1. Andersson P, Jarbin H, Desai Boström AE. Sex Differences in Mental Health Problems and Psychiatric Hospitalization in Autistic Young Adults. JAMA Psychiatry;2023 (Feb 22)

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2. Ayyash M, Saad F, Alaouie M, Blackwood RA. A comparison of the experiences, challenges and coping strategies for parents of children with autism residing in the United States and The Arab World. J Natl Med Assoc;2023 (Feb 22)

Most research on autism has targeted White Americans. Although challenges and coping mechanisms are present for all parents, some aspects are influenced by culture. This study aims to compare the experiences, challenges and coping strategies for parents of children with autism residing in the US and Arab countries. A survey, available in both English and Arabic, was posted electronically on social media support groups for parents of children with autism in Arab countries and the US. The survey covered experiences, challenges and coping strategies for raising a child with autism spectrum disorder. 165 surveys were collected from 15 Arab countries and 235 surveys were collected from 32 US states. On a scale from 1 to 5, with 5 being highest satisfaction, US parents reported a higher satisfaction for the overall diagnostic process with median score of 3.0 compared to 2.5 for parents in Arab countries. Parents in both countries reported information seeking/self-education about autism and acceptance and/or religion as the 2 most valuable coping strategies. Lower satisfaction with all aspects of the diagnosis process was found among parents in Arab countries compared to those residing in the US. Lack of community support for Arab parents was also a more significant challenge compared to US parents. With such poor community support for Arab parents, it is pivotal to expand upon initiatives that minimize the stigma and shame associated with an autism diagnosis to ultimately reduce challenges and allow for better parental experiences.

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3. Bang P, Igelström K. Modality-specific associations between sensory differences and autistic traits. Autism;2023 (Feb 19):13623613231154349.

Sensory symptoms are a major source of distress for many autistic people, causing anxiety, stress, and avoidance. Sensory problems are thought to be passed on genetically together with other autistic characteristics, such as social preferences. This means that people who report cognitive rigidity and autistic-like social function are more likely to suffer from sensory issues. We do not know what role the individual senses, such as vision, hearing, smell, or touch, play in this relationship, because sensory processing is generally measured with questionnaires that target general, multisensory issues. This study aimed to investigate the individual importance of the different senses (vision, hearing, touch, smell, taste, balance, and proprioception) in the correlation with autistic traits. To ensure the results were replicable, we repeated the experiment in two large groups of adults. The first group contained 40% autistic participants, whereas the second group resembled the general population. We found that problems with auditory processing were more strongly predictive of general autistic characteristics than were problems with the other senses. Problems with touch were specifically related to differences in social interaction, such as avoiding social settings. We also found a specific relationship between proprioceptive differences and autistic-like communication preferences. The sensory questionnaire had limited reliability, so our results may underestimate the contribution of some senses. With that reservation in mind, we conclude that auditory differences are dominant over other modalities in predicting genetically based autistic traits and may therefore be of special interest for further genetic and neurobiological studies.

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4. Barik K, Watanabe K, Bhattacharya J, Saha G. Functional connectivity based machine learning approach for autism detection in young children using MEG signals. J Neural Eng;2023 (Feb 22)

OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, and identifying early autism biomarkers plays a vital role in improving detection and subsequent life outcomes. This study aims to reveal hidden biomarkers in the patterns of functional brain connectivity as recorded by the neuro-magnetic brain responses in children with ASD. APPROACH: We recorded resting-state MEG signals from thirty children with ASD (4-7 years) and thirty age, gender-matched typically developing (TD) children. We used a complex coherency-based functional connectivity analysis to understand the interactions between different brain regions of the neural system. The work characterizes the large-scale neural activity at different brain oscillations using functional connectivity analysis and assesses the classification performance of coherence-based (COH) measures for autism detection in young children. A comparative study has also been carried out on COH-based connectivity networks both region-wise and sensor-wise to understand frequency-band-specific connectivity patterns and their connections with autism symptomatology. We used Artificial Neural Network (ANN) and Support Vector Machine (SVM) classifiers in the machine learning framework with a 5-fold cross-validation technique. MAIN RESULTS: To classify ASD from TD children, the COH connectivity feature yields the highest classification accuracy of 91.66% in the high gamma (50-100 Hz) frequency band. In region-wise connectivity analysis, the second highest performance is in the delta band (1-4 Hz) after the gamma band. Combining the delta and gamma band features, we achieved a classification accuracy of 95.03% and 93.33% in the ANN and SVM classifiers, respectively. Using classification performance metrics and further statistical analysis, we show that ASD children demonstrate significant hyperconnectivity. SIGNIFICANCE: Our findings support the weak central coherency theory in autism detections. Further, despite its lower complexity, we show that region-wise coherence analysis outperforms the sensor-wise connectivity analysis. Altogether, these results demonstrate the functional brain connectivity patterns as an appropriate biomarker of autism in young children.

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5. Cao X, Cao J. Commentary: Machine learning for autism spectrum disorder diagnosis – challenges and opportunities – a commentary on Schulte-Rüther et al. (2022). J Child Psychol Psychiatry;2023 (Feb 19)

The commentary cites a study by Schulte-Rüther et al. (Journal of Child Psychology and Psychiatry, 2022) that proposed a machine learning model to predict a clinical best-estimate diagnosis of ASD when existing other co-occurring diagnoses. We discuss the valuable contribution of this work to developing a reliable computer-assisted diagnosis (CAD) system for ASD and point out that related research can be integrated with other multimodal machine learning methods. For future studies on developing the CAD system for ASD, we propose problems that need to be solved and potential research directions.

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6. Darazsdi Z, Bialka CS. « Oh, you couldn’t be autistic »: Examining anti-autistic bias and self-esteem in the therapeutic alliance. Autism;2023 (Feb 19):13623613231154622.

Many mental health practitioners in the United States are trained to cure or change autistic people. Some of these mental health practitioners may show anti-autistic bias when working with autistic clients. Anti-autistic bias is any kind of bias that degrades, devalues, or others autistic people or autistic traits. Anti-autistic bias is especially problematic when mental health practitioners and clients are engaged in the therapeutic alliance, which is the collaborative relationship between a therapist and client. The therapeutic alliance is one of most important parts of an effective therapeutic relationship. Our interview-based study examined 14 autistic adults’ experiences with anti-autistic bias in the therapeutic alliance and the relationship they felt it has on their self-esteem. Results from this research showed that some mental health practitioners expressed hidden and unrealized bias when working with autistic clients, such as making assumptions about what it means to be autistic. Results also showed that some mental health practitioners were intentionally biased and openly harmful to their autistic clients. Both forms of bias negatively affected participant self-esteem. Based on the findings of this study, we offer recommendations to help mental health practitioners and mental health practitioner training programs better serve autistic clients. This study addresses a significant gap in current research on anti-autistic bias in the mental health field and the overall well-being of autistic individuals.

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7. De Jonge MV, Boutjdir M, El Korchi T, Torres H, Karpur A, Shih A, El Idrissi A. Urban and rural differences in needs, service use and satisfaction among caregivers of autistic children in Morocco. Autism;2023 (Feb 17):13623613221150086.

It is very important to understand the needs of caregivers to be able to empower caregivers and to develop or improve services around the world. Therefore, research in different regions is needed to understand differences in caregivers needs between countries, but also between areas within countries. This study investigated differences in needs and service use between caregivers of autistic children in Morocco, living in urban and rural areas. A total of 131 Moroccan caregivers of autistic children took part in the study and responded to an interview survey. The results showed both similarities and differences between urban and rural living caregivers’ challenges and needs. Autistic children from urban communities were much more likely to receive intervention and attend school than children from rural communities, even though age and verbal skills of the two groups of children were comparable. Caregivers expressed similar needs for improved care and education, but different challenges in caring. Limited autonomy skills in children were more challenging to rural caregivers, while limited social-communicational skills were more challenging to urban caregivers. These differences may inform healthcare policy-makers and program developers. Adaptive interventions are important to respond to regional needs, resources, and practices. In addition, the results showed the importance of addressing challenges as experienced by caregivers such as costs related to care, barriers in access to information, or stigma. Addressing these issues may help reduce both global and within-country differences in autism care.

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8. de Souza MLP, de Lima PDL, Herkrath FJ. Utilization of dental services by children with autism spectrum conditions: The role of primary health care. Spec Care Dentist;2023 (Feb 17)

AIM: Children with autism spectrum conditions (ASC) face many barriers to access dental health services, despite having a greater need for care. The aim of the study was to evaluate the use of dental health services by children with ASC and the individual factors related to the demand for primary care services. METHODS: A cross-sectional study was carried out with 100 caregivers of children with ASC aged 6-12 years in a city in Brazil. After the descriptive analysis, logistic regression analyses were carried out to estimate the odds ratio and 95% confidence intervals. RESULTS: The caregivers reported that 25% of the children had never been to the dentist and 57% had an appointment over the past 12 months. Seeking primary care for dental treatment and frequent toothbrushing were positively associated with both outcomes and participating in oral health preventive activities decreased the chance of never having been to the dentist. Having male caregivers and activity limitations due to autism decreased the chance of having been to the dentist over the past year. CONCLUSION: The findings suggest that reorganizing care of children with ASC can contribute to reducing access barriers to dental health services.

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9. Emerson LM, Pellicano E, Monk R, Lim M, Heaton J, McLay L. A portfolio analysis of autism research funding in Aotearoa New Zealand 2007-2021. Autism;2023 (Feb 19):13623613231155954.

We aimed to document the areas of autism research that have previously been funded in Aotearoa New Zealand. We searched for research grants awarded to autism research in Aotearoa New Zealand between 2007 and 2021. We compared the funding distribution in Aotearoa New Zealand to other countries. We asked people from the autistic community and broader autism community whether they were satisfied with this funding pattern, and whether it aligned with what is important to them and to autistic people. We found that the majority of funding for autism research was awarded to biology research (67%). Members of the autistic and autism communities were dissatisfied with the funding distribution, and expressed a lack of alignment with what is important to them. People from the community indicated that the funding distribution did not address the priorities of autistic people, and that it indicated a lack of engagement with autistic people. Autism research funding needs to reflect the priorities of the autistic and autism communities. Autistic people need to be included in autism research and related funding decisions.

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10. Gillberg C. Hans Asperger: True or not?. Acta Paediatr;2023 (Feb 22)

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11. Guo X, Zhang X, Chen H, Zhai G, Cao Y, Zhang T, Gao L. Exploring the heterogeneity of brain structure in autism spectrum disorder based on individual structural covariance network. Cereb Cortex;2023 (Feb 22)

Autism spectrum disorder (ASD) is characterized by highly structural heterogeneity. However, most previous studies analyzed between-group differences through a structural covariance network constructed based on the ASD group level, ignoring the effect of between-individual differences. We constructed the gray matter volume-based individual differential structural covariance network (IDSCN) using T1-weighted images of 207 children (ASD/healthy controls: 105/102). We analyzed structural heterogeneity of ASD and differences among ASD subtypes obtained by a K-means clustering analysis based on evidently different covariance edges relative to healthy controls. The relationship between the distortion coefficients (DCs) calculated at the whole-brain, intra- and interhemispheric levels and the clinical symptoms of ASD subtypes was then examined. Compared with the control group, ASD showed significantly altered structural covariance edges mainly involved in the frontal and subcortical regions. Given the IDSCN of ASD, we obtained 2 subtypes, and the positive DCs of the 2 ASD subtypes were significantly different. Intra- and interhemispheric positive and negative DCs can predict the severity of repetitive stereotyped behaviors in ASD subtypes 1 and 2, respectively. These findings highlight the crucial role of frontal and subcortical regions in the heterogeneity of ASD and the necessity of studying ASD from the perspective of individual differences.

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12. Howard J, Herold B, Major S, Leahy C, Ramseur K, 2nd, Franz L, Deaver M, Vermeer S, Carpenter KL, Murias M, Huang WA, Dawson G. Associations between executive function and attention abilities and language and social communication skills in young autistic children. Autism;2023 (Feb 19):13623613231154310.

Executive functioning describes a set of cognitive processes that affect thinking and behavior. Past research has shown that autistic individuals often have delays in the acquisition of executive function abilities. Our study explored how differences in executive function and attention abilities relate to social abilities and communication/language in 180 young autistic children. Data were gathered via caregiver report (questionnaires/interviews) and an assessment of vocabulary skills. The ability to sustain attention to a dynamic video was measured via eye tracking. We found that children with higher levels of executive function skills demonstrated lower levels of social pragmatic problems, a measure of having difficulties in social contexts. Furthermore, children who were able to sustain their attention longer to the video displayed higher levels of expressive language. Our results emphasize the importance of executive function and attention skills across multiple areas of functioning in autistic children, in particular those that involve language and social communication.

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13. Imre Yetkin D, Sizer E, Tolu Gökhaner Y, Büyükdemirci E, Atlı A. Assessment of Sonographic Carotid Parameters in Autism Spectrum Disorder: A Comparative Case Control Study. Dev Neurorehabil;2023 (Feb 19):1-8.

OBJECTIVE: To compare carotid intima-media thickness (cIMT), systolic and diastolic diameters (D), intima-media thickness/diameter ratio (IDR) values in children with ASD, and control groups, and to analyze the correlation of these parameters with the Childhood Autism Rating Scale (CARS) scores. METHODS: This prospective case-control study included 37 children diagnosed with ASD and 38 individuals without ASD in the control group. Correlation assessments of sonographic measurements with CARS scores in the ASD group were also performed. RESULTS: Diastolic diameters of the right (median of ASD group:5.5 mm, control group:5.1 mm) and left (median of ASD group: 5.5 mm, in control group: 5.1 mm) side were higher in the ASD group (p = .015 and p = .032 respectively). A statistically significant correlation was detected between CARS score and left cIMT, right cIMT, right cIMT/systolic D, right cIMT/diastolic D, left cIMT/systolic D, and left cIMT/diastolic D (p < .05). CONCLUSION: Vascular diameters, cIMT, and IDR values of children with ASD positively correlated with CARS scores, and these findings could be interpreted as a marker of early atherosclerosis in children with ASD.

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14. Jones SC, Gordon CS, Mizzi S. Representation of autism in fictional media: A systematic review of media content and its impact on viewer knowledge and understanding of autism. Autism;2023 (Feb 19):13623613231155770.

The way autism is represented in fictional media can impact people’s views of autistic people. For example, representations may contribute to negative views of autistic people as being unusual or dangerous, or they may challenge stereotypes and instead highlight the strengths of autistic people. This work aimed to review previous research to understand how autistic people have been represented in fictional media (Part A). It also sought to understand whether viewing fictional portrayals of autism has an impact on people’s knowledge of autism and attitudes towards autistic people (Part B). Of 14 studies that were included in Part A, several unhelpful and stereotypical portrayals of autism emerged. Positive portrayals were those that highlighted the strengths of autistic people and reflected nuance. There is a need for greater diversity in representation of autism in fictional media. For example, not all autistic people are white heterosexual males. Across the five studies included in Part B, there were no improvements in people’s knowledge of autism after watching or reading a short segment from a fictional TV series or novel that depicts an autistic person. Although there was a significant improvement in people’s attitudes towards autistic people, these findings do not provide a complete picture given the short length of the media exposure and small number of studies. Future studies should investigate how multiple exposures to the representation of autistic people in both fictional and non-fictional sources can affect people’s understanding of autism. There is also a need to develop more accurate and respectful ways of measuring people’s knowledge of, and attitudes towards, autism.

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15. Kadono S, Miyawaki D, Goto A, Hirai K, Sakamoto S, Hama H, Nishiura S, Hamazaki T, Inoue K. Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report. Medicine (Baltimore);2023 (Feb 22);102(8):e33055.

RATIONALE: Ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like symptoms and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. Some studies report that OTC deficiency is often initially diagnosed as ASD or ADHD. However, there are no reports of OTC deficiency comorbid with ASD and ADHD. PATIENT CONCERNS: The patient is 17-year-old girl diagnosed with OTC deficiency at 3 years of age. She had behavioral problems since childhood, including depressed mood, irritability, and impulsive behavior; however, they were considered OTC-mediated nonspecific psychiatric symptoms. Therefore, the patient had not been appropriately assessed for ASD and ADHD. She presented with depressed mood and self-harm at 17 years of age. DIAGNOSES: We diagnosed her with ASD and ADHD based on her medical history and semistructured interviews. INTERVENTIONS: We focused her ASD and ADHD traits and discussed strategies with her for better adaptive living. OUTCOMES: Our interventions resulted in her better social adjustment. LESSONS: Physicians should consider the possibility of comorbid ASD and ADHD in individuals with OTC, facilitating appropriate and intervention for better outcomes.

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16. Lun T, Lin S, Chen Y, Zhao Y, Wang D, Li L, Yu J. Acupuncture for children with autism spectrum disorder: A systematic review and meta-analysis. Medicine (Baltimore);2023 (Feb 22);102(8):e33079.

BACKGROUND: The aim of this study was to assess the efficiency and safety of acupuncture in core symptomatic improvement of children with autism spectrum disorder (ASD). METHODS: We searched the following databases: Cochrane Library, PubMed, Embase, Medline, China National Knowledge Infrastructure (CNKI), Wanfang, Chinese Science and Technology Periodical (VIP) and Chinese Biological Medicine (CBM), from 1 January 2012 to 25 September 2022. The Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Autism Treatment Evaluation Checklist (ATEC) were adopted as outcome indicators. Three reviewers independently assessed the risk of bias (ROB) and the Grading of Recommendations Assessment, Development, and Evaluation (GRADE)assessment. Utilizing Review Manager (RevMan) 5.3 and Stata 12.0, data were analyzed. RESULTS: A total of 38 trials were included, and 2862 participants participated in qualitative synthesis and meta-analysis. Only 1 trial was assessed as having a low ROB, and 37 trials were assessed as having an overall high ROB. The quality of evidence for most indicators were considered very low by the GRADE criteria. The results showed that acupuncture groups might have a higher clinical effective rate than nonacupuncture groups (relative risk [RR] = 1.33,95% confidence interval [CI] = 1.25-1.41; heterogeneity: x2=18.15, P = .64, I2 = 0%). Regarding changes in ABC scores, the acupuncture groups might exhibit greater decrease than nonacupuncture groups (MMD = -6.06, 95%CI = -7.25 to -4.87, P < .00001; heterogeneity: x2 =73.37, P = .03, I2 = 77%). In terms of changes in CARS score, acupuncture group may benefit more than nonacupuncture group (MMD = -3.93, 95%CI = 4.90 to -2.95, P < .00001; heterogeneity: x2=234.47, P < .00001, I2 = 90%). Additionally, in terms of ATEC score, acupuncture groups showed more benefit than nonacupuncture groups (MMD = -10.24, 95%CI = -13.09 to -7.38, P < .00001; heterogeneity: x2=45.74, P = .04, I2 = 85%). Both subgroup analysis and sensitivity analysis are existing heterogeneity. Only 1 RCT study involved adverse events with mild symptoms that did not interfere with treatment and evaluation. CONCLUSION: Children with ASD may benefit from acupuncture because of its effectiveness and safety. Nevertheless, given the low quality of the evidence for the assessed outcomes and the high ROB of analyzed trials, the results should be regarded with caution.

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17. Maekawa T, Kuroki T, Tanaka M, Ogata K, Yamasaki T, Matsubara T, Tobimatsu S. Effects of spatially filtered fearful faces and awareness on amygdala activity in adults with autism spectrum disorder: A magnetoencephalography study. Neurosci Lett;2023 (Mar 13);800:137135.

BACKGROUND: The amygdala is pivotal in emotional face processing. Spatial frequencies (SFs) of visual images are divided and processed via two visual pathways: low spatial frequency (LSF) information is conveyed by the magnocellular pathway, while the parvocellular pathway carries high spatial frequency information. We hypothesized that altered amygdala activity might underlie atypical social communication caused by changes in both conscious and non-conscious emotional face processing in the brain in individuals with autism spectrum disorder (ASD). METHOD: Eighteen adults with ASD and 18 typically developing (TD) peers participated in this study. Spatially filtered fearful- and neutral-expression faces and object stimuli were presented under supraliminal or subliminal conditions, and neuromagnetic responses in the amygdala were measured using 306-channel whole-head magnetoencephalography. RESULTS: The latency of the evoked responses at approximately 200 ms to unfiltered neutral face stimuli and object stimuli in the ASD group was shorter than that in the TD group in the unaware condition. Regarding emotional face processing, the evoked responses in the ASD group were larger than those in the TD group under the aware condition. The later positive shift during 200-500 ms (ARV) was larger than that in the TD group, regardless of awareness. Moreover, ARV to HSF face stimuli was larger than that to the other spatial filtered face stimuli in the aware condition. CONCLUSION: Regardless of awareness, ARV might reflect atypical face information processing in the ASD brain.

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18. Martini MI, Butwicka A, Taylor M. Sex Differences in Mental Health Problems and Psychiatric Hospitalization in Autistic Young Adults-Reply. JAMA Psychiatry;2023 (Feb 22)

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19. Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P, Vitobello A, Philippe C, Bizaoui V, Storr HL, Amoruso F, Memi F, Vezzoli V, Massa V, Scheiffele P, Howard SR, Cariboni A. Combined omic analyses reveal autism-linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease. Dis Model Mech;2023 (Feb 22)

Gonadotropin releasing hormone (GnRH) deficiency is a disorder characterized by absent or delayed puberty, with largely unknown genetic causes. The purpose of this study was to obtain and exploit gene expression profiles of GnRH neurons during development to unveil novel biological mechanisms and genetic determinants underlying GnRH deficiency (GD). Here, we combined bioinformatic analyses of immortalized and primary embryonic GnRH neuron transcriptomes with exome sequencing from GD patients to identify candidate genes implicated in the pathogenesis of GD. Among differentially expressed and filtered transcripts, we found loss-of-function (LoF) variants of the autism-linked Neuroligin 3 (NLGN3) gene in two unrelated patients co-presenting with GD and neurodevelopmental traits. We demonstrated that NLGN3 is upregulated in maturing GnRH neurons and that NLGN3 wild type, but not mutant protein, promotes neuritogenesis when overexpressed in developing GnRH cells. Our data represent proof-of-principle that this complementary approach can identify novel candidate GD genes and demonstrate that LoF NLGN3 variants may contribute to GD. This novel genotype-phenotype correlation implies common genetic mechanisms underlying neurodevelopmental disorders, such as GD and autistic spectrum disorder.

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20. Patel SP, Landau E, Martin GE, Rayburn C, Elahi S, Fragnito G, Losh M. A profile of prosodic speech differences in individuals with autism spectrum disorder and first-degree relatives. J Commun Disord;2023 (Feb 16);102:106313.

BACKGROUND: Impairments in prosody (e.g., intonation, stress) are among the most notable communication characteristics of individuals with autism spectrum disorder (ASD) and can significantly impact communicative interactions. Evidence suggests that differences in prosody may be evident among first-degree relatives of autistic individuals, indicating that genetic liability to ASD is expressed through prosodic variation, along with subclinical traits referred to as the broad autism phenotype (BAP). This study aimed to further characterize prosodic profiles associated with ASD and the BAP to better understand the clinical and etiologic significance of prosodic differences. METHOD: Autistic individuals, their parents, and respective control groups completed the Profiling Elements of Prosody in Speech-Communication (PEPS-C), an assessment of receptive and expressive prosody. Responses to expressive subtests were further examined using acoustic analyses. Relationships between PEPS-C performance, acoustic measurements, and pragmatic language ability in conversation were assessed to understand how differences in prosody might contribute to broader ASD-related pragmatic profiles. RESULTS: In ASD, receptive prosody deficits were observed in contrastive stress. With regard to expressive prosody, both the ASD and ASD Parent groups exhibited reduced accuracy in imitation, lexical stress, and contrastive stress expression compared to respective control groups, though no acoustic differences were noted. In ASD and Control groups, lower accuracy across several PEPS-C subtests and acoustic measurements related to increased pragmatic language violations. In parents, acoustic measurements were tied to broader pragmatic language and personality traits of the BAP. CONCLUSION: Overlapping areas of expressive prosody differences were identified in ASD and parents, providing evidence that prosody is an important language-related ability that may be impacted by genetic risk of ASD.

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21. Thongkorn S, Kanlayaprasit S, Kasitipradit K, Lertpeerapan P, Panjabud P, Hu VW, Jindatip D, Sarachana T. Investigation of autism-related transcription factors underlying sex differences in the effects of bisphenol A on transcriptome profiles and synaptogenesis in the offspring hippocampus. Biol Sex Differ;2023 (Feb 20);14(1):8.

BACKGROUND: Bisphenol A (BPA) has been linked to susceptibility to autism spectrum disorder (ASD). Our recent studies have shown that prenatal BPA exposure disrupted ASD-related gene expression in the hippocampus, neurological functions, and behaviors associated with ASD in a sex-specific pattern. However, the molecular mechanisms underlying the effects of BPA are still unclear. METHODS: Transcriptome data mining and molecular docking analyses were performed to identify ASD-related transcription factors (TFs) and their target genes underlying the sex-specific effects of prenatal BPA exposure. Gene ontology analysis was conducted to predict biological functions associated with these genes. The expression levels of ASD-related TFs and targets in the hippocampus of rat pups prenatally exposed to BPA were measured using qRT-PCR analysis. The role of the androgen receptor (AR) in BPA-mediated regulation of ASD candidate genes was investigated using a human neuronal cell line stably transfected with AR-expression or control plasmid. Synaptogenesis, which is a function associated with genes transcriptionally regulated by ASD-related TFs, was assessed using primary hippocampal neurons isolated from male and female rat pups prenatally exposed to BPA. RESULTS: We found that there was a sex difference in ASD-related TFs underlying the effects of prenatal BPA exposure on the transcriptome profiles of the offspring hippocampus. In addition to the known BPA targets AR and ESR1, BPA could directly interact with novel targets (i.e., KDM5B, SMAD4, and TCF7L2). The targets of these TFs were also associated with ASD. Prenatal BPA exposure disrupted the expression of ASD-related TFs and targets in the offspring hippocampus in a sex-dependent manner. Moreover, AR was involved in the BPA-mediated dysregulation of AUTS2, KMT2C, and SMARCC2. Prenatal BPA exposure altered synaptogenesis by increasing synaptic protein levels in males but not in females, but the number of excitatory synapses was increased in female primary neurons only. CONCLUSIONS: Our findings suggest that AR and other ASD-related TFs are involved in sex differences in the effects of prenatal BPA exposure on transcriptome profiles and synaptogenesis in the offspring hippocampus. These TFs may play an essential role in an increased ASD susceptibility associated with endocrine-disrupting chemicals, particularly BPA, and the male bias of ASD.

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22. Uzonyi TE, Grissom AC, Anderson RV, Lee H, Towner-Wright S, Crais ER, Watson LR, Landa RJ. Scoping review of behavioral coding measures used to evaluate parent responsiveness of children with autism or elevated risk of autism. Autism;2023 (Feb 17):13623613231152641.

The topic of how parents react (e.g., how they talk and act) to their child with autism or elevated likelihood of autism, often called parent responsiveness, has been studied by researchers for over 50 years. Many methods for measuring behaviors around parent responsiveness have been created depending on what researchers were interested in discovering. For example, some include only the behaviors that the parent does/says in reacting to something the child does/says. Other systems look at all behaviors in a period of time between child and parent (e.g., who talked/acted first, how much the child or parent said/did). The purpose of this article was to provide a summary of how and what researchers looked at around parent responsiveness, describe the strengths and barriers of these approaches, and suggest a « best practices » method of looking at parent responsiveness. The model suggested could make it more possible to look across studies to compare study methods and results. The model could be used in the future by researchers, clinicians, and policymakers to provide more effective services to children and their families.

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23. Wang S, Li X. A revisit of the amygdala theory of autism: Twenty years after. Neuropsychologia;2023 (Feb 17);183:108519.

The human amygdala has long been implicated to play a key role in autism spectrum disorder (ASD). Yet it remains unclear to what extent the amygdala accounts for the social dysfunctions in ASD. Here, we review studies that investigate the relationship between amygdala function and ASD. We focus on studies that employ the same task and stimuli to directly compare people with ASD and patients with focal amygdala lesions, and we also discuss functional data associated with these studies. We show that the amygdala can only account for a limited number of deficits in ASD (primarily face perception tasks but not social attention tasks), a network view is, therefore, more appropriate. We next discuss atypical brain connectivity in ASD, factors that can explain such atypical brain connectivity, and novel tools to analyze brain connectivity. Lastly, we discuss new opportunities from multimodal neuroimaging with data fusion and human single-neuron recordings that can enable us to better understand the neural underpinnings of social dysfunctions in ASD. Together, the influential amygdala theory of autism should be extended with emerging data-driven scientific discoveries such as machine learning-based surrogate models to a broader framework that considers brain connectivity at the global scale.

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