Youth: Use of the Social Communication Questionnaire (SCQ). Journal of autism and developmental disorders. 2022.

Autism spectrum disorder (ASD) and ASD symptoms are overrepresented among gender-diverse youth across studies. Gender-diverse and ASD youth are at risk for anxiety, but anxiety is unclear among gender-diverse youth with ASD. The Social Communication Questionnaire (SCQ) is a commonly used ASD screener, including in multidisciplinary gender-affirming programs, but scholars have disagreed on the most optimal cut-off score. To date, no study has investigated the sensitivity and specificity of its established cut-off score of 15 with a sample of transgender youth. Gaining more accurate information about the utility of ASD screening tools with gender diverse youth is critical in order to help refer youth to needed services. Among a sample of 325 transgender youth, this study sought to determine an optimal cut-off score for the SCQ, the prevalence of ASD and ASD symptoms, and the relationship between ASD and anxiety within this population. The current study found that a lower cut-off score of 11 yielded optimal sensitivity and specificity (i.e., the best balance of accurately identifying individuals with ASD based on the screener), and analyses found an overrepresentation of ASD (5.2%) and ASD traits (12.1%). Transgender youth with ASD or ASD symptoms had higher anxiety, and all youth perceived themselves as more anxious than their parents. Future research is needed to identify the needs of this population, with particular consideration for the lived experiences of gender diverse and transgender youth.

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4. Dell’Osso L, Nardi B, Benedetti F, Cremone IM, Casagrande D, Massimetti G, Carmassi C, Carpita B. Orthorexia and autism spectrum in University workers: relationship with gender, body mass index and dietary habits. Eating and weight disorders : EWD. 2022.

OBJECTIVE: To date, few studies have investigated the relationship between autistic traits and emerging phenotypes of restrictive disorders, such as Orthorexia nervosa (ON). The aim of the present work was to investigate the relationship between ON symptoms and autistic traits in a population of University employees, focusing on the impact of gender, weight and type of diet. METHODS: All academic and technical/administrative workers of University of Pisa were invited by mail to fulfil through an anonymous online form the Adult Autism Sub-threshold Spectrum (AdAS Spectrum) and the ORTO-R. RESULTS: A total of 285 subjects filled out the questionnaires. Participants with significant autistic traits were included into the Broad autism phenotype (BAP) group, while others into the No BAP group. Subjects in the BAP group reported significantly higher ORTO-R scores than others, while no difference was reported for gender, work position, type of diet, age and BMI. Females showed significantly higher ORTO-R scores and lower BMI than males. Older subjects showed a higher BMI. No significant differences in ORTO-R scores were reported depending on type of diet and work position. A decision tree model, with ORTO-R score as dependent variable, revealed in the first step significantly higher ORTO-R scores in the BAP group than in the No BAP group, and in the second step significantly higher ORTO-R scores among females only in the No BAP group. CONCLUSION: Our results further confirm the association between ON and autism spectrum, which seems to overcome the impact of gender in this population. LEVEL OF EVIDENCE: Level V, descriptive study.

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5. Dindar K, Loukusa S, Leinonen E, Mäkinen L, Mämmelä L, Mattila ML, Ebeling H, Hurtig T. Autistic adults and adults with sub-clinical autistic traits differ from non-autistic adults in social-pragmatic inferencing and narrative discourse. Autism : the international journal of research and practice. 2022: 13623613221136003.

Previous social-pragmatic and narrative research involving autistic individuals has mostly focused on children. Little is known about how autistic adults and adults who have autistic traits but do not have a diagnosis of an autism spectrum disorder (ASD) interpret complex social situations and tell narratives about these situations. We asked 32 autistic young adults, 18 adults with autistic traits but no ASD diagnosis, and 34 non-autistic young adults to watch socially complex situations and freely tell narratives about what they thought was occurring in each situation. These narratives were analysed for how the participants had interpreted the situations and for the type of narratives they produced. We found that the groups had both similarities and differences. Regarding the differences, we found that the autistic adults and adults with autistic traits interpreted the situations differently from the non-autistic adults. The autistic adults found different aspects of the situations relevant, had different foci and placed greater importance on details than the non-autistic adults. The autistic adults and adults with autistic traits also differed from the non-autistic adults by having more detail- and event-focused narratives whereas the non-autistic adults were more likely to base their narratives on their own broad interpretations of the situations. Perceptual processing styles appeared to play a bigger role in interpreting the situations for the autistic adults and adults with autistic traits than the non-autistic adults. Our findings suggest that autistic adults and adults with autistic traits focus on different aspects in their social world than non-autistic adults.

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6. Einadab ZS, Mojtahedzadeh M, Khalili E, Dristchel B, Pirnia B. Mediating Role of Social Problem-Solving on the Relationship between Autistic Traits and Depression in a Non-Clinical Iranian Sample. Iranian journal of public health. 2022; 51(10): 2340-9.

BACKGROUND: Research on the role of social problem-solving in the relationship between autistic traits and depression is still in its nascent stage and more detailed research is required. METHODS: We aimed to investigate the mediating role of problem-solving in the relationship between autistic traits and depression. A sample of 376 university students were assessed on depression, problem-solving and autism-spectrum quotient in 2019 at Shahed University, Tehran, Iran. RESULTS: Social problem-solving played the role of a partial mediator in the relationship between autistic traits and depression. Positive problem orientation and negative problem-solving style fully mediated the effects of autistic traits on depression. CONCLUSION: Since people with autistic traits have deficits in problem-solving strategies, they may be vulnerable to symptoms of depression. Increasing the ability of positive problem-solving and decreasing negative problem orientation may serve as a buffer against depression in people with autistic traits.

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7. Floris DL, Peng H, Warrier V, Lombardo MV, Pretzsch CM, Moreau C, Tsompanidis A, Gong W, Mennes M, Llera A, van Rooij D, Oldehinkel M, Forde NJ, Charman T, Tillmann J, Banaschewski T, Moessnang C, Durston S, Holt RJ, Ecker C, Dell’Acqua F, Loth E, Bourgeron T, Murphy DGM, Marquand AF, Lai MC, Buitelaar JK, Baron-Cohen S, Beckmann CF. The Link Between Autism and Sex-Related Neuroanatomy, and Associated Cognition and Gene Expression. The American journal of psychiatry. 2022: appiajp20220194.

OBJECTIVE: The male preponderance in prevalence of autism is among the most pronounced sex ratios across neurodevelopmental conditions. The authors sought to elucidate the relationship between autism and typical sex-differential neuroanatomy, cognition, and related gene expression. METHODS: Using a novel deep learning framework trained to predict biological sex based on T(1)-weighted structural brain images, the authors compared sex prediction model performance across neurotypical and autistic males and females. Multiple large-scale data sets comprising T(1)-weighted MRI data were employed at four stages of the analysis pipeline: 1) pretraining, with the UK Biobank sample (>10,000 individuals); 2) transfer learning and validation, with the ABIDE data sets (1,412 individuals, 5-56 years of age); 3) test and discovery, with the EU-AIMS/AIMS-2-TRIALS LEAP data set (681 individuals, 6-30 years of age); and 4) specificity, with the NeuroIMAGE and ADHD200 data sets (887 individuals, 7-26 years of age). RESULTS: Across both ABIDE and LEAP, features positively predictive of neurotypical males were on average significantly more predictive of autistic males (ABIDE: Cohen’s d=0.48; LEAP: Cohen’s d=1.34). Features positively predictive of neurotypical females were on average significantly less predictive of autistic females (ABIDE: Cohen’s d=1.25; LEAP: Cohen’s d=1.29). These differences in sex prediction accuracy in autism were not observed in individuals with ADHD. In autistic females, the male-shifted neurophenotype was further associated with poorer social sensitivity and emotional face processing while also associated with gene expression patterns of midgestational cell types. CONCLUSIONS: The results demonstrate an increased resemblance in both autistic male and female individuals’ neuroanatomy with male-characteristic patterns associated with typically sex-differential social cognitive features and related gene expression patterns. The findings hold promise for future research aimed at refining the quest for biological mechanisms underpinning the etiology of autism.

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8. Goenka A, Fonseca LD, Yu SG, George MC, Wong C, Stolfi A, Kumar G. Staring spells in children with autism spectrum disorder: A clinical dilemma. Autism : the international journal of research and practice. 2022: 13623613221137240.

It is a common occurrence for children with autism spectrum disorder to be diagnosed with staring spells. Staring spells are defined as periods of time when children « space out » and are subcategorized as either « absence seizures » (brain activity resembling a seizure but with no physical seizure symptoms) or « non-epileptic spells » (inattentiveness or daydreaming). Due to the subtle characteristics of staring spells, they are usually diagnosed via long-term video electroencephalogram. The child is monitored for 3-5 days with an electroencephalogram which records brain waves. An electroencephalogram may be difficult to perform in children with autism spectrum disorder due to behavior, cognitive, or sensory concerns. Therefore, we wanted to investigate other clinical characteristics that may help us differentiate between epileptic seizures versus non-epileptic spells in children with autism spectrum disorder presenting with staring spells. We reviewed 140 charts retrospectively from the years of 2010-2021. We abstracted demographic and clinical information from the electronic medical record system and reviewed electroencephalogram videos to group the 140 children into epileptic seizure diagnosis group versus non-epileptic spell group. Of the 140 children in this study, 22 were diagnosed with epileptic seizures and the remaining were diagnosed with non-epileptic spells. We found that the two groups differed in certain clinical characteristics such as how long the staring spells lasted, how many staring spells the child had in 1 week, and whether they responded to verbal commands. We believe that clinical features may be helpful in differentiating epileptic seizures from non-epileptic spells in children with autism spectrum disorder.

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9. Gur G, Topuz RD, Kizilay G. The Effect of Ceftriaxone in Valproic Acid-Induced Mouse Model of Autism. Advanced pharmaceutical bulletin. 2022; 12(4): 850-7.

Purpose: Autism is a multifactorial neurodevelopment disease and it has not been disclosed as a hypoglutamatergic or hyperglutamathergic disease. Ceftriaxone is an antibiotic that increases glutamate transporter-1 (GLT-1) expression in the brain in chronic use. In our study we aimed to investigate the effects of different doses of ceftriaxone in postnatal period in male mice exposed to valproic acid (VPA) at 12.5th day of pregnancy. Methods: A total of 96 BALB/c male mice were divided into 12 groups (n = 8 animals per group). Ceftriaxone (50, 100, 200 mg/kg/d) or saline was given to the male offsprings born from pregnant mice administered VPA and/or saline, between days 47 and 55. Dihydrokainic acid (10 mg/kg), a GLT-1 inhibitor, was administered intraperitoneally to evaluate whether GLT-1 mediates the effect of ceftriaxone. Three chamber sociability and social interaction test and the rota rod test were performed in all groups on days 54 and 55. GLT-1 levels in the hippocampus were measured by immunohistochemistry (IHC) and western blotting (WB). Results: In our study, autism-like behaviors were observed in male offsprings that were exposed to VPA in the intrauterine period. Chronic ceftriaxone administration has no curative effect on behavioral impairment seen in autism. Conclusion: Our results show that ceftriaxone did not exert significant therapeutic effect on VPA-induced mouse model of autism.

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10. Hannon B, Mandy W, Hull L. A comparison of methods for measuring camouflaging in autism. Autism research : official journal of the International Society for Autism Research. 2022.

Interest in social camouflaging has led to a multiplicity of measurement methods of uncertain validity. This two-part investigation first used a systematic review (« Study 1 ») to identify and appraise methods used to quantify camouflaging of autistic traits, using the Consensus-based Standards for the Selection of Health Status Measurement Instruments checklist. A total of 16 distinct measurement tools were identified; all are in the preliminary phases of psychometric evaluation. The systematic review highlighted: (1) the need for parent-report tools which specifically measure camouflaging; and (2) a lack of studies looking at associations between different methods of camouflaging, which limits understanding of their validity. « Study 2 » aimed to begin to address these gaps in knowledge. We created a parent-report version of the Camouflaging Autistic Traits Questionnaire (CAT-Q) and evaluated its concurrent validity in autistic young people by examining associations with the self-report CAT-Q and a discrepancy measure. Discriminant validity was investigated by comparing all three methods of measuring camouflaging to a measure of social skills, to test whether they assess a construct distinct from social ability. The self- and parent-report CAT-Q were significantly related (r = 0.47, 95% CI = 0.24-0.65), and were related weakly (r = 0.20, 95% CI = -0.06 to 0.43) and strongly (r = 0.46, 95% CI = 0.23-0.64), respectively, to the discrepancy approach. No measure was associated with social skills. Improving the psychometric properties of these methods, and introducing a novel parent-report measure, may help selection of appropriate methods in future research and integration into clinical practice.

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11. Kuroda M, Kawakubo Y, Kamio Y, Yamasue H, Kono T, Nonaka M, Matsuda N, Kataoka M, Wakabayashi A, Yokoyama K, Kano Y, Kuwabara H. Preliminary efficacy of cognitive-behavioral therapy on emotion regulation in adults with autism spectrum disorder: A pilot randomized waitlist-controlled study. PloS one. 2022; 17(11): e0277398.

Previous studies have demonstrated the clinical utility of cognitive-behavioral therapy in improving emotion regulation in children on the autism spectrum. However, no studies have elucidated the clinical utility of cognitive-behavioral therapy in improving emotion regulation in autistic adults. The aim of the present pilot study was to explore the preliminary clinical utility of a group-based cognitive-behavioral therapy program designed to address emotion regulation skills in autistic adults. We conducted a clinical trial based on a previously reported protocol; 31 participants were randomly allocated to the intervention group and 29 to the waitlist control group. The intervention group underwent an 8-week program of cognitive-behavioral therapy sessions. Two participants from the intervention group withdrew from the study, leaving 29 participants (93.5%) in the group. Compared with the waitlist group, the cognitive-behavioral therapy group exhibited significantly greater pre-to-post (Week 0-8) intervention score improvements on the attitude scale of the autism spectrum disorder knowledge and attitude quiz (t = 2.21, p = 0.03, d = 0.59) and the difficulty describing feelings scale of the 20-item Toronto Alexithymia Scale (t = -2.07, p = 0.04, d = -0.57) in addition to pre-to-follow-up (Week 0-16) score improvements on the emotion-oriented scale of the Coping Inventory for Stressful Situations (t = -2.14, p = 0.04, d = -0.59). Our study thus provides preliminary evidence of the efficacy of the group-based cognitive-behavioral therapy program on emotion regulation in autistic adults, thereby supporting further evaluation of the effectiveness of the cognitive-behavioral therapy program in the context of a larger randomized clinical trial. However, the modest and inconsistent effects underscore the importance of continued efforts to improve the cognitive-behavioral therapy program beyond current standards.

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12. Kushner EH, Britsch ER, Iverson JM. Caregiver object labels within supported and coordinated joint engagement during interaction with toddlers at elevated and typical likelihood of autism. International journal of language & communication disorders. 2022.

BACKGROUND: Early in development, caregivers’ object labelling contributes to children’s word learning. Language development is a bi-directional process, and differences in joint engagement (JE) and language among children with developmental disabilities such as autism spectrum disorder (ASD) may provide caregivers varying contexts and opportunities to provide object labels. However, potential variation in caregivers’ production of object labels and its relation to language development remain relatively unexplored among toddlers with ASD. AIMS: This study characterized the structural and functional features of object labels produced by parents of children with typical (TL) or elevated likelihood (EL) of ASD during naturalistic toy play. We examined features of object labels within two JE contexts, supported and coordinated JE, which are differentiated by a child’s use of eye contact, as well as their relations with concurrent and future child language skills. METHODS & PROCEDURES: The present study included 55 (TL = 12, EL = 43) children who completed a naturalistic parent-child interaction in the home at 18 months of age. Children’s expressive and receptive language was assessed at 18, 24 and 36 months. At 36 months, EL children were assessed for ASD and classified as either EL-No Diagnosis, EL-Language Delay or EL-ASD. Videos of interactions were divided into discrete engagement states, including supported and coordinated JE. All parent speech was transcribed and coded to capture structural (types, tokens, mean length of utterance (MLU), sentence position) and functional (follow-in comments, directives, lead-in labels) features of object labels as well as parent prompts for the child to produce a label. OUTCOMES & RESULTS: Parents of toddlers across outcome groups labelled objects at similar rates within each engagement state. However, parents of EL-ASD children provided the lowest rates of prompts for labels in supported JE and the highest rate of labels as the final word of an utterance (sentence-final position) in coordinated JE. Additionally, parent prompts in supported JE were related to concurrent child expressive language. Labels in sentence-final position were positively related to later language outcome when delivered in supported JE but were associated with poorer language outcomes when delivered in coordinated JE. CONCLUSIONS & IMPLICATIONS: Subtle differences in parent object labels across outcome groups demonstrate the role that child language and social engagement can play in influencing parent input and the cascading impact of this input on language development. WHAT THIS PAPER ADDS: What is already known on this subject Variations in caregiver object labelling can impact child language development. However, child characteristics such as language ability also actively shape the input caregivers provide, demonstrating the bi-directionality of language development. What this paper adds to existing knowledge The present study demonstrates that characteristics of the engagement context in which a label is delivered may be important for understanding how object labelling relates to child language acquisition and whether this relation varies for children who face challenges in language learning. What are the potential or actual clinical implications of this work? As child differences in social engagement emerge, parents may be more attuned to moments their children are engaging with eye contact. Caregiver-mediated interventions might consider strategies that guide caregivers in recognizing engagement without eye contact as a similarly meaningful opportunity for learning and encourage the use of rich input within these moments.

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13. Mohd Radzi SF, Hassan MS, Mohd Radzi MAH. Comparison of classification algorithms for predicting autistic spectrum disorder using WEKA modeler. BMC medical informatics and decision making. 2022; 22(1): 306.

BACKGROUND: In healthcare area, big data, if integrated with machine learning, enables health practitioners to predict the result of a disorder or disease more accurately. In Autistic Spectrum Disorder (ASD), it is important to screen the patients to enable them to undergo proper treatments as early as possible. However, difficulties may arise in predicting ASD occurrences accurately, mainly caused by human errors. Data mining, if embedded into health screening practice, can help to overcome the difficulties. This study attempts to evaluate the performance of six best classifiers, taken from existing works, at analysing ASD screening training dataset. RESULT: We tested Naive Bayes, Logistic Regression, KNN, J48, Random Forest, SVM, and Deep Neural Network algorithms to ASD screening dataset and compared the classifiers’ based on significant parameters; sensitivity, specificity, accuracy, receiver operating characteristic, area under the curve, and runtime, in predicting ASD occurrences. We also found that most of previous studies focused on classifying health-related dataset while ignoring the missing values which may contribute to significant impacts to the classification result which in turn may impact the life of the patients. Thus, we addressed the missing values by implementing imputation method where they are replaced with the mean of the available records found in the dataset. CONCLUSION: We found that J48 produced promising results as compared to other classifiers when tested in both circumstances, with and without missing values. Our findings also suggested that SVM does not necessarily perform well for small and simple datasets. The outcome is hoped to assist health practitioners in making accurate diagnosis of ASD occurrences in patients.

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14. Murtaza N, Cheng AA, Brown CO, Meka DP, Hong S, Uy JA, El-Hajjar J, Pipko N, Unda BK, Schwanke B, Xing S, Thiruvahindrapuram B, Engchuan W, Trost B, Deneault E, Calderon de Anda F, Doble BW, Ellis J, Anagnostou E, Bader GD, Scherer SW, Lu Y, Singh KK. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Cell reports. 2022; 41(8): 111678.

There are hundreds of risk genes associated with autism spectrum disorder (ASD), but signaling networks at the protein level remain unexplored. We use neuron-specific proximity-labeling proteomics (BioID2) to identify protein-protein interaction (PPI) networks for 41 ASD risk genes. Neuron-specific PPI networks, including synaptic transmission proteins, are disrupted by de novo missense variants. The PPI network map reveals convergent pathways, including mitochondrial/metabolic processes, Wnt signaling, and MAPK signaling. CRISPR knockout displays an association between mitochondrial activity and ASD risk genes. The PPI network shows an enrichment of 112 additional ASD risk genes and differentially expressed genes from postmortem ASD patients. Clustering of risk genes based on PPI networks identifies gene groups corresponding to clinical behavior score severity. Our data report that cell type-specific PPI networks can identify individual and convergent ASD signaling networks, provide a method to assess patient variants, and highlight biological insight into disease mechanisms and sub-cohorts of ASD.

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15. Ou J, Smith RC, Tobe RH, Lin J, Arriaza J, Fahey JW, Liu R, Zeng Y, Liu Y, Huang L, Shen Y, Li Y, Cheng D, Cornblatt B, Davis JM, Zhao J, Wu R, Jin H. Efficacy of Sulforaphane in Treatment of Children with Autism Spectrum Disorder: A Randomized Double-Blind Placebo-Controlled Multi-center Trial. Journal of autism and developmental disorders. 2022.

Sulforaphane has been reported to possibly improve core symptoms associated with autism spectrum disorders from mostly small size studies. Here we present results of a larger randomized clinical trial (N = 108) in China. There were no significant changes in caregiver rated scales between sulforaphane and placebo groups. However, clinician rated scales showed a significant improvement in the sulforaphane group, and one third of participants showed at least a 30% decrease in score by 12 weeks treatment. The effects of sulforaphane were seen across the full range of intelligence and greater in participants over 10 years. Sulforaphane was safe and well-tolerated even for young children. The inconsistent results between caregiver and clinician rated scales suggest more clinical trials are needed to confirm our findings.

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16. Ross A, Grove R, McAloon J. The relationship between camouflaging and mental health in autistic children and adolescents. Autism research : official journal of the International Society for Autism Research. 2022.

Camouflaging involves the masking of autistic traits in social situations. While camouflaging may function as a potential barrier to the early diagnosis of autism, minimal research into camouflaging in autistic young people has been conducted. It is also important to evaluate the impact of camouflaging on the mental health of autistic children and adolescents. This study evaluated camouflaging in a sample of 359 female and 374 male autistic children and adolescents (4-17 years, 48.9% females). Findings indicated that camouflaging was a significant predictor of internalizing (i.e., anxiety, depression, somatic complaints) symptoms, when controlling for age, gender, and IQ. We also found evidence for some gender differences in camouflaging. Parents endorsed more autistic traits for females compared with males, whereas there were no differences in autistic traits across sex in the clinician-administered assessment. There was also evidence for a relationship between age and camouflaging, with adolescents showing a larger discrepancy between parent and clinician reported autistic traits. This has implications for clinical assessment and future research and is important for understanding how best to support the mental health of autistic children and adolescents.

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17. Roussel J, Larcher R, Sicard P, Bideaux P, Richard S, Marmigère F, Thireau J. The autism-associated Meis2 gene is necessary for cardiac baroreflex regulation in mice. Scientific reports. 2022; 12(1): 20150.

Recent understanding of Autism Spectrum Disorder (ASD) showed that peripheral primary mechanosensitive neurons involved in touch sensation and central neurons affected in ASD share transcriptional regulators. Mutant mice for ASD-associated transcription factors exhibit impaired primary tactile perception and restoring those genes specifically in primary sensory neurons rescues some of the anxiety-like behavior and social interaction defects. Interestingly, peripheral mechanosensitive sensory neurons also project to internal organs including the cardiovascular system, and an imbalance of the cardio-vascular sympathovagal regulation is evidenced in ASD and intellectual disability. ASD patients have decreased vagal tone, suggesting dysfunction of sensory neurons involved in cardio-vascular sensing. In light of our previous finding that the ASD-associated Meis2 gene is necessary for normal touch neuron development and function, we investigated here if its inactivation in mouse peripheral sensory neurons also affects cardio-vascular sympathovagal regulation and baroreflex. Combining echocardiography, pharmacological challenge, blood pressure monitoring, and heart rate variability analysis, we found that Meis2 mutant mice exhibited a blunted vagal response independently of any apparent cardiac malformation. These results suggest that defects in primary sensory neurons with mechanosensitive identity could participate in the imbalanced cardio-vascular sympathovagal tone found in ASD patients, reinforcing current hypotheses on the role of primary sensory neurons in the etiology of ASD.

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18. Saulnier CA, Klaiman C, McQueen E. Adaptive Behavior Profiles in Autism Spectrum Disorder. Current psychiatry reports. 2022.

PURPOSE OF REVIEW: The goal of this paper is to provide an overview of profiles of adaptive behavior in autism spectrum disorder and highlight the importance of these everyday skills in optimizing self-sufficiency throughout life. RECENT FINDINGS: Research has clearly confirmed that adaptive deficits exist in ASD, particularly in social skills. These impairments are highly associated with co-occurring conditions such as executive functioning impairments, psychiatric conditions, and even psychosis. There tends to be a discrepancy between intellectual capacity and adaptive functioning, particularly in autistic individuals without cognitive and language delays, with this gap widening between childhood and adulthood. Although cognition and language skills are associated with good outcome in ASD, they are insufficient in the absence of intact adaptive behavior. There is a critical need to emphasize the importance of adaptive functioning in diagnostic evaluations and treatment/intervention programs to ensure that every autistic individual has the potential for success.

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19. Schuck RK, Dwyer P, Baiden KMP, Williams ZJ, Wang M. Social Validity of Pivotal Response Treatment for Young Autistic Children: Perspectives of Autistic Adults. Journal of autism and developmental disorders. 2022.

The social validity of autism behavioral intervention has been questioned. Naturalistic Developmental Behavioral Interventions (NDBIs) attempt to address some concerns, but it is unclear whether autistic people consider NDBIs socially valid. Social validity of an NDBI, Pivotal Response Treatment (PRT), was investigated through autistic adults commenting on videos of autistic children receiving PRT. Qualitative coding of responses generated three themes: respect for individuals; assessment of intervention implementation; and socioemotional considerations. Although video brevity limits the scope of the present study’s conclusions, participants highlighted PRT components that appeared socially valid (e.g., reinforcing attempts, following the child’s lead) and aspects appearing invalid (e.g., overemphasis on spoken language). Therefore, adjustments appear necessary for PRT to be fully acceptable to the autistic community.

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20. Shin HM, Oh J, Schmidt RJ, Pearce EN. Prenatal Exposure to Per- and Polyfluoroalkyl Substances, Maternal Thyroid Dysfunction, and Child Autism Spectrum Disorder. Endocrinology and metabolism (Seoul, Korea). 2022.

Autism spectrum disorder (ASD), with its high economic and societal costs, is a growing public health concern whose prevalence has risen steadily over the last two decades. Although actual increased incidence versus improved diagnosis remains controversial, the increased prevalence of ASD suggests non-inherited factors as likely contributors. There is increasing epidemiologic evidence that abnormal maternal thyroid function during pregnancy is associated with increased risk of child ASD and other neurodevelopmental disorders. Prenatal exposure to endocrine-disrupting chemicals such as per- and polyfluoroalkyl substances (PFAS) is known to disrupt thyroid function and can affect early brain development; thus, thyroid dysfunction is hypothesized to mediate this relationship. The concept of a potential pathway from prenatal PFAS exposure through thyroid dysfunction to ASD etiology is not new; however, the extant literature on this topic is scant. The aim of this review is to evaluate and summarize reports with regard to potential mechanisms in this pathway.

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21. Vashisth S, Chahrour MH. Genomic strategies to untangle the etiology of autism: A primer. Autism research : official journal of the International Society for Autism Research. 2022.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication, diminished social skills, and restrictive and repetitive behaviors and interests. ASD affects approximately 2.3% of the population and is highly heterogeneous, both phenotypically and genetically. As genomic technologies advance, our understanding of the genetic architecture of ASD is becoming clearer, encompassing spontaneous and inherited alterations throughout the genome, and delineating alterations that are either rare or common in the population. This commentary provides an overview of the genomic strategies and resulting major findings of genetic alterations associated with ASD.

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22. Vivanti G, Bent C, Capes K, Upson S, Hudry K, Dissanayake C. Characteristics of children on the autism spectrum who benefit the most from receiving intervention in inclusive versus specialised early childhood education settings. Autism research : official journal of the International Society for Autism Research. 2022; 15(11): 2200-9.

This study examined the factors associated with social-communicative outcomes for children on the autism spectrum receiving early intervention in inclusive versus specialised early childhood education programmes. Fifty-eight preschool-aged children randomly assigned to receive the Group-Early Start Denver Model (G-ESDM) in either inclusive or specialised (i.e., autism-specific) classrooms across one calendar year showed similar outcomes at group mean-level across measures of communication and social behaviour. We examined factors moderating outcomes across settings. Novel moderation analyses revealed that higher baseline social interest and nonverbal cognitive skills were associated with increased social communication gains for children in the inclusive classrooms, but not for those in specialised settings. Children who spend more time paying attention to people and have higher cognitive skills might benefit from receiving early intervention in inclusive settings, whilst these factors might be less relevant for children educated in specialised settings.

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23. Zhang M, Hu X, Jiao J, Yuan D, Li S, Luo T, Wang M, Situ M, Sun X, Huang Y. Brain white matter microstructure abnormalities in children with optimal outcome from autism: a four-year follow-up study. Scientific reports. 2022; 12(1): 20151.

Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder, with only a small proportion of people obtaining optimal outcomes. We do not know if children with ASD exhibit abnormalities in the white matter (WM) microstructure or if this pattern would predict ASD prognosis in a longitudinal study. 182 children with ASD were recruited for MRI and clinical assessment; 111 completed a four-year follow-up visit (30 with optimal outcomes, ASD-; 81 with persistent diagnosis, ASD+). Additionally, 72 typically developing controls (TDC) were recruited. The microstructural integrity of WM fiber tracts was revealed using tract-based spatial statistics (TBSS) and probabilistic tractography analyses. We examined the neuroimaging abnormality associated with ASD and its relationship to ASD with optimal outcome. The ASD+ and TDC groups were propensity score matched to the ASD- group in terms of age, gender, and IQ. TBSS indicated that children with ASD exhibited abnormalities in the superior longitudinal fasciculus (SLF), inferior longitudinal fasciculus (ILF), and extending to the anterior thalamic radiation (ATR) and cingulum; whereas the ASD+ group showed more severe abnormalities than the ASD- group. Probabilistic tractography analysis revealed that ASD+ group exhibited lower Fractional Anisotropy (FA) of the left superior thalamic radiation (STR L) than ASD- group, and that FA value of the STR L was a significant predictor of optimal outcome (EX(B), 6.25; 95% CI 2.50-15.63; p < 0.001). Children with ASD showed significant variations in SLF_L and STR_L, and STR_L was a predictor of 'ASD with optimal outcome'. Our findings may aid in comprehension of the mechanisms of 'ASD with optimal outcome'.

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