1. Curry AE, Metzger KB, Carey ME, Sartin EB, Huang P, Yerys BE. Comparison of Motor Vehicle Crashes, Traffic Violations, and License Suspensions Between Autistic and Non-autistic Adolescent and Young Adult Drivers. J Am Acad Child Adolesc Psychiatry ;2021 (Jan 13)

OBJECTIVE : One-third of autistic individuals obtain a driver’s license by age 21 ; however, prior studies suggest they may be at heightened risk for motor vehicle crashes. We compared objective rates of crashes, traffic violations, and license suspensions for newly licensed autistic and non-autistic adolescents. METHOD : This retrospective cohort study included New Jersey residents born 1987-2000 who were patients of the Children’s Hospital of Philadelphia healthcare network. Electronic health records were linked with statewide driver licensing and crash databases. Autism status was classified via ICD diagnostic codes ; those with intellectual disability were excluded. We compared rates among 486 autistic and 70,990 non-autistic licensed drivers over their first 48 months of driving. Further, we examined the proportion of crashes attributed to specific driver actions and crash types. RESULTS : Compared with non-autistic drivers, autistic drivers were estimated to have lower average monthly rates of crash involvement (adjRR : 0.89 [0.75-1.05]), moving violations (0.56 [0.48-0.67]), and suspensions (0.32 [0.18-0.58]). Among drivers involved in a crash, autistic drivers were half as likely to crash due to unsafe speed, but substantially more likely to crash due to their failure to yield to a vehicle/pedestrian and while making left- or U-turns. CONCLUSION : Newly licensed autistic adolescent drivers have similar to lower estimated rates of adverse driving outcomes ; the extent to which these can be attributed to different driving patterns is a critical point for future investigation. There were several notable differences in the characteristics of these crashes, which directly inform interventions to improve driving safety of autistic adolescent drivers.

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2. Ehrhart F, Jacobsen A, Rigau M, Bosio M, Kaliyaperumal R, Laros JFJ, Willighagen EL, Valencia A, Roos M, Capella-Gutierrez S, Curfs LMG, Evelo CT. A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. Sci Data ;2021 (Jan 15) ;8(1):10.

Rett syndrome (RTT) is a rare neurological disorder mostly caused by a genetic variation in MECP2. Making new MECP2 variants and the related phenotypes available provides data for better understanding of disease mechanisms and faster identification of variants for diagnosis. This is, however, currently hampered by the lack of interoperability between genotype-phenotype databases. Here, we demonstrate on the example of MECP2 in RTT that by making the genotype-phenotype data more Findable, Accessible, Interoperable, and Reusable (FAIR), we can facilitate prioritization and analysis of variants. In total, 10,968 MECP2 variants were successfully integrated. Among these variants 863 unique confirmed RTT causing and 209 unique confirmed benign variants were found. This dataset was used for comparison of pathogenicity predicting tools, protein consequences, and identification of ambiguous variants. Prediction tools generally recognised the RTT causing and benign variants, however, there was a broad range of overlap Nineteen variants were identified that were annotated as both disease-causing and benign, suggesting that there are additional factors in these cases contributing to disease development.

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3. Kowallik AE, Pohl M, Schweinberger SR. Facial Imitation Improves Emotion Recognition in Adults with Different Levels of Sub-Clinical Autistic Traits. J Intell ;2021 (Jan 13) ;9(1)

We used computer-based automatic expression analysis to investigate the impact of imitation on facial emotion recognition with a baseline-intervention-retest design. The participants : 55 young adults with varying degrees of autistic traits, completed an emotion recognition task with images of faces displaying one of six basic emotional expressions. This task was then repeated with instructions to imitate the expressions. During the experiment, a camera captured the participants’ faces for an automatic evaluation of their imitation performance. The instruction to imitate enhanced imitation performance as well as emotion recognition. Of relevance, emotion recognition improvements in the imitation block were larger in people with higher levels of autistic traits, whereas imitation enhancements were independent of autistic traits. The finding that an imitation instruction improves emotion recognition, and that imitation is a positive within-participant predictor of recognition accuracy in the imitation block supports the idea of a link between motor expression and perception in the processing of emotions, which might be mediated by the mirror neuron system. However, because there was no evidence that people with higher autistic traits differ in their imitative behavior per se, their disproportional emotion recognition benefits could have arisen from indirect effects of imitation instructions.

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4. Mesleh AG, Abdulla SA, El-Agnaf O. Paving the Way toward Personalized Medicine : Current Advances and Challenges in Multi-OMICS Approach in Autism Spectrum Disorder for Biomarkers Discovery and Patient Stratification. J Pers Med ;2021 (Jan 13) ;11(1)

Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder characterized by impairments in two main areas : social/communication skills and repetitive behavioral patterns. The prevalence of ASD has increased in the past two decades, however, it is not known whether the evident rise in ASD prevalence is due to changes in diagnostic criteria or an actual increase in ASD cases. Due to the complexity and heterogeneity of ASD, symptoms vary in severity and may be accompanied by comorbidities such as epilepsy, attention deficit hyperactivity disorder (ADHD), and gastrointestinal (GI) disorders. Identifying biomarkers of ASD is not only crucial to understanding the biological characteristics of the disorder, but also as a detection tool for its early screening. Hence, this review gives an insight into the main areas of ASD biomarker research that show promising findings. Finally, it covers success stories that highlight the importance of precision medicine and the current challenges in ASD biomarker discovery studies.

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5. Neff EP. A forward screen in mice finds a hit in humans with autism spectrum disorder. Lab Anim (NY) ;2021 (Feb) ;50(2):48.

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6. Rumball F, Antal K, Happé F, Grey N. Co-occurring mental health symptoms and cognitive processes in trauma-exposed ASD adults. Res Dev Disabil ;2021 (Jan 13) ;110:103836.

BACKGROUND : Mental health problems are common amongst adults with an Autism Spectrum Disorder (ASD). Stressful and traumatic life events can trigger or exacerbate symptoms of anxiety, depression and PTSD. In the general population, transdiagnostic processes such as suppression and perseverative thinking are associated with responses to trauma and mental health symptoms. AIMS : This study explored the relationships between thought suppression, perseverative thinking and symptoms of depression, anxiety and PTSD in ASD adults who reported exposure to a range of DSM-5 and non-DSM-5 traumatic events. METHODS : 59 ASD adults completed a series of online self-report questionnaires measuring trauma, transdiagnostic cognitive processes, and mental health symptoms. RESULTS : Probable PTSD rarely occurred in isolation and was associated with depression and anxiety symptoms in trauma-exposed ASD adults. All cognitive processes and mental health symptoms were positively associated with one another, regardless of whether the trauma met DSM-5 PTSD Criterion A. When accounting for both cognitive processes, only thought suppression significantly predicted PTSD and anxiety symptoms, while only perseverative thinking significantly predicted depression symptoms. CONCLUSIONS AND IMPLICATIONS : These preliminary results suggest that different cognitive processes more strongly affect anxiety/PTSD versus depression symptom severity in trauma-exposed ASD adults, although co-occurring symptoms are common. Implications for assessment, treatment and future research are discussed.

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7. Wilson RB, Vangala S, Elashoff D, Safari T, Smith BA. Using Wearable Sensor Technology to Measure Motion Complexity in Infants at High Familial Risk for Autism Spectrum Disorder. Sensors (Basel) ;2021 (Jan 17) ;21(2)

BACKGROUND : Motor dysfunction has been reported as one of the first signs of atypical development in infants at high familial risk for autism spectrum disorder (ASD) (HR infants). However, studies have shown inconsistent results regarding the nature of motor dysfunction and whether it can be predictive of later ASD diagnosis. This is likely because current standardized motor assessments may not identify subtle and specific motor impairments that precede clinically observable motor dysfunction. Quantitative measures of motor development may address these limitations by providing objective evaluation of subtle motor differences in infancy. METHODS : We used Opal wearable sensors to longitudinally evaluate full day motor activity in HR infants, and develop a measure of motion complexity. We focus on complexity of motion because optimal motion complexity is crucial to normal motor development and less complex behaviors might represent repetitive motor behaviors, a core diagnostic symptom of ASD. As proof of concept, the relationship of the motion complexity measure to developmental outcomes was examined in a small set of HR infants. RESULTS : HR infants with a later diagnosis of ASD show lower motion complexity compared to those that do not. There is a stronger correlation between motion complexity and ASD outcome compared to outcomes of cognitive ability and adaptive skills. CONCLUSIONS : Objective measures of motor development are needed to identify characteristics of atypical infant motor function that are sensitive and specific markers of later ASD risk. Motion complexity could be used to track early infant motor development and to discriminate HR infants that go on to develop ASD.

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8. Wright B, Konstantopoulou K, Sohal K, Kelly B, Morgan G, Hulin C, Mansoor S, Mon-Williams M. Systematic approach to school-based assessments for autism spectrum disorders to reduce inequalities : a feasibility study in 10 primary schools. BMJ Open ;2021 (Jan 17) ;11(1):e041960.

OBJECTIVES : This was a pilot study to explore whether the Early Years Foundation Stage Profile (EYFSP) carried out by UK teachers within the ‘reception’ year, combined with the Social Communication Questionnaire (SCQ), can lead to early identification of children with autism spectrum disorders (ASD) and early access to intervention and can reduce inequity in access to assessment and intervention. DESIGN : Pragmatic prospective cohort. SETTING : Ten primary schools from the SHINE project in Bradford. PARTICIPANTS : 587 pupils from 10 schools who transitioned from reception to year 1 in July 2017 and had the EYFSP completed were included in the final study. INTERVENTIONS : The assessment involved a multidisciplinary team of three staff who completed Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule Version 2, classroom observations with an ASD checklist, a teacher-based ASD questionnaire and a final consensus meeting. PRIMARY OUTCOME MEASURE : National Institute for Health and Care Excellence guideline-compliant clinical diagnosis of ASD. SECONDARY OUTCOME MEASURES : Age of diagnosis, demographic data and feasibility parameters. RESULTS : Children with low scores on the EYFSP were more likely to score above the SCQ threshold of 12, indicating potential autism (50% compared with 19% of children with high scores on the EYFSP (p<0.001)). All children scoring above the SCQ threshold received a full autism assessment ; children who scored low on the EYFSP were more likely to be diagnosed with autism (and other developmental issues) compared with those who did not. CONCLUSIONS : We identified nine new children with a diagnosis of ASD, all from ethnic minorities, suggesting that this process may be addressing the inequalities in early diagnosis found in previous studies. All children who scored above the SCQ threshold required support (ie, had a neurodevelopmental disorder), indicating the EYFSP questionnaire captured 'at-risk' children.

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