1. Bono V, Narzisi A, Jouen AL, Tilmont E, Hommel S, Jamal W, Xavier J, Billeci L, Maharatna K, Wald M, Chetouani M, Cohen D, Muratori F, Group MS. {{GOLIAH: A Gaming Platform for Home-Based Intervention in Autism – Principles and Design}}. {Frontiers in psychiatry}. 2016;7:70.
Children with Autism need intensive intervention and this is challenging in terms of manpower, costs, and time. Advances in Information Communication Technology and computer gaming may help in this respect by creating a nomadically deployable closed-loop intervention system involving the child and active participation of parents and therapists. An automated serious gaming platform enabling intensive intervention in nomadic settings has been developed by mapping two pivotal skills in autism spectrum disorder: Imitation and Joint Attention (JA). Eleven games – seven Imitations and four JA – were derived from the Early Start Denver Model. The games involved application of visual and audio stimuli with multiple difficulty levels and a wide variety of tasks and actions pertaining to the Imitation and JA. The platform runs on mobile devices and allows the therapist to (1) characterize the child’s initial difficulties/strengths, ensuring tailored and adapted intervention by choosing appropriate games and (2) investigate and track the temporal evolution of the child’s progress through a set of automatically extracted quantitative performance metrics. The platform allows the therapist to change the game or its difficulty levels during the intervention depending on the child’s progress. Performance of the platform was assessed in a 3-month open trial with 10 children with autism (Trial ID: NCT02560415, Clinicaltrials.gov). The children and the parents participated in 80% of the sessions both at home (77.5%) and at the hospital (90%). All children went through all the games but, given the diversity of the games and the heterogeneity of children profiles and abilities, for a given game the number of sessions dedicated to the game varied and could be tailored through automatic scoring. Parents (N = 10) highlighted enhancement in the child’s concentration, flexibility, and self-esteem in 78, 89, and 44% of the cases, respectively, and 56% observed an enhanced parents-child relationship. This pilot study shows the feasibility of using the developed gaming platform for home-based intensive intervention. However, the overall capability of the platform in delivering intervention needs to be assessed in a bigger open trial.
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2. Di Giorgio E, Frasnelli E, Rosa Salva O, Maria Luisa S, Puopolo M, Tosoni D, Network N, Simion F, Vallortigara G. {{Difference in Visual Social Predispositions Between Newborns at Low- and High-risk for Autism}}. {Scientific reports}. 2016;6:26395.
Some key behavioural traits of Autism Spectrum Disorders (ASD) have been hypothesized to be due to impairments in the early activation of subcortical orienting mechanisms, which in typical development bias newborns to orient to relevant social visual stimuli. A challenge to testing this hypothesis is that autism is usually not diagnosed until a child is at least 3 years old. Here, we circumvented this difficulty by studying for the very first time, the predispositions to pay attention to social stimuli in newborns with a high familial risk of autism. Results showed that visual preferences to social stimuli strikingly differed between high-risk and low-risk newborns. Significant predictors for high-risk newborns were obtained and an accurate biomarker was identified. The results revealed early behavioural characteristics of newborns with familial risk for ASD, allowing for a prospective approach to the emergence of autism in early infancy.
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3. Dolen G, Sahin M. {{Editorial: Essential Pathways and Circuits of Autism Pathogenesis}}. {Frontiers in neuroscience}. 2016;10:182.
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4. Dunkel-Jackson SM, Dixon MR, Szekely S. {{Self-control as generalized operant behavior by adults with autism spectrum disorder}}. {Journal of applied behavior analysis}. 2016 May 14.
The present investigation attempted to teach self-control to 3 adults who had been diagnosed with autism spectrum disorder. Using a self-control training procedure that coupled a gradual fading of delay to access a large delayed reinforcer with a concurrent work requirement, each participant was exposed to conditions in which baseline levels of choices for large delayed reinforcers and task engagement increased 10-fold. Furthermore, generalization effects were partially demonstrated in a novel context.
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5. Ewen JB, Lakshmanan BM, Pillai AS, McAuliffe D, Nettles C, Hallett M, Crone NE, Mostofsky SH. {{Decreased Modulation of EEG Oscillations in High-Functioning Autism during a Motor Control Task}}. {Frontiers in human neuroscience}. 2016;10:198.
Autism spectrum disorders (ASD) are thought to result in part from altered cortical excitatory-inhibitory balance; this pathophysiology may impact the generation of oscillations on electroencephalogram (EEG). We investigated premotor-parietal cortical physiology associated with praxis, which has strong theoretical and empirical associations with ASD symptomatology. Twenty five children with high-functioning ASD (HFA) and 33 controls performed a praxis task involving the pantomiming of tool use, while EEG was recorded. We assessed task-related modulation of signal power in alpha and beta frequency bands. Compared with controls, subjects with HFA showed 27% less left central (motor/premotor) beta (18-22 Hz) event-related desynchronization (ERD; p = 0.030), as well as 24% less left parietal alpha (7-13 Hz) ERD (p = 0.046). Within the HFA group, blunting of central ERD attenuation was associated with impairments in clinical measures of praxis imitation (r = -0.4; p = 0.04) and increased autism severity (r = 0.48; p = 0.016). The modulation of central beta activity is associated, among other things, with motor imagery, which may be necessary for imitation. Impaired imitation has been associated with core features of ASD. Altered modulation of oscillatory activity may be mechanistically involved in those aspects of motor network function that relate to the core symptoms of ASD.
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6. Gori S, Molteni M, Facoetti A. {{Visual Illusions: An Interesting Tool to Investigate Developmental Dyslexia and Autism Spectrum Disorder}}. {Frontiers in human neuroscience}. 2016;10:175.
A visual illusion refers to a percept that is different in some aspect from the physical stimulus. Illusions are a powerful non-invasive tool for understanding the neurobiology of vision, telling us, indirectly, how the brain processes visual stimuli. There are some neurodevelopmental disorders characterized by visual deficits. Surprisingly, just a few studies investigated illusory perception in clinical populations. Our aim is to review the literature supporting a possible role for visual illusions in helping us understand the visual deficits in developmental dyslexia and autism spectrum disorder. Future studies could develop new tools – based on visual illusions – to identify an early risk for neurodevelopmental disorders.
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7. Green Snyder L, D’Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E, Simons VIPc. {{Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication}}. {Journal of autism and developmental disorders}. 2016 May 21.
The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.
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8. Heys M, Alexander A, Medeiros E, Tumbahangphe KM, Gibbons F, Shrestha R, Manandhar M, Wickenden M, Shrestha M, Costello A, Manandhar D, Pellicano E. {{Understanding parents’ and professionals’ knowledge and awareness of autism in Nepal}}. {Autism : the international journal of research and practice}. 2016 May 19.
Autism is a global phenomenon. Yet, there is a dearth of knowledge of how it is understood and its impact in low-income countries. We examined parents’ and professionals’ understanding of autism in one low-income country, Nepal. We conducted focus groups and semi-structured interviews with parents of autistic and non-autistic children and education and health professionals from urban and rural settings (n = 106), asking questions about typical and atypical development and presenting vignettes of children to prompt discussion. Overall, parents of typically developing children and professionals had little explicit awareness of autism. They did, however, use some distinctive terms to describe children with autism from children with other developmental conditions. Furthermore, most participants felt that environmental factors, including in-utero stressors and birth complications, parenting style and home or school environment were key causes of atypical child development and further called for greater efforts to raise awareness and build community capacity to address autism. This is the first study to show the striking lack of awareness of autism by parents and professionals alike. These results have important implications for future work in Nepal aiming both to estimate the prevalence of autism and to enhance support available for autistic children and their families.
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9. Jao Keehn RJ, Sanchez SS, Stewart CR, Zhao W, Grenesko-Stevens EL, Keehn B, Muller RA. {{Impaired downregulation of visual cortex during auditory processing is associated with autism symptomatology in children and adolescents with autism spectrum disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2016 May 20.
Autism spectrum disorders (ASD) are pervasive developmental disorders characterized by impairments in language development and social interaction, along with restricted and stereotyped behaviors. These behaviors often include atypical responses to sensory stimuli; some children with ASD are easily overwhelmed by sensory stimuli, while others may seem unaware of their environment. Vision and audition are two sensory modalities important for social interactions and language, and are differentially affected in ASD. In the present study, 16 children and adolescents with ASD and 16 typically developing (TD) participants matched for age, gender, nonverbal IQ, and handedness were tested using a mixed event-related/blocked functional magnetic resonance imaging paradigm to examine basic perceptual processes that may form the foundation for later-developing cognitive abilities. Auditory (high or low pitch) and visual conditions (dot located high or low in the display) were presented, and participants indicated whether the stimuli were « high » or « low. » Results for the auditory condition showed downregulated activity of the visual cortex in the TD group, but upregulation in the ASD group. This atypical activity in visual cortex was associated with autism symptomatology. These findings suggest atypical crossmodal (auditory-visual) modulation linked to sociocommunicative deficits in ASD, in agreement with the general hypothesis of low-level sensorimotor impairments affecting core symptomatology. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Lee JM, Kyeong S, Kim E, Cheon KA. {{Abnormalities of Inter- and Intra-Hemispheric Functional Connectivity in Autism Spectrum Disorders: A Study Using the Autism Brain Imaging Data Exchange Database}}. {Frontiers in neuroscience}. 2016;10:191.
Recently, the Autism Brain Imaging Data Exchange (ABIDE) project revealed decreased functional connectivity in individuals with Autism Spectrum Disorders (ASD) relative to the typically developing controls (TDCs). However, it is still questionable whether the source of functional under-connectivity in subjects with ASD is equally contributed by the ipsilateral and contralateral parts of the brain. In this study, we decomposed the inter- and intra-hemispheric regions and compared the functional connectivity density (FCD) between 458 subjects with ASD and 517 TDCs from the ABIDE database. We quantified the inter- and intra-hemispheric FCDs in the brain by counting the number of functional connectivity with all voxels in the opposite and same hemispheric brain regions, respectively. Relative to TDCs, both inter- and intra-hemispheric FCDs in the posterior cingulate cortex, lingual/parahippocampal gyrus, and postcentral gyrus were significantly decreased in subjects with ASD. Moreover, in the ASD group, the restricted and repetitive behavior subscore of the Autism Diagnostic Observation Schedule (ADOS-RRB) score showed significant negative correlations with the average inter-hemispheric FCD and contralateral FCD in the lingual/parahippocampal gyrus cluster. Also, the ADOS-RRB score showed significant negative correlations with the average contralateral FCD in the default mode network regions such as the posterior cingulate cortex and precuneus. Taken together, our findings imply that a deficit of non-social functioning processing in ASD such as restricted and repetitive behaviors and sensory hypersensitivity could be determined via both inter- and intra-hemispheric functional disconnections.
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11. Novacek DM, Gooding DC, Pflum MJ. {{Hedonic Capacity in the Broader Autism Phenotype: Should Social Anhedonia Be Considered a Characteristic Feature?}}. {Frontiers in psychology}. 2016;7:666.
Impairments in social motivational processes may partially explain the differences in social interaction seen among individuals with autism spectrum disorder (ASD). The social motivation hypothesis would predict an association between reduced hedonic capacity and ASD. However, to date, findings have been mixed regarding hedonic deficits among individuals with ASD; adults report lower levels of both social and physical pleasure whereas adolescents only report experiencing lower social pleasure. Moreover, very few studies examining the association between anhedonia and autistic traits have used measures of hedonic response or taken temporal aspects of pleasure into account. The present study examined associations between autistic traits and the experience of pleasure using a non-clinical sample of young adults to further clarify the nature of hedonic deficits in the broader autism phenotype (BAP). Results revealed that autistic traits were negatively associated with both the experience of social pleasure as well as general pleasure, although the association was stronger for social pleasure. Regression analyses revealed that reduced social pleasure was a better predictor of autistic traits than general pleasure. Together these findings suggest that reduced social hedonic capacity is associated with autistic traits in the general population and should be included in conceptualizations of the BAP.
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12. Robinson S, Howlin P, Russell A. {{Personality traits, autobiographical memory and knowledge of self and others: A comparative study in young people with autism spectrum disorder}}. {Autism : the international journal of research and practice}. 2016 May 19.
The relationship between dissociable components of autobiographical memory (e.g. semantic personality traits and episodic memory retrieval) and other cognitive skills that are proposed to enable one to develop a sense of self (e.g. introspection) have not previously been explored for children with autism spectrum disorder. This study compared autobiographical memory (semantic and episodic) and knowledge of self (internal/external self-knowledge and introspection/mentalising abilities) in children (aged 11-18 years) with high-functioning autism spectrum disorder and typically developing controls (total N = 48). Novel and standard tasks were employed. Compared to typically developing controls, young people with autism spectrum disorder had autobiographical memory difficulties that were characterised by a reduction in the retrieval of semantic personality traits, with more initial prompts required to facilitate episodic memory retrieval and fewer episodic memories containing emotional and sensory information. Knowledge of the self and others was also impaired, with reduced introspection and poorer mentalising abilities. Young people with autism spectrum disorder were also identified as presenting with an atypical relationship between autobiographical memory and self-knowledge, which was significantly different from typically developing controls. Test performance is discussed in relation to the functions of autobiographical memory, with consideration of how these cognitive difficulties may contribute to clinical practices and the social and behavioural characteristics of autism spectrum disorder.
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13. Terzi A, Marinis T, Francis K. {{The Interface of Syntax with Pragmatics and Prosody in Children with Autism Spectrum Disorders}}. {Journal of autism and developmental disorders}. 2016 May 21.
In order to study problems of individuals with Autism Spectrum Disorders (ASD) with morphosyntax, we investigated twenty high-functioning Greek-speaking children (mean age: 6;11) and twenty age- and language-matched typically developing children on environments that allow or forbid object clitics or their corresponding noun phrase. Children with ASD fell behind typically developing children in comprehending and producing simple clitics and producing noun phrases in focus structures. The two groups performed similarly in comprehending and producing clitics in clitic left dislocation and in producing noun phrases in non-focus structures. We argue that children with ASD have difficulties at the interface of (morpho)syntax with pragmatics and prosody, namely, distinguishing a discourse prominent element, and considering intonation relevant for a particular interpretation that excludes clitics.
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14. Zamoscik V, Mier D, Schmidt SN, Kirsch P. {{Early Memories of Individuals on the Autism Spectrum Assessed Using Online Self-Reports}}. {Frontiers in psychiatry}. 2016;7:79.
« When I was one and a half years old, I was on a ferry lying on red seats » – while several autobiographical accounts by people with autism reveal vivid memories of early childhood, the vast amount of experimental investigations found deficits in personal autobiographic memory in autism. To assess this contradiction empirically, we implemented an online questionnaire on early childhood events to compare people on the autism spectrum (AS) and non-autistic people with respect to their earliest autobiographical episodic memories and the earliest semantic know event as told by another person. Results indicate that people on the AS do not differ from non-autistic people in the age of their earliest know events but remember events from an earlier age in childhood and with more sensory details, contradicting the assumption of an overall deficit in personal episodic memory in autism. Furthermore, our results emphasize the supporting influence of language for memory formation and give evidence for an important role of sensory features in memories of people on the AS.
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15. Ziats MN, Rennert OM. {{The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder}}. {Frontiers in genetics}. 2016;7:65.
The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The prevalence of ASD is rising, and the diagnostic criteria and clinical perspectives on the disorder continue to evolve in parallel. Although the majority of individuals with ASD will not have an identifiable genetic cause, almost 25% of cases have identifiable causative DNA variants. The rapidly improving ability to identify genetic mutations because of advances in next generation sequencing, coupled with previous epidemiological studies demonstrating high heritability of ASD, have led to many recent attempts to identify causative genetic mutations underlying the ASD phenotype. However, although hundreds of mutations have been identified to date, they are either rare variants affecting only a handful of ASD patients, or are common variants in the general population conferring only a small risk for ASD. Furthermore, the genes implicated thus far are heterogeneous in their structure and function, hampering attempts to understand shared molecular mechanisms among all ASD patients; an understanding that is crucial for the development of targeted diagnostics and therapies. However, new work is beginning to suggest that the heterogeneous set of genes implicated in ASD may ultimately converge on a few common pathways. In this review, we discuss the parallel evolution of our diagnostic and genetic understanding of autism spectrum disorders, and highlight recent attempts to infer common biology underlying this complicated syndrome.
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16. Zupan B, Sharma A, Frazier A, Klein S, Toth M. {{Programming social behavior by the maternal fragile X protein}}. {Genes, brain, and behavior}. 2016 May 20.
The developing fetus and neonate are highly sensitive to maternal environment. Besides the well-documented effects of maternal stress, nutrition and infections, maternal mutations, by altering the fetal, perinatal and/or early postnatal environment, can impact the behavior of genetically normal offspring. Mutation/premutation in the X linked FMR1 (encoding the translational regulator FMRP) in females, although primarily responsible for causing fragile X syndrome (FXS) in their children, may also elicit such maternal effects. We demonstrated in mice that a deficit in maternal FMRP results in hyperactivity in the genetically normal offspring. To test if maternal FMRP has a broader intergenerational effect, we measured social behavior, a core dimension of neurodevelopmental disorders, in males of FMRP-deficient dams. We found that male offspring of Fmr1+/- mothers, independent of their own Fmr1 genotype, exhibit increased approach and reduced avoidance toward conspecific strangers, reminiscent of « indiscriminate friendliness », or the lack of stranger anxiety, diagnosed in neglected children and in patients with Asperger’s and Williams syndrome. Furthermore, social interaction failed to activate mesolimbic/amygdala regions, encoding social aversion, in these mice, providing a neurobiological basis for the behavioral abnormality. This work identifies a novel role for FMRP that extends its function beyond the well-established genetic function into intergenerational non-genetic inheritance/programming of social behavior and the corresponding neuronal circuit. As FXS premutation and some psychiatric conditions that can be associated with reduced FMRP expression are more prevalent in mothers than full FMR1 mutation, our findings potentially broaden the significance of FMRP-dependent programming of social behavior beyond the FXS population.
