1. Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment. Ont Health Technol Assess Ser;2023;23(4):1-398.

BACKGROUND: We conducted a health technology assessment to evaluate the safety, effectiveness, and cost-effectiveness of carrier screening programs for cystic fibrosis (CF), fragile X syndrome (FXS), hemoglobinopathies and thalassemia, and spinal muscular atrophy (SMA) in people who are considering a pregnancy or who are pregnant. We also evaluated the budget impact of publicly funding carrier screening programs, and patient preferences and values. METHODS: We performed a systematic literature search of the clinical evidence. We assessed the risk of bias of each included study using the Cochrane Risk of Bias tool and the Risk of Bias Assessment tool for Non-randomized Studies (RoBANS), and the quality of the body of evidence according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. We performed a systematic economic literature search and conducted cost-effectiveness analyses comparing preconception or prenatal carrier screening programs to no screening. We considered four carrier screening strategies: 1) universal screening with standard panels; 2) universal screening with a hypothetical expanded panel; 3) risk-based screening with standard panels; and 4) risk-based screening with a hypothetical expanded panel. We also estimated the 5-year budget impact of publicly funding preconception or prenatal carrier screening programs for the given conditions in Ontario. To contextualize the potential value of carrier screening, we spoke with 22 people who had sought out carrier screening. RESULTS: We included 107 studies in the clinical evidence review. Carrier screening for CF, hemoglobinopathies and thalassemia, FXS, and SMA likely results in the identification of couples with an increased chance of having an affected pregnancy (GRADE: Moderate). Screening likely impacts reproductive decision-making (GRADE: Moderate) and may result in lower anxiety among pregnant people, although the evidence is uncertain (GRADE: Very low).We included 21 studies in the economic evidence review, but none of the study findings were directly applicable to the Ontario context. Our cost-effectiveness analyses showed that in the short term, preconception or prenatal carrier screening programs identified more at-risk pregnancies (i.e., couples that tested positive) and provided more reproductive choice options compared with no screening, but were associated with higher costs. While all screening strategies had similar values for health outcomes, when comparing all strategies together, universal screening with standard panels was the most cost-effective strategy for both preconception and prenatal periods. The incremental cost-effectiveness ratios (ICERs) of universal screening with standard panels compared with no screening in the preconception period were $29,106 per additional at-risk pregnancy detected and $367,731 per affected birth averted; the corresponding ICERs in the prenatal period were about $29,759 per additional at-risk pregnancy detected and $431,807 per affected birth averted.We estimated that publicly funding a universal carrier screening program in the preconception period over the next 5 years would require between $208 million and $491 million. Publicly funding a risk-based screening program in the preconception period over the next 5 years would require between $1.3 million and $2.7 million. Publicly funding a universal carrier screening program in the prenatal period over the next 5 years would require between $128 million and $305 million. Publicly funding a risk-based screening program in the prenatal period over the next 5 years would require between $0.8 million and $1.7 million. Accounting for treatment costs of the screened health conditions resulted in a decrease in the budget impact of universally provided carrier screening programs or cost savings for risk-based programs.Participants value the perceived potential positive impact of carrier screening programs such as medical benefits from early detection and treatment, information for reproductive decision-making, and the social benefit of awareness and preparation. There was a strong preference expressed for thorough, timely, unbiased information to allow for informed reproductive decision-making. CONCLUSIONS: Carrier screening for CF, FXS, hemoglobinopathies and thalassemia, and SMA is effective at identifying at-risk couples, and test results may impact preconception and reproductive decision-making.The cost-effectiveness and budget impact of carrier screening programs are uncertain for Ontario. Over the short term, carrier screening programs are associated with higher costs, and also higher chances of detecting at-risk pregnancies compared with no screening. The 5-year budget impact of publicly funding universal carrier screening programs is larger than that of risk-based programs. However, accounting for treatment costs of the screened health conditions results in a decrease in the total additional costs for universal carrier screening programs or in cost savings for risk-based programs.The people we spoke with who had sought out carrier screening valued the potential medical benefits of early detection and treatment, particularly the support and preparation for having a child with a potential genetic condition.

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2. Apeksha K, Hanasoge S, Jain P, Babu SS. Speech Perception in Quiet and in the Presence of Noise in Children with Autism Spectrum Disorder: A Behavioral Study. Indian J Otolaryngol Head Neck Surg;2023 (Sep);75(3):1707-1711.

Signal-to-noise ratio (SNR) is one of the important parameters to be considered for the effective perception of speech. Many researchers indicate that children with autism spectrum disorder (ASD) have reduced capacity to integrate sensory information across different modalities and show speech understanding difficulty in the presence of background speech or noise. So, this present study was undertaken with the aimed to evaluate and compare the speech perception ability in quiet and in the presence of noise for children with and without ASD and also to compare across different noise conditions. Speech perception in noise was measured for 15 children with ASD and 15 age-matched children without ASD in the age range of 8 to 12 years. The stimulus includes standardized bisyllabic and trisyllabic Kannada words in quiet and at different SNR conditions. The result showed that children with ASD had poor performance in all the listening conditions (quiet, speech babble, and speech noise) and the syllable conditions (bisyllables and trisyllables) compared to children without ASD. When compared across quiet and different SNR conditions for individuals with ASD, the result showed the best performance in quiet conditions followed by different SNR conditions. The performance deteriorated with a decrease in SNR for both groups. Children with ASD showed poor performance in quiet and in the presence of noise compared to children without ASD. Speech perception evaluation in the presence of noise provides a more reliable predictor of the communication difficulty faced by children with ASD than evaluating only in quiet conditions.

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3. Arai T, Kamagata K, Uchida W, Andica C, Takabayashi K, Saito Y, Tuerxun R, Mahemuti Z, Morita Y, Irie R, Kirino E, Aoki S. Reduced neurite density index in the prefrontal cortex of adults with autism assessed using neurite orientation dispersion and density imaging. Front Neurol;2023;14:1110883.

BACKGROUND: Core symptoms of autism-spectrum disorder (ASD) have been associated with prefrontal cortex abnormalities. However, the mechanisms behind the observation remain incomplete, partially due to the challenges of modeling complex gray matter (GM) structures. This study aimed to identify GM microstructural alterations in adults with ASD using neurite orientation dispersion and density imaging (NODDI) and voxel-wise GM-based spatial statistics (GBSS) to reduce the partial volume effects from the white matter and cerebrospinal fluid. MATERIALS AND METHODS: A total of 48 right-handed participants were included, of which 22 had ASD (17 men; mean age, 34.42 ± 8.27 years) and 26 were typically developing (TD) individuals (14 men; mean age, 32.57 ± 9.62 years). The metrics of NODDI (neurite density index [NDI], orientation dispersion index [ODI], and isotropic volume fraction [ISOVF]) were compared between groups using GBSS. Diffusion tensor imaging (DTI) metrics and surface-based cortical thickness were also compared. The associations between magnetic resonance imaging-based measures and ASD-related scores, including ASD-spectrum quotient, empathizing quotient, and systemizing quotient were also assessed in the region of interest (ROI) analysis. RESULTS: After controlling for age, sex, and intracranial volume, GBSS demonstrated significantly lower NDI in the ASD group than in the TD group in the left prefrontal cortex (caudal middle frontal, lateral orbitofrontal, pars orbitalis, pars triangularis, rostral middle frontal, and superior frontal region). In the ROI analysis of individuals with ASD, a significantly positive correlation was observed between the NDI in the left rostral middle frontal, superior frontal, and left frontal pole and empathizing quotient score. No significant between-group differences were observed in all DTI metrics, other NODDI (i.e., ODI and ISOVF) metrics, and cortical thickness. CONCLUSION: GBSS analysis was used to demonstrate the ability of NODDI metrics to detect GM microstructural alterations in adults with ASD, while no changes were detected using DTI and cortical thickness evaluation. Specifically, we observed a reduced neurite density index in the left prefrontal cortices associated with reduced empathic abilities.

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4. Benevides T, Watling R, Robertson SM. Person-Centered Interventions for Autistic Adolescents Ages 13-19 Years (2013-2021). Am J Occup Ther;2023 (Mar 1);77(Suppl 1)

Systematic review briefs provide a summary of findings from systematic reviews developed in conjunction with the Evidence-Based Practice Program of the American Occupational Therapy Association. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. This systematic review brief presents findings from a systematic review of family- and person-centered planning interventions for autistic1 adolescents aged 13-19 yr gathered from literature published between 2013 and 2021.

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5. Chezan LC, Liu J, Gao R, Drasgow E. Investigating the quality of life for children with autism spectrum disorder scale using Rasch methodology. Autism Res;2023 (Aug 28)

Our purpose in this study was to provide additional psychometric evidence of the Quality of Life for Children with Autism Spectrum Disorder (QOLASD-C) scale. We used Rasch modeling to investigate the QOLASD-C functioning, the characteristics of the items comprising the scale, and the item functioning across subgroups of children with ASD based on gender and race/ethnicity. Results showed that QOLASD-C was unidimensional, met the local independence assumption, and measured quality of life (QOL). The items showed excellent fit to the model and good discriminating ability between low and high QOL. Most items showed a moderate difficulty level. No differential item functioning was observed based on children’s gender and race/ethnicity. Implications for research and practice are discussed.

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6. Deng S, Feng X, Yang M, Yu W, Wu Z, Zhu X, Song Z, Cheng S. LAMP1 as a novel molecular biomarker to predict the prognosis of the children with autism spectrum disorder using bioinformatics approaches. Sci Rep;2023 (Aug 28);13(1):14040.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that usually manifests in childhood and is thought to be caused by a complex interaction of genetic, environmental, and immune factors. The majority of current ASD diagnostic methods rely on subjective behavioral observation and scale assessment, making early detection difficult. In this study, we confirmed that lysosomal-associated membrane protein 1 (LAMP1), a functional marker of immune cell activation and cytotoxic degranulation, was upregulated in ASD blood, brain cortex, and various genetic animal models or cells using bioinformatics approaches. The prognostic value of LAMP1 was investigated by correlating its expression with clinical ASD rating scales, and the receiver operating characteristic (ROC) curve analysis in ASD also revealed that it has a favorable diagnostic ability in distinguishing ASD from control cohort. According to gene set enrichment analysis (GSEA) results, LAMP1 correlated with genes that were enriched in natural kill and T cell immune function. Taking all of the evidence into account, we discovered that abnormal elevations of LAMP1 mRNA and protein in the blood of ASD children, may influence the development of ASD through its involvement in immune cell activity regulation. This report highlights a novel marker for ASD early detection as well as potential therapeutic targets.

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7. Finn CE, Han GT, Naples AJ, Wolf JM, McPartland JC. Development of peak alpha frequency reflects a distinct trajectory of neural maturation in autistic children. Autism Res;2023 (Aug 28)

Electroencephalographic peak alpha frequency (PAF) is a marker of neural maturation that increases with age throughout childhood. Distinct maturation of PAF is observed in children with autism spectrum disorder such that PAF does not increase with age and is instead positively associated with cognitive ability. The current study clarifies and extends previous findings by characterizing the effects of age and cognitive ability on PAF between diagnostic groups in a sample of children and adolescents with and without autism spectrum disorder. Resting EEG data and behavioral measures were collected from 45 autistic children and 34 neurotypical controls aged 8 to 18 years. Utilizing generalized additive models to account for nonlinear relations, we examined differences in the joint effect of age and nonverbal IQ by diagnosis as well as bivariate relations between age, nonverbal IQ, and PAF across diagnostic groups. Age was positively associated with PAF among neurotypical children but not among autistic children. In contrast, nonverbal IQ but not age was positively associated with PAF among autistic children. Models accounting for nonlinear relations revealed different developmental trajectories as a function of age and cognitive ability based on diagnostic status. Results align with prior evidence indicating that typical age-related increases in PAF are absent in autistic children and that PAF instead increases with cognitive ability in these children. Findings suggest the potential of PAF to index distinct trajectories of neural maturation in autistic children.

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8. Fox KE, Maribona AS, Quintero J, Lange C, Semidey K. Addressing Health Inequities in the United States: A Case Report on Autism Spectrum Disorder (ASD) and Social Determinants of Health. Cureus;2023 (Jul);15(7):e42539.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that presents with delays in developmental milestones, social impairment, and behavioral difficulties. Treatment relies upon an intensive individualized multidisciplinary medical and therapeutic approach. This case presents a child affected by ASD and other associated conditions, whose care was significantly limited by the effects of social determinants of health, including lack of transportation, housing instability, low income, and most importantly, lack of health insurance. Without universal health coverage, the US healthcare system requires that patients have insurance or pay out-of-pocket to access medical care. It is vital that healthcare providers are able to recognize and address these barriers in order to help pediatric patients and their families navigate a difficult and often inequitable healthcare system. It is also crucial to emphasize the importance of healthcare providers, policymakers, and advocacy organizations to work together to address the systemic barriers that limit access to quality care for children with ASD.

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9. Ghahreman Y, Hosseini SA, Hassani S, Derakhshanpour F, Hassani MJ, Hosseini P. An Investigation on Cognitive and Behavioral Effects of Donepezil on Autistic Children in Winter 2020 in Gorgan’s Taleghani Pediatric Hospital. Iran J Child Neurol;2023 (Summer);17(3):55-67.

OBJECTIVES: The present investigation has been done to study the behavioral effects of donepezil in autistic children, given that not much research has been carried out concerning using this drug for treating autism. MATERIALS & METHODS: A cross-sectional and analytic-descriptive study was done on twenty patients with autism, aged 4-17, who visited the neurology clinic of Gorgan’s Taleghani Pediatric Hospital and Yasha Pediatric Autism Clinic, Iran from 2019 to 2020. Demographic information, including sex, age, father’s education, mother’s education ,patient’s education, family status, other problems, and ethnicity, were documented using a checklist, having been filled in during interviews with the parents. Before the trial, ABC cognitive and behavioral tests were taken to determine the children’s current status. After the tests, these children received a daily dose of donepezil (10mg) before sleep for three months. At the end of the three months, the cognitive and behavioral tests were taken from the children once again. In order to analyze the effects of different factors on the studied variables, including irritability, lethargy, stereotypic behavior, hyperactivity, and inappropriate speech before and after the administration of donepezil in patients, a generalized linear model and to test the effects of donepezil on the studied variables, paired t-test was used. RESULTS: In this study, twenty patients were registered for the investigation, 12 (60%) male and eight (40%) female. Age groups 5-6 had the highest frequency, and age group 17 had the lowest. Regardingthe parents’ education, the highest frequency was for bachelor’s degrees, and the lowest was for less-than-high school education and master’s degree. The highest frequency for the patients’ education was kindergarten (60%), and then groups without education (20%) and elementary school-level education (15%). Most of the studied patients (80%) did not have other problems besides autism, and only 20% had other problems besides autism. The family status of 15% of the families was ‘separated,’ and ethnically, most patients (80%) were Fars, while the rest (20%) were Turkmen. None of the analyzed factors (age, sex, father’s education, mother’s education, patient’s education, other problems, family status, and ethnicity) had a significant effect on the studied variables after the administration of donepezil. Among the studied variables prior to the administration of donepezil and among the analyzed factors, the father’s education, the patient’s education, other problems, and family status had only a significant effect on stereotypic behavior. The present research findings of the present research indicated that all the studied variables, including irritability, lethargy, stereotypic behavior, hyperactivity, and inappropriate speech, were significantly decreased toward the desired goal. The decreased amounts in irritability, lethargy, stereotypic behavior, hyperactivity, and inappropriate speech after the administration of donepezil were, respectively, 38%, 44%, 54%, 41%, and 54% and on average, these behaviors were reduced by 46%. CONCLUSION: The present investigation has shown that all the studied variables, including irritability, lethargy, stereotypic behavior, hyperactivity, and inappropriate speech, were significantly decreased towards the desired goal by 46%. This significant decrease is indicative of the effectiveness of the treatment of autism patients with donepezil, and therefore, this drug can be placed as a prominent and essential part of the medical therapy of autism.

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10. Hou YZ, Shu YP, Wang XM, Zhang Q. Fainting takes the spotlight: A rare case report of Asperger’s syndrome comorbid with major depressive disorder. Asian J Surg;2023 (Aug 25)

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11. Kimi S, Maiti R, Srinivasan A, Mishra BR, Hota D. Efficacy and safety of V(1a) receptor antagonists in autism spectrum disorder: A meta-analysis. Int J Dev Neurosci;2023 (Aug 28)

This meta-analysis has evaluated the efficacy and safety of V(1a) receptor antagonists in ASD compared to placebo. The reviewers extracted data from four relevant clinical trials after a literature search on databases and clinical trial registries. Quality assessment was done using the risk of bias assessment tool, and the random-effects model was used to estimate effect size. Subgroup analysis, meta-regression and sensitivity analysis were done. PRISMA guidelines were followed in the selection, analysis and reporting of findings. V(1a) receptor antagonists did not reduce Vineland II Adaptive behaviour composite score significantly (SMD: 0.14; 95% CI: -0.06-0.35; p = 0.16; PI: -0.44-0.73), communication domain subscale score and socialization domain subscale score. The change in daily living skills domain subscale score was significant and favourable for V(1a) receptor antagonists (SMD: 0.15; 95% CI: 0.03-0.26; p = 0.01). The subgroup analysis revealed a significant improvement in Vineland II Adaptive behaviour composite score with doses <10 mg (SMD: 0.45; 95% CI: 0.11-0.78; p = 0.009). Meta-regression does not show a significant association between SMD of ASD symptom score reduction with the duration and dose of V(1a) receptor antagonist therapy. Treatment-emergent adverse effects were not serious and dose dependent. Low doses (<10 mg) of V(1a) receptor antagonist may be effective in reducing the core symptoms of ASD compared to placebo; however, future active-controlled clinical trials are necessary to generate conclusive evidence.

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12. Lee WW, Kim BK, Lee JJ, Kang K. A Case of Fragile-X-Associated Tremor/Ataxia Syndrome Without Tremor. J Clin Neurol;2023 (Sep);19(5):498-500.

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13. McFayden TC, Putnam O, Grzadzinski R, Harrop C. Sex Differences in the Developmental Trajectories of Autism Spectrum Disorder. Curr Dev Disord Rep;2023 (Mar);10(1):80-91.

PURPOSE OF REVIEW: Females and males are disproportionately diagnosed with autism, a sex difference that has historically represented this neurodevelopmental condition. The current review examines lifespan developmental trajectories of autism based on sex to elucidate behavioral phenotypic differences that may contribute to differential rates of diagnosis. RECENT FINDINGS: We review sex differences in diagnostic criteria: social communication and restricted interests/repetitive behaviors (RRBs). Results suggest RRBs are more indicative of a diagnosis in males, whereas social differences are more indicative of a diagnosis in females. Factors contributing to a later diagnosis in females include social strengths (camouflaging) and diagnostic overshadowing. SUMMARY: Sex differences in diagnostic criteria may contribute to differential rates of identification in males and females. Sex differences are most pronounced when assessing naturalistic social communication instead of reliance on standardized measure. Numerous future directions are identified including increasing samples of sub-threshold autistic females and evaluating longitudinal sex differences.

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14. Percy AK, Neul JL, Benke TA, Marsh ED, Glaze DG. A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome. Front Pediatr;2023;11:1229553.

The Rett Syndrome Behaviour Questionnaire (RSBQ), which is completed by the caregiver, is one of the most widely used efficacy measures in clinical studies of Rett syndrome (RTT) due to its specificity to the core features of RTT. As healthcare providers participate in routine healthcare assessments of individuals with RTT in clinical practice, there is a need for these providers to understand the psychometric properties of the RSBQ and how it relates to the core clinical features of RTT. Here, we describe the characteristics of the RSBQ, review the literature on its validity and reliability as well as its performance in a phase 2 study and the recent phase 3 LAVENDER study. The RSBQ was first shown to discriminate RTT from other intellectual disorders with good inter-rater and test-retest reliability scores. It was subsequently validated as an appropriate instrument for measuring behavior in females with RTT and adopted as a clinical trial outcome. In LAVENDER, the FDA-approved drug trofinetide significantly improved the RSBQ total score over placebo in girls and women with RTT and change from baseline for all RSBQ subscores were directionally in favor of trofinetide. The change in RSBQ was aligned with the Clinical Global Impression-Improvement scale, suggesting that improvement in behavioral components may be related to overall clinical status. Given its validity and ubiquity in RTT clinical studies, it is important that the interplay of the domains and the psychometric profile of the RSBQ are understood.

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15. Sakka S. Rob’Autism Project: Social Learning at the Center of the Therapy. Stud Health Technol Inform;2023 (Aug 23);306:340-347.

Rob’Autism project was started in 2014, it aims at setting a therapy support for ASD (Autistic Spectrum Disorder) teenagers based on robot, art and culture mediations. The objective of the therapy support is to improve social skills. At its center is the improvement of the capacity to build and destroy affective links with the environment, or generate and drop communication relation with the external world. Three points were addressed to restore social links management: individual, collective and social communication. The experiments were organized in 20 working sessions of 1 hour per week and involved 6 teenagers, 3 robots and 6 accompanying people. During the sessions, a repetitive scenario is performed proposing a fixed frame in which controlled events can occur, in such way that the subjects environment remains simplified. During the 20 sessions, the subjects are supervised to build a show, which is presented to an external public. Up to now, eight groups were studied (48 subjects in total by groups of 6). The results show a redefinition of the subjects’ identity and their legitimacy as members of the society.

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16. Siddiqi UR, Begum S, Shahjadi S, Afroz S, Mahruba SN, Parvin J, Rahman MM. Plasma zinc, copper and serum ceruloplasmin levels of autism spectrum disorder children in Bangladesh. Heliyon;2023 (Aug);9(8):e18624.

Neural and cognitive processes require zinc and copper homeostasis and a normal zinc/copper ratio. Ceruloplasmin, an intrinsic antioxidant protein, maintains copper homeostasis, which might also influence autism spectrum disorder (ASD). ASD children are frequently reported with altered levels of these elements with wide geographical variations. This study evaluated any alteration in plasma zinc, copper, zinc/copper ratio and serum ceruloplasmin levels in Bangladeshi ASD children with respect to healthy controls. A cross-sectional study was conducted on 67 children aged 2 to 9 years of both sexes. Among them, 35 had ASD, while 32 were age, sex and body mass index (BMI) matched apparently healthy children. Plasma zinc and copper levels were estimated by the flame atomic absorption spectrophotometry method. Serum ceruloplasmin levels were estimated by the immunoturbidimetric method. Zinc and zinc/copper ratio in the 2-9 years old ASD children group were significantly lower (p=0.032 and p=0.002 respectively). On the other hand, copper (p=0.020) and ceruloplasmin (p = 0.045) levels were significantly higher than those of apparently healthy children. ASD was significantly associated with zinc deficiency (p=0.000) and copper toxicity (p=0.05). All children were again divided into 2-5 and 6-9 years age groups according to laboratory reference values for zinc and copper. Copper toxicity was significantly associated with ASD in the 2-5 years old age group (p=0.011), with a significant difference in plasma copper levels (p=0.009) and zinc/copper ratio (p=0.001) but not serum ceruloplasmin levels (p=0.110) compared to healthy controls. Serum ceruloplasmin was positively associated with plasma copper in ASD children of all age groups. This study shows that ASD in Bangladesh can be associated with low plasma zinc and high plasma copper and serum ceruloplasmin levels.

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17. Suzuki N, Hirai M. Autistic traits associated with dichotomic thinking mediated by intolerance of uncertainty. Sci Rep;2023 (Aug 28);13(1):14049.

A recent cognitive model suggests that autistic individuals may experience dichotomous thinking patterns mediated by intolerance of uncertainty; however, empirical evidence to support this model is lacking. This study aimed to identify the relationships between autistic traits, intolerance of uncertainty, and dichotomous thinking using the Autism Spectrum Quotient, Short Intolerance of Uncertainty Scale, and the Dichotomous Thinking Inventory. We collected data from non-clinical university students (N = 151; pilot study) and general adults (N = 500; main study) and analyzed the results using structural equation modeling. Both studies showed a significant indirect effect of autistic traits on dichotomous thinking mediated by intolerance of uncertainty. Moreover, the results indicated that intolerance of uncertainty was significantly and positively associated with Autism Spectrum Quotient and Dichotomous Thinking Inventory scores. Conversely, there was a significant negative direct association between Autism Spectrum Quotient and Dichotomous Thinking Inventory scores. This is the first study to demonstrate that autistic traits can result in dichotomous thinking through intolerance of uncertainty. These findings provide insight into the cognitive patterns of autistic individuals.

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18. Taipale J. Caught on the surface: Tustin on autistic experience. Front Psychol;2023;14:1243310.

According to Frances Tustin, the core of autism is found in sensory modifications-and tactile modifications in particular. Tustin argues that sensory experiences may become self-absorbed to such an extent that the sensory environment experientially flattens into a two-dimensional « feel, » which complicates the individual’s relations with the external environment and other people. Focusing on these fundamental modifications and their experiential consequences, the article introduces Tustin’s main insight in terms of collapse of intentional depth, suggesting that this collapse concerns not only concrete spatial depth, but symbolic and intersubjective depth as well. By so doing, the article illustrates how Tustin’s ideas render intelligible certain commonly recognized features of autism, such as « deficits in the ability to initiate and to sustain reciprocal social interaction and social communication » and « restricted, repetitive, and inflexible patterns of behavior, interests or activities » (ICD-11).

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19. Tsunoda K, Nagase K, Fujita K. Association of physical activity with psychological distress and happiness in mothers of children with autism spectrum disorders during the COVID-19 pandemic. BMC Womens Health;2023 (Aug 27);23(1):450.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic may have severely impacted the psychological status of mothers of children with autism spectrum disorder (ASD). Although a previous study reported that physical activity (PA) moderated psychological distress in parents of children with ASD during the COVID-19 pandemic, the effect of PA on the happiness levels of such parents during the pandemic remains unclear. This study investigated the associations among PA, psychological distress, and happiness in mothers of children with ASD during the COVID-19 pandemic. METHODS: This cross-sectional study was designed to evaluate mothers of children with disabilities. Questionnaires were collected from mothers living in Yamaguchi and Okayama Prefectures, Japan, between February and December 2022. During this period, three large waves of the COVID-19 pandemic occurred in Japan. Of the 601 respondents, 334 mothers had children with ASD and offered valid data. PA was assessed using the short form of the International Physical Activity Questionnaire. Psychological distress and happiness were assessed using the six-item Kessler Psychological Distress Scale (K6) and the Subjective Happiness Scale (SHS). RESULTS: The mothers had markedly higher K6 scores (6.49) and more than half of them had moderate-to-severe psychological distress, whereas the SHS scores (4.46) were similar to that of the general Japanese population. In a multivariable-adjusted model based on the analysis of covariance, the K6 score was not associated with any PA items. In contrast, SHS scores were positively associated with moderate-intensity PA (MPA) and total moderate- to vigorous-intensity PA (MVPA), independent of K6. In the post-hoc test, mothers who did some (4.52) or enough (≥ 150 min/week) MPA (4.56) had a higher SHS score than those who did not (4.09). Similarly, mothers who engaged in sufficient (≥ 600 MET-min/week) total MVPA had higher SHS scores (4.57) than those who did not engage in MVPA (4.12). CONCLUSIONS: The mothers of children with ASD during the COVID-19 pandemic had markedly higher psychological distress, though none of the PA items were associated with stress levels. However, PA was positively associated with happiness in mothers of children with ASD independent of their stress levels.

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20. Uljarević M, Frazier TW, Chetcuti L. Asperger syndrome and clinical heterogeneity: Reflections on the past, present, and future. Dev Med Child Neurol;2023 (Aug 28)

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21. Vincent C, Bertrand-Ouellet J, Julien-Gauthier F, Dumont FS, Desmarais C, Lecours A, Poulin V, Kiss J, Hu T, Blouin L. Design of Instructional Videos for People with Autism Who Want to Learn About Grocery Store Work: A Community, Business, Educational and Health Partnership. Stud Health Technol Inform;2023 (Aug 23);306:334-339.

To facilitate the integration of people with autism into the food industry labour market, this cross sectoral project aimed to design, validate and test instructional videos to concretely demonstrate various tasks in the grocery store, and to probe interest and assess knowledge about these tasks. Results are the delivery of 21 instructional videos validated for individuals with autism and 21 for mentors in grocery.

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22. Vincent C, Mercure F, Dumont F, Lemieux M, Caouette M, Letscher S, Boucher N, Julien-Gauthier F, Bertrand-Ouellet J. Intersectoral Development of an Evaluation Tool for the Socio-Professional Rehabilitation Process Adapted to People with Autism. Stud Health Technol Inform;2023 (Aug 23);306:311-317.

Since there was no French tool adapted to the reality of people with autism enrolled in a work integration program in Quebec, we have modified the Profile of Rehabilitation and Adaptation in a Work Context for People with Intellectual Disabilities according to the scientific literature on autism. Content validity (n=17) and applicability (n=5) were done with success. Result is an Excel compiler containing 3 informative tabs, 10 tabs on the dimensions of work rehabilitation (59 items) and 4 tabs used to compile the results. Socio-professional practicians are welcomed to use this new tool to pursue construct and internal validity.

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23. Williams ZJ, Schaaf R, Ausderau KK, Baranek GT, Barrett DJ, Cascio CJ, Dumont RL, Eyoh EE, Failla MD, Feldman JI, Foss-Feig JH, Green HL, Green SA, He JL, Kaplan-Kahn EA, Keçeli-Kaysılı B, MacLennan K, Mailloux Z, Marco EJ, Mash LE, McKernan EP, Molholm S, Mostofsky SH, Puts NAJ, Robertson CE, Russo N, Shea N, Sideris J, Sutcliffe JS, Tavassoli T, Wallace MT, Wodka EL, Woynaroski TG. Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium. Mol Autism;2023 (Aug 28);14(1):31.

BACKGROUND: Differences in responding to sensory stimuli, including sensory hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK) have been observed in autistic individuals across sensory modalities, but few studies have examined the structure of these « supra-modal » traits in the autistic population. METHODS: Leveraging a combined sample of 3868 autistic youth drawn from 12 distinct data sources (ages 3-18 years and representing the full range of cognitive ability), the current study used modern psychometric and meta-analytic techniques to interrogate the latent structure and correlates of caregiver-reported HYPER, HYPO, and SEEK within and across sensory modalities. Bifactor statistical indices were used to both evaluate the strength of a « general response pattern » factor for each supra-modal construct and determine the added value of « modality-specific response pattern » scores (e.g., Visual HYPER). Bayesian random-effects integrative data analysis models were used to examine the clinical and demographic correlates of all interpretable HYPER, HYPO, and SEEK (sub)constructs. RESULTS: All modality-specific HYPER subconstructs could be reliably and validly measured, whereas certain modality-specific HYPO and SEEK subconstructs were psychometrically inadequate when measured using existing items. Bifactor analyses supported the validity of a supra-modal HYPER construct (ω(H) = .800) but not a supra-modal HYPO construct (ω(H) = .653), and supra-modal SEEK models suggested a more limited version of the construct that excluded some sensory modalities (ω(H) = .800; 4/7 modalities). Modality-specific subscales demonstrated significant added value for all response patterns. Meta-analytic correlations varied by construct, although sensory features tended to correlate most with other domains of core autism features and co-occurring psychiatric symptoms (with general HYPER and speech HYPO demonstrating the largest numbers of practically significant correlations). LIMITATIONS: Conclusions may not be generalizable beyond the specific pool of items used in the current study, which was limited to caregiver report of observable behaviors and excluded multisensory items that reflect many « real-world » sensory experiences. CONCLUSION: Of the three sensory response patterns, only HYPER demonstrated sufficient evidence for valid interpretation at the supra-modal level, whereas supra-modal HYPO/SEEK constructs demonstrated substantial psychometric limitations. For clinicians and researchers seeking to characterize sensory reactivity in autism, modality-specific response pattern scores may represent viable alternatives that overcome many of these limitations.

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