Pubmed du 15/04/19

lundi 15 avril 2019

1. Bobrowska-Korczak B, Gatarek P, Rosiak A, Giebultowicz J, Kaluzna-Czaplinska J. Reduced levels of modified nucleosides in the urine of autistic children. Preliminary studies. Analytical biochemistry. 2019 ; 571 : 62-7.

The aim of this study was to investigate and compare the levels of concentration of modified nucleosides in the urine of autistic and healthy children. The compounds have never been analyzed before. The levels of nucleosides in the urine of both groups were determined by validated high performance liquid chromatography coupled to mass spectrometry (LC-MS/MS) method using multiple reaction monitoring (MRM) mode. Chromatographic separation was achieved with HILIC column and tubercidin was used as the internal standard for the quantification of urinary nucleosides. The within run accuracy and precision ranged from 89 to 106% and from 0.8% to 4.9%, respectively. Lower levels of O-methylguanosine, 7-methylguanosine, 1-methyladenosine, 1-methylguanine, 7-methylguanine and 3-methyladenine in the urine of 22 children with autism, aged 3 to 16 were observed. The differences were not observed in 20 healthy volunteers, in a similar age group. These findings show that modified nucleosides there are metabolic disturbances and nutritional deficiencies in autistic children.

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2. Damianidou D, Foggett J, Wehmeyer ML, Arthur-Kelly M. Features of employment-related technology for people with intellectual and developmental disabilities : A thematic analysis. J Appl Res Intellect Disabil. 2019.

BACKGROUND : The aim of this study was to identify, extract, summarize and list the features of applied cognitive technology used to support employment-related outcomes for people with intellectual and developmental disabilities. METHOD : Thematic analysis was employed on a published research base of 41 studies obtained through a larger scoping review of the literature on the same topic. RESULTS : The thematic analysis identified 109 technology features categorized into 14 main categories of features, which were grouped into three over-arching categories, Output, Input and General Features. The majority of the studies comprised "Output" features with "Audio" features being the most frequent category. Studies using more sophisticated technology incorporated a wider range of features and a larger number of references. CONCLUSIONS : Further investigation regarding the association of specific technology features with the enhancement of various cognitive functions will assist the decision making and technology selection process.

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3. DeStefano F, Shimabukuro TT. The MMR Vaccine and Autism. Annual review of virology. 2019.

Autism is a developmental disability that can cause significant social, communication, and behavioral challenges. A report published in 1998, but subsequently retracted by the journal, suggested that measles, mumps, and rubella (MMR) vaccine causes autism. However, autism is a neurodevelopmental condition that has a strong genetic component with genesis before one year of age, when MMR vaccine is typically administered. Several epidemiologic studies have not found an association between MMR vaccination and autism, including a study that found that MMR vaccine was not associated with an increased risk of autism even among high-risk children whose older siblings had autism. Despite strong evidence of its safety, some parents are still hesitant to accept MMR vaccination of their children. Decreasing acceptance of MMR vaccination has led to outbreaks or resurgence of measles. Health-care providers have a vital role in maintaining confidence in vaccination and preventing suffering, disability, and death from measles and other vaccine-preventable diseases. Expected final online publication date for the Annual Review of Virology Volume 6 is September 30, 2019. Please see for revised estimates.

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4. Fu Z, Tu Y, Di X, Du Y, Sui J, Biswal BB, Zhang Z, de Lacy N, Calhoun VD. Transient increased thalamic-sensory connectivity and decreased whole-brain dynamism in autism. Neuroimage. 2019 ; 190 : 191-204.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with social communication deficits and restricted/repetitive behaviors and is characterized by large-scale atypical subcortical-cortical connectivity, including impaired resting-state functional connectivity between thalamic and sensory regions. Previous studies have typically focused on the abnormal static connectivity in ASD and overlooked potential valuable dynamic patterns in brain connectivity. However, resting-state brain connectivity is indeed highly dynamic, and abnormalities in dynamic brain connectivity have been widely identified in psychiatric disorders. In this study, we investigated the dynamic functional network connectivity (dFNC) between 51 intrinsic connectivity networks in 170 individuals with ASD and 195 age-matched typically developing (TD) controls using independent component analysis and a sliding window approach. A hard clustering state analysis and a fuzzy meta-state analysis were conducted respectively, for the exploration of local and global aberrant dynamic connectivity patterns in ASD. We examined the group difference in dFNC between thalamic and sensory networks in each functional state and group differences in four high-dimensional dynamic measures. The results showed that compared with TD controls, individuals with ASD show an increase in transient connectivity between hypothalamus/subthalamus and some sensory networks (right postcentral gyrus, bi paracentral lobule, and lingual gyrus) in certain functional states, and diminished global meta-state dynamics of the whole-brain functional network. In addition, these atypical dynamic patterns are significantly associated with autistic symptoms indexed by the Autism Diagnostic Observation Schedule. These converging results support and extend previous observations regarding hyperconnectivity between thalamic and sensory regions and stable whole-brain functional configuration in ASD. Dynamic brain connectivity may serve as a potential biomarker of ASD and further investigation of these dynamic patterns might help to advance our understanding of behavioral differences in this complex neurodevelopmental disorder.

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5. Hessl D, Schweitzer JB, Nguyen DV, McLennan YA, Johnston C, Shickman R, Chen Y. Cognitive training for children and adolescents with fragile X syndrome : a randomized controlled trial of Cogmed. J Neurodev Disord. 2019 ; 11(1) : 4.

BACKGROUND : Individuals with fragile X syndrome (FXS) typically demonstrate profound executive function (EF) deficits that interfere with learning, socialization, and emotion regulation. We completed the first large, non-pharmacological controlled trial for FXS, designed to evaluate the efficacy of Cogmed, a computer/tablet-based working memory (WM) training program. METHODS : The study was a randomized, blinded, parallel two-arm controlled trial in 100 children and adolescents with FXS (63 male, 37 female ; 15.28 +/- 3.36 yrs.). Participants were randomized equally to adaptive (difficulty level adjusted to performance) or non-adaptive (control) Cogmed training. Participants were assessed at home using objective measures of WM (primary outcome) and EF at baseline, following 20-25 caregiver-supported sessions over 5-6 weeks, and at follow-up 3 months after cessation of training. Parents and teachers provided ratings of WM, attention, and EF. RESULTS : The WM composite and selective domains of EF (distractibility, cognitive flexibility), as well as parent- and teacher-reported attention and EF, significantly improved across the full study sample, with many changes maintained at follow-up. However, comparisons of improvement between adaptive and non-adaptive control conditions did not differ, showing that progressively challenging the WM system by expanding span length did not provide added benefit overall. CONCLUSIONS : Further experimental comparisons are needed before Cogmed working memory training can be considered empirically validated for children with FXS, forming the basis of treatment recommendation. However, given that prior studies show no significant changes on these measures in FXS without treatment, that improvements were maintained for 3 months, and that blinded teachers reported improvements in the classroom, the modest benefits seen in both adaptive and non-adaptive groups overall are unlikely to be attributable to placebo or practice effects alone. Future analyses examining inter-individual differences (e.g., baseline capacity, training efficiency, co-morbidity, training environment, characteristics of training aide) may help to link this intervention to outcomes and potential transfer effects. TRIAL REGISTRATION : US National Institutes of Health (, NCT02747394 .

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6. Hornack SE, Nadler EP, Wang J, Hansen A, Mackey ER. Sleeve Gastrectomy for Youth With Cognitive Impairment or Developmental Disability. Pediatrics. 2019.

BACKGROUND AND OBJECTIVES : Youth with cognitive impairment or developmental disability (CI/DD) face higher rates of obesity and secondary medical issues. Bariatric surgery may be a helpful tool for health improvement because it has been shown efficacious for adolescents. We aim to contribute to literature regarding bariatric surgery for adolescents with CI/DD and explore the association between cognitive functioning and weight loss outcomes. METHODS : Adolescents (N = 64) received a preoperative psychological evaluation, including cognitive assessment, and bariatric surgery at 1 weight loss program between 2010 and 2017. For these adolescents with measured cognitive performance, CI/DD was defined by an IQ <80 or previous diagnosis. In analyses, we compared adolescents with and without CI/DD. Structural equation modeling was used to assess the impact of cognitive functioning on weight loss 3 to 24 months postsurgery. RESULTS : There were no significant differences between adolescents with or without CI/DD in terms of preoperative BMI, age, and sex. Having CI/DD did not significantly impact weight loss or weight loss trajectory in the 2 years after surgery, although modeling revealed a trend toward individuals with CI/DD losing more weight over time. Similarly, intelligence scores did not predict weight loss after surgery. CONCLUSIONS : Bariatric surgery may be a helpful tool for adolescents with severe obesity and CI/DD. They could benefit from the surgery as much as those with typical development, and having CI/DD should not be used as a criterion to deny surgery. Continuing research with this population can be used to determine long-term outcomes in addition to defining best practices.

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7. Jordan-Quintero MI, Ayala Corredor C, Cepeda Torres JF, Porras Chaparro C, Sanchez Arenas VC. Inter-rater Reliability in Videos of Patients With a Suspected Diagnostic of Autism and Child Psychosis. Revista colombiana de psiquiatria. 2019 ; 48(2) : 80-7.

INTRODUCTION : Diagnosing and treating autism and child psychoses is very difficult ; these pathologies impact not only the child’s life but also the family as a whole. Therefore caution is required when giving a diagnosis with prognostic implications. We use the psychodynamic perspective in order to take into consideration both pathological and healthy diagnostic aspects, and to promote evolutionary potential of each patient. OBJECTIVE : To determine the inter-rater reliability and to test quantitatively and qualitatively the variables involved in the diagnoses of patients with suspected autism and child psychoses, based upon psychodynamic concepts. METHODS : An inter-rater reliability study was carried on, based upon the diagnostic evaluation of videos of patients with suspected autism or child psychoses who attended the diagnostic meeting (observation session) at the Instituto de Ortopedia Infantil Roosevelt. RESULTS : Kappa values were obtained, ranging from .24 to .50, with a reliability force varying from slight to moderate, and kappa=.24 for personality organization. This type of diagnosis takes into account both the pathological and healthy aspects which make up personality organization. Finally, limitations and aspects that should be considered in further studies were discussed. CONCLUSIONS : The results reinforce the need to evaluate a child with major disorders in an interdisciplinary team, and but a single observer, in order to allow discussion, and debate, and therefore, avoid partial readings of the patient’ s psychological functioning.

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8. Jung M, Tu Y, Lang CA, Ortiz A, Park J, Jorgenson K, Kong XJ, Kong J. Decreased structural connectivity and resting-state brain activity in the lateral occipital cortex is associated with social communication deficits in boys with autism spectrum disorder. Neuroimage. 2019 ; 190 : 205-12.

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by atypical social communication and repetitive behaviors. In this study, we applied a multimodal approach to investigate brain structural connectivity, resting state activity, and surface area, as well as their associations with the core symptoms of ASD. Data from forty boys with ASD (mean age, 11.5 years ; age range, 5.5-19.5) and forty boys with typical development (TD) (mean age, 12.3 ; age range, 5.8-19.7) were extracted from the Autism Brain Imaging Data Exchange II (ABIDE II) for data analysis. We found significantly decreased structural connectivity, resting state brain activity, and surface area at the occipital cortex in boys with ASD compared to boys with TD. In addition, we found that resting state brain activity and surface area in the lateral occipital cortex was negatively correlated with communication scores in boys with ASD. Our results suggest that decreased structural connectivity and resting-state brain activity in the occipital cortex may impair the integration of verbal and non-verbal communication cues in boys with ASD, thereby impacting their social development.

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9. Lin AY, Henry S, Reissner C, Neupert C, Kenny C, Missler M, Beffert U, Ho A. A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function. Sci Rep. 2019 ; 9(1) : 6024.

MINT2/APBA2 is a synaptic adaptor protein involved in excitatory synaptic transmission. Several nonsynonymous coding variants in MINT2 have been identified in autism spectrum disorders (ASDs) ; however, these rare variants have not been examined functionally and the pathogenic mechanisms are unknown. Here, we examined the synaptic effects of rat Mint2 N723S mutation (equivalent to autism-linked human MINT2 N722S mutation) which targets a conserved asparagine residue in the second PDZ domain of Mint2 that binds to neurexin-1alpha (Nrxn1alpha), a presynaptic cell-adhesion protein implicated in ASDs. We show the N723S mutation impairs Nrxn1alpha stabilization and trafficking to the membrane while binding to Nrxn1alpha remains unaffected. Using time-lapse imaging in primary mouse neurons, we found that the N723S mutant had more immobile puncta at neuronal processes compared to Mint2 wild type. We therefore, reasoned that the N723S mutant may alter the co-transport of Nrxn1alpha at axonal processes to presynaptic terminals. Indeed, we found the N723S mutation affected Nrxn1alpha localization at presynaptic terminals which correlated with a decrease in Nrxn-mediated synaptogenesis and miniature event frequency in excitatory synapses. Together, our data reveal Mint2 N723S leads to neuronal dysfunction, in part due to alterations in Nrxn1alpha surface trafficking and synaptic function of Mint2.

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10. Nunes AS, Peatfield N, Vakorin V, Doesburg SM. Idiosyncratic organization of cortical networks in autism spectrum disorder. Neuroimage. 2019 ; 190 : 182-90.

Neuroimaging studies of Autism Spectrum Disorder (ASD) have yielded inconsistent results indicating either increases or decreases in functional connectivity, or both. Recent findings suggest that these seemingly divergent results might be underpinned by greater inter-individual variability in brain network connectivity in ASD. We tested the hypothesis that the spatial patterns of intrinsic connectivity networks (ICNs) are more idiosyncratic in ASD, and demonstrated that this increased variability is associated with symptomatology. We estimated whole brain functional connectivity based on resting state functional magnetic resonance imaging (fMRI) data obtained from the Autism Brain Imaging Data Exchange I & II (ABIDE I & II) repository : 422 (69 females) participants with ASD and 424 (59 females) typically developing (TD) participants between 6 and 30 years of age. We clustered individuals’ patterns of resting state functional connectivity into seven networks, each representing an ICN, and assessed the heterogeneity of each vertex on the cortical surface across individuals in terms of its incorporation into a particular ICN. We found that the incorporation of individual anatomical locations (vertices) to a common network was less consistent across individuals in ASD, indicating a more idiosyncratic organization of ICNs in the ASD brain. This spatial shifting effect was particularly pronounced in the Sensory-Motor Network (SMN) and the Default Mode Network (DMN). We also found that this idiosyncrasy in large-scale brain network organization was correlated with ASD symptomatology (ADOS). These results support the view that idiosyncratic functional connectivity is a hallmark of the ASD brain. We provide the first evidence that the anatomical organization of ICNs is idiosyncratic in ASD, as well as providing evidence that such abnormalities in brain network organization may contribute to the symptoms of ASD.

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11. Parish-Morris J, Pallathra AA, Ferguson E, Maddox BB, Pomykacz A, Perez LS, Bateman L, Pandey J, Schultz RT, Brodkin ES. Adaptation to different communicative contexts : an eye tracking study of autistic adults. J Neurodev Disord. 2019 ; 11(1) : 5.

BACKGROUND : Learning through social observation (i.e., watching other people interact) lays the foundation for later social skills and social cognition. However, social situations are often complex, and humans are only capable of attending to one aspect of a scene at a time. How do people choose where to allocate their visual resources when viewing complex social scenarios ? For typically developing (TD) individuals, faces are often given priority. Depending upon context, however, it may be more useful to attend to other aspects of the environment, such as hands, tools, or background objects. Previous studies reported reduced face looking in individuals with autism spectrum disorder (ASD), but modulation of visual attention in response to contextual differences (e.g., according to social richness, or the presence/absence of communicative behaviors between two people) has only briefly been explored. In this study, we used eye-tracking technology to test the extent to which ASD adults and TD adults use social context to guide their gaze behavior. METHODS : Fifty-five adults participated (28 with ASD). The location and duration of participants’ gaze were recorded while they watched a series of naturalistic social videos. Half of the videos depicted two people engaging in non-verbal communication (rich social scenes) while playing with toys. The other half depicted two people playing with toys separately, not interacting with each other (lean social scenes). RESULTS : ASD and TD adults both increased their attention to faces in communicative contexts (rich social scenes) as compared to non-communicative contexts (lean social scenes). However, TD adults increased their attention to faces significantly more when watching two people communicate than did ASD adults, who increased their attention to a lesser degree. Further analysis revealed that ASD adults persisted in looking at hands and toys, even when observing two people communicate in a rich social scene. CONCLUSIONS : Diminished gaze to faces when observing two people communicating may lead to fewer opportunities for social learning and subsequent reductions in social knowledge. Naturalistic measures of contextual modulation could help identify areas of need for individuals learning about the social world and could become treatment targets to improve everyday social learning.

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12. Schlosser RW, Brock KL, Koul R, Shane H, Flynn S. Does Animation Facilitate Understanding of Graphic Symbols Representing Verbs in Children With Autism Spectrum Disorder ?. Journal of speech, language, and hearing research : JSLHR. 2019 ; 62(4) : 965-78.

Purpose The effects of animation on identification of graphic symbols for verbs were studied using the Autism Language Program Graphic Symbols Set in children diagnosed with mild-to-severe autism spectrum disorder between the ages of 3 and 7 years. Method The participants were randomly assigned to an animated symbol condition or a static symbol condition. Static symbols were spliced from the animated symbols to ensure that the symbols differed only in terms of the absence or presence of movement. The participants were asked to identify a target symbol among foils given the spoken label. Results There were no significant differences between the groups with respect to chronological age, autism severity, and receptive target verb knowledge. An independent t test revealed that animated symbols were more readily identified than static symbols. Conclusions Animation enhances the identification of verbs in children with autism spectrum disorder. Clinicians are encouraged to take advantage of animation when introducing graphic symbols representing verbs. Limitations and implications for future research are discussed.

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