Pubmed du 24/04/23

Pubmed du jour

1. Adiani D, Breen M, Migovich M, Wade J, Hunt S, Tauseef M, Khan N, Colopietro K, Lanthier M, Swanson A, Vogus TJ, Sarkar N. Multimodal job interview simulator for training of autistic individuals. Assistive technology : the official journal of RESNA. 2023: 1-18.

Autistic individuals face difficulties in finding and maintaining employment, and studies have shown that the job interview is often a significant barrier to obtaining employment. Prior computer-based job interview training interventions for autistic individuals have been associated with better interview outcomes. These previous interventions, however, do not leverage the use of multimodal data that could give insight into the emotional underpinnings of autistic individuals’ challenges in job interviews. In this article, the authors present the design of a novel multimodal job interview training platform called CIRVR that simulates job interviews through spoken interaction and collects eye gaze, facial expressions, and physiological responses of the participants to understand their stress response and their affective state. Results from a feasibility study with 23 autistic participants who interacted with CIRVR are presented. In addition, qualitative feedback was gathered from stakeholders on visualizations of data on CIRVR’s visualization tool called the Dashboard. The data gathered indicate the potential of CIRVR along with the Dashboard to be used in the creation of individualized job interview training of autistic individuals.

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2. Carruthers S, Pickles A, Charman T, McConachie H, Le Couteur A, Slonims V, Howlin P, Collum R, Salomone E, Tobin H, Gammer I, Maxwell J, Aldred C, Parr J, Leadbitter K, Green J. Mediation of 6-year mid-childhood follow-up outcomes after pre-school social communication (PACT) therapy for autistic children: randomised controlled trial. Journal of child psychology and psychiatry, and allied disciplines. 2023.

BACKGROUND: There are very few mechanistic studies of the long-term impact of psychosocial interventions in childhood. The parent-mediated Paediatric Autism Communication Therapy (PACT) RCT showed sustained effects on autistic child outcomes from pre-school to mid-childhood. We investigated the mechanism by which the PACT intervention achieved these effects. METHODS: Of 152 children randomised to receive PACT or treatment as usual between 2 and 5 years of age, 121 (79.6%) were followed 5-6 years after the endpoint at a mean age of 10.5 years. Assessors, blind to the intervention group, measured Autism Diagnostic Observation Scale Calibrated Severity Score (ADOS CSS) for child autistic behaviours and Teacher Vineland (TVABS) for adaptive behaviour in school. Hypothesised mediators were child communication initiations with caregivers in a standard play observation (Dyadic Communication Measure for Autism, DCMA). Hypothesised moderators of mediation were baseline child non-verbal age equivalent scores (AE), communication and symbolic development (CSBS) and ‘insistence on sameness’ (IS). Structural equation modelling was used in a repeated measures mediation design. RESULTS: Good model fits were obtained. The treatment effect on child dyadic initiation with the caregiver was sustained through the follow-up period. Increased child initiation at treatment midpoint mediated the majority (73%) of the treatment effect on follow-up ADOS CSS. A combination of partial mediation from midpoint child initiations and the direct effect of treatment also contributed to a near-significant total effect on follow-up TVABS. No moderation of this mediation was found for AE, CSBS or IS. CONCLUSIONS: Early sustained increase in an autistic child’s communication initiation with their caregiver is largely responsible for the long-term effects from PACT therapy on autistic and adaptive behaviour outcomes. This supports the theoretical logic model of PACT therapy but also illuminates fundamental causal processes of social and adaptive development in autism over time: early social engagement in autism can be improved and this can have long-term generalised outcome effects.

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3. Chan AS, Ding Z, Lee TL, Sze SL, Cheung MC. Temporal processing deficit in children and adolescents with autism spectrum disorder: An online assessment. Digital health. 2023; 9: 20552076231171500.

OBJECTIVE: The sensory deficit has been considered as one of the core features in children and adolescents with autism spectrum disorder (ASD). The present study aimed to examine the temporal processing of simple and more complex auditory inputs in ASD children and adolescents with an online assessment that can be conducted remotely. METHODS: One hundred fifty-eight children and adolescents aged 5-17 years participated in this study, including 79 ASD participants and 79 typically developing (TD) participants. The online assessment consisted of two temporal-order judgment tasks that required repeating the sequence of two pure tones or consonant-vowel (CV) syllabic pairs at varying interstimulus intervals (ISIs). RESULTS: Significantly lower accuracy rates were found in ASD than TD participants in the pure tone and the CV conditions with both short and long ISI. In addition, ASD participants (M  =  245.97 ms) showed a significantly higher passing threshold than TD participants (M  =  178.84 ms) in the CV task. Receiver operating characteristic analysis found that the age × ISI passing threshold composite yielded a sensitivity of 74.7% and a specificity of 50.6% at the cutoff point of -0.307 in differentiating ASD participants from TD participants. CONCLUSION: In sum, children and adolescents with ASD showed impaired temporal processing of both simple and more complex auditory stimuli, and the online assessment seems to be sensitive in differentiating individuals with ASD from those with TD.

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4. Freeth M, Morgan EJ. I see you, you see me: the impact of social presence on social interaction processes in autistic and non-autistic people. Philosophical transactions of the Royal Society of London Series B, Biological sciences. 2023; 378(1875): 20210479.

Environments that require social interaction are complex, challenging and sometimes experienced as overwhelming by autistic people. However, all too often theories relating to social interaction processes are created, and interventions are proposed, on the basis of data collected from studies that do not involve genuine social encounters nor do they consider the perception of social presence to be a potentially influential factor. In this review, we begin by considering why face-to-face interaction research is important in this field. We then discuss how the perception of social agency and social presence can influence conclusions about social interaction processes. We then outline some insights gained from face-to-face interaction research conducted with both autistic and non-autistic people. We finish by considering the impact of social presence on cognitive processes more broadly, including theory of mind. Overall, we demonstrate that choice of stimuli in studies assessing social interaction processes has the potential to substantially alter conclusions drawn. Ecological validity matters and social presence, in particular, is a critical factor that fundamentally impacts social interaction processes in both autistic and non-autistic people. This article is part of a discussion meeting issue ‘Face2face: advancing the science of social interaction’.

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5. Gilroy SP, McCleery JP, Leader G. A delayed intervention start randomized controlled trial of high- and low-tech communication training approaches for school-age autistic children with co-occurring intellectual disability. Journal of applied behavior analysis. 2023.

The researchers designed a delayed intervention start randomized controlled trial to compare improvements in functional communication following augmentative and alternative communication (AAC) interventions. The study compared outcomes from function-based applied behavior analytic (ABA) and eclectic non-ABA forms of classroom-based communication strategies (waitlist control) as well as from high- and low-tech forms of AAC. High-tech AAC consisted of tablet-based communication, and low-tech AAC used an exchange of picture cards. The community-based sample consisted of 29 autistic children with a co-occurring intellectual disability. Participants were randomized to groups (AAC, waitlist control), and each group received approximately 3 months of communication intervention. Multilevel modeling of learner outcomes indicated that the function-based approach produced greater improvements than the eclectic alternative, but significant differences were not observed between outcomes of high- and low-tech forms of function-based AAC. These results are consistent with earlier investigations and provide supporting evidence that both high- and low-tech forms of function-based intervention are effective for use with autistic children with accompanying intellectual disability. Additional discussion is provided regarding further research into how technology is applied and incorporated into behavior analytic programming.

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6. Guissart C, Polge A, Durand N, Miret A, Lumbroso S, Francannet C, Mouzat K. Discovering the ANK2-related autism phenotype. Clinical genetics. 2023.

Interestingly, disease-causing mutations in the ANK2 gene have been identified in patients with autism since 2012, though with no full clinical description. In this Research Letter, for the first time, we describe the detailed characteristics of a patient with autism caused by a new mutation in this gene. Our report is a first step to better understanding ANK2-related autism and will contribute to facilitating its further diagnosis.

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7. Hall A, Maw R, Iles-Caven Y, Gregory S, Rai D, Golding J. Associations between autistic traits and early ear and upper respiratory signs: a prospective observational study of the Avon Longitudinal Study of Parents and Children (ALSPAC) geographically defined childhood population. BMJ open. 2023; 13(3): e067682.

OBJECTIVE: To determine whether early ear and upper respiratory signs are associated with the development of high levels of autistic traits or diagnosed autism. DESIGN: Longitudinal birth cohort: Avon Longitudinal Study of Parents and Children (ALSPAC). SETTING: Area centred on the city of Bristol in Southwest England. Eligible pregnant women resident in the area with expected date of delivery between April 1991 and December 1992 inclusive. PARTICIPANTS: 10 000+ young children followed throughout their first 4 years. Their mothers completed three questionnaires between 18-42 months recording the frequency of nine different signs and symptoms relating to the upper respiratory system, as well as ear and hearing problems. OUTCOME MEASURES: Primary-high levels of autism traits (social communication, coherent speech, sociability, and repetitive behaviour); secondary-diagnosed autism. RESULTS: Early evidence of mouth breathing, snoring, pulling/poking ears, ears going red, hearing worse during a cold, and rarely listening were associated with high scores on each autism trait and with a diagnosis of autism. There was also evidence of associations of pus or sticky mucus discharge from ears, especially with autism and with poor coherent speech. Adjustment for 10 environmental characteristics made little difference to the results, and substantially more adjusted associations were at p<0.001 than expected by chance (41 observed; 0.01 expected). For example, for discharge of pus or sticky mucus from ears the adjusted odds ratio (aOR) for autism at 30 months was 3.29 (95% CI 1.85 to 5.86, p<0.001), and for impaired hearing during a cold the aOR was 2.18 (95% CI 1.43 to 3.31, p<0.001). CONCLUSIONS: Very young children exhibiting common ear and upper respiratory signs appear to have an increased risk of a subsequent diagnosis of autism or demonstrated high levels of autism traits. Results suggest the need for identification and management of ear, nose and throat conditions in autistic children and may provide possible indicators of causal mechanisms.

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8. Ji Y, Ji Y, Zhu HL, Cheng SM, Zou XB, Zhu FL. Examine sex differences in autism spectrum disorder in school-aged children and adolescents with fluent language. Frontiers in psychiatry. 2023; 14: 1151596.

There are noteworthy sex disparities in the prevalence of autism spectrum disorders (ASD), while findings regarding the sex differences in core symptoms are inconsistent. There are few relevant studies on sex differences in mainland China. This study was dedicated to a deeper understanding of the impact of sex differences on the clinical presentation of ASD with fluent language. We retrospectively studied 301 children with ASD (58 females) and utilized raw scores from the ADI-R and ADOS and the intelligence quotient (IQ) to measure symptomatology. Based on the Full-Scale IQ (FS-IQ), a binary split of average, above-average IQ (high-IQ), and below-average IQ (low IQ) occurs at 85. Across the entire sample, males and females are comparable in the FS-IQ, while males scored higher in the Perceptual Reasoning Index (PRI) (F = 7.812, p = 0.006). ADI-R did not find any statistically significant sex differences in the diagnostic cutoff score satisfaction or the raw domain scores. While a significant effect of sex on ADOS social affect domain scores was found in the total sample [λ = 0.970, partial η(2)  = 0.030, F (3,295) = 3.019, p = 0.030]. Tests of between-subjects effects revealed that males scored higher than females mainly in the ADOS reciprocal social interaction subcategory (partial η(2)  = 0.022, F = 6.563, p = 0.011). Stratified analysis revealed that the effect of sex on ADOS reciprocal social interaction subcategory scores only significant in the low-IQ children with ASD (partial η(2)  = 0.092, F = 10.088, p = 0.002). In general, overall cognitive functioning is similar across males and females with ASD, while males have a higher perceptual reasoning ability. Females with ASD are more likely to have comorbid intellectual impairment than males, and they could require additional intervention support. Autistic children with low IQs are more likely to exhibit sex differences in their core symptoms than children with high IQs. Intelligence plays a key role in sex-based differences in the core symptoms of ASD.

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9. Kuruppath P, Xue L, Pouille F, Jones ST, Schoppa NE. Hyperexcitability in the olfactory bulb and impaired fine odor discrimination in the Fmr1 KO mouse model of fragile X syndrome. bioRxiv : the preprint server for biology. 2023.

Fragile X syndrome (FXS) is the single most common monogenetic cause of autism spectrum disorders in humans. FXS is caused by loss of expression of the Fragile X mental retardation protein (FMRP), an mRNA-binding protein encoded on the X chromosome involved in suppressing protein translation. Sensory processing deficits have been a major focus of studies of FXS in both humans and rodent models of FXS, but olfactory deficits remain poorly understood. Here we conducted experiments in wild-type and Fmr1 KO ( Fmr1 (-/y) ) mice (males) that lack expression of the gene encoding FMRP to assess olfactory circuit and behavioral abnormalities. In patch-clamp recordings conducted in slices of the olfactory bulb, output mitral cells (MCs) in Fmr1 KO mice displayed greatly enhanced excitation, as evidenced by a much higher rate of occurrence of spontaneous network-level events known as long-lasting depolarizations (LLDs). The higher probability of LLDs did not appear to reflect changes in inhibitory connections onto MCs but rather enhanced spontaneous excitation of external tufted cells (eTCs) that provide feedforward excitation onto MCs within glomeruli. In addition, in a go/no-go operant discrimination paradigm, we found that Fmr1 KO mice displayed impaired discrimination of odors in difficult tasks that involved odor mixtures but not altered discrimination of monomolecular odors. We suggest that the higher excitability of MCs in Fmr1 KO mice may impair fine odor discrimination by broadening odor tuning curves of MCs and/or altering synchronized oscillations through changes in transient inhibition. SIGNIFICANCE STATEMENT: Fragile X syndrome (FXS) in humans is associated with a range of debilitating deficits including aberrant sensory processing. One sensory system that has received comparatively little attention in studies in animal models of FXS is olfaction. Here, we report the first comprehensive physiological analysis of circuit defects in the olfactory bulb in the commonly-used Fmr1 knockout (KO) mouse model of FXS. Our studies indicate that Fmr1 KO alters the local excitation/inhibition balance in the bulb – similar to what Fmr1 KO does in other brain circuits – but through a novel mechanism that involves enhanced feedforward excitatory drive. Furthermore, Fmr1 KO mice display behavioral impairments in fine odor discrimination, an effect that may be explained by enhanced neural excitability.

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10. Lee SH, McKee A. Reading ebooks and printed books with parents: A case study of children with autism spectrum disorders. Autism & developmental language impairments. 2023; 8: 23969415231168571.

BACKGROUND AND AIMS: Ebooks have become a ubiquitous presence in many classrooms today. Yet, empirical evidence on literacy development has not been well produced, especially for children with autism spectrum disorder (ASD). This mixed-method case study aimed to explore how four children with ASD interact with ebooks and printed books with parents at home. METHODS: Four children (age 5-7 years) with ASD and their parents read one animated ebook and another printed book over four separate sessions. Parents also explained preselected word meanings to their children. In this mixed-method case study, we examined multiple quantitative and qualitative sources of evidence related to reading with parents at home. RESULTS: Quantitatively, all four children with ASD learned more word meanings from ebook than from the printed book, and three demonstrated a higher engagement with ebook than the printed book reading. Qualitatively, the majority of parents felt their children’s engagement was higher with ebook than with printed book. Children with ASD tend to have tactile-related experiences while reading the printed book and auditory-related experiences during the ebook reading. Qualitative data also demonstrated a particular feature reported to be beneficial in previous research could be distracting for some children with ASD. IMPLICATIONS: When parents are trained to explain critical word meanings to their children, animated ebooks can effectively improve the meaning-making skills of children with ASD. Findings also highlight the importance of individualized attention when choosing and using ebooks for children with ASD.

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11. Leland E, Fasano RM, Moffitt JM, Romero C, Cepero C, Messinger DS, Perry LK. Automated measurement: The need for a more objective view of the speech and language of autistic children. Frontiers in human neuroscience. 2023; 17: 1124273.

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12. Liu A, Lu Y, Gong C, Sun J, Wang B, Jiang Z. Bibliometric Analysis of Research Themes and Trends of the Co-Occurrence of Autism and ADHD. Neuropsychiatric disease and treatment. 2023; 19: 985-1002.

BACKGROUND: In recent years, there has been a growing body of research suggesting that ASD and ADHD are two disorders that often co-exist. Despite the rapid development of research, little is known about their etiology, diagnostic markers, and interventions, which has led us to review and summarise the development of the field in the hope that this will provide an opportunity to look for future directions. METHODS: A bibliometric approach was used to analyse papers in the field of ASD co-morbidities in ADHD on Web of Science from 1991-2022, using CiteSpace and VOSview to map the country/institution, journal, author, co-citation, and keyword networks in the field and to visualise the results. RESULTS: A total of 3284 papers were included, showing an increasing trend in terms of posting trends. Research on co-morbidities of ASD has proven to be mainly focused on universities. The USA (1662) published the most relevant literature in this area, followed by the UK (651) and Sweden (388). Lichtenstein P is the most published author (84), and research into the pathogenesis of ASD co-occurring ADHD and related clinical diagnostics is currently at the forefront of the field. CONCLUSION: This analysis identifies the most influential institutions and countries, cited journals, and authors in the field of ASD co-morbid ADHD research. The future direction of ASD co-occurring ADHD should be based on improving case identification, discovering the etiological and diagnostic markers of ASD and ADHD, and finding more effective clinical interventions.

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13. Minissi ME, Gómez-Zaragozá L, Marín-Morales J, Mantovani F, Sirera M, Abad L, Cervera-Torres S, Gómez-García S, Chicchi Giglioli IA, Alcañiz M. The whole-body motor skills of children with autism spectrum disorder taking goal-directed actions in virtual reality. Frontiers in psychology. 2023; 14: 1140731.

Many symptoms of the autism spectrum disorder (ASD) are evident in early infancy, but ASD is usually diagnosed much later by procedures lacking objective measurements. It is necessary to anticipate the identification of ASD by improving the objectivity of the procedure and the use of ecological settings. In this context, atypical motor skills are reaching consensus as a promising ASD biomarker, regardless of the level of symptom severity. This study aimed to assess differences in the whole-body motor skills between 20 children with ASD and 20 children with typical development during the execution of three tasks resembling regular activities presented in virtual reality. The virtual tasks asked to perform precise and goal-directed actions with different limbs vary in their degree of freedom of movement. Parametric and non-parametric statistical methods were applied to analyze differences in children’s motor skills. The findings endorsed the hypothesis that when particular goal-directed movements are required, the type of action could modulate the presence of motor abnormalities in ASD. In particular, the ASD motor abnormalities emerged in the task requiring to take with the upper limbs goal-directed actions with low degree of freedom. The motor abnormalities covered (1) the body part mainly involved in the action, and (2) further body parts not directly involved in the movement. Findings were discussed against the background of atypical prospective control of movements and visuomotor discoordination in ASD. These findings contribute to advance the understanding of motor skills in ASD while deepening ecological and objective assessment procedures based on VR.

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14. Murari K, Abushaibah A, Rho JM, Turner RW, Cheng N. A clinically relevant selective ERK-pathway inhibitor reverses core deficits in a mouse model of autism. EBioMedicine. 2023; 91: 104565.

BACKGROUND: Extracellular signal-regulated kinase (ERK/MAPK) pathway in the brain is hypothesized to be a critical convergent node in the development of autism spectrum disorder. We reasoned that selectively targeting this pathway could reverse core autism-like phenotype in animal models. METHODS: Here we tested a clinically relevant, selective inhibitor of ERK pathway, PD325901 (Mirdametinib), in a mouse model of idiopathic autism, the BTBR mice. FINDINGS: We report that treating juvenile mice with PD325901 reduced ERK pathway activation, dose and duration-dependently reduced core disease-modeling deficits in sociability, vocalization and repetitive behavior, and reversed abnormal EEG signals. Further analysis revealed that subchronic treatment did not affect weight gain, locomotion, or neuronal density in the brain. Parallel treatment in the C57BL/6J mice did not alter their phenotype. INTERPRETATION: Our data indicate that selectively inhibiting ERK pathway using PD325901 is beneficial in the BTBR model, thus further support the notion that ERK pathway is critically involved in the pathophysiology of autism. These results suggest that a similar approach could be applied to animal models of syndromic autism with dysregulated ERK signaling, to further test selectively targeting ERK pathway as a new approach for treating autism. FUNDING: This has beenwork was supported by Alberta Children’s Hospital Research Foundation (JMR & NC), University of Calgary Faculty of Veterinary Medicine (NC), Kids Brain Health Network (NC), and Natural Sciences and Engineering Research Council of Canada (NC).

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15. O’Nions E, Petersen I, Buckman JEJ, Charlton R, Cooper C, Corbett A, Happé F, Manthorpe J, Richards M, Saunders R, Zanker C, Mandy W, Stott J. Autism in England: assessing underdiagnosis in a population-based cohort study of prospectively collected primary care data. The Lancet regional health Europe. 2023; 29: 100626.

BACKGROUND: Autism has long been viewed as a paediatric condition, meaning that many autistic adults missed out on a diagnosis as children when autism was little known. We estimated numbers of diagnosed and undiagnosed autistic people in England, and examined how diagnostic rates differed by socio-demographic factors. METHODS: This population-based cohort study of prospectively collected primary care data from IQVIA Medical Research Data (IMRD) compared the prevalence of diagnosed autism to community prevalence to estimate underdiagnosis. 602,433 individuals registered at an English primary care practice in 2018 and 5,586,100 individuals registered between 2000 and 2018 were included. FINDINGS: Rates of diagnosed autism in children/young people were much higher than in adults/older adults. As of 2018, 2.94% of 10- to 14-year-olds had a diagnosis (1 in 34), vs. 0.02% aged 70+ (1 in 6000). Exploratory projections based on these data suggest that, as of 2018, 463,500 people (0.82% of the English population) may have been diagnosed autistic, and between 435,700 and 1,197,300 may be autistic and undiagnosed (59-72% of autistic people, 0.77%-2.12% of the English population). Age-related inequalities were also evident in new diagnoses (incidence): c.1 in 250 5- to 9-year-olds had a newly-recorded autism diagnosis in 2018, vs. c.1 in 4000 20- to 49-year-olds, and c.1 in 18,000 people aged 50+. INTERPRETATION: Substantial age-related differences in the proportions of people diagnosed suggest an urgent need to improve access to adult autism diagnostic services. FUNDING: Dunhill Medical Trust, Economic and Social Research Council, Medical Research Council, National Institute for Health Research, the Wellcome Trust, and the Royal College of Psychiatrists.

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16. Phillips AQ, Campi E, Talbott MR, Baranek GT. Assessment Fidelity of Parents Implementing a Standardized Telehealth Infant Autism Screener. OTJR : occupation, participation and health. 2023: 15394492231164943.

Telehealth is effective for service delivery in pediatric occupational therapy across ages and diagnoses. Remote parent coaching provides unique benefits for both parents and infants. As a result of COVID-19, practitioners and researchers pivoted to remote assessment and intervention without much preparation or training. It is critical that we evaluate the quality of these telehealth services. One important component of remote evaluations is assessment fidelity. To examine assessment fidelity of a telehealth-delivered observational autism screening tool for infants. An assessment fidelity checklist was applied as the primary outcome measure. Parents conducted assessments with 82% adherence to the fidelity checklist. Implications: A parent coaching telehealth approach may be valid for assessment in pediatric telehealth. Continually monitoring the assessment fidelity of a tool is critical for the valid administration of remote services.

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17. Pizzolorusso F, Paparella MT, Pizzolorusso I, Masino F, Guglielmi G. Magnetic Resonance Imaging in Autism Spectrum Disorders: clinical and neuroradiological phenotypes. Acta bio-medica : Atenei Parmensis. 2023; 94(2): e2023027.

BACKGROUND AND AIM: Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders that can severely compromise social and cognitive functions in childhood. Magnetic Resonance Imaging (MRI) currently represents the gold standard as an in vivo and non-invasive study of the human brain morphology. This work aims to search for possible links between clinical phenotypes and radiological anomalies that may be relevant and pathognomonic in the subsequent diagnosis of ASDs. METHODS: This is a retrospective study in which 132 patients (112 males and 20 females) with neurodevelopment disorders, including ASDs, were enrolled. The population study was divided into three groups considering their own pathological diagnosis. All patients included in this population underwent genetic screening and one or multiple 1.5T MRI scans were performed to evaluate potential anomalies of the corpus callosum, periventricular white matter, ventricular space, cerebellum, subarachnoid space and thalamus. RESULTS: Univariate analysis showed that the presence of MRI brain abnormalities was a significant variable in predicting the presence of ASDs. Increased ventricular volume was one of the most replicated findings in ASDs patients since it was reported to be statistically significant both in uni- and multivariate analysis, resulting even as a potentially predictive factor of diagnosis. CONCLUSIONS: This study can represent a starting point for the research of new radiological evidence that might be important to early diagnose ASDs and for making a differential diagnosis with all those conditions that mimic autistic traits, but which are not clinically connected to the spectrum disorder itself.

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18. Qi A, Wang F, Cao T. Effect of Psychological Counseling Based on Problem Management Plus on Social Anxiety in Parents of Children with Autism Spectrum Disorder. Iranian journal of public health. 2023; 52(2): 325-33.

BACKGROUND: Autism spectrum disorder (ASD) is a widespread mental growth disorder. Children with ASD are unlikely to restore the ability of living independent, which definitely brings their parents greater psychological pressure and psychological problems such as social anxiety. Therefore, it is pressing to conduct intervention research on social anxiety and other problems in parents of children with ASD. METHODS: In 2022, Seventy-three parents of children with ASD were enrolled from Beijing Tongkangyuan Children’s Rehabilitation Institute. They were randomly divided into the experiment group (N=36) and the control group (N=37). The experiment group was intervened with psychological counseling based on problem management plus in combination with Tai Chi. The control group did not receive any psychological intervention. Social Anxiety Scale for Children, Parenting Stress Index-Short Form and Social Support Rate Scale were used for measurement before and after the intervention. RESULTS: The experiment group had significantly higher decreases than the control group in the total score in social anxiety and the scores in its two dimensions after intervention (P=0.001). The experiment group had significant decreases in the total score in parenting stress and the scores in parenting distress and dysfunctional parent-child interaction (P=0.001), while there was no change in the control group. The experiment group had significant improvement in social support, which was also significantly higher than that of the control group (P=0.001). CONCLUSION: Psychological counseling based on problem management plus could effectively alleviate social anxiety and parental pressure in parents of children with ASD, improve their social support and play a significant role in enhancing their mental health.

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19. Rasero J, Jimenez-Marin A, Diez I, Toro R, Hasan MT, Cortes JM. The neurogenetics of functional connectivity alterations in Autism: Insights from subtyping in 657 patients. Biological psychiatry. 2023.

BACKGROUND: There is little consensus and controversial evidence on anatomical alterations in the brain of patients with autism spectrum disorder (ASD), due in part to the large heterogeneity present in ASD, which in turn is a major drawback for developing therapies. One strategy to characterize this heterogeneity in ASD is to cluster large-scale functional brain connectivity profiles. METHODS: A subtyping approach based on consensus clustering of functional brain connectivity patterns was applied to a population of N=657 autistic patients with quality-assured neuroimaging data. We then used high-resolution gene transcriptomic data to characterize the molecular mechanism behind each subtype by performing enrichment analysis of the set of genes showing a high spatial similarity with the profiles of functional connectivity alterations between each subtype and the group of typically developing controls (TDC). RESULTS: Two major stable subtypes were found: Subtype 1 exhibited hypo-connectivity (less average connectivity than TDC) and subtype 2, hyper-connectivity. The two subtypes did not differ in structural imaging metrics in any of the analyzed regions (64 cortical and 14 subcortical), nor in any of the behavioral scores (including Intelligence Quotient, ADI and ADOS). Finally, only subtype 2, comprising about 42% of all patients, led to significant enrichments after multiple testing corrections. Notably, the dominant enrichment corresponded to excitation-inhibition (E/I) imbalance, a leading well-known primary mechanism in the pathophysiology of ASD. CONCLUSIONS: Our results support a link between E/I imbalance and functional connectivity alterations, but only in one ASD subtype, overall characterized by brain hyper-connectivity and major alterations in somatomotor and default mode networks.

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20. Tsompanidis A, Hampton S, Aydin E, Allison C, Holt R, Baron-Cohen S. Mini-puberty testosterone and infant autistic traits. Frontiers in endocrinology. 2023; 14: 1126023.

BACKGROUND: Levels of steroid hormones in the first three months of life, a period referred to as ‘mini-puberty’, are one of the earliest physiological differences between typical males and females postnatally. Autistic traits also show consistent typical sex differences in later infancy, after the 18(th) month of life. Previous studies have shown prenatal testosterone is associated with later levels of autistic traits. Studies testing if postnatal testosterone levels are associated with autistic traits have reported null results. No studies to date have investigated mini-puberty longitudinally or tested for interactions with baseline sex differences or familial likelihood of autism. METHODS: The ‘Cambridge Human Imaging and Longitudinal Development Study’ (CHILD) is a prospective enriched cohort study in Cambridge, UK. It includes physiological measurements in early infancy, as well as neurodevelopmental follow-ups over the first two years of life. A subset of the cohort also includes children with a family history of autism (a diagnosed parent or sibling). Salivary testosterone levels were assessed at two time-points, just after the 2(nd) and 6(th) month of life. Autistic traits were measured using the Quantitative Checklist of Autism in Toddlers (Q-CHAT) when the children were 18 months of age. RESULTS: Salivary testosterone levels were significantly higher during ‘mini-puberty’ in the 2(nd) and 3(rd) month of life, compared to after the 6(th) month of life, in both males and females. There was no significant sex difference at either time-point. Log-transformed testosterone levels were not associated with autistic traits (Q-CHAT). There was no interaction effect with infant sex, autism family history or baseline testosterone levels after mini-puberty (at >6 months of age). CONCLUSION: Both male and female infants have elevated levels of salivary testosterone during mini-puberty but in this relatively small sample this was not associated with their later autistic traits at 18 months or their family history of autism. This suggests that prenatal rather than postnatal testosterone levels are more relevant for understanding the causes of autism. Future studies should test these relationships in larger samples.

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21. Wang Z, Golos A, Weiss JA, Anaby D. Participation of Children With Autism During COVID-19: The Role of Maternal Participation. OTJR : occupation, participation and health. 2023: 15394492231164939.

BACKGROUND: Little is known about participation during adverse times. OBJECTIVES: This study described participation of children with autism aged 6 to 13 during COVID-19 pandemic and examined the extent to which child factors, mother’s own participation, and environmental barriers/supports explain child participation in home and community. METHOD: A total of 130 mothers completed the Participation and Environment Measure for Children and Youth, the Health Promoting Activities Scale, functional issues checklist, and sociodemographic questionnaire. RESULTS: Children’s participation frequency and involvement were significantly higher at home than in the community. In both settings, mothers desired change in 71% of activities. Multiple regression models indicated that child’s age and mother’s participation frequency significantly explained child’s home involvement (R(2) = 21%), where mother’s participation (frequency) had a unique contribution (ΔR(2) = 10.4%) at home but not in the community. CONCLUSION: Findings imply the importance of maternal participation to child’s participation at home and suggest redirecting attention for enhancing family participation as a whole.

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22. Wright FV, Wright A, Bauve C, Evans K. Getting into the game: evaluation of the reliability, validity and utility of the Ignite Challenge scale for school-aged children with autism spectrum disorder. Disability and rehabilitation. 2023: 1-17.

PURPOSE: Evaluate reliability, concurrent validity and utility of the Ignite Challenge motor skills measure for children with autism spectrum disorder (ASD). MATERIALS/METHODS: In this measurement study, children completed the Ignite Challenge twice, 1-3 weeks apart. A physiotherapist assessor (one of seven) conducted a child’s test-retest assessments and scored administration ease and child engagement (/10 visual analogue scale). A second assessor rated baseline assessment videos. Validity data (parent-report PEDI-CAT) were collected at baseline. Reliability analysis employed ICCs (95% CI) and evaluated minimum detectable change (MDC(80)). Pearson’s correlations (r) estimated validity. RESULTS: Forty-seven children with ASD (mean 9.34 years [SD = 2.35]; 10 girls; independent social communication) were tested at baseline; 45 were retested. Ignite Challenge baseline and retest mean scores were 69.0% (SD = 17.1) and 69.5% (SD = 16.6) respectively, with excellent inter-rater/test-retest reliability (ICC = 0.96 [95% CI 0.92, 0.97] and ICC = 0.91 [95% CI 0.84, 0.95]) respectively, and MDC(80) = 9.28. Administration ease and child engagement were 6.5/10 (SD = 2.4) and 6.7/10 (SD = 2.2). Ignite Challenge and PEDI-CAT Social/Mobility (n = 45) associations were r = 0.54 and 0.57. Minimal suggestions for measure revisions arose from child/assessor feedback. CONCLUSIONS: Ignite Challenge can reliably identify movement strengths and challenges of children with ASD. Use may permit more appropriate evaluation and goal setting within physical activity-based programs.IMPLICATIONS FOR REHABILITATIONIgnite Challenge is a reliable and valid advanced motor skills measure for children with Autism Spectrum Disorder (ASD), ages 6 years and up.Ignite Challenge can be reliably scored in-person (« live ») even with younger children and those requiring increased assessor attention to optimize engagement.Most children enjoyed playing the Ignite Challenge « mini games »-this positive engagement (« getting into the game ») helps support assessment of their best motor performance abilities.Ignite Challenge identifies motor-related challenges that impact a child’s physical activity participation, and thus informs meaningful goal setting/intervention with children with ASD.

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23. Yin W, Norrbäck M, Levine SZ, Rivera N, Buxbaum JD, Zhu H, Yip B, Reichenberg A, Askling J, Sandin S. Maternal rheumatoid arthritis and risk of autism in the offspring. Psychological medicine. 2023: 1-9.

BACKGROUND: Maternal Rheumatoid Arthritis (RA) is suggested to increase the risk of Autism Spectrum Disorder (ASD) in the offspring, mainly through inflammation/autoimmunity, but the association is unclear. A prospective population-based cohort study was implemented to examine the association between maternal RA and offspring ASD. METHODS: We included all children born alive in Sweden from 1995 to 2015, followed up through 2017. Diagnoses of ASD and RA were clinically ascertained from National Patient Register. We quantified the association by hazard ratios (HR) and two-sided 95% confidence intervals (CI), from Cox regression after detailed adjustment for potential confounders. We examined RA serostatus, etiological subgroups and the timing of exposure. To closer examine the underlying mechanism for the association, we included a negative control group for RA, arthralgia, with similar symptomology as RA but free from inflammation/autoimmunity. RESULTS: Of 3629 children born to mothers with RA, 70 (1.94%) were diagnosed with ASD, compared to 28 892 (1.92%) of 1 503 908 children born to mothers without RA. Maternal RA before delivery was associated with an increased risk of offspring ASD (HR = 1.43, 95% CI 1.11-1.84), especially for seronegative RA (HR = 1.61, 95% CI 1.12-2.30). No similar association was observed for paternal RA, maternal sisters with RA, or RA diagnosed after delivery. Maternal arthralgia displayed as high risks for offspring ASD as did maternal RA (HR = 1.41, 95% CI 1.24-1.60). CONCLUSIONS: In Sweden, maternal RA before delivery was associated with an increased risk of offspring ASD. The comparable association between maternal arthralgia and ASD risk suggests other pathways of risk than autoimmunity/inflammation, acting jointly or independently of RA.

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24. Zhai J, Li X, Zhou Y, Fan L, Xia W, Wang X, Li Y, Hou M, Wang J, Wu L. Correlation and predictive ability of sensory characteristics and social interaction in children with autism spectrum disorder. Frontiers in psychiatry. 2023; 14: 1056051.

BACKGROUND: Individuals with autism spectrum disorder (ASD) often have different social characteristics and particular sensory processing patterns, and these sensory behaviors may affect their social functioning. The objective of our study is to investigate the sensory profiles of children with ASD and their association with social behavior. Specifically, we aim to identify the predictive role of sensory processing in social functioning. METHODS: The Short Sensory Profile (SSP) was utilized to analyze sensory differences between ASD children and their peers. The Social Responsiveness Scale (SRS) and other clinical scales were employed to assess the social functioning of children with ASD. Additionally, the predictive ability of sensory perception on social performance was discussed using random forest and support vector machine (SVM) models. RESULTS: The SSP scores of ASD children were lower than those of the control group, and there was a significant negative correlation between SSP scores and clinical scale scores (P < 0.05). The random forest and SVM models, using all the features, showed higher sensitivity, while the random forest model with 7-feature factors had the highest specificity. The area under the receiver operating characteristic (ROC) curve (AUC) for all the models was higher than 0.8. CONCLUSION: Autistic children in our study have different patterns of sensory processing than their peers, which are significantly related to their patterns of social functioning. Sensory features can serve as a good predictor of social functioning in individuals with ASD.

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