1. Keles U, Kliemann D, Byrge L, Saarimäki H, Paul LK, Kennedy DP, Adolphs R. Atypical gaze patterns in autistic adults are heterogeneous across but reliable within individuals. Mol Autism;2022 (Sep 24);13(1):39.

BACKGROUND: Across behavioral studies, autistic individuals show greater variability than typically developing individuals. However, it remains unknown to what extent this variability arises from heterogeneity across individuals, or from unreliability within individuals. Here, we focus on eye tracking, which provides rich dependent measures that have been used extensively in studies of autism. Autistic individuals have an atypical gaze onto both static visual images and dynamic videos that could be leveraged for diagnostic purposes if the above open question could be addressed. METHODS: We tested three competing hypotheses: (1) that gaze patterns of autistic individuals are less reliable or noisier than those of controls, (2) that atypical gaze patterns are individually reliable but heterogeneous across autistic individuals, or (3) that atypical gaze patterns are individually reliable and also homogeneous among autistic individuals. We collected desktop-based eye tracking data from two different full-length television sitcom episodes, at two independent sites (Caltech and Indiana University), in a total of over 150 adult participants (N = 48 autistic individuals with IQ in the normal range, 105 controls) and quantified gaze onto features of the videos using automated computer vision-based feature extraction. RESULTS: We found support for the second of these hypotheses. Autistic people and controls showed equivalently reliable gaze onto specific features of videos, such as faces, so much so that individuals could be identified significantly above chance using a fingerprinting approach from video epochs as short as 2 min. However, classification of participants into diagnostic groups based on their eye tracking data failed to produce clear group classifications, due to heterogeneity in the autistic group. LIMITATIONS: Three limitations are the relatively small sample size, assessment across only two videos (from the same television series), and the absence of other dependent measures (e.g., neuroimaging or genetics) that might have revealed individual-level variability that was not evident with eye tracking. Future studies should expand to larger samples across longer longitudinal epochs, an aim that is now becoming feasible with Internet- and phone-based eye tracking. CONCLUSIONS: These findings pave the way for the investigation of autism subtypes, and for elucidating the specific visual features that best discriminate gaze patterns-directions that will also combine with and inform neuroimaging and genetic studies of this complex disorder.

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2. Lee CE, Hagiwara M, Chiu CY, Takishima M. Caregiving and future planning perspectives of siblings of individuals with intellectual and developmental disabilities: Insights from South Korea, Japan and Taiwan. J Appl Res Intellect Disabil;2022 (Sep 24)

BACKGROUND: As individuals with intellectual and developmental disabilities age, their siblings are more likely to assume caregiving responsibilities. However, little is known about experiences of East Asian siblings with respect to their caregiving and future-planning within their own country, as well as other East Asian countries. METHODS: Using a national survey, this study explored experiences of 576 siblings across South Korea, Japan and Taiwan. RESULTS: A common factor across the three countries was that siblings were less engaged in advocacy and future-planning activities and felt less competent to play the role of caregiving. Korean siblings reported more negative views about disability, while Japanese siblings reported less engagement in future-planning and Taiwanese siblings reported greater involvement in caregiving. CONCLUSION: Based on ‘universalism without uniformity’, it is recommended to develop culturally sensitive sibling-targeted intervention based on each country’s context.

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3. Lee IH, Koelliker E, Kong SW. Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder. Transl Psychiatry;2022 (Sep 24);12(1):407.

Autism spectrum disorder (ASD) represents a heterogeneous group of neurodevelopmental disorders and is largely attributable to genetic risk factors. Phenotypic and genetic heterogeneity of ASD have been well-recognized; however, genetic substrates for endophenotypes that constitute phenotypic heterogeneity are not yet known. In the present study, we compiled data from the Autism Genetic Resource Exchange, which contains the demographic and detailed phenotype information of 11,961 individuals. Notably, the whole-genome sequencing data available from MSSNG and iHART for 3833 individuals in this dataset was used to perform an endophenotype-wide association study. Using a linear mixed model, genome-wide association analyses were performed for 29 endophenotype scores and 0.58 million common variants with variant allele frequency ≥ 5%. We discovered significant associations between 9 genetic variants and 6 endophenotype scores comprising neurocognitive development and severity scores for core symptoms of ASD at a significance threshold of p < 5 × 10(-7). Of note, the Stereotyped Behaviors and Restricted Interests total score in Autism Diagnostic Observation Schedule Module 3 was significantly associated with multiple variants in the VPS13B gene, a causal gene for Cohen syndrome and a candidate gene for syndromic ASD. Our findings yielded loci with small effect sizes due to the moderate sample size and, thus, require validation in another cohort. Nonetheless, our endophenotype-wide association analysis extends previous candidate gene discovery in the context of genotype and endophenotype association. As a result, these candidate genes may be responsible for specific traits that constitute core symptoms and neurocognitive function of ASD rather than the disorder itself.

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4. Lee JYS, Whittingham K, Mitchell AE. Childhood experiences of being parented, adult attachment, psychological inflexibility, social engagement, and mental health of autistic adults. Res Dev Disabil;2022 (Sep 21);130:104343.

BACKGROUND: Autistic adults have an increased risk of poor mental health. Although parental care and overprotection in childhood influence later attachment and mental health in the general adult population, this has not been investigated in the autistic population. Likewise, the roles of psychological inflexibility and social engagement in influencing mental health outcomes for autistic adults have yet to be examined. AIMS: To examine if retrospectively recalled childhood experiences of parental care and overprotection, as well as current adult attachment, psychological inflexibility and social engagement are associated with mental health in autistic adulthood. Further, to examine mediators of the association between parental care and overprotection and mental health in autistic adults. METHODS AND PROCEDURES: A community-recruited convenience sample of 126 Australian autistic adults completed an online survey assessing childhood experiences of parental care and overprotection and current adult attachment, psychological inflexibility, social engagement, and mental health. OUTCOMES AND RESULTS: Linear regressions showed that psychological inflexibility was the strongest predictor of depression, anxiety, and stress, followed by attachment anxiety (depression, anxiety) and attachment avoidance (anxiety, stress). Mediation analyses revealed that psychological inflexibility and attachment anxiety mediated the associations between parental care and overprotection and mental health outcomes in autistic adulthood. CONCLUSIONS AND IMPLICATIONS: Psychological inflexibility and adult attachment (anxious and avoidant attachment) are important to understanding mental health of autistic adults. Psychological inflexibility and attachment anxiety mediate associations between recalled childhood experiences of parental care and overprotection and mental health in autistic adulthood.

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5. Sparaci L, Formica D, Lasorsa FR, Raiano L, Venuti P, Capirci O. New Methods for Unraveling Imitation Accuracy Differences Between Children with Autism and Typically Developing Peers. Percept Mot Skills;2022 (Sep 23):315125221126215.

This study applies methods used in sign language and gesture research to better understand reduced imitation accuracy (IA) of actions and gestures in children with autism spectrum disorder (ASD), and we addressed contrasting theories on IA in ASD and the role of objects and meanings in imitation. Eight male children with ASD with a mean chronological age (CA) of 86.76 months (SD = 10.74, range 70.5-104.4) and 22 male and female peers with typical development (TD) and a mean CA of 85.44 months (SD = 7.95, range 73.4-96.7) imitated videos of an adult performing actions with objects, representational gestures, conventional gestures and meaningless gestures. We measured accuracy as ability to effectively reproduce features (handshape, palm orientation, location, movement direction and type) and timing (speed) of observed actions/gestures, after ruling out cases of specular (i.e., mirror-like) versus anatomical imitation. Results highlighted significantly lower feature and timing accuracy in children with ASD with respect to the TD group across tasks, and these findings supported sensory-motor theories of IA in ASD. Our data also showed the different impact of objects and meanings within groups. Overall, these results suggest validity to our assessment method and suggested the importance of considering both discreet variables (i.e., variables describing action/gesture feature accuracy, e.g. handshape, movement direction) and continuous variables (i.e., kinematic variables, e.g. speed) in evaluating IA in autism.

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6. Tsuji C, Furuhara K, Mizutani R, Minami K, Fu P, Zhong J, Higashida H, Yokoyama S, Tsuji T. Early-onset of social communication and locomotion activity in F2 pups of a valproic acid-induced mouse model of autism. Neurosci Lett;2022 (Sep 25);788:136827.

Autism spectrum disorder (ASD) is a heterogeneously pervasive developmental disorder that usually occurs before 3 years old. Animal models of psychiatric disorders are essential for elucidating the underlying preclinical neural mechanisms. Mice that are prenatally exposed to valproic acid (VPA, F1) are widely used as an ASD model. Epigenetics has recently been suggested as a contributor to ASD etiology with the hypothesis that epigenetic marks can be transgenerationally inherited. Previous studies have indicated that autism-like behavioral phenotypes detected in F1 VPA mice transgenetically appear in F2 and F3 generations. However, studies on the autism-like behavioral phenotypes during the early postnatal days in subsequent generations are scarce. Here, the behavioral deficit on postnatal day 5 of the F2 generation was examined to assess the onset of ASD symptoms. Communication disorders were examined by analyzing maternal separation-induced ultrasonic vocalizations (USVs). Although the duration and frequency of USVs were not significantly altered, the emission rate was significantly lower in F2 VPA pups. Furthermore, the locomotive activity with or without littermates was altered in F2 VPA pups. The data of the current study suggest that social deficit and impaired locomotion are inherited by the subsequent generation and were apparent on early postnatal day 5.

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7. Ye C, Chen QY, Ma XQ, Lv P, Yang HL, Tian D, Zhao ZL, Lin JQ, Cui N, Li HL, Qin H. [Long-term outcomes of 328 patients with of autism spectrum disorder after fecal microbiota transplantation]. Zhonghua Wei Chang Wai Ke Za Zhi;2022 (Sep 25);25(9):798-803.

Objective: To evaluate the efficacy and safety of fecal microbiota transplantation (FMT) in the treatment of autism spectrum disorder (ASD). Methods: A longitudinal study was conducted. Clinical data from ASD patients with gastrointestinal symptoms and who underwent FMT in the Tenth People’s Hospital affiliated to Tongji University or Jinling Hospital between May 2012 to May 2021 were retrospectively collected. Scores derived from the autism behavior checklist (ABC), the childhood autism rating scale (CARS), the Bristol stool form scale (BSFS), and the gastrointestinal symptom rating scale (GSRS) were analyzed at baseline and at the 1st, 3rd, 6th, 12th, 24th, 36th, 48th and 60th month after FMT. Records of any adverse reactions were collected. Generalized estimating equations were used for analysis of data on time points before and after FMT. Results: A total of 328 patients met the inclusion criteria for this study. Their mean age was 6.1±3.4 years old. The cohort included 271 boys and 57 girls. The percentage of patients remaining in the study for post-treatment follow-up at the 1st, 3rd, 12th, 24th, 36th, 48th and 60th month were as follows: 303 (92.4%), 284 (86.7%), 213 (64.9%), 190 (57.9%), 143 (43.6%), 79 (24.1%), 46 (14.0%), 31 (9.5%). After FMT, the average ABC score was significantly improved in the first 36 months and remained improved at the 48th month. However, the average score was not significantly different from baseline by the 60th month (1st-36th month, P<0.001; 48th month, P=0.008; 60th month, P=0.108). The average CARS score improved significantly during the first 48 months and remained improved at the 60th month (1st-48th month, P<0.001; 60th month, P=0.010). The average BSFS score was also significantly improved in the first 36 months (with an accompanying stool morphology that resembled type 4). This improvement was maintained at the 48th month. However, the average score was similar to baseline at the 60th month (1st-36th month, P<0.001; 48th month, P=0.008; 60th month, P=0.109). The average GSRS score was significantly improved during the first 24 months, but not afterwards (1st-24th month, P<0.001; 36th month, P=0.209; 48th month, P=0.996; 60th month, P=0.668). The adverse events recorded during treatment included abdominal distension in 21 cases (6.4%), nausea in 14 cases (4.3%), vomiting in 9 cases (2.7%), abdominal pain in 15 cases (4.6%), diarrhea in 18 cases (5.5%), fever in 13 cases (4.0%), and excitement in 24 cases (7.3%). All adverse reactions were mild to moderate and improved immediately after suspension of FMT or on treatment of symptoms. No serious adverse reactions occurred. Conclusion: FMT has satisfactory long-term efficacy and safety for the treatment of ASD with gastrointestinal symptoms.

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