Pubmed du 16/08/19

vendredi 16 août 2019

1. Bothe E, Palermo R, Rhodes G, Burton N, Jeffery L. Expression Recognition Difficulty Is Associated with Social But Not Attention-to-Detail Autistic Traits and Reflects Both Alexithymia and Perceptual Difficulty. J Autism Dev Disord. 2019.

Autistic people often show difficulty with facial expression recognition. However, the degree of difficulty varies widely, which might reflect varying symptom profiles. We examined three domains of autistic traits in the typical population and found that more autistic-like social skills were associated with greater difficulty labelling expressions, and more autistic-like communication was associated with greater difficulty labelling and perceptually discriminating between expressions. There were no associations with autistic-like attention to detail. We also found that labelling, but not perceptual, difficulty was mediated by alexithymia. We found no evidence that labelling or perceptual difficulty was mediated by weakened adaptive coding. Results suggest expression recognition varies between the sub-clinical expressions of autistic symptom domains and reflects both co-occurring alexithymia and perceptual difficulty.

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2. Bozaoglu K, Gao Y, Stanley E, Fanjul-Fernandez M, Brown NJ, Pope K, Green CC, Vlahos K, Sourris K, Bahlo M, Delatycki M, Scheffer I, Lockhart PJ. Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder. Stem cell research. 2019 ; 39 : 101516.

We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Spectrum Disorder (ASD). The reprogramming of the PBMCs was performed using non-integrative Sendai virus containing the reprogramming factors POU5F1 (OCT4), SOX2, KLF4 and MYC. All iPSC lines exhibited a normal karyotype and pluripotency was validated by immunofluorescence, flow cytometry and their ability to differentiate into the three embryonic germ layers. These iPSC lines are a valuable resource to study the molecular mechanisms underlying ASD.

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3. Codina-Sola M, Costa-Roger M, Perez-Garcia D, Flores R, Palacios-Verdu MG, Cusco I, Perez-Jurado LA. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. Journal of medical genetics. 2019.

BACKGROUND : The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We have investigated the genetic factors that could contribute to the ASD phenotype in individuals with WBS. METHODS : We studied four males and four females with WBS and a confirmed diagnosis of ASD by the Autism Diagnostic Interview-Revised. We performed a detailed molecular characterisation of the deletion and searched for genomic variants using exome sequencing. RESULTS : A de novo deletion of 1.55 Mb (6 cases) or 1.83 Mb (2 cases) at 7q11.23 was detected, being in 7/8 patients of paternal origin. No common breakpoint, deletion mechanism or size was found. Two cases were hemizygous for the rare T allele at rs12539160 in MLXIPL, previously associated with ASD. Inherited rare variants in ASD-related or functionally constrained genes and a de novo nonsense mutation in the UBR5 gene were identified in six cases, with higher burden in females compared with males (p=0.016). CONCLUSIONS : The increased susceptibility to ASD in patients with WBS might be due to additive effects of the common WBS deletion, inherited and de novo rare sequence variants in ASD-related genes elsewhere in the genome, with higher burden of deleterious mutations required for females, and possible hypomorphic variants in the hemizygous allele or cis-acting mechanisms on imprinting.

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4. Condy EE, Scarpa A, Friedman BH. Restricted Repetitive Behaviors in Autism Spectrum Disorder : A Systematic Review from the Neurovisceral Integration Perspective. Biological psychology. 2019 : 107739.

The neurovisceral integration model posits that cognitive-behavioral inflexibility arises from biological inflexibility of feedback loops within the central autonomic network. The parasympathetic nervous system (PNS) is integral in this network. Activity of the PNS, which is normally tonically inhibited, can be indexed through respiratory sinus arrhythmia (RSA). When the PNS becomes disinhibited, indicating decreased flexibility within the network, RSA is reduced and cognitive-behavioral flexibility is impaired. Using this theoretical framework, cognitive-behavioral inflexibility is discussed from the Research Domain Criteria (RDoC) perspective. Restricted repetitive behaviors in autism spectrum disorder (ASD) are proposed as exemplars of cognitive-behavioral inflexibility, and behavioral and RSA literature in ASD are reviewed. RSA differences and their relation to inflexibility in ASD are discussed to support the model and to propose RSA as a biomarker for cognitive-behavioral inflexibility. Considerations for future research are discussed, in addition to implications the model might have on assessment and transdiagnostic treatment practices.

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5. Dickinson A, Varcin KJ, Sahin M, Nelson CA, 3rd, Jeste SS. Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex. Autism Res. 2019.

Tuberous sclerosis complex (TSC) is a rare genetic disorder that confers a high risk for autism spectrum disorders (ASD), with behavioral predictors of ASD emerging early in life. Deviations in structural and functional neural connectivity are highly implicated in both TSC and ASD. For the first time, we explore whether electroencephalographic (EEG) measures of neural network function precede or predict the emergence of ASD in TSC. We determine whether altered brain function (a) is present in infancy in TSC, (b) differentiates infants with TSC based on ASD diagnostic status, and (c) is associated with later cognitive function. We studied 35 infants with TSC (N = 35), and a group of typically developing infants (N = 20) at 12 and 24 months of age. Infants with TSC were later subdivided into ASD and non-ASD groups based on clinical evaluation. We measured features of spontaneous alpha oscillations (6-12 Hz) that are closely associated with neural network development : alpha power, alpha phase coherence (APC), and peak alpha frequency (PAF). Infants with TSC demonstrated reduced interhemispheric APC compared to controls at 12 months of age, and these differences were found to be most pronounced at 24 months in the infants who later developed ASD. Across all infants, PAF at 24 months was associated with verbal and nonverbal cognition at 36 months. Associations between early network function and later neurodevelopmental and cognitive outcomes highlight the potential utility of early scalable EEG markers to identify infants with TSC requiring additional targeted intervention initiated very early in life. Autism Res 2019, 00 : 1-16. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Approximately half of infants with tuberous sclerosis complex (TSC) develop autism. Here, using EEG, we find that there is a reduction in communication between brain regions during infancy in TSC, and that the infants who show the largest reductions are those who later develop autism. Being able to identify infants who show early signs of disrupted brain development may improve the timing of early prediction and interventions in TSC, and also help us to understand how early brain changes lead to autism.

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6. Ekas NV, Tidman L, Timmons L. Religiosity/Spirituality and Mental Health Outcomes in Mothers of Children with Autism Spectrum Disorder : The Mediating Role of Positive Thinking. J Autism Dev Disord. 2019.

This study examines associations between dimensions of religiosity/spirituality (R/S) and anxiety symptoms in mothers of children with autism spectrum disorder (ASD). Mothers’ positive ways of thinking and romantic relationship satisfaction were examined as mediators of associations. The extent to which child ASD symptom severity and maternal broad autism phenotype (BAP) behaviors predicted interactions with religious community members was also examined. Seventy-three Christian mothers of a child with ASD completed online surveys. Higher levels of spirituality were associated with viewing their child with ASD as providing a positive contribution to the family. These positive views were, in turn, associated with less anxiety symptoms. Mothers of children with more severe ASD symptoms also reported greater negative interactions with members of their congregation.

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7. Hawkins JR, Weatherby N, Wrye B, Ujcich Ward K. Bergamot Aromatherapy for Medical Office-Induced Anxiety Among Children With an Autism Spectrum Disorder : A Randomized, Controlled, Blinded Clinical Trial. Holistic nursing practice. 2019 ; 33(5) : 285-94.

This randomized, blinded clinical trial evaluated the effects of aromatherapy on medical office-induced anxiety in children with an autism spectrum disorder. Patients awaiting office visits were randomized into an aromatherapy group and a control group. After adjusting for baseline scores, there was no significant difference between the 2 groups.

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8. He Y, Zhou Y, Ma W, Wang J. An integrated transcriptomic analysis of autism spectrum disorder. Sci Rep. 2019 ; 9(1) : 11818.

Autism spectrum disorder (ASD) is not a single disease but a set of disorders. To find clues of ASD pathogenesis in transcriptomic data, we performed an integrated transcriptomic analysis of ASD. After screening based on several standards in Gene Expression Omnibus (GEO) database, we obtained 11 series of transcriptomic data of different human tissues of ASD patients and healthy controls. Multidimensional scaling analysis revealed that datasets from the same tissue had bigger similarity than from different tissues. Functional enrichment analysis demonstrated that differential expressed genes were significantly enriched in inflammation/immune response, mitochondrion-related function and oxidative phosphorylation. Interestingly, genes enriched in inflammation/immune response were up-regulated in the brain tissues and down-regulated in the blood. In addition, drug prediction provided several compounds which might reverse gene expression profiles of ASD patients. And we also replicated the methods and criteria of transcriptomic analysis with datasets of ASD animal models and healthy controls, the results from animal models consolidated the results of transcriptomic analysis of ASD human tissues. In general, the results of our study may provide researchers a new sight of understanding the etiology of ASD and clinicians the possibilities of developing medical therapies.

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9. Iskrov G, Vasilev G, Mitev M, Nikolova R, Stoykova M, Stefanov R. Practice Patterns for Early Screening and Evaluation for Autism Spectrum Disorder Diagnosis in Bulgaria. J Autism Dev Disord. 2019.

The aims of this study were to describe the practice patterns for early screening and evaluation for ASD diagnosis in Bulgaria, as well as to identify potential barriers and facilitators in this process. We surveyed a sample of pediatricians and pediatric psychiatrists to analyze the use of standardized instruments, application of biomarkers, parental collaboration and future policy prospects. We found a significant support for the idea of a national program for ASD in Bulgaria. These insights provide an evidence-based analysis that could help improve services, guide research and inform policies in regard to ASD. Further work is necessary to better understand other stakeholders’ opinions and perspectives, especially those of patients and their families.

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10. Klusek J, Moser C, Schmidt J, Abbeduto L, Roberts JE. A novel eye-tracking paradigm for indexing social avoidance-related behavior in fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet. 2019.

Fragile X syndrome (FXS) is characterized by hallmark features of gaze avoidance, reduced social approach, and social anxiety. The development of therapeutics to manage these symptoms has been hindered, in part, by the lack of sensitive outcome measures. This study investigated the utility of a novel eye-tracking paradigm for indexing social avoidance-related phenotypes. Adolescent/young adult-aged males with FXS (n = 24) and typical development (n = 23) participated in the study. Participants viewed faces displaying direct or averted gaze and the first fixation duration on the eyes was recorded as an index of initial stimulus registration. Fixation durations did not differ across the direction of gaze conditions in either group, although the control group showed longer initial fixations on the eyes relative to the FXS group. Shorter initial fixation on averted gaze in males with FXS was a robust predictor of the severity of their social avoidance behavior exhibited during a social greeting context, whereas parent-reported social avoidance symptoms were not related to performance in the semi-naturalistic context. This eye-tracking paradigm may represent a promising outcome measure for FXS clinical trials because it provides a quantitative index that closely maps onto core social avoidance phenotypes of FXS, can be completed in less than 20 min, and is suitable for use with individuals with low IQ.

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11. Kumari D, Gazy I. Towards Mechanism-Based Treatments for Fragile X Syndrome. Brain Sci. 2019 ; 9(8).

Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000-8000 people worldwide [...].

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12. Latimier A, Kovarski K, Peyre H, Fernandez LG, Gras D, Leboyer M, Zalla T. Trustworthiness and Dominance Personality Traits’ Judgments in Adults with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Autism Spectrum Disorder (ASD) is characterized by impairments in social functioning, communication, and by the presence of repetitive behaviours and restricted interests. Abnormal processing of faces has also been described as a neuropsychological feature of ASD. We investigated the ability to judge two personality traits in adults with ASD in comparison to typically developed adults (TD). We used an eye tracking device to investigate the exploration of faces when participants judged the degree of trustworthiness and dominance of synthetic faces. In sum, we found that adults with ASD were as capable as TD adults to judge personality traits of face trustworthiness and dominance, which relied on similar exploration of the synthetic faces in the two populations.

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13. Liu G, Pearl AM, Kong L, Brown SL, Ba D, Leslie DL, Murray MJ. Risk Factors for Emergency Department Utilization Among Adolescents with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

This study reaffirms our previous work documenting a higher number of Emergency Department (ED) visits by adolescent females with Autism Spectrum Disorder (ASD) as compared to adolescent males with ASD, as well as significantly more ED visits by older adolescents than younger adolescents with ASD. Combined externalizing and internalizing psychiatric co-morbidities as well as internalizing conditions alone predict a higher number of ED visits in this study. Illness severity as demonstrated by patterns of visits to primary care physicians and psychiatric referrals prior to ED visits and the prescription of two or more classes of psychotropic medications also predict higher number of ED visits. Finally, as expected, previous ED visits predict future ED visits. The identification of these factors may prove helpful in determining adequacy of current supports and resources for teens with ASD navigating the challenges of adolescence.

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14. Matheson BE, Drahota A, Boutelle KN. A Pilot Study Investigating the Feasibility and Acceptability of a Parent-Only Behavioral Weight-Loss Treatment for Children with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Evidence-based weight-loss treatments for children with autism spectrum disorder (ASD) are lacking. Therefore, a parent-based weight-loss treatment for children with ASD (PBT-ASD) was developed. A pilot study was conducted to test the initial efficacy, feasibility, and acceptability of this intervention. Parents of 20 children with ASD and overweight/obesity (mean age = 9.90 (SD = 2.31) years ; 90% male ; 40% Hispanic) participated in a 16-session PBT-ASD. The PBT-ASD program was found to be feasible and acceptable. Both children and parents lost weight from pre- to post-treatment (p’s < .05). Parent-reported child physical activity and vegetable consumption increased at post-treatment (p’s < .05). This pilot study provides a proof-of-concept for PBT-ASD. Randomized controlled trials with larger samples and follow-up are needed.

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15. Oner O, Munir KM. Modified Checklist for Autism in Toddlers Revised (MCHAT-R/F) in an Urban Metropolitan Sample of Young Children in Turkey. J Autism Dev Disord. 2019.

The study assessed the feasibility of using a Turkish-version of the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R/F) as a screening tool for an urban low risk population of young children. M-CHAT-R/F was completed for 6712 children between ages 16 and 36 months living in Istanbul, Turkey. Autism Diagnostic Observation Schedule-2 was served as the main measure for diagnosis. M-CHAT-R/F screen was positive for 9.8% of children. At follow up interview, 39.7% of initial screen-positive children met criteria for ASD. The study identified 57 (1 in 117) children with ASD (0.8% ; 95% CI 0.063-1.05%). M-CHAT-R/F performed comparably in Turkey as in United States. Implications of the study for future universal screening for autism in Turkey is also discussed.

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16. Pisula E, Banasiak A. Empowerment in Polish fathers of children with autism and Down syndrome : the role of social support and coping with stress - a preliminary report. J Intellect Disabil Res. 2019.

BACKGROUND : Although empowerment is an important factor in the adaptation of parents of children with intellectual and developmental disabilities, our understanding of empowerment in fathers or how it relates to coping with stress and subjective social support is limited. In Poland, families with children with intellectual and developmental disabilities experience many challenges because of insufficient support. Although parental contribution to developing different forms of services for people with disability is crucial, the potential of fathers is underestimated and poorly understood. METHODS : The study enrolled 35 fathers of children with autism with intellectual disability, 37 fathers of children with Down syndrome and 40 fathers of typically developing children. They completed three questionnaires : Family Empowerment Scale, Ways of Coping Questionnaire and Social Support Questionnaire - Short Form. RESULTS : Compared with other groups, family empowerment was lower in fathers of children with autism. No group differences were found for the service system and community dimensions of empowerment. In the fathers of children with autism, social support was not related to empowerment, but there was a negative correlation between emotional coping and service system. Satisfaction with social support in fathers of children with Down syndrome correlated positively with the community dimension of empowerment. CONCLUSIONS : Results show that fathers of children with autism and intellectual disability require support in family empowerment and that the significance of emotion-focused and problem-focused coping and social support in the context of empowerment differs in fathers of children with autism and Down syndrome. These results should be considered preliminary because of the limited sample size.

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17. Sasson NJ, Morrison KE, Kelsven S, Pinkham AE. Social cognition as a predictor of functional and social skills in autistic adults without intellectual disability. Autism Res. 2019.

Autistic adults, including those without intellectual disability, commonly experience poor social and functional outcomes. Although reduced social cognitive ability in autism is often theorized as a mechanism of these poor outcomes, there has been surprisingly little empirical work testing this assumption. Here, 103 autistic adults without intellectual disability completed a comprehensive battery that included eight social cognitive tasks psychometrically validated for use with this population (e.g., emotion recognition and theory of mind), five tasks assessing neurocognitive abilities (e.g., processing speed and working memory), performance-based measures of their functional skills, and a standardized assessment of their social skills. Collectively, the combination of demographic variables, IQ, neurocognitive performance, and social cognitive performance accounted for 49% of the variance in functional skills and 33% of the variance in social skills. For functional skills, demographic variables, and general and neurocognition independently accounted for a significant portion of the variance, but social cognition did not. Social cognition did, however, significantly mediate the effect of neurocognition on functional skills. Social cognition also accounted for significant proportion in the variance in social skills above and beyond the relatively large contribution of neurocognition. Taken together, findings indicate that social cognitive ability contributes to functional and social skills in autistic adults without intellectual disability, but this contribution may be more limited and indirect than commonly assumed. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Many social programs for autistic adults presume that improving social cognition will translate to better life outcomes. In this study of 103 autistic adults without intellectual disability, we found that social cognitive abilities do contribute to real-world social and daily living skills, but this contribution is small and indirect once general-cognitive abilities are taken into account. Although results substantiate social cognition as an independent cognitive capacity in autism spectrum disorder, its unique contribution to functional and social outcomes may be more limited than previously assumed.

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18. Schnell LK, Vladescu JC, Kisamore AN, DeBar RM, Kahng S, Marano K. Assessment to identify learner-specific prompt and prompt-fading procedures for children with autism spectrum disorder. Journal of applied behavior analysis. 2019.

Few studies have evaluated the use of assessment to identify the most efficient instructional practices for individuals with autism spectrum disorder. This is problematic as these individuals often have difficulty acquiring skills, and the procedures that may be efficient with one individual may not be for others. The experimenters conducted instructional assessments to identify the most efficient prompt type (model, partial physical, full physical) and prompt-fading procedure (progressive delay, most-to-least, least-to-most) for teaching auditory-visual conditional discriminations for individuals with autism spectrum disorder. Each assessment was conducted at least twice, and a final generality test combined the most and the least efficient prompt type and prompt-fading procedure for teaching novel auditory-visual conditional discriminations. The results demonstrated learner-specific outcomes for the prompt type assessment, whereas the least-to-most prompt fading procedure was most efficient for all participants.

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19. Shanok NA, Sotelo M, Hong J. Brief Report : The Utility of a Golf Training Program for Individuals with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by impairments in communication, social interactions, as well as motor functioning. Additionally, individuals with ASD are at a greater risk for health concerns due in part to a more sedentary lifestyle. Therefore, it may be advantageous to introduce more physical activity or sport-based training into autism therapeutic programs. Here, we introduce and evaluate a 6-week, 12 session golf-training program that integrates the teaching of autism-relevant social and communicative skills into each lesson. The results showed that all 46 participants (M = 11.46, SD = 6.21) improved on at least one outcome measure, and statistically significant increases in all measures (communication skills, social skills, motor skills, and regulatory skills) were detected from pre to post. These preliminary findings highlight the utility of an autism-targeted golf training program for all ages ; future studies should seek to replicate this strategy in other settings and using other sports or recreational activities.

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20. VanDam M, Yoshinaga-Itano C. Use of the LENA Autism Screen with Children who are Deaf or Hard of Hearing. Medicina (Kaunas, Lithuania). 2019 ; 55(8).

Background and Objectives : This systematic review reports the evidence from the literature concerning the potential for using an automated vocal analysis, the Language ENvironment Analysis (LENA, LENA Research Foundation, Boulder, CO, USA) in the screening process for children at risk for autism spectrum disorder (ASD) and deaf or hard of hearing (D/HH). ASD and D/HH have increased comorbidity, but current behavioral diagnostic and screening tools have limitations. The LENA Language Autism Screen (LLAS) may offer an additional tool to disambiguate ASD from D/HH in young children. Materials and Methods : We examine empirical reports that use automatic vocal analysis methods to differentiate disordered from typically developing children. Results : Consensus across the sampled scientific literature shows support for use of automatic methods for screening and disambiguation of children with ASD and D/HH. There is some evidence of vocal differentiation between ASD, D/HH, and typically-developing children warranting use of the LLAS, but additional empirical evidence is needed to better understand the strengths and weaknesses of the tool. Conclusions : The findings reported here warrant further, more substantive, methodologically-sound research that is fully powered to show a reliable difference. Findings may be useful for both clinicians and researchers in better identification and understanding of communication disorders.

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21. Zhou P, Zhan L, Ma H. Understanding Others’ Minds : Social Inference in Preschool Children with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

The study used an eye-tracking task to investigate whether preschool children with autism spectrum disorder (ASD) are able to make inferences about others’ behavior in terms of their mental states in a social setting. Fifty typically developing (TD) 4- and 5-year-olds and 22 5-year-olds with ASD participated in the study, where their eye-movements were recorded as automatic responses to given situations. The results show that unlike their TD peers, children with ASD failed to exhibit eye gaze patterns that reflect their ability to infer about others’ behavior by spontaneously encoding socially relevant information and attributing mental states to others. Implications of the findings were discussed in relation to the proposal that implicit/spontaneous Theory of Mind is persistently impaired in ASD.

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