1. Abbasi J. Mobile Device App Helps Distinguish Toddlers With Autism. Jama. 2021; 325(22): 2243.

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2. Błażewicz A, Niziński P, Dolliver I, Dolliver W, Makarewicz A, Skórzyńska-Dziduszko K. Alterations of urinary perchlorate levels in euthyroid postpubertal children with autism spectrum disorder. Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 2021; 68: 126800.

BACKGROUND: Perchlorates ClO(4)((-)) are known environmental and food contaminants that act as inhibitors of iodine uptake by the thyroid gland; however, information concerning their possible association with the development of autism spectrum disorder (ASD) is still missing. The current study is first presenting the alterations in perchlorate urine levels in euthyroid children with ASD. OBJECTIVES: To examine urinary perchlorates and iodides in euthyroid children diagnosed with ASD, compared to age-, and BMI-matched neurotypical controls, and to verify the association between these two ions in ASD. METHODS: Ions were determined in 24 h urine samples determined by ion chromatography-conductivity cell detection (IC-CD) and ion chromatography-pulsed amperometric detection (IC-PAD) techniques, respectively, in a total of 130 postpubertal euthyroid children with normal BMI (the mean age 14.46 years, SD = 1.32; the mean BMI 20.6, SD = 1.37), divided into age- and BMI-matched groups of ASD patients and neurotypical, healthy children (control). RESULTS: The ASD group presented with significantly higher perchlorate urine levels than the controls (median = 1.05 μg/L, interquartile range(IQR) = 1.5 versus median = 0.09 μg/L, IQR = 0.097, respectively), as well as lower iodide urine levels (median = 100.2 μg/L, IQR = 37 versus median = 156.95 μg/L, IQR = 26.11, respectively). The ASD group presented significantly lower TSH and higher free thyroid hormone (fT4, fT3) levels than the controls. In regression analyses, perchlorate urine levels showed significant positive relationships with normal BMI values and serum TSH, and inverse relationships with serum fT4. Urinary iodide levels showed significant inverse relationships with BMI values. The absence of ASD was associated with decreased odds of perchlorate urine levels (OR = 0.012, 95 % confidence interval [CI] 0.0002-0.76), and increased odds of iodide urine levels (OR = 1.15, 95 %CI 1.05-1.27). CONCLUSIONS: ASD may have an independent and significant impact on perchlorate as well as iodide levels in urine of euthyroid lean postpubertal children. Perchlorate levels do not appear to be directly associated with iodide levels in euthyroid children.

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3. Crehan ET, Althoff RR. Me looking at you, looking at me: The stare-in-the-crowd effect and autism spectrum disorder. Journal of psychiatric research. 2021; 140: 101-9.

INTRODUCTION: The stare-in-the-crowd (SITC) effect describes the ability to detect self-directed gaze in a crowd. Given the importance of gaze detection in initiating and maintaining social interactions, there is a need to better characterize the SITC effect. METHODS: Autistic and neurotypical young adults were presented with four SITC conditions. Eye tracking outcomes and arousal were compared by diagnosis and condition using repeated measures analysis of variance. Hierarchical regression was used to explore behavioral measures. RESULTS: Significant interaction of diagnosis and condition was found for eye tracking outcomes. Overall, autistic participants exhibited less looking than neurotypical participants. Interest area dwell time, fixation count, and second fixation duration were significantly higher for conditions with shifting gaze, as well as conditions with more self-directed gaze across participants. Two hierarchical regression models of gaze behaviors with advanced theory of mind as a predictor were significant. DISCUSSION: Autistic individuals respond to various gaze conditions in similar patterns to neurotypical individuals, but to a lesser extent. These findings offer important targets for social interventions.

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4. Dimachkie Nunnally A, Sterrett K, Gulsrud A, Kasari C. What are the odds? Predicting the likelihood of a negative episode in a sample of toddlers with autism spectrum disorder. Autism : the international journal of research and practice. 2021; 25(8): 2254-64.

Children with autism spectrum disorder sometimes have challenges with regulating their negative emotions. These difficulties can impact children’s social outcomes and how well they respond to intervention. We know that caregivers of children with autism spectrum disorder can help their children regulate negative emotions in a process known as co-regulation, but not much is known about how child and caregiver strategy use impacts children’s negativity in real time. In this study, 71 caregivers of toddlers with autism spectrum disorder were asked to encourage their child to unlock a locked toy box, a task which is designed to elicit frustration. Video observations of the participants completing the task were used to examine whether specific child and caregiver behaviors increased or decreased the likelihood that the child will become upset. No child strategies were predictive of a decreased likelihood of a child becoming upset, but when children used high-energy behaviors that did not serve a purpose, such as running back and forth, they were more likely to then show signs of being upset a few seconds later. The way that caregivers responded to their child was a potent caregiver predictor of the likelihood of children’s negativity, with caregivers’ unresponsiveness and proactiveness both emerging as salient predictor of increased likelihood of the child being upset a few moments later. These findings give insight into how children with autism spectrum disorder and their caregiver navigate challenging and frustrating tasks, and have the potential to influence clinical practice by giving an indication off which parent and child behaviors are most effective in reducing children’s negativity while interacting with parents and caregivers.

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5. Downes N, Geoffray MM, Isnard P, Lemonnier E, Orêve MJ, Cappe E. Dyadic coping and coparenting among couples after their child’s recent autism diagnosis. Autism : the international journal of research and practice. 2022; 26(1): 121-34.

We investigated how couples support each other after their child’s autism diagnosis and whether this affects the way they work together to raise their child. We recruited 70 couples raising a child on the autism spectrum. Both partners were asked to complete the same questionnaires measuring how they perceived the experience of having a child on the autism spectrum, how they used their relationship to support each other during stressful situations, how competent they felt completing their parenting tasks, and the coparenting relationship to explore how they worked together as a team when parenting their child. Parents participated in the study 1-36 months after their child’s autism diagnosis. We used statistical techniques that allowed us to see the impact mothers and fathers had on each other. Overall, parents who felt more competent and supported by their partner worked better as a team to raise their child on the spectrum. Fathers invested in the coparenting relationship more when mothers felt more supported by fathers. Mothers invested in the coparenting relationship more when fathers felt more competent parenting their child. Further research is needed to better understand how we can support couples as their child gets older.

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6. Feldman JI, Conrad JG, Kuang W, Tu A, Liu Y, Simon DM, Wallace MT, Woynaroski TG. Relations Between the McGurk Effect, Social and Communication Skill, and Autistic Features in Children with and without Autism. Journal of autism and developmental disorders. 2022; 52(5): 1920-8.

Children with autism show alterations in multisensory integration that have been theoretically and empirically linked with the core and related features of autism. It is unclear, however, to what extent multisensory integration maps onto features of autism within children with and without autism. This study, thus, evaluates relations between audiovisual integration and core and related autism features across children with and without autism. Thirty-six children reported perceptions of the McGurk illusion during a psychophysical task. Parents reported on participants’ autistic features. Increased report of illusory percepts tended to covary with reduced autistic features and greater communication skill. Some relations, though, were moderated by group. This work suggests that associations between multisensory integration and higher-order skills are present, but in some instances vary according to diagnostic group.

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7. Franz L, Howard J, Viljoen M, Sikich L, Chandrasekhar T, Kollins SH, Lee L, Ndlovu M, Sabatos-DeVito M, Seris N, Shabalala N, Spanos M, de Vries PJ, Dawson G. Pragmatic adaptations of telehealth-delivered caregiver coaching for children with autism in the context of COVID-19: Perspectives from the United States and South Africa. Autism : the international journal of research and practice. 2022; 26(1): 270-5.

COVID-19 caused many autism spectrum disorder caregiver-coaching studies to move to telehealth. Telehealth can increase the diversity of people who take part in research. This matters because most autism spectrum disorder studies have included people who have resources, are White, and live in North America and Europe. When study participants are similar, it is hard to understand which interventions can help different types of people who live in different parts of the world. While telehealth may allow more people to take part in research, it needs to « fit » the local context and consider the « digital divide » because many people around the world have no access to computers and the Internet. This short report describes changes to two research studies that include caregiver coaching based on the Early Start Denver Model in the United States and South Africa. We describe how the local context, including technology and Internet access, guided the telehealth approach. By doing so, we highlight ways to make telehealth available to more people around the world. The pandemic can help us understand how telehealth can « fit » diverse places and support high-quality research. It is important that study changes are tracked and we assess how well the changes work. COVID-19 telehealth changes to caregiver coaching can result in new ways to reach more people around the world.

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8. Frei JA, Brandenburg C, Nestor JE, Hodzic DM, Plachez C, McNeill H, Dykxhoorn DM, Nestor MW, Blatt GJ, Lin YC. Postnatal expression profiles of atypical cadherin FAT1 suggest its role in autism. Biology open. 2021; 10(6).

Genetic studies have linked FAT1 (FAT atypical cadherin 1) with autism spectrum disorder (ASD); however, the role that FAT1 plays in ASD remains unknown. In mice, the function of Fat1 has been primarily implicated in embryonic nervous system development with less known about its role in postnatal development. We show for the first time that FAT1 protein is expressed in mouse postnatal brains and is enriched in the cerebellum, where it localizes to granule neurons and Golgi cells in the granule layer, as well as inhibitory neurons in the molecular layer. Furthermore, subcellular characterization revealed FAT1 localization in neurites and soma of granule neurons, as well as being present in the synaptic plasma membrane and postsynaptic densities. Interestingly, FAT1 expression was decreased in induced pluripotent stem cell (iPSC)-derived neural precursor cells (NPCs) from individuals with ASD. These findings suggest a novel role for FAT1 in postnatal development and may be particularly important for cerebellum function. As the cerebellum is one of the vulnerable brain regions in ASD, our study warrants further investigation of FAT1 in the disease etiology.

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9. Icht M, Zukerman G, Ben-Itzchak E, Ben-David BM. Keep it simple: Identification of basic versus complex emotions in spoken language in individuals with autism spectrum disorder without intellectual disability: A meta-analysis study. Autism research : official journal of the International Society for Autism Research. 2021; 14(9): 1948-64.

Daily functioning involves identifying emotions in spoken language, a fundamental aspect of social interactions. To date, there is inconsistent evidence in the literature on whether individuals with autism spectrum disorder without intellectual disability (ASD-without-ID) experience difficulties in identification of spoken emotions. We conducted a meta-analysis (literature search following the PRISMA guidelines), with 26 data sets (taken from 23 peer-reviewed journal articles) comparing individuals with ASD-without-ID (N = 614) and typically-developed (TD) controls (N = 640), from nine countries and in seven languages (published until February 2020). In our analyses there was no sufficient evidence to suggest that individuals with HF-ASD differ from matched controls in the identification of simple prosodic emotions (e.g., sadness, happiness). However, individuals with ASD-without-ID were found to perform significantly worse than controls in identification of complex prosodic emotions (e.g., envy and boredom). The level of the semantic content of the stimuli presented (e.g., sentences vs. strings of digits) was not found to have an impact on the results. In conclusion, the difference in findings between simple and complex emotions calls for a new-look on emotion processing in ASD-without-ID. Intervention programs may rely on the intact abilities of individuals with ASD-without-ID to process simple emotions and target improved performance with complex emotions. LAY SUMMARY: Individuals with autism spectrum disorder without intellectual disability (ASD-without-ID) do not differ from matched controls in the identification of simple prosodic emotions (e.g., sadness, happiness). However, they were found to perform significantly worse than controls in the identification of complex prosodic emotions (e.g., envy, boredom). This was found in a meta-analysis of 26 data sets with 1254 participants from nine countries and in seven languages. Intervention programs may rely on the intact abilities of individuals with ASD-without-ID to process simple emotions.

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10. Isenstein EL, Park WJ, Tadin D. Atypical and inflexible visual encoding in autism spectrum disorder. PLoS biology. 2021; 19(6): e3001293.

Encoding, which involves translating sensory information into neural representations, is a critical first step in the sensory-perceptual pathway. Using a visual orientation task, a new study found both lower encoding capacity and less flexible adaptation in people with autism spectrum disorder.

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11. Kuehn BM. Adolescents With Autism Face Multiple Unmet Health Needs. Jama. 2021; 325(22): 2244.

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12. Landes SD, Turk MA, Damiani MR, Proctor P, Baier S. Risk Factors Associated With COVID-19 Outcomes Among People With Intellectual and Developmental Disabilities Receiving Residential Services. JAMA network open. 2021; 4(6): e2112862.

IMPORTANCE: Although there is evidence of more severe COVID-19 outcomes, there is no information describing the risk factors for COVID-19 diagnosis and/or mortality among people with intellectual and developmental disabilities (IDD) receiving residential support services in the US. OBJECTIVE: To identify associations between demographic characteristics, residential characteristics, and/or preexisting health conditions and COVID-19 diagnosis and mortality for people with IDD receiving residential support services. DESIGN, SETTING, AND PARTICIPANTS: This cohort study tracked COVID-19 outcomes for 543 individuals with IDD. Participants were receiving support services from a single organization providing residential services in the 5 boroughs of New York City from March 1 to October 1, 2020. Statistical analysis was performed from December 2020 to February 2021. EXPOSURES: Resident-level characteristics, including age, sex, race/ethnicity, disability status, residential characteristics, and preexisting medical conditions. MAIN OUTCOMES AND MEASURES: COVID-19 diagnosis was confirmed by laboratory test. COVID-19 mortality indicated that the individual died from COVID-19 during the course of the study. Logistic regression models were used to evaluate associations between demographic characteristics, residential characteristics, and preexisting health conditions and COVID-19 diagnosis and mortality. RESULTS: Among the 543 individuals with IDD in the study, the median (interquartile range) age was 57.0 (45-65) years; 217 (40.0%) were female, and 274 (50.5%) were Black, Asian/Pacific Islander, American Indian or Alaskan Native, or Hispanic. The case rate was 16 759 (95% CI, 13 853-20 131) per 100 000; the mortality rate was 6446 (95% CI, 4671-8832) per 100 000; and the case-fatality rate was 38.5% (95% CI, 29.1%-48.7%). Increased age (odds ratio [OR], 1.04; 95% CI, 1.02-1.06), Down syndrome (OR, 2.91; 95% CI, 1.49-5.69), an increased number of residents (OR, 1.07; 95% CI, 1.00-1.14), and chronic kidney disease (OR, 4.17; 95% CI, 1.90-9.15) were associated with COVID-19 diagnosis. Heart disease (OR, 10.60; 95% CI, 2.68-41.90) was associated with COVID-19 mortality. CONCLUSIONS AND RELEVANCE: This study found that, similar to the general population, increased age and preexisting health conditions were associated with COVID-19 outcomes for people with IDD receiving residential support services in New York City. As with older adults living in nursing homes, number of residents was also associated with more severe COVID-19 outcomes. Unique to people with IDD was an increased risk of COVID-19 diagnosis for people with Down syndrome.

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13. Liao Y, Dillenburger K, Hu X. Behavior analytic interventions for children with autism: Policy and practice in the United Kingdom and China. Autism : the international journal of research and practice. 2022; 26(1): 101-20.

The prevalence of autism is increasing, and the development of these children and the lived experience of their families have become a global concern. Applied behavioral analytic intervention is proved to be effective in improving their cognitive abilities, language skills, and social and emotional skills, but the service delivery between developed and developing countries is different. A qualitative study was conducted to explore personal experiences with actual practice fidelity of behavior analytic services for children with autism in a Western developed country (United Kingdom) and an Eastern developing country (China). The study found: (1) a lack of support for autism and behavioral analytic services in both countries; (2) applied behavioral analytic intervention was not as widely endorsed by healthcare or educational systems in the United Kingdom; Chinese parents faced challenges around inclusive education and accessing high-quality services and there was a social stigma attached to autism; (3) a limited awareness and application of early intensive behavior intervention in both regions; and (4) intervention fidelity with regards to the practice of one particular aspect of behavioral analytic interventions was similar and increased with ongoing training. This study emphasizes the need to support children with autism, and to consider regional adaptations of evidence-based practice of behavior analytic interventions for the affected population.

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14. Lopez K. Commentary on « Exploring the Experiences of Families of Latino Children Newly Diagnosed with Autism Spectrum Disorder ». Journal of developmental and behavioral pediatrics : JDBP. 2021; 42(9): 761-2.

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15. Minissi ME, Chicchi Giglioli IA, Mantovani F, Alcañiz Raya M. Assessment of the Autism Spectrum Disorder Based on Machine Learning and Social Visual Attention: A Systematic Review. Journal of autism and developmental disorders. 2022; 52(5): 2187-202.

The assessment of autism spectrum disorder (ASD) is based on semi-structured procedures addressed to children and caregivers. Such methods rely on the evaluation of behavioural symptoms rather than on the objective evaluation of psychophysiological underpinnings. Advances in research provided evidence of modern procedures for the early assessment of ASD, involving both machine learning (ML) techniques and biomarkers, as eye movements (EM) towards social stimuli. This systematic review provides a comprehensive discussion of 11 papers regarding the early assessment of ASD based on ML techniques and children’s social visual attention (SVA). Evidences suggest ML as a relevant technique for the early assessment of ASD, which might represent a valid biomarker-based procedure to objectively make diagnosis. Limitations and future directions are discussed.

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16. Sbardella D, Tundo GR, Campagnolo L, Valacchi G, Orlandi A, Curatolo P, Borsellino G, D’Esposito M, Ciaccio C, Di Cesare S, Pierro DD, Galasso C, Santarone ME, Hayek J, Coletta M, Marini S. Author Correction: Retention of Mitochondria in Mature Human Red Blood Cells as the Result of Autophagy Impairment in Rett Syndrome. Scientific reports. 2021; 11(1): 12337.

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17. Suzman E, Williams ZJ, Feldman JI, Failla M, Cascio CJ, Wallace MT, Niarchou M, Sutcliffe JS, Wodka E, Woynaroski TG. Psychometric validation and refinement of the Interoception Sensory Questionnaire (ISQ) in adolescents and adults on the autism spectrum. Molecular autism. 2021; 12(1): 42.

BACKGROUND: Individuals on the autism spectrum are reported to display alterations in interoception, the sense of the internal state of the body. The Interoception Sensory Questionnaire (ISQ) is a 20-item self-report measure of interoception specifically intended to measure this construct in autistic people. The psychometrics of the ISQ, however, have not previously been evaluated in a large sample of autistic individuals. METHODS: Using confirmatory factor analysis, we evaluated the latent structure of the ISQ in a large online sample of adults on the autism spectrum and found that the unidimensional model fit the data poorly. Using misspecification analysis to identify areas of local misfit and item response theory to investigate the appropriateness of the seven-point response scale, we removed redundant items and collapsed the response options to put forth a novel eight-item, five-response choice ISQ. RESULTS: The revised, five-response choice ISQ (ISQ-8) showed much improved fit while maintaining high internal reliability. Differential item functioning (DIF) analyses indicated that the items of the ISQ-8 were answered in comparable ways by autistic adolescents and adults and across multiple other sociodemographic groups. LIMITATIONS: Our results were limited by the fact that we did not collect data for typically developing controls, preventing the analysis of DIF by diagnostic status. Additionally, while this study proposes a new 5-response scale for the ISQ-8, our data were not collected using this method; thus, the psychometric properties for the revised version of this instrument require further investigation. CONCLUSION: The ISQ-8 shows promise as a reliable and valid measure of interoception in adolescents and adults on the autism spectrum, but additional work is needed to examine its psychometrics in this population. A free online score calculator has been created to facilitate the use of ISQ-8 latent trait scores for further studies of autistic adolescents and adults (available at https://asdmeasures.shinyapps.io/ISQ_score/ ).

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18. Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. American journal of human genetics. 2021; 108(7): 1330-41.

Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various subunits of AP complexes have been implicated in several heritable human disorders, including intellectual disabilities (IDs). Here, we report two bi-allelic (c.737C>A [p.Pro246His] and c.1105A>G [p.Met369Val]) and eight de novo heterozygous variants (c.44G>A [p.Arg15Gln], c.103C>T [p.Arg35Trp], c.104G>A [p.Arg35Gln], c.229delC [p.Gln77Lys(∗)11], c.399_400del [p.Glu133Aspfs(∗)37], c.747G>T [p.Gln249His], c.928-2A>C [p.?], and c.2459C>G [p.Pro820Arg]) in AP1G1, encoding gamma-1 subunit of adaptor-related protein complex 1 (AP1γ1), associated with a neurodevelopmental disorder (NDD) characterized by mild to severe ID, epilepsy, and developmental delay in eleven families from different ethnicities. The AP1γ1-mediated adaptor complex is essential for the formation of clathrin-coated intracellular vesicles. In silico analysis and 3D protein modeling simulation predicted alteration of AP1γ1 protein folding for missense variants, which was consistent with the observed altered AP1γ1 levels in heterologous cells. Functional studies of the recessively inherited missense variants revealed no apparent impact on the interaction of AP1γ1 with other subunits of the AP-1 complex but rather showed to affect the endosome recycling pathway. Knocking out ap1g1 in zebrafish leads to severe morphological defect and lethality, which was significantly rescued by injection of wild-type AP1G1 mRNA and not by transcripts encoding the missense variants. Furthermore, microinjection of mRNAs with de novo missense variants in wild-type zebrafish resulted in severe developmental abnormalities and increased lethality. We conclude that de novo and bi-allelic variants in AP1G1 are associated with neurodevelopmental disorder in diverse populations.

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19. Zhou X, Reynolds C, Kamphaus RW. Diagnostic utility of Behavior Assessment System for Children-3 for children and adolescents with autism. Applied neuropsychology Child. 2021: 1-5.

This study examined the accuracy of the Behavior Assessment System for Children-3 for Autism Spectrum Disorder (ASD) diagnosis using parent (PRS) and teaching rating (TRS) scales. The accuracy of three PRS and TRS derived scores with strong theoretical relationships to ASD (Developmental Social Disorders [DSD], Atypicality [ATP], and Withdrawal [WIT]) and the Autism Probability Index (AUI) was examined. The T scores of 149 children with ASD were compared with typically developing children within similar demographics to assess diagnostic accuracy (i.e., differential validity). The results revealed statistically significant differences for all scales between the group with ASD and the matched group of typically developing children. Sensitivity and specificity were maximized for both the PRS and TRS when DSD, ATP, and WIT scales were greater than 60 and a cut score of on the AUI was set at 55. Overall, sensitivity and specificity indexes associated with these cut scores demonstrated strong diagnostic utility for differentiating the two groups.

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