1. Ahmad Basri MAF, Wan Ismail WS, Kamal Nor N, Mohd Tohit N, Ahmad MN, Mohamad Aun NS, Mohd Daud TI. Validation of key components in designing a social skills training content using virtual reality for high functioning autism youth-A Fuzzy Delphi method. PLoS One. 2024; 19(4): e0301517.

The use of virtual reality in social skills training for high functioning autism spectrum disorder (HFASD) youth has been found to be engaging and enjoyable. Despite the promising results, previous literature indicates that there has been no consensus on the social skills target in the training content. There is also limited research on how evidence-based strategies like cognitive and behaviour techniques are instantiated into the VR environment to teach social skills. The aim of this study is to determine the key components to design a social skills training content using virtual reality for youths with HFASD. The Fuzzy Delphi method (FDM) was used to obtain expert consensus on social skills difficulties and cognitive behavioral techniques included in the content in three phases. In phase 1, a questionnaire was developed from in-depth interviews and scientific literature review. The in-depth interviews were conducted with 13 HFASD youth, 7 parents and 6 experts. In phase 2, 3 experts rated the relevance of the items in the questionnaire using an item-level content validity index (I-CVI) assessment. In phase 3, the questionnaire was distributed to 10 experts to rate their level of agreement on each component using a 7-point Likert scale. Components that received a value above 75%, threshold value (d) ≤ 0.2, fuzzy score (A) ≥ α – cut value = 0.5 and higher rank based on defuzzification score were prioritized to be included in the content. Items that received higher expert consensus on social skills difficulties included assessing non-verbal responses, initiating, maintaining, and leaving conversations, emotional difficulties and difficulties in perspective taking. Cognitive and behavioral techniques that received higher expert consensus were psychoeducation, modelling, relaxation techniques, reinforcements, and perspective-taking questions. These key components can be used as a framework for the development of virtual learning content for social skills training in future studies.

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2. Al-Sarraj Y, Taha RZ, Al-Dous E, Ahram D, Abbasi S, Abuazab E, Shaath H, Habbab W, Errafii K, Bejaoui Y, AlMotawa M, Khattab N, Aqel YA, Shalaby KE, Al-Ansari A, Kambouris M, Abouzohri A, Ghazal I, Tolfat M, Alshaban F, El-Shanti H, Albagha OME. The genetic landscape of autism spectrum disorder in the Middle Eastern population. Front Genet. 2024; 15: 1363849.

Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD, but about 75% of ASD cases have an undetermined genetic risk. Methods: We extensively investigated an ASD cohort made of 102 families from the Middle Eastern population of Qatar. First, we investigated the copy number variations (CNV) contribution using genome-wide SNP arrays. Next, we employed Next Generation Sequencing (NGS) to identify de novo or inherited variants contributing to the ASD etiology and its associated comorbid conditions in families with complete trios (affected child and the parents). Results: Our analysis revealed 16 CNV regions located in genomic regions implicated in ASD. The analysis of the 88 ASD cases identified 41 genes in 39 ASD subjects with de novo (n = 24) or inherited variants (n = 22). We identified three novel de novo variants in new candidate genes for ASD (DTX4, ARMC6, and B3GNT3). Also, we have identified 15 de novo variants in genes that were previously implicated in ASD or related neurodevelopmental disorders (PHF21A, WASF1, TCF20, DEAF1, MED13, CREBBP, KDM6B, SMURF1, ADNP, CACNA1G, MYT1L, KIF13B, GRIA2, CHM, and KCNK9). Additionally, we defined eight novel recessive variants (RYR2, DNAH3, TSPYL2, UPF3B KDM5C, LYST, and WNK3), four of which were X-linked. Conclusion: Despite the ASD multifactorial etiology that hinders ASD genetic risk discovery, the number of identified novel or known putative ASD genetic variants was appreciable. Nevertheless, this study represents the first comprehensive characterization of ASD genetic risk in Qatar’s Middle Eastern population.

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3. Alimohamadi A, Ghasemzadeh M, Fooladi F, Abdolmohamadi K, Killikelly C, Janghorbanian Z. Living-loss: A narrative synthesis review of the grief process in parents of children with autism spectrum disorder. J Pediatr Nurs. 2024.

PROBLEM: Realizing that a child has a lifelong developmental condition like Autism Spectrum Disorder (ASD) can create feelings of sadness and grief for the parents. It remains unclear, however, how parents deal with and understand these emotions. The purpose of this narrative review was to explore the grief process of parents of children with ASD. ELIGIBILITY CRITERIA: An analysis of the literature was conducted using the databases Psychinfo, Scopus, Web of Science, and PubMed. As part of our research, we also searched the grey literature (Google Scholar) and the thesis database (ProQuest) manually. Among the study criteria were (1) targeting direct informants as parents of children with ASD, (2) original and empirical research published in different English-language sources, (3) outcomes pertaining to grief experiences among parents, and/or processes involved in raising children with ASD, and (4) studies with qualitative data collection methods. SAMPLE: Seven articles met the inclusion criteria and were included in this narrative analysis. RESULTS: Our study’s deductive content analysis revealed three primary themes: (i) manifestations of ambiguous loss, (ii) dealing with disenfranchised grief, and (iii) oscillation. CONCLUSIONS: The results showed that ASD in children can cause parents to feel ambiguity and uncertainty, experience grief, and may result in the modification of expectations, emergent affective responses, and self-blame attributions. When confronted with difficulties arising from their child’s condition, parents of children with ASD may undergo significant life changes and oscillate between various coping strategies. IMPLICATIONS: The findings are expected to provide healthcare professionals, including nurses and front-line clinicians, with valuable information about the burden of grief experienced by parents of children with ASD so they can provide and validate the necessary support for them. Moreover, rigorous qualitative and quantitative studies are also required to support the claims made.

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4. Chi OZ, Liu X, Fortus H, Werlen G, Jacinto E, Weiss HR. Inhibition of p70 Ribosomal S6 Kinase (S6K1) Reduces Cortical Blood Flow in a Rat Model of Autism-Tuberous Sclerosis. Neuromolecular Med. 2024; 26(1): 10.

The manifestations of tuberous sclerosis complex (TSC) in humans include epilepsy, autism spectrum disorders (ASD) and intellectual disability. Previous studies suggested the linkage of TSC to altered cerebral blood flow and metabolic dysfunction. We previously reported a significant elevation in cerebral blood flow in an animal model of TSC and autism of young Eker rats. Inhibition of the mammalian target of rapamycin (mTOR) by rapamycin could restore normal oxygen consumption and cerebral blood flow. In this study, we investigated whether inhibiting a component of the mTOR signaling pathway, p70 ribosomal S6 kinase (S6K1), would yield comparable effects. Control Long Evans and Eker rats were divided into vehicle and PF-4708671 (S6K1 inhibitor, 75 mg/kg for 1 h) treated groups. Cerebral regional blood flow ((14)C-iodoantipyrine) was determined in isoflurane anesthetized rats. We found significantly increased basal cortical (+ 32%) and hippocampal (+ 15%) blood flow in the Eker rats. PF-4708671 significantly lowered regional blood flow in the cortex and hippocampus of the Eker rats. PF-4708671 did not significantly lower blood flow in these regions in the control Long Evans rats. Phosphorylation of S6-Ser240/244 and Akt-Ser473 was moderately decreased in Eker rats but only the latter reached statistical significance upon PF-4708671 treatment. Our findings suggest that moderate inhibition of S6K1 with PF-4708671 helps to restore normal cortical blood flow in Eker rats and that this information might have therapeutic potential in tuberous sclerosis complex and autism.

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5. da Rosa A, Bezerra OS, Rohde LA, Graeff-Martins AS. Exploring clozapine use in severe psychiatric symptoms associated with autism spectrum disorder: A scoping review. J Psychopharmacol. 2024: 2698811241241384.

BACKGROUND: Patients with autism spectrum disorder (ASD) may experience severe psychiatric symptoms, often unresponsive to conventional pharmacological therapies, highlighting the need for more effective alternatives. AIMS: This study aims to map and synthesize evidence on the use of clozapine as a therapeutic option for managing severe psychiatric symptomatology co-occurring with ASD. METHODS: We conducted a scoping review on multiple sources following the JBI guidelines. The search strategy was inclusive, targeting both peer-reviewed publications and gray literature presenting empirical data on the use of clozapine therapy for patients with ASD accompanied by comorbid psychiatric symptoms. Two independent evaluators performed the selection of studies, data extraction, and critical appraisal. RESULTS: The review included 46 studies, encompassing 122 ASD individuals who received clozapine therapy. The sources of evidence comprise 31 case reports, 8 case series, 6 retrospective observational studies, and 1 quasi-experimental prospective study. The tables present the findings along with a narrative summary. Clozapine treatment demonstrated benefits in four groups of severe and treatment-resistant psychiatric symptoms in ASD patients: disruptive behaviors, psychotic symptoms, catatonia, and mood symptoms. Although side effects were common, tolerability was generally satisfactory. However, severe adverse events, such as seizures, moderate neutropenia, and myocarditis, underscore the need for intensive clinical monitoring. CONCLUSIONS: While clozapine shows promise as a pharmacological intervention for severe psychopathologies in ASD, more rigorous clinical studies are required to elucidate its efficacy and safety in this population. The limited robustness of the evidence calls for caution, signaling an early research stage into this topic.

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6. De Froy A, Rollins PR. Task-related differences in the gesture production of young autistic children. Int J Lang Commun Disord. 2024.

BACKGROUND: In typically developing (TD) children, gesture emerges around 9 months of age, allowing children to communicate prior to speech. Due to the important role gesture plays in the early communication of autistic and TD children, various tasks have been used to assess gesture ability. However, few data exist on whether and how tasks differentially elicit gesture, particularly for samples of racially and ethnically diverse autistic children. AIMS: In this study, we explored if task (a naturalistic parent-child interaction [NPCI]; structured assessment of child communication) differentially elicited rate or type of gesture production for young autistic children. METHODS AND PROCEDURES: This secondary analysis included baseline data from 80 racially and ethnically diverse autistic children aged 18-59 months who participated in one of two larger studies. Video recordings of NPCIs and an assessment of child communication with standardised administration procedures were collected at baseline. Child gesture rate (number of gestures produced per 10 min) and type were extracted from these recordings and analysed. OUTCOMES AND RESULTS: The structured assessment elicited more gestures than the NPCI. In terms of gesture type, points, gives, and reaches accounted for 76% of child gestures. Points (which are developmentally more advanced than reaches and gives) were produced at the highest rates within book exploration. Distal points (which are more developmentally advanced than proximal or contact points) were produced at the highest rates when children were tempted to request. CONCLUSIONS AND IMPLICATIONS: Our findings indicate elicitation tasks differentially elicit type and rate of gesture for young autistic children. To assess the gesture production of young autistic children, a structured task designed to elicit child requests will probe the developmental sophistication of the child’s gesture repertoire, eliciting both the most gestures and the most developmentally advanced gestures. WHAT THIS PAPER ADDS: What is already known on the subject Because of the importance of gesture in early communication for autistic and typically developing children, various tasks have been used to assess it. However, little is known about whether tasks differentially elicit type or rate of gesture for young autistic children from diverse racial and ethnic backgrounds. What this paper adds to existing knowledge Elicitation tasks differentially elicit type and rate of gesture for young autistic children in the early stages of gesture. What are the potential or actual clinical implications of this work? We recommend a structured task designed to elicit child requests to assess the developmental sophistication of a child’s gesture repertoire.

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7. Ferrara R, Damato F, Iovino L, Marti F, Latina R, Colombi C, Ricci P. ESDM intervention in severe preschool autism: an Italian Case report, psychological and social medicine reflections. Ital J Pediatr. 2024; 50(1): 60.

BACKGROUND: The goal of our contribution is to discuss a preschool intervention based on the Early Start Denver Model and the use of the main tools for the detection of adaptive behaviour in cases of autism: Vineland, ABAS. CASE PRESENTATION: the work is the presentation of a clinical case that has benefited from an intervention with the Early Start Denver Model methodology for the benefit of a child with socio-cultural and economic disadvantages. This early intervention, in a child of 36 months, which followed the diagnosis, was possible thanks to the intervention of many third-sector organizations which allowed this child, with a serious autism profile, to receive an evidence-based intervention for free. At the beginning of the intervention, the child presented a diagnosis of severe autism with absence of gaze, vocalizations and other communicative impairments. The level of motor clumsiness was also quite high, as were stereotypies. CONCLUSIONS: Research has shown the usefulness of intervening in this area with an early assessment and/or diagnosis and immediate intervention; however, public health services are not always able to maintain this pace. Our contribution therefore shows on the one hand the evidence of the improvements achieved by the child despite the low intensity of the treatment, and on the other hand, demonstrates the total versatility and adaptability of the Denver Model to the Italian context. In our conclusions, there are also some reflections on the tools used to measure adaptive behavior which seem to have a number of limitations and criticalities.

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8. Guerrera S, Pontillo M, Chieppa F, Passarini S, Di Vincenzo C, Casula L, Di Luzio M, Valeri G, Vicari S. Autism Spectrum Disorder and Early Psychosis: a narrative review from a neurodevelopmental perspective. Front Psychiatry. 2024; 15: 1362511.

Autism Spectrum Disorder (ASD), characterized by socio-communicative abnormalities and restricted, repetitive, and stereotyped behaviors, is part of Neurodevelopmental Disorders (NDDs), a diagnostic category distinctly in accordance with the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, (DSM-5), clearly separated from Schizophrenia Spectrum Disorder (SSD) (schizophrenia, schizophreniform disorder, schizoaffective disorder, schizotypal personality disorder). Over the last four decades, this clear distinction is gradually being replaced, describing ASD and SSD as two heterogeneous conditions but with neurodevelopmental origins and overlaps. Referring to the proposal of a neurodevelopmental continuum model, the current research’s aim is to provide an update of the knowledge to date on the course of clinical symptoms and their overlaps among ASD and SSD. A narrative review of the literature published between January 2010 and June 2023 was conducted. Five studies were included. All studies show a global impairment in both conditions. Two studies show a focus on neurodevelopmental perspective in ASD and SSD. Only one study of these adopts a longitudinal prospective in terms of prognostic markers among ASD and SSD. Three studies underline the overlap between ASD and SSD in terms of negative, disorganized and positive symptomatology. To date, there is a gap in the current scientific literature focused on ASD-SSD course of clinical symptoms and their overlaps from a neurodevelopmental perspective. Future longitudinal studies to identify risk markers and tailored treatments are needed.

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9. Guo Z, Tang X, Xiao S, Yan H, Sun S, Yang Z, Huang L, Chen Z, Wang Y. Systematic review and meta-analysis: multimodal functional and anatomical neural alterations in autism spectrum disorder. Mol Autism. 2024; 15(1): 16.

BACKGROUND: This meta-analysis aimed to explore the most robust findings across numerous existing resting-state functional imaging and voxel-based morphometry (VBM) studies on the functional and structural brain alterations in individuals with autism spectrum disorder (ASD). METHODS: A whole-brain voxel-wise meta-analysis was conducted to compare the differences in the intrinsic functional activity and gray matter volume (GMV) between individuals with ASD and typically developing individuals (TDs) using Seed-based d Mapping software. RESULTS: A total of 23 functional imaging studies (786 ASD, 710 TDs) and 52 VBM studies (1728 ASD, 1747 TDs) were included. Compared with TDs, individuals with ASD displayed resting-state functional decreases in the left insula (extending to left superior temporal gyrus [STG]), bilateral anterior cingulate cortex/medial prefrontal cortex (ACC/mPFC), left angular gyrus and right inferior temporal gyrus, as well as increases in the right supplementary motor area and precuneus. For VBM meta-analysis, individuals with ASD displayed decreased GMV in the ACC/mPFC and left cerebellum, and increased GMV in the left middle temporal gyrus (extending to the left insula and STG), bilateral olfactory cortex, and right precentral gyrus. Further, individuals with ASD displayed decreased resting-state functional activity and increased GMV in the left insula after overlapping the functional and structural differences. CONCLUSIONS: The present multimodal meta-analysis demonstrated that ASD exhibited similar alterations in both function and structure of the insula and ACC/mPFC, and functional or structural alterations in the default mode network (DMN), primary motor and sensory regions. These findings contribute to further understanding of the pathophysiology of ASD.

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10. Jertberg RM, Begeer S, Geurts HM, Chakrabarti B, Van der Burg E. Age, not autism, influences multisensory integration of speech stimuli among adults in a McGurk/MacDonald paradigm. Eur J Neurosci. 2024.

Differences between autistic and non-autistic individuals in perception of the temporal relationships between sights and sounds are theorized to underlie difficulties in integrating relevant sensory information. These, in turn, are thought to contribute to problems with speech perception and higher level social behaviour. However, the literature establishing this connection often involves limited sample sizes and focuses almost entirely on children. To determine whether these differences persist into adulthood, we compared 496 autistic and 373 non-autistic adults (aged 17 to 75 years). Participants completed an online version of the McGurk/MacDonald paradigm, a multisensory illusion indicative of the ability to integrate audiovisual speech stimuli. Audiovisual asynchrony was manipulated, and participants responded both to the syllable they perceived (revealing their susceptibility to the illusion) and to whether or not the audio and video were synchronized (allowing insight into temporal processing). In contrast with prior research with smaller, younger samples, we detected no evidence of impaired temporal or multisensory processing in autistic adults. Instead, we found that in both groups, multisensory integration correlated strongly with age. This contradicts prior presumptions that differences in multisensory perception persist and even increase in magnitude over the lifespan of autistic individuals. It also suggests that the compensatory role multisensory integration may play as the individual senses decline with age is intact. These findings challenge existing theories and provide an optimistic perspective on autistic development. They also underline the importance of expanding autism research to better reflect the age range of the autistic population.

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11. Kanamori K, Suzuki T, Ota C. Parenting attitude towards children with autism spectrum disorders: the Japan environment and children’s study. BMJ Paediatr Open. 2024; 8(1).

OBJECTIVE: The primary objective of this study was to investigate the parenting attitudes towards children with autism spectrum disorders in early childhood in Japan. DESIGN: This study was a cohort study. The participants were enrolled from January 2011 to March 2014. We obtained the prevalence of autism spectrum disorders at 3 years of age, parenting attitudes and other factors from questionnaires. We divided the participants into two groups, an autism spectrum disorders group and a non-autism spectrum disorders group, and compared the parenting attitudes. SETTING: This study used data from a Japanese birth cohort study: the Japan Environment and Children’s Study, conducted across 15 regional centres in Japan. PARTICIPANTS: The full dataset of the Japan Environment and Children’s Study comprised 104 059 records. We excluded 17 889 records because the answer for the autism spectrum disorders in the questionnaire was blank. As a result, we analysed the remaining 82 411 mother-child pairs. MAIN OUTCOME MEASURES: The primary outcome variable was parenting attitudes at 3.5 years of age, which was assessed using a questionnaire. We asked respondents 16 questions related to parenting attitudes, and they answered based on their behaviours. The independent variable was the prevalence of autism spectrum disorders at 3 years of age. RESULTS: Of the 82 411 participants, the children with autism spectrum disorders at 3 years of age were 372 (0.45%). In most questions about parenting attitudes, the autism spectrum disorders group had unfavourable responses. The difference was particularly noticeable when the parents taught their children social discipline. Unfavourable parenting attitudes were 16.6% in the autism spectrum disorders group and 0.8% in the non-autism spectrum disorders group in the question item with the largest difference between the two groups, a significant difference. CONCLUSIONS: Parents of children with autism spectrum disorders tended to have unfavourable attitudes, suggesting the importance of parental training.

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12. Lang K. Autism and ADHD place « unprecedented » demand on NHS. Bmj. 2024; 385: q802.

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13. Lin CY, Wu YL, Chien YL, Gau SS. Quality of life and clinical correlates in cognitively-able autistic adults: A special focus on sensory characteristics and perceived parental support. J Formos Med Assoc. 2024.

BACKGROUND: Quality of life (QoL) has been suggested as an indicator of outcomes in autistic adults. Factors associated with QoL in autistic individuals remain unclear. This study aims to examine the subjective QoL for autistic adults in Taiwan and investigate the determinants for different domains of QoL. METHODS: The study comprised 90 autistic adults (aged 26.9, SD 7.3; males, 80.9%). We used Taiwanese version of World Health Organization Quality of Life-BREF to measure QoL. Four domains of QoL were compared with 61 non-autistic controls, including physical, psychological, social, and environment. To identify the correlates of QoL domains, we assessed IQ, personality trait, family support, anxiety/depressive symptoms, autistic severity, and sensory symptoms by various questionnaires, and assessed their association with QoL by correlation analyses and model selection. RESULTS: Our results showed that autistic adults reported lower QoL on the World Health Organization Quality of Life (WHOQOL)-BREF across all domains. QoL was significantly associated with autistic symptom severity, harm avoidance, family support, sensory symptoms, anxiety, and depression, but not intelligence. Model selections revealed male sex, poor paternal support, autism severity, depression, anxiety, and sensory symptoms were associated with specific QoL domains. CONCLUSION: Findings supported lower QoL in autistic adults. Modifying the QoL correlates may improve life quality in autistic adults. Furthermore, our findings revealed the importance of sensory symptoms and paternal support in QoL of autistic adults, which was a novel finding in this population.

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14. Meneses Castaño CY, Penagos P. Transcranial Magnetic Stimulation in the Treatment of Autism Spectrum Disorder: An Approach. Curr Pediatr Rev. 2024.

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15. Morgado F, Vandewouw MM, Hammill C, Kelley E, Crosbie J, Schachar R, Ayub M, Nicolson R, Georgiades S, Arnold P, Iaboni A, Kushki A, Taylor MJ, Anagnostou E, Lerch JP. Behaviour-correlated profiles of cerebellar-cerebral functional connectivity observed in independent neurodevelopmental disorder cohorts. Transl Psychiatry. 2024; 14(1): 173.

The cerebellum, through its connectivity with the cerebral cortex, plays an integral role in regulating cognitive and affective processes, and its dysregulation can result in neurodevelopmental disorder (NDD)-related behavioural deficits. Identifying cerebellar-cerebral functional connectivity (FC) profiles in children with NDDs can provide insight into common connectivity profiles and their correlation to NDD-related behaviours. 479 participants from the Province of Ontario Neurodevelopmental Disorders (POND) network (typically developing = 93, Autism Spectrum Disorder = 172, Attention Deficit/Hyperactivity Disorder = 161, Obsessive-Compulsive Disorder = 53, mean age = 12.2) underwent resting-state functional magnetic resonance imaging and behaviour testing (Social Communication Questionnaire, Toronto Obsessive-Compulsive Scale, and Child Behaviour Checklist – Attentional Problems Subscale). FC components maximally correlated to behaviour were identified using canonical correlation analysis. Results were then validated by repeating the investigation in 556 participants from an independent NDD cohort provided from a separate consortium (Healthy Brain Network (HBN)). Replication of canonical components was quantified by correlating the feature vectors between the two cohorts. The two cerebellar-cerebral FC components that replicated to the greatest extent were correlated to, respectively, obsessive-compulsive behaviour (behaviour feature vectors, r(POND-HBN) = -0.97; FC feature vectors, r(POND-HBN) = -0.68) and social communication deficit contrasted against attention deficit behaviour (behaviour feature vectors, r(POND-HBN) = -0.99; FC feature vectors, r(POND-HBN) = -0.78). The statistically stable (|z| > 1.96) features of the FC feature vectors, measured via bootstrap re-sampling, predominantly comprised of correlations between cerebellar attentional and control network regions and cerebral attentional, default mode, and control network regions. In both cohorts, spectral clustering on FC loading values resulted in subject clusters mixed across diagnostic categories, but no cluster was significantly enriched for any given diagnosis as measured via chi-squared test (p > 0.05). Overall, two behaviour-correlated components of cerebellar-cerebral functional connectivity were observed in two independent cohorts. This suggests the existence of generalizable cerebellar network differences that span across NDD diagnostic boundaries.

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16. Polzer L, Schenk M, Raji N, Kleber S, Lemler C, Kitzerow-Cleven J, Kim Z, Freitag CM, Bast N. Temporal progression of pupil dilation and gaze behavior to emotion expressions in preschoolers with autism spectrum disorder. Sci Rep. 2024; 14(1): 7843.

Previous work has shown divergent pupil dilation (PD) and gaze behavior in individuals with autism spectrum disorder (ASD), which may relate to the development of social difficulties in early life. Here, we investigated temporal dynamics of both phenotypes during naturalistic videos of a person displaying facial emotion expressions in 61 autistic and 61 non-autistic preschoolers. PD was segmented into three serial time components derived from a principal component analysis. Growth curve analysis was applied to analyze changes in looking time on eye and mouth regions over time. Groups did not differ in PD time components. Growth curve analysis revealed initially shorter looking times on the eyes and longer looking times on the mouth in autistic versus non-autistic preschoolers. However, a reversion of this pattern was observed over time, suggesting a delayed compensatory increase in eye attention during prolonged viewing periods in autistic children. Positive and negative associations of PD components and gaze behavior over time indicated a dynamic temporal relationship during emotion viewing. Our findings emphasize the need to apply time-sensitive measures in ecologically valid research, which may index etiological mechanisms of social difficulties in ASD.

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17. Rødgaard EM, Rodríguez-Herreros B, Zeribi A, Jensen K, Courchesne V, Douard E, Gagnon D, Huguet G, Jacquemont S, Mottron L. Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder. Mol Autism. 2024; 15(1): 15.

BACKGROUND: Clinicians diagnosing autism rely on diagnostic criteria and instruments in combination with an implicit knowledge based on clinical expertise of the specific signs and presentations associated with the condition. This implicit knowledge influences how diagnostic criteria are interpreted, but it cannot be directly observed. Instead, insight into clinicians’ understanding of autism can be gained by investigating their diagnostic certainty. Modest correlations between the certainty of an autism diagnosis and symptom load have been previously reported. Here, we investigated the associations of diagnostic certainty with specific items of the ADOS as well as other clinical features including head circumference. METHODS: Phenotypic data from the Simons Simplex Collection was used to investigate clinical correlates of diagnostic certainty in individuals diagnosed with Autistic Disorder (n = 1511, age 4 to 18 years). Participants were stratified by the ADOS module used to evaluate them. We investigated how diagnostic certainty was associated with total ADOS scores, age, and ADOS module. We calculated the odds-ratios of being diagnosed with the highest possible certainty given the presence or absence of different signs during the ADOS evaluation. Associations between diagnostic certainty and other cognitive and clinical variables were also assessed. RESULTS: In each ADOS module, some items showed a larger association with diagnostic certainty than others. Head circumference was significantly higher for individuals with the highest certainty rating across all three ADOS modules. In turn, head circumference was positively correlated with some of the ADOS items that were associated with diagnostic certainty, and was negatively correlated with verbal/nonverbal IQ ratio among those assessed with ADOS module 2. LIMITATIONS: The investigated cohort was heterogeneous, e.g. in terms of age, IQ, language level, and total ADOS score, which could impede the identification of associations that only exist in a subgroup of the population. The variability of the certainty ratings in the sample was low, limiting the power to identify potential associations with other variables. Additionally, the scoring of diagnostic certainty may vary between clinicians. CONCLUSION: Some ADOS items may better capture the signs that are most associated with clinicians’ implicit knowledge of Autistic Disorder. If replicated in future studies, new diagnostic instruments with differentiated weighting of signs may be needed to better reflect this, possibly resulting in better specificity in standardized assessments.

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18. Sapey-Triomphe LA, Puts NAJ, Costa TL, Wagemans J. GABA and Glx predict EEG responses of visual sensitivity in autism. Autism Res. 2024.

The mechanisms underlying atypical sensory processing in autism remain to be elucidated, but research points toward a role of the glutamatergic/GABAergic balance. To investigate the potential relationships between visual sensitivity and its molecular correlates in autism, we combined data from electroencephalography (EEG) and magnetic resonance spectroscopy (MRS) studies. Twenty autistic adults and sixteen neurotypical adults (NT) participated in both an EEG study assessing visual sensitivity (Sapey-Triomphe et al., Autism Research, 2023) and in an MRS study measuring Glx and GABA+ concentrations in the occipital cortex (Sapey-Triomphe et al., Molecular Autism, 2021). These studies revealed no group differences in neural detection thresholds or in Glx/GABA levels in the occipital cortex. Neural detection thresholds for contrast and spatial frequency (SF) were determined using fast periodic visual stimulations and neural frequency tagging. In the present study, Glx/GABA+ concentrations in the occipital cortex and neural detection thresholds did not differ between groups. Interestingly, lower Glx/GABA+ ratios were associated with lower contrast detection thresholds and higher SF detection thresholds. These correlations were also significant within the neurotypical and autistic groups. This report suggests that the Glx/GABA balance regulates visual detection thresholds across individuals. In both autistic and NTs, lower Glx/GABA ratios in the occipital cortex allow for better detection of visual inputs at the neural level. This study sheds light on the neurochemical underpinnings of visual sensitivity in autism and warrants further investigation.

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19. Uzonyi TE, Crais ER, Watson LR, Nowell SW, Baranek GT. Measuring Parent-Child Transactions for Early Identification of Young Autistic Children. J Autism Dev Disord. 2024.

This study explored the salient characteristics of transactions within parent-child engagement and investigated relationships between transactional characteristics and future identification of autism. The main aims of the study were to (1) examine if parents/children and their initial behaviors impact the length of transaction; (2) determine miscue differences among parents and children; and (3) determine if transactional characteristics are predictive of autism at preschool age.The study sample was drawn from extant data of a parent-mediated intervention for young children showing early sings of autism. Thirty parent-child dyad videos were randomly selected and coded for transactions. Statistical analyses were applied to examine the study aims and to perform post-hoc analyses.The length of transaction increased when children initiated with a look cue. Parents displayed a higher proportion of miscues and greater variance in their miscue behavior than their children. Neither the length of transaction nor the proportion of child miscues at 1-year of age predicted an autism diagnosis at preschool age. Post-hoc analyses revealed that girls with high variance of transaction length at 1-year of age, had a lower likelihood of showing autism traits at preschool age. Sustained transactions were more likely when children initiated engagement by looking. Early transactional characteristics were associated with later autism identification among girls, namely longer median transaction length with lower variance of transaction length. This transaction profile is believed to represent high fixation on topics with less ability to explore varied topics.

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20. Wong ML, Girdler S, Afsharnejad B, Ntoumanis N, Milbourn B, Kebble P, Morris S, Black MH. Motivation to participate in structured physical activity for autistic youth: A systematic scoping review. Autism. 2024: 13623613241240603.

Autistic youth participate less in physical education classes and organised sport than their neurotypical peers. We conducted a review of existing studies to investigate what is known about what motivates (and does not motivate) autistic youth to take part in structured physical activities. We systematically searched electronic databases and found 18 publications that met the criteria to be included in this review. Data from these studies were extracted and mapped to the self-determination theory to identify factors that support (or undermine) motivation for autistic youth. We also discussed the findings with autistic individuals and other relevant stakeholders to discover how the review related to their experiences. Our results found competence (youth feeling competent in their athletic and social skills and abilities) to be the most reported psychological need impacting motivation for autistic youth. Intrinsic motivation (participating for enjoyment and satisfaction) was the most common facilitator of motivation. Autism-specific themes outside of the self-determination theory were mapped inductively, and we found that the sensory environment was a prominent theme reported to influence the motivation of autistic youth not covered by the self-determination theory. The findings of this review suggest that supporting the psychological needs of autistic youth can foster motivation to engage in physical activity, although how these needs are met can differ from their neurotypical peers. Future research should examine motivational factors that support engagement in structured physical activities through the lens of autistic youth and their experiences.

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21. Wu S, Wang J, Zhang Z, Jin X, Xu Y, Si Y, Liang Y, Ge Y, Zhan H, Peng L, Bi W, Luo D, Li M, Meng B, Guan Q, Zhao J, Gao L, He Z. Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons. Mol Autism. 2024; 15(1): 14.

BACKGROUND: SH3 and multiple ankyrin repeat domains protein 3 (SHANK3) monogenic mutations or deficiency leads to excessive stereotypic behavior and impaired sociability, which frequently occur in autism cases. To date, the underlying mechanisms by which Shank3 mutation or deletion causes autism and the part of the brain in which Shank3 mutation leads to the autistic phenotypes are understudied. The hypothalamus is associated with stereotypic behavior and sociability. p38α, a mediator of inflammatory responses in the brain, has been postulated as a potential gene for certain cases of autism occurrence. However, it is unclear whether hypothalamus and p38α are involved in the development of autism caused by Shank3 mutations or deficiency. METHODS: Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis and immunoblotting were used to assess alternated signaling pathways in the hypothalamus of Shank3 knockout (Shank3(-/-)) mice. Home-Cage real-time monitoring test was performed to record stereotypic behavior and three-chamber test was used to monitor the sociability of mice. Adeno-associated viruses 9 (AAV9) were used to express p38α in the arcuate nucleus (ARC) or agouti-related peptide (AgRP) neurons. D176A and F327S mutations expressed constitutively active p38α. T180A and Y182F mutations expressed inactive p38α. RESULTS: We found that Shank3 controls stereotypic behavior and sociability by regulating p38α activity in AgRP neurons. Phosphorylated p38 level in hypothalamus is significantly enhanced in Shank3(-/-) mice. Consistently, overexpression of p38α in ARC or AgRP neurons elicits excessive stereotypic behavior and impairs sociability in wild-type (WT) mice. Notably, activated p38α in AgRP neurons increases stereotypic behavior and impairs sociability. Conversely, inactivated p38α in AgRP neurons significantly ameliorates autistic behaviors of Shank3(-/-) mice. In contrast, activated p38α in pro-opiomelanocortin (POMC) neurons does not affect stereotypic behavior and sociability in mice. LIMITATIONS: We demonstrated that SHANK3 regulates the phosphorylated p38 level in the hypothalamus and inactivated p38α in AgRP neurons significantly ameliorates autistic behaviors of Shank3(-/-) mice. However, we did not clarify the biochemical mechanism of SHANK3 inhibiting p38α in AgRP neurons. CONCLUSIONS: These results demonstrate that the Shank3 deficiency caused autistic-like behaviors by activating p38α signaling in AgRP neurons, suggesting that p38α signaling in AgRP neurons is a potential therapeutic target for Shank3 mutant-related autism.

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22. Zajic MC, Gudknecht J. Person- and identity-first language in autism research: A systematic analysis of abstracts from 11 autism journals. Autism. 2024: 13623613241241202.

There are many ways to refer to an individual who is on the autism spectrum. A recommended approach has been to use person-first language (PFL), such as « person with autism. » A different approach is to use identity-first language (IFL), such as « autistic person. » Recent studies focused on different groups of people (e.g. autistic self-advocates, parents, and practitioners) show that some groups prefer PFL (practitioners) while others prefer IFL (autistic self-advocates). However, less is known about how researchers use PFL and IFL in academic writing (e.g. studies published in scientific journals) involving autistic research participants. Our study examined 12,962 journal abstracts (short summaries of scientific articles) from 11 academic journals that publish autism research findings. We wanted to know (a) about the use of PFL and IFL across abstracts, and (b) how PFL and IFL use has changed annually over time. We examined data for all journals individually and grouped together. Our findings showed that journal abstracts generally use PFL (65%) with some using either IFL (16%) or both PFL and IFL (20%). However, journals varied, with some showing a clear majority for PFL and a couple for IFL. Examining trends over time across journals showed that while PFL appeared to be the majority for most journals, IFL has steadily increased in the recent few years. Our study helps us understand how autism researchers write about autistic individuals and offers implications for helping researchers intentionally make choices about the language used in their autism research studies.

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23. Zhang H, Chen J, Liao B, Wu FX, Bi XA. Deep Canonical Correlation Fusion Algorithm Based on Denoising Autoencoder for ASD Diagnosis and Pathogenic Brain Region Identification. Interdiscip Sci. 2024.

Autism Spectrum Disorder (ASD) is defined as a neurodevelopmental condition distinguished by unconventional neural activities. Early intervention is key to managing the progress of ASD, and current research primarily focuses on the use of structural magnetic resonance imaging (sMRI) or resting-state functional magnetic resonance imaging (rs-fMRI) for diagnosis. Moreover, the use of autoencoders for disease classification has not been sufficiently explored. In this study, we introduce a new framework based on autoencoder, the Deep Canonical Correlation Fusion algorithm based on Denoising Autoencoder (DCCF-DAE), which proves to be effective in handling high-dimensional data. This framework involves efficient feature extraction from different types of data with an advanced autoencoder, followed by the fusion of these features through the DCCF model. Then we utilize the fused features for disease classification. DCCF integrates functional and structural data to help accurately diagnose ASD and identify critical Regions of Interest (ROIs) in disease mechanisms. We compare the proposed framework with other methods by the Autism Brain Imaging Data Exchange (ABIDE) database and the results demonstrate its outstanding performance in ASD diagnosis. The superiority of DCCF-DAE highlights its potential as a crucial tool for early ASD diagnosis and monitoring.

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