1. Cañigueral R, Ward JA, Hamilton AFC. {{Effects of being watched on eye gaze and facial displays of typical and autistic individuals during conversation}}. {Autism};2020 (Aug 27):1362361320951691.
When we are communicating with other people, we exchange a variety of social signals through eye gaze and facial expressions. However, coordinated exchanges of these social signals can only happen when people involved in the interaction are able to see each other. Although previous studies report that autistic individuals have difficulties in using eye gaze and facial expressions during social interactions, evidence from tasks that involve real face-to-face conversations is scarce and mixed. Here, we investigate how eye gaze and facial expressions of typical and high-functioning autistic individuals are modulated by the belief in being seen by another person, and by being in a face-to-face interaction. Participants were recorded with an eye-tracking and video-camera system while they completed a structured Q&A task with a confederate under three social contexts: pre-recorded video (no belief in being seen, no face-to-face), video-call (belief in being seen, no face-to-face) and face-to-face (belief in being seen and face-to-face). Typical participants gazed less to the confederate and made more facial expressions when they were being watched and when they were speaking. Contrary to our hypotheses, eye gaze and facial expression patterns in autistic participants were overall similar to the typical group. This suggests that high-functioning autistic participants are able to use eye gaze and facial expressions as social signals. Future studies will need to investigate to what extent this reflects spontaneous behaviour or the use of compensation strategies.
Lien vers le texte intégral (Open Access ou abonnement)
2. Constantino JN, Sahin M, Piven J, Rodgers R, Tschida J. {{The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities}}. {Am J Psychiatry};2020 (Aug 28):appiajp202020060780.
Lien vers le texte intégral (Open Access ou abonnement)
3. Crawford H, Scerif G, Wilde L, Beggs A, Stockton J, Sandhu P, Shelley L, Oliver C, McCleery J. {{Genetic modifiers in rare disorders: the case of fragile X syndrome}}. {Eur J Hum Genet};2020 (Aug 29)
Methods employed in genome-wide association studies are not feasible ways to explore genotype-phenotype associations in rare disorders due to limited statistical power. An alternative approach is to examine relationships among specific single nucleotide polymorphisms (SNPs), selected a priori, and behavioural characteristics. Here, we adopt this strategy to examine relationships between three SNPs (5-HTTLPR, MAOA, COMT) and specific clinically-relevant behaviours that are phenotypic of fragile X syndrome (FXS) but vary in severity and frequency across individuals. Sixty-four males with FXS participated in the current study. Data from standardised informant measures of challenging behaviour (defined as physical aggression, property destruction, stereotyped behaviour, and self-injury), autism symptomatology, attention-deficit-hyperactivity-disorder characteristics, repetitive behaviour and mood/interest and pleasure were compared between each SNP genotype. No association was observed between behavioural characteristics and either 5-HTTLPR (serotonin) or MAOA (monoamine oxidase) genotypes. However, compared to the COMT (dopamine) AG and GG genotypes, the AA genotype was associated with greater interest and pleasure in the environment, and with reduced risk for property destruction, stereotyped behaviour and compulsive behaviour. The results suggest that common genetic variation in the COMT genotype affecting dopamine levels in the brain may contribute to the variability of challenging and repetitive behaviours and interest and pleasure in this population. This study identifies a role for additional genetic risk in understanding the neural and genetic mechanisms contributing to phenotypic variability in neurodevelopmental disorders, and highlights the merit of investigating SNPs that are selected a priori on a theoretical basis in rare populations.
Lien vers le texte intégral (Open Access ou abonnement)
4. den Houting J, Higgins J, Isaacs K, Mahony J, Pellicano E. {{‘I’m not just a guinea pig’: Academic and community perceptions of participatory autism research}}. {Autism};2020 (Aug 27):1362361320951696.
Participatory research means working together (engaging) with the community that is affected by research to make decisions about that research. Participatory research is common in some fields, but it is still rare in autism research. In this study, we wanted to find out how Australian autism researchers and community members feel about participatory research. We worked with an Autistic Advisory Group to design this study, understand the results and write this article. We asked 127 people, all working on research from the Cooperative Research Centre for Living with Autism, to complete an online survey about participatory research. The survey included some questions that were answered on rating scales, and some where participants wrote their own answers. Seventy-nine people (64 researchers and 15 community members) completed most or all of the survey. The rating scales showed that most participants (82%) supported moderate or extensive community engagement in research, and most participants (72%) thought there should be more community engagement in autism research. In general, the participants rated their experiences of participatory research positively. Using the participants’ own written answers, we found four main ideas: (1) participatory research is important, but difficult; (2) many people do not fully understand what participatory research is; (3) academics and community members do not work together as = and (4) research systems are not designed for participatory research. Our results suggest that autism researchers and community members want to do more participatory research, but they might need training, support and funding to do participatory research well.
Lien vers le texte intégral (Open Access ou abonnement)
5. Frolli A, Ricci MC, Tortorelli FA, Cavallaro A, Valenzano L, Rega A, Operto FF, Corrivetti G. {{Emotional Education in Early Onset Schizophrenia and Asperger’s Syndrome}}. {Behav Sci (Basel)};2020 (Aug 29);10(9)
In this study, we aim to verify how emotional training can improve empathy and theory of mind (ToM) in patients diagnosed with early onset schizophrenia and Asperger’s syndrome. The study design includes 100 subjects divided into two experimental groups and two control groups. The two experimental groups followed a rational emotive behavior therapy (REBT) protocol. The two control groups instead underwent cognitive behavioral psychotherapy training. Analysis of Variance (ANOVA) was applied to analyze the difference between the Asperger’s syndrome (AS) and early onset schizophrenia (EOS) groups, pre and post training. Our analysis shows that the AS group improved post emotional training but only when emotions were internalized, as demonstrated by the improvement of the scores in the post-treatment eye test (ET) but not in the emotional quotient (EQ) test. The EOS group instead showed post-training improvement, not only concerning skills leading to internalizing emotions but also in empathy, as demonstrated by the improvement of EQ and Reflective Functioning Questionnaire (RFQ) test scores. These scores remained lower than in the control group. Finally, our findings reveal that the value of the treatment was more considerable for the EOS group than for the AS group due to the improvement in first- and second-order ToM skills and an improvement of empathic skills in the first group, followed by the group comprising AS subjects. In the AS group, the treatment only favored the enhancement of first-order ToM skills; however, this improved quality of life and social adaptation.
Lien vers le texte intégral (Open Access ou abonnement)
6. Hill MM, Gangi D, Miller M, Rafi SM, Ozonoff S. {{Screen time in 36-month-olds at increased likelihood for ASD and ADHD}}. {Infant Behav Dev};2020 (Aug 29);61:101484.
We examined the relationship between video-based media viewing (screen time), behavioral outcomes, and language development in 120 36-month-old children with a family history of Autism Spectrum Disorder (ASD) or Attention-Deficit/Hyperactivity Disorder (ADHD) or no family history of either condition. Participants were classified into one of three diagnostic groups: ASD (n = 20), ADHD Concerns (children with elevated ADHD symptoms; n = 14), or Comparison (n = 86). Children in the ADHD Concerns group spent more time viewing screen media than Comparison children. Increased screen time was associated with lower receptive and expressive language scores across groups. Future longitudinal studies are needed to determine the direction of effects and causality.
Lien vers le texte intégral (Open Access ou abonnement)
7. Hooshmandi M, Wong C, Khoutorsky A. {{Dysregulation of translational control signaling in autism spectrum disorders}}. {Cell Signal};2020 (Aug 25):109746.
Deviations from the optimal level of mRNA translation are linked to disorders with high rates of autism. Loss of function mutations in genes encoding translational repressors such as PTEN, TSC1, TSC2, and FMRP are associated with autism spectrum disorders (ASDs) in humans and their deletion in animals recapitulates many ASD-like phenotypes. Importantly, the activity of key translational control signaling pathways such as PI3K-mTORC1 and ERK is frequently dysregulated in autistic patients and animal models and their normalization rescues many abnormal phenotypes, suggesting a causal relationship. Mutations in several genes encoding proteins not directly involved in translational control have also been shown to mediate ASD phenotypes via altered signaling upstream of translation. This raises the possibility that the dysregulation of translational control signaling is a converging mechanism not only in familiar but also in sporadic forms of autism. Here, we overview the current knowledge on translational signaling in ASD and highlight how correcting the activity of key pathways upstream of translation reverses distinct ASD-like phenotypes.
Lien vers le texte intégral (Open Access ou abonnement)
8. Ijomone OM, Olung NF, Akingbade GT, Okoh COA, Aschner M. {{Environmental influence on neurodevelopmental disorders: Potential association of heavy metal exposure and autism}}. {J Trace Elem Med Biol};2020 (Aug 29);62:126638.
Environmental factors have been severally established to play major roles in the pathogenesis of neurodevelopmental disorders including autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder that is associated with symptoms that reduce the quality of life of affected individuals such as social interaction deficit, cognitive impairment, intellectual disabilities, restricted and repetitive behavioural patterns. ASD pathogenesis has been associated with environmental and genetic factors that alter physiologic processes during development. Here, we review literatures highlighting the environmental impact on neurodevelopmental disorders, and mechanisms by which environmental toxins may influence neurodevelopment. Furthermore, this review discusses reports highlighting neurotoxic metals (specifically, lead, mercury, cadmium, nickel and manganese) as environmental risk factors in the aetiology of ASD. This work, thus suggests that improving the environment could be vital in the management of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
9. Jarvis EN, West KL, Iverson JM. {{Object exploration during the transition to sitting: A study of infants at heightened risk for autism spectrum disorder}}. {Infancy};2020 (Sep);25(5):640-657.
Learning to sit promotes infants’ object exploration because it offers increased access to objects and an improved position for exploration (e.g., ). Infants at heightened risk (HR) for autism spectrum disorder (ASD) exhibit delays in sitting and differences in object exploration. However, little is known about the association between sitting and object exploration among HR infants. We examined changes in object exploration as HR infants (N = 19) and comparison infants with no family history of ASD (Low Risk; LR; N = 23) gained experience sitting independently. Infants were observed monthly from 2.5 months until 1 month after the onset of independent sitting. At 12, 18, 24, and 36 months, infants completed standardized developmental assessments, and HR infants were assessed for ASD symptoms at 36 months. Although HR infants began sitting later than LR infants, both groups increased time spent grasping, shaking, banging, and mouthing objects as they gained sitting experience. Groups only differed in time spent actively mouthing objects, with LR infants showing a greater increase in active mouthing than HR infants. Findings suggest that HR infants experience a similar progression of object exploration across sitting development, but on a delayed time scale.
Lien vers le texte intégral (Open Access ou abonnement)
10. Javed S, Selliah T, Lee YJ, Huang WH. {{Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy}}. {Neurosci Biobehav Rev};2020 (Aug 25)
Autism spectrum disorders (ASDs) are a group of heterogenous neurodevelopmental disorders affecting 1 in 59 children. Syndromic ASDs are commonly associated with chromosomal rearrangements or dosage imbalance involving a single gene. Many of genes are dosage-sensitive and regulate transcription, protein homeostasis, and synaptic function in the brain. Despite vastly different molecular perturbations, syndromic ASDs share core symptoms including social dysfunction and repetitive behavior. However, each ASD subtype has a unique pathogenic mechanism and combination of comorbidities that require individual attention. We have learned a great deal about how these dosage-sensitive genes control brain development and behaviors from genetically-engineered mice. Here we describe the clinical features of eight monogenic neurodevelopmental disorders caused by dosage imbalance of four genes, as well as recent advances in using genetic mouse models to understand their pathogenic mechanisms and develop intervention strategies. We propose that applying newly developed quantitative molecular and neuroscience technologies will advance our understanding of the unique neurobiology of each disorder and enable the development of personalized therapy.
Lien vers le texte intégral (Open Access ou abonnement)
11. Ketcheson L, Felzer-Kim IT, Hauck JL. {{Promoting Adapted Physical Activity Regardless of Language Ability in Young Children With Autism Spectrum Disorder}}. {Res Q Exerc Sport};2020 (Aug 27):1-11.
Purpose: There is a relationship between motor and language skills in children with Autism Spectrum Disorder (ASD), but little work addresses the ramifications of this relationship for professionals who teach motor skills to this population. Within a motor skills intervention, this study probed the importance of language skills for motor intervention. We examined the relationship between motor and language skills at baseline, and then the relationship between baseline language skills and motor improvements resulting from the intervention. Method: Twenty children aged 4-6 years with ASD participated. Eleven children received 20 hr per week of motor intervention for 8 weeks. Nine children did not receive motor intervention. Language skills (Mullen Scales of Early Learning) and motor skills (Test of Gross Motor Development – 2) were assessed at baseline and post-intervention. Spearman correlations tested the associations between baseline language and baseline motor skills. This analysis was repeated in the intervention sample to test the association between baseline language level and response to intervention (motor skill changes from baseline to post-intervention). Results: Prior to intervention, locomotor skills are positively correlated (p < .001) with both receptive (rs = 0.827) and expressive (rs = 0.722) language skills. Similarly, object-control skills are positively correlated (rs < .001) with receptive (rs = 0.779) and expressive (rs = 0.729) language skills. However, those baseline language skills do not relate to motor change in the experimental group. Conclusion: These results suggest that motor programs may improve motor skills in children with ASD when language is supported, regardless of pre-program language ability. Lien vers le texte intégral (Open Access ou abonnement)
12. Kwon CS, Schupper AJ, Fields MC, Marcuse LV, La Vega-Talbott M, Panov F, Ghatan S. {{Centromedian thalamic responsive neurostimulation for Lennox-Gastaut epilepsy and autism}}. {Ann Clin Transl Neurol};2020 (Aug 29)
The RNS System is not approved in patients under 18, although a critical need for novel treatment modalities in this vulnerable population persist. We present two pediatric patients with drug-resistant epilepsy secondary to Lennox-Gastaut Syndrome (LGS) and autism spectrum disorder (ASD) treated with the RNS System. Both patients have experienced 75-99% clinical seizure reductions in >1 year of follow-up. We illustrate that children with diffuse onset, multifocal epilepsy, including frontal and thalamic circuits thought to exist in the generation of LGS seizures, can be treated with responsive neurostimulation safely and effectively, targeting thalamic networks, and avoiding palliative disconnections and resections.
Lien vers le texte intégral (Open Access ou abonnement)
13. McDougal E, Riby DM, Hanley M. {{Profiles of academic achievement and attention in children with and without Autism Spectrum Disorder}}. {Res Dev Disabil};2020 (Aug 25);106:103749.
BACKGROUND: Academic outcomes for autistic individuals are heterogeneous, but the reasons for this are unknown. Attention is known to predict learning in typical development, but there is less evidence about this relationship in Autism Spectrum Disorders (ASD), even though attention is reported as atypical in this group. AIMS: To investigate reading and maths achievement profiles for children with and without an ASD, focusing on the role of attention in these profiles and to enable a better understanding of individual differences. METHODS: Reading, maths and attention abilities of 22 autistic children (6-16 years) and 59 TD children (6-11 years) were measured using standardised assessments. RESULTS: A hierarchical cluster analysis that included all children (N = 81) revealed three distinct transdiagnostic subgroups, characterised by children with good, average, and poorer divided attention and academic achievement respectively. Children with poorer attention and achievement displayed relative weaknesses in maths, while children with average or above-average attention and achievement showed no such weakness. CONCLUSIONS: The findings provide a novel insight into the relationship between attention and achievement and understanding individual differences in ASD and typical development.
Lien vers le texte intégral (Open Access ou abonnement)
14. Merritt JK, Collins BE, Erickson KR, Dong H, Neul JL. {{Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome}}. {Hum Mol Genet};2020 (Aug 29);29(15):2461-2470.
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). More than 35% of affected individuals have nonsense mutations in MECP2. For these individuals, nonsense suppression has been suggested as a possible therapeutic approach. To assess the viability of this strategy, we created and characterized a mouse model with the common p.R294X mutation introduced into the endogenous Mecp2 locus (Mecp2R294X). Mecp2R294X mice exhibit phenotypic abnormalities similar to those seen in complete null mouse models; however, these occur at a later time point consistent with the reduced phenotypic severity seen in affected individuals containing this specific mutation. The delayed onset of severe phenotypes is likely due to the presence of truncated MeCP2 in Mecp2R294X mice. Supplying the MECP2 transgene in Mecp2R294X mice rescued phenotypic abnormalities including early death and demonstrated that the presence of truncated MeCP2 in these mice does not interfere with wild-type MeCP2. In vitro treatment of a cell line derived from Mecp2R294X mice with the nonsense suppression agent G418 resulted in full-length MeCP2 protein production, demonstrating feasibility of this therapeutic approach. Intraperitoneal administration of G418 in Mecp2R294X mice was sufficient to elicit full-length MeCP2 protein expression in peripheral tissues. Finally, intracranial ventricular injection of G418 in Mecp2R294X mice induced expression of full-length MeCP2 protein in the mouse brain. These experiments demonstrate that translational read-through drugs are able to suppress the Mecp2 p.R294X mutation in vivo and provide a proof of concept for future preclinical studies of nonsense suppression agents in RTT.
Lien vers le texte intégral (Open Access ou abonnement)
15. Muratori F, Calderoni S, Bizzari V. {{George Frankl: an undervalued voice in the history of autism}}. {Eur Child Adolesc Psychiatry};2020 (Aug 27)
This paper aims to propose that the psychiatrist George Frankl had more than a marginal role in the early history of autism. Frankl’s conception of autism as characterized by a lack of affective language has influenced both Asperger and Kanner. First, this proposal is historically supported; second it is corroborated by Frankl’s unpublished manuscript on Autism. We found that Frankl’s perspective about autism was, and still can be, considered innovative for multiple reasons. Specifically, Frankl proposed that autism could cover a spectrum of conditions; that it is a state of mind that is not necessarily abnormal; and that it is a neurobiological condition, which primarily needs to be understood by others. Finally, Frankl’s concepts of affective contact and affective language are reconsidered with reference to contemporary neuropsychology from which autism emerges not as a higher-order cognitive deficit, but as a result of an impairment of primordial ability to process low level sensory, motor and perceptual information gained through experiencing other persons.
Lien vers le texte intégral (Open Access ou abonnement)
16. Ni P, Xue L, Cai J, Wen M, He J. {{Improving visual perspective-taking performance in children with autism spectrum conditions: Effects of embodied self-rotation and object-based mental rotation strategies}}. {Autism};2020 (Aug 27):1362361320949352.
When answering how the same object might appear to others in different locations, people can provide answers by mentally putting themselves into another person’s location using the embodied self-rotation strategy or by rotating the target object toward themselves using the object-based mental rotation strategy. In this study, after learning the embodied self-rotation or object-based mental rotation strategies, autistic children improved their visual perspective-taking performance, which is believed to be impaired or delayed in autistic individuals. We recruited 34 autistic children and an equal number of ability-matched typical children and examined their visual perspective-taking performance at baseline and after learning the embodied self-rotation and object-based mental rotation strategies. As previous visual perspective-taking and other social cognition interventions for autistic individuals have primarily focused on the embodied self-rotation strategy, showing moderate effectiveness and limited generalizability, we explored the effects of both embodied self-rotation and object-based mental rotation strategies for improving perspective-taking performance and discussed their implications in this study. The results showed that autistic children had a lower performance at baseline compared with typical children; however, they were still sensitive to both embodied self-rotation and object-based mental rotation strategies. Unlike typical children, who gained more from the embodied self-rotation strategy, autistic children benefited similarly from the two strategies. This suggests that there are multiple ways to helping autistic children overcome their difficulty in perspective-taking tasks. Future interventions for autistic children could consider combining various strategies that better suit their autistic traits.
Lien vers le texte intégral (Open Access ou abonnement)
17. Sparapani N, Solari E, Towers L, McIntyre N, Henry A, Zajic M. {{Secondary Analysis of Reading-Based Activities Utilizing a Scripted Language Approach: Evaluating Interactions Between Students With Autism and Their Interventionists}}. {J Speech Lang Hear Res};2020 (Aug 28):1-23.
Students with autism spectrum disorder (ASD) often exhibit challenges with reading development. Evidence-based interventions and specialized approaches to reading instruction are currently being implemented across educational contexts for learners with ASD (Machalicek et al., 2008), yet there is limited understanding of how core ASD features may impact effective delivery of instruction and student participation. We begin to address this need by evaluating the reciprocity between instructional talk and student participation within a reading intervention utilizing a scripted language approach that was being piloted on students with ASD. Method This study used archival video-recorded observations from the beginning of a reading intervention to examine the interactions between 20 students (18 boys, two girls) with ASD (7-11 years old, M = 9.10, SD = 1.74) and their interventionists (n = 7). Lag sequential analysis was used to examine the frequency of student initiations and responses following the interventionists’ use of responsive, open-ended, closed-ended, and directive language. Results Findings describe the types of and illustrate the variability in interactions between students and their interventionists, as well as highlight language categories that are linked to student participation. Conclusions These data provide a snapshot of the nature and quality of interactions between students with ASD and their interventionists. Findings suggest that delivery of instruction, including the language that interventionists use, may be an important area of focus when evaluating the effectiveness of reading-based practices across educational settings for learners with ASD, even within the confines of highly structured interventions.
Lien vers le texte intégral (Open Access ou abonnement)
18. Wang JY. {{Using an Isogenic Human Pluripotent Stem Cell Model for Better Understanding Neurodevelopmental Defects in Fragile X Syndrome}}. {Biol Psychiatry};2020 (Sep 15);88(6):e25-e27.
Lien vers le texte intégral (Open Access ou abonnement)
19. Williams ZJ, Everaert J, Gotham KO. {{Measuring Depression in Autistic Adults: Psychometric Validation of the Beck Depression Inventory-II}}. {Assessment};2020 (Aug 29):1073191120952889.
Depressive disorders are common in autistic adults, but few studies have examined the extent to which common depression questionnaires are psychometrically appropriate for use in this population. Using item response theory, this study examined the psychometric properties of the Beck Depression Inventory-II (BDI-II) in a sample of 947 autistic adults. BDI-II latent trait scores exhibited strong reliability, construct validity, and moderate ability to discriminate between depressed and nondepressed adults on the autism spectrum (area under the receiver operating characteristic curve = 0.796 [0.763, 0.826], sensitivity = 0.820 [0.785, 0.852], specificity = 0.653 [0.601, 0.699]). These results collectively indicate that the BDI-II is a valid measure of depressive symptoms in autistic adults, appropriate for quantifying depression severity in research studies or screening for depressive disorders in clinical settings. A free online score calculator has been created to facilitate the use of BDI-II latent trait scores for clinical and research applications (available at https://asdmeasures.shinyapps.io/bdi_score/).
Lien vers le texte intégral (Open Access ou abonnement)
20. Zhang ZC, Han J. {{The First National Prevalence of Autism Spectrum Disorder in China}}. {Neurosci Bull};2020 (Aug 29)
