Pubmed du 04/01/19

vendredi 4 janvier 2019

1. Barger B, Moody EJ, Ledbetter C, D’Abreu L, Hepburn S, Rosenberg SA. Temperament Similarities and Differences : A Comparison of Factor Structures from the Behavioral Style Questionnaire in Children with and Without Autism Spectrum Disorder. Journal of autism and developmental disorders. 2019.

The majority of studies of temperament in children with autism spectrum disorder (ASD) use scales normed on typical populations. The present study examined a widely used measure of temperament, the Behavioral Style Questionnaire (McDevitt and Carey in Behavioral Styles Questionnaire, Behavioral-Developmental Initiatives Scottsdale, AZ, 1975) to determine whether it contains the temperament traits theorized by its creators. Neither confirmatory nor exploratory factor analysis, using a sample of children with ASD and a population comparison group, identified the theorized nine temperament factors ; many items did not strongly load on any of the original factors. A 10 factor solution best described the ASD data and a 9 factor solution best described the typical group’s data. There were substantial similarities in the 9 factor solutions, but groups differed from one another enough to question construct similarity for several factors. These results highlight that more basic psychometric research is needed to better understand the BSQ in children with ASD.

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2. Bronzuoli MR, Facchinetti R, Ingrassia D, Sarvadio M, Schiavi S, Steardo L, Verkhratsky A, Trezza V, Scuderi C. Neuroglia in the autistic brain : evidence from a preclinical model. Molecular autism. 2018 ; 9 : 66.

Background : Neuroglial cells that provide homeostatic support and form defence of the nervous system contribute to all neurological disorders. We analyzed three major types of neuroglia, astrocytes, oligodendrocytes, and microglia in the brains of an animal model of autism spectrum disorder, in which rats were exposed prenatally to antiepileptic and mood stabilizer drug valproic acid ; this model being of acknowledged clinical relevance. Methods : We tested the autistic-like behaviors of valproic acid-prenatally exposed male rats by performing isolation-induced ultrasonic vocalizations, the three-chamber test, and the hole board test. To account for human infancy, adolescence, and adulthood, such tasks were performed at postnatal day 13, postnatal day 35, and postnatal day 90, respectively. After sacrifice, we examined gene and protein expression of specific markers of neuroglia in hippocampus, prefrontal cortex, and cerebellum, these brain regions being associated with autism spectrum disorder pathogenesis. Results : Infant offspring of VPA-exposed dams emitted less ultrasonic vocalizations when isolated from their mothers and siblings and, in adolescence and adulthood, they showed altered sociability in the three chamber test and increased stereotypic behavior in the hole board test. Molecular analyses indicate that prenatal valproic acid exposure affects all types of neuroglia, mainly causing transcriptional modifications. The most prominent changes occur in prefrontal cortex and in the hippocampus of autistic-like animals ; these changes are particularly evident during infancy and adolescence, while they appear to be mitigated in adulthood. Conclusions : Neuroglial pathological phenotype in autism spectrum disorder rat model appears to be rather mild with little signs of widespread and chronic neuroinflammation.

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3. Conte C, Lopez Pell AF. [Digital applications and support devices for persons with intellectual disability and autism spectrum disorder]. Vertex (Buenos Aires, Argentina). 2018 ; Xxix(137) : 65-71.

In recent years, there has been an increase in the number of digital applications and support devices for persons with intellectual disability and autism spectrum disorder (ASD). These technologies have not only become part of the everyday life of patients, improving their quality of life and self-determination, but also been incorporated into the treatments they require. Nevertheless, what are those persons’ needs and what are the most suitable apps ? Are they effective ? What is the evidence for them ? These questions are analyzed by making a review of current work and lines of research. The starting point is effcient assisted intervention, analyzing the pairing relation between the needs of persons with intellectual disability and ASD and the existing technology. Moreover, concepts and applications to do with virtual and extended reality, affective computation and interaction with robots in therapeutic work with autism are analyzed.

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4. Edinger ZS, Powers KA, Jordan KS, Callaway DW. Evaluation of an Online Educational Intervention to Increase Knowledge and Self-efficacy in Disaster Responders and Critical Care Transporters Caring for Individuals with Developmental Disabilities. Disaster medicine and public health preparedness. 2019 : 1-5.

OBJECTIVE : Disability-related education is essential for disaster responders and critical care transporters to ensure positive patient outcomes. This pilot study evaluated the effect of an online educational intervention on disaster responders and critical care transporters’ knowledge of and feelings of self-efficacy about caring for individuals with developmental disabilities. METHODS : A 1-group, pretest-posttest, quasi-experimental design was used. A convenience sample of 33 disaster responders and critical care transporters participated. RESULTS : Of the 33 participants, only 24% had received prior education on this topic, and 88% stated that such education would be beneficial to their care of patients. Nineteen participants completed both the pretest and posttest, and overall performance on knowledge items improved from 66% correct to 81% correct. Self-efficacy for caring for developmentally disabled individuals improved, with all 10 items showing a statistically significant improvement. CONCLUSION : Online education is recommended to improve the knowledge and self-efficacy of disaster responders and critical care transporters who care for this vulnerable population after disasters and emergencies. (Disaster Med Public Health Preparedness. 2018 ;Page 1 of 5).

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5. Gabrielsen TP, Anderson JS, Stephenson KG, Beck J, King JB, Kellems R, Top DN, Jr., Russell NCC, Anderberg E, Lundwall RA, Hansen B, South M. Functional MRI connectivity of children with autism and low verbal and cognitive performance. Molecular autism. 2018 ; 9 : 67.

Background : Functional neuroimaging research in autism spectrum disorder has reported patterns of decreased long-range, within-network, and interhemispheric connectivity. Research has also reported increased corticostriatal connectivity and between-network connectivity for default and attentional networks. Past studies have excluded individuals with autism and low verbal and cognitive performance (LVCP), so connectivity in individuals more significantly affected with autism has not yet been studied. This represents a critical gap in our understanding of brain function across the autism spectrum. Methods : Using behavioral support procedures adapted from Nordahl, et al. (J Neurodev Disord 8:20-20, 2016), we completed non-sedated structural and functional MRI scans of 56 children ages 7-17, including LVCP children (n = 17, mean IQ = 54), children with autism and higher performance (HVCP, n = 20, mean IQ = 106), and neurotypical children (NT, n = 19, mean IQ = 111). Preparation included detailed intake questionnaires, video modeling, behavioral and anxiety reduction techniques, active noise-canceling headphones, and in-scan presentation of the Inscapes movie paradigm from Vanderwal et al. (Neuroimage 122:222-32, 2015). A high temporal resolution multiband echoplanar fMRI protocol analyzed motion-free time series data, extracted from concatenated volumes to mitigate the influence of motion artifact. All participants had > 200 volumes of motion-free fMRI scanning. Analyses were corrected for multiple comparisons. Results : LVCP showed decreased within-network connectivity in default, salience, auditory, and frontoparietal networks (LVCP < HVCP) and decreased interhemispheric connectivity (LVCP < HVCP=NT). Between-network connectivity was higher for LVCP than NT between default and dorsal attention and frontoparietal networks. Lower IQ was associated with decreased connectivity within the default network and increased connectivity between default and dorsal attention networks. Conclusions : This study demonstrates that with moderate levels of support, including readily available techniques, information about brain similarities and differences in LVCP individuals can be further studied. This initial study suggested decreased network segmentation and integration in LVCP individuals. Further imaging studies of LVCP individuals with larger samples will add to understanding of origins and effects of autism on brain function and behavior.

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6. Hoover DW, Romero EMG. The Interactive Trauma Scale : A Web-Based Measure for Children with Autism. Journal of autism and developmental disorders. 2019.

This study examined the feasibility, acceptability, and psychometric characteristics of a web-based touchscreen app prototype designed to assess self-reported trauma exposure and symptoms in children with autism spectrum disorder (ASD). The prototype was piloted with 20 clinically referred children previously diagnosed with ASD and having various known trauma exposures. User satisfaction and reported ease of use was high. The measure was sensitive to reports of teasing and bullying, endorsed by 75% and 70% of participants, respectively. Validity was assessed via comparisons with the UCLA Posttraumatic Stress Disorder Reaction Index and analysis of participants’ trauma exposures and symptoms. Clinical implications are discussed including issues of trauma screening, diagnosis, and treatment planning for traumatized youth with ASD.

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7. Iourov IY, Vorsanova SG, Yurov YB, Bertrand T. VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia. Molecular cytogenetics. 2018 ; 11 : 61.

Background : VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have stood the test of time. The Symposium of Rare Diseases has shown that studying Rett syndrome provides clues on molecular and cellular mechanisms for a variety of rare genetic/genomic disorders. Moreover, rare diseases associated with Rett-syndrome-like phenotype or MECP2 mutations/copy number variations have been thoroughly covered by a number of contributors. In this respect, we have found that a review dedicated to the scientific program of the VIII World Rett Syndrome Congress & Symposium of Rare Diseases could be an important addition to current literature. Conclusion : Taking the opportunity to review the World Rett Syndrome Congress & Symposium of Rare Diseases at Kazan, we have made an attempt to describe a number of achievements and developments in the field of studying Rett syndrome and rare diseases in Russia. Furthermore, chromosomal abnormalities/disorders have been considered in the rare disease context. Such approach to chromosomal abnormalities/disorders has been found to be rather new for an appreciable part of international researchers and health care providers. We do hope that this congress review may be helpful not only for those who are interested in local development of research and management of rare genetic disorders, but also for international researchers and clinical community of rare disease specialists.

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8. Potvin LA, Barnett BM, Brown HK, Cobigo V. "I Didn’t Need People’s Negative Thoughts" : Women With Intellectual and Developmental Disabilities Reporting Attitudes Toward Their Pregnancy. The Canadian journal of nursing research = Revue canadienne de recherche en sciences infirmieres. 2019 : 844562118819924.

BACKGROUND : Since the illegalization of involuntary sterilization of persons with intellectual and developmental disabilities, there has been an increase in childbearing in this population. However, women with intellectual and developmental disabilities continue to experience prejudicial attitudes toward their pregnancies. OBJECTIVE : To analyze the experiences of women with intellectual and developmental disabilities regarding their perceptions of support persons’ attitudes toward their pregnancies. METHODS : Three case studies derived from grounded theory research exploring perinatal social support received by women with intellectual and developmental disabilities. Using inductive content analysis, we further analyzed the perceptions of women with intellectual and developmental disabilities regarding support persons’ attitudes toward their pregnancies. Findings : The nature of interactions with support persons and women’s characteristics, such as help-seeking behaviors, disability, mental illness, and age, influenced support persons’ attitudes toward childbearing. Women preferred support from caregivers perceived as nonjudgmental and tended to restrict contact with persons perceived as prejudicial. However, some attitudes improved following positive interactions with the women. The relationship between support persons’ attitudes and the women’s help-seeking behaviors is thus complex. CONCLUSIONS : Education of families and medical and social services practitioners and opportunities for positive contact should be further explored. Caseworkers of women with intellectual and developmental disabilities may have invaluable roles in facilitating positive interactions between women with intellectual and developmental disabilities and caregivers.

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9. Qin D, Wu S, Chen Y, Hu X. Behavioral screening tools for identifying autism in non-human primates : existing and promising tests. Brain research bulletin. 2018.

Autism is a behaviorally defined neurodevelopmental disease characterized by social communication and social interaction deficits, as well as repetitive behaviors and restricted interests. Although the causes of autism are extremely complex, involving genes, environments and gene-environment interactions, genetic mutations are the highest risk factors. For this reason, preclinical research is now shifting into focusing on generating transgenic and knockout models, especially using the nonhuman primates, which are the closest relatives to humans. In spite of unique advantages of nonhuman primates over rodents in both functionally specialized brain structures and highly sophisticated social behaviors, the limited availability of phenotype screening tools restricts their translational utility. Here, this review focuses specially on behavioral phenotyping assays for primate models of autism. In the first part, the existing behavioral tests are discussed, and the second part is devoted to some few, in our view, very promising tests of new developments. In years to come, we should develop primate models with high construct validity, improve face validity by designing more specialized behavioral screening tools, strengthen collaborative efforts between rodent and primate models, and ultimately translate the results from animal models into human clinical trials.

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