1. Alvares GA, Balleine BW, Whittle L, Guastella AJ. {{Reduced goal-directed action control in autism spectrum disorder}}. {Autism Res}. 2016.
Autism spectrum disorder (ASD) is a group of heterogeneous neurodevelopmental conditions associated with persistent, stereotyped or repetitive actions, and patterns of interest that are maintained in spite of possible negative outcomes. The aim of the present study was to investigate whether impairments in the ability to execute flexible goal-directed actions may be an underlying feature in ASD contributing to these symptoms. Young adults diagnosed with ASD were recruited along with controls and adults with social anxiety disorder (SAD). Participants were trained to make keyboard actions for food outcomes and then subsequently allowed to consume one outcome till satiety. As expected, this outcome devaluation procedure reduced subsequent responding for actions predicting the devalued outcome, while maintaining responding on the other still-valued action, in controls. However, both ASD and SAD participants were unable to demonstrate flexible goal-directed actions, and were insensitive to the change in outcome value on subsequent action control. This behavioral deficit was not due to impairments in appropriate contingency awareness, as all groups rated the devalued food outcome as less pleasant after devaluation. A lack of control over actions may underlie persistent and habitual actions in anxiety-inducing contexts typical in both ASD and SAD, such as avoidance and safety behaviors. Using a translational behavioral paradigm, this study demonstrated that individuals with ASD are unable to use changes in the environment to flexibly update their behavior in the same context. This reduced behavioral control may underlie persistence of intrusive actions and restricted inflexible cognition, representing a specific area for targeted behavioral interventions. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Ben-Itzchak E, Abutbul S, Bela H, Shai T, Zachor DA. {{Understanding One’s Own Emotions in Cognitively-Able Preadolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2016.
There are still no straightforward answers as to whether understanding one’s own emotions is impaired in autism spectrum disorder (ASD). This study evaluated the perception of one’s own different emotions, based on the relevant section of the Autism Diagnostic Observation Schedule Module 3 test. Forty boys, aged 8-11 years, 20 diagnosed with ASD (IQ >/= 85) and 20 typically developing children were included. Description of events that elicited specific emotions in ASD was characterized by more ‘odd’ statements and ‘no responses’ and less use of content related to ‘social situations’, ‘interpersonal’ and ‘self-awareness’. More ‘no responses’ and odd statements were associated with the severity of ASD symptoms. Clinicians should be aware of these differentiating factors during the diagnostic process of ASD.
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3. Charrier A, Tardif C, Gepner B. {{[Slowing down the flow of facial information enhances facial scanning in children with autism spectrum disorders: A pilot eye tracking study]}}. {Encephale}. 2016.
OBJECTIVE: Face and gaze avoidance are among the most characteristic and salient symptoms of autism spectrum disorders (ASD). Studies using eye tracking highlighted early and lifelong ASD-specific abnormalities in attention to face such as decreased attention to internal facial features. These specificities could be partly explained by disorders in the perception and integration of rapid and complex information such as that conveyed by facial movements and more broadly by biological and physical environment. Therefore, we wish to test whether slowing down facial dynamics may improve the way children with ASD attend to a face. METHODS: We used an eye tracking method to examine gaze patterns of children with ASD aged 3 to 8 (n=23) and TD controls (n=29) while viewing the face of a speaker telling a story. The story was divided into 6 sequences that were randomly displayed at 3 different speeds, i.e. a real-time speed (RT), a slow speed (S70=70% of RT speed), a very slow speed (S50=50% of RT speed). S70 and S50 were displayed thanks to software called Logiral, aimed at slowing down visual and auditory stimuli simultaneously and without tone distortion. The visual scene was divided into four regions of interest (ROI): eyes region; mouth region; whole face region; outside the face region. The total time, number and mean duration of visual fixations on the whole visual scene and the four ROI were measured between and within the two groups. RESULTS: Compared to TD children, children with ASD spent significantly less time attending to the visual scenes and, when they looked at the scene, they spent less time scanning the speaker’s face in general and her mouth in particular, and more time looking outside facial area. Within the ASD group mean duration of fixation increased on the whole scene and particularly on the mouth area, in R50 compared to RT. Children with mild autism spent more time looking at the face than the two other groups of ASD children, and spent more time attending to the face and mouth as well as longer mean duration of visual fixation on mouth and eyes, at slow speeds (S50 and/or S70) than at RT one. CONCLUSIONS: Slowing down facial dynamics enhances looking time on face, and particularly on mouth and/or eyes, in a group of 23 children with ASD and particularly in a small subgroup with mild autism. Given the crucial role of reading the eyes for emotional processing and that of lip-reading for language processing, our present result and other converging ones could pave the way for novel socio-emotional and verbal rehabilitation methods for autistic population. Further studies should investigate whether increased attention to face and particularly eyes and mouth is correlated to emotional/social and/or verbal/language improvements.
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4. Chen SF, Chien YL, Wu CT, Shang CY, Wu YY, Gau SS. {{Deficits in executive functions among youths with autism spectrum disorders: an age-stratified analysis}}. {Psychol Med}. 2016: 1-14.
BACKGROUND: Impaired executive function (EF) is suggested to be one of the core features in individuals with autism spectrum disorders (ASD); however, little is known about whether the extent of worse EF in ASD than typically developing (TD) controls is age-dependent. We used age-stratified analysis to reveal this issue. METHOD: We assessed 111 youths with ASD (aged 12.5 +/- 2.8 years, male 94.6%) and 114 age-, and sex-matched TD controls with Digit Span and four EF tasks of the Cambridge Neuropsychological Test Automated Battery (CANTAB): Spatial Span (SSP), Spatial Working Memory (SWM), Stockings of Cambridge (SOC), and Intradimensional/Extradimensional Shift Test (I/ED). RESULTS: Compared to TD controls, youths with ASD performed poorer on the Digit Span, SWM, SOC, and I/ED tasks. The performance of all the tasks improved with age for both groups. Age-stratified analyses were conducted due to significant age x group interactions in visuospatial planning (SOC) and set-shifting (I/ED) and showed that poorer performance on these two tasks in ASD than TD controls was found only in the child (aged 8-12 years) rather than the adolescent (aged 13-18 years) group. By contrast, youths with ASD had impaired working memory, regardless of age. The increased magnitude of group difference in visuospatial planning (SOC) with increased task demands differed between the two age groups but no age moderating effect on spatial working memory. CONCLUSIONS: Our findings support deficits in visuospatial working memory and planning in youths with ASD; however, worse performance in set-shifting may only be demonstrated in children with ASD.
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5. Killian JT, Jr., Lane JB, Lee HS, Pelham JH, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. {{Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors}}. {Pediatr Neurol}. 2016.
OBJECTIVE: Rett syndrome is a severe neurodevelopmental disorder affecting approximately one in 10,000 female births. The clinical features of Rett syndrome are known to impact both patients’ and caretakers’ quality of life in Rett syndrome. We hypothesized that more severe clinical features would negatively impact caretaker physical quality of life but would positively impact caretaker mental quality of life. METHODS: Participants were individuals enrolled in the Rett Natural History Study with a diagnosis of classic Rett syndrome. Demographic data, clinical disease features, caretaker quality of life, and measures of family function were assessed during clinic visits. The Optum SF-36v2 Health Survey was used to assess caretaker physical and mental quality of life (higher scores indicate better quality of life). Descriptive, univariate, and multivariate analyses were used to characterize relationships between child and caretaker characteristics and caretaker quality of life. RESULTS: Caretaker physical component scores (PCS) were higher than mental component scores (MCS): 52.8 (9.7) vs 44.5 (12.1). No differences were demonstrated between the baseline and 5-year follow-up. In univariate analyses, disease severity was associated with poorer PCS (P = 0.006) and improved MCS (P = 0.003). Feeding problems were associated with poorer PCS (P = 0.007) and poorer MCS (P = 0.018). In multivariate analyses, limitations in caretaker personal time and home conflict adversely affected PCS. Feeding problems adversely impacted MCS. CONCLUSIONS: Caretaker quality of life in Rett syndrome is similar to that for caretakers in other chronic diseases. Disease characteristics significantly impact quality of life, and feeding difficulties may represent an important clinical target for improving both child and caretaker quality of life. The stability of quality-of-life scores between baseline and five years adds important value.
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6. Kok FM, Groen Y, Becke M, Fuermaier AB, Tucha O. {{Self-Reported Empathy in Adult Women with Autism Spectrum Disorders – A Systematic Mini Review}}. {PLoS One}. 2016; 11(3): e0151568.
INTRODUCTION: There is limited research on Autism Spectrum Disorders (ASD) in females. Although the empathy construct has been examined thoroughly in autism, little attention has been paid to empathy in adult women with this condition or to gender differences within the disorder. OBJECTIVE: Self-reported empathy in adult women with ASD was examined and compared to that of typically developed men and women as well as to men with this condition. METHODS: Online databases were searched for articles investigating self-reported empathy among adult women with ASD. Only six studies comparing women to men were identified. RESULTS: All studies found women with an ASD to report lower levels of empathy than typically developed women, and typically developed men, but similar levels to men with this condition. CONCLUSION: The self-reported empathic ability of women diagnosed with ASD resembles that of their male counterparts most closely; they show a hypermasculinisation in empathy. This is particularly surprising considering the large gender difference in empathy in the general population. DISCUSSION: One of the limitations of this review is that the current diagnostic criteria for ASD are oriented towards male-specific behaviour and fail to integrate gender specific characteristics. Hence, women diagnosed with ASD are likely to be at the male end of the continuum. The suggested hypermasculinisation of women on the spectrum, as evident from this review, may therefore be exaggerated due to a selection bias.
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7. McDonald NM, Baker JK, Messinger DS. {{Oxytocin and Parent-Child Interaction in the Development of Empathy Among Children at Risk for Autism}}. {Dev Psychol}. 2016.
This longitudinal study investigated whether variation in the oxytocin receptor gene (OXTR) and early parent-child interactions predicted later empathic behavior in 84 toddlers at high or low familial risk for autism spectrum disorder. Two well-studied OXTR single-nucleotide polymorphisms, rs53576 and rs2254298, were examined. Parent-child interaction was measured at 15 and 18 months of age during free play sessions. Empathy was measured at 24 and 30 months using a response to parental distress paradigm. While there was no direct association between parent-child interaction quality or OXTR and empathy, rs53576 moderated the relation between interaction quality and empathy. Results suggest that the interplay between OXTR and early parent-child interactions predicts individual differences in empathy in children at varying risk for atypical social development. Findings are consonant with a differential susceptibility model in which an OXTR variant may increase the social salience of interaction processes for specific allele carriers. These results increase our understanding of predictors of empathy development in young children with a wide range of social outcomes. (PsycINFO Database Record
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8. Robinson EB, St Pourcain B, Anttila V, Kosmicki JA, Bulik-Sullivan B, Grove J, Maller J, Samocha KE, Sanders SJ, Ripke S, Martin J, Hollegaard MV, Werge T, Hougaard DM, Neale BM, Evans DM, Skuse D, Mortensen PB, Borglum AD, Ronald A, Smith GD, Daly MJ. {{Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population}}. {Nat Genet}. 2016.
Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of this risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortium and population-based resources (total n > 38,000), we find genome-wide genetic links between ASDs and typical variation in social behavior and adaptive functioning. This finding is evidenced through both LD score correlation and de novo variant analysis, indicating that multiple types of genetic risk for ASDs influence a continuum of behavioral and developmental traits, the severe tail of which can result in diagnosis with an ASD or other neuropsychiatric disorder. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology.
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9. Tuand K, Stijnen P, Volders K, Declercq J, Nuytens K, Meulemans S, Creemers J. {{Nuclear Localization of the Autism Candidate Gene Neurobeachin and Functional Interaction with the NOTCH1 Intracellular Domain Indicate a Role in Regulating Transcription}}. {PLoS One}. 2016; 11(3): e0151954.
BACKGROUND: Neurobeachin (NBEA) is an autism spectrum disorders (ASD) candidate gene. NBEA deficiency affects regulated secretion, receptor trafficking, synaptic architecture and protein kinase A (PKA)-mediated phosphorylation. NBEA is a large multidomain scaffolding protein. From N- to C-terminus, NBEA has a concanavalin A-like lectin domain flanked by armadillo repeats (ACA), an A-kinase anchoring protein domain that can bind to PKA, a domain of unknown function (DUF1088) and a BEACH domain, preceded by a pleckstrin homology-like domain and followed by WD40 repeats (PBW). Although most of these domains mediate protein-protein interactions, no interaction screen has yet been performed. METHODS: Yeast two-hybrid screens with the ACA and PBW domain modules of NBEA gave a list of interaction partners, which were analyzed for Gene Ontology (GO) enrichment. Neuro-2a cells were used for confocal microscopy and nuclear extraction analysis. NOTCH-mediated transcription was studied with luciferase reporter assays and qRT-PCR, combined with NBEA knockdown or overexpression. RESULTS: Both domain modules showed a GO enrichment for the nucleus. PBW almost exclusively interacted with transcription regulators, while ACA interacted with a number of PKA substrates. NBEA was partially localized in the nucleus of Neuro-2a cells, albeit much less than in the cytoplasm. A nuclear localization signal was found in the DUF1088 domain, which was shown to contribute to the nuclear localization of an EGFP-DPBW fusion protein. Yeast two-hybrid identified the Notch1 intracellular domain as a physical interactor of the PBW domain and a role for NBEA as a negative regulator in Notch-mediated transcription was demonstrated. CONCLUSION: Defining novel interaction partners of conserved NBEA domain modules identified a role for NBEA as transcriptional regulator in the nucleus. The physical interaction of NBEA with NOTCH1 is most relevant for ASD pathogenesis because NOTCH signaling is essential for neural development.
