Pubmed du 24/08/19

samedi 24 août 2019

1. Bowring DL, Totsika V, Hastings RP, Toogood S. Outcomes from a community-based Positive Behavioural Support team for children and adults with developmental disabilities. J Appl Res Intellect Disabil. 2019.

BACKGROUND : Previous evaluations of community PBS teams have not investigated whether behaviour change is both statistically reliable and clinically significant. Few previous studies have reported quality of life (QoL) and social validity outcomes. METHOD : The present authors collected data on 85 people referred to a specialist PBS team. The present authors used a unique set of multiple measures and statistical change metrics to evaluate outcome. RESULTS : Statistically significant improvements in QoL and health-related QoL (HRQoL), with medium to large effect sizes, were demonstrated following PBS input. Mean Behaviour Problems Inventory-Short Form scores reduced from 37.74 (SD = 30.54) at baseline to 12.12 (SD = 12.24) at follow-up, with a large effect size (d = 0.84). Stakeholders reported valuing the process and outcomes of PBS, findings which support the social validity of PBS for people with developmental disabilities. CONCLUSION : This study demonstrates successful PBS outcomes in QoL, HRQoL, challenging behaviour and social validity in a community setting.

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2. Candelo E, Ramirez-Montano D, Pachajoa H. Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome : A Case Report. Iranian journal of medical sciences. 2019 ; 44(4) : 347-53.

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations, and other gene mutations. A 12-year-old female Colombian patient was presented with refractory epilepsy and regression in skill acquisition (especially language with motor and verbal stereotypies, hyperactivity, and autistic spectrum disorder criteria). The patient was born to non-consanguineous parents and had an early normal development until the age of 36 months. Comparative genomic hybridization array-CGH (750K) was performed and Xp22.31 duplication was detected (6866889-8115153) with a size of 1.248 Mb associated with developmental delay, epilepsy, and autistic traits. Given the clinical criteria of RS, MECP2 sequencing was performed which showed a de novo pathogenic variant c.338C>G (p.Pro113Arg). The features of RS include intellectual disability, developmental delay, and autism. These features are associated with copy number variations (CNVs) on the X chromosome (Xp22.31 microduplication). Here we present the first reported case of simultaneous CNV and MECP2 pathogenic mutation in a patient with RS. We propose that both DNA alterations might have a synergistic effect and could lead to variable expressivity of the phenotype.

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3. Hiraide T, Hattori A, Ieda D, Hori I, Saitoh S, Nakashima M, Saitsu H. De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences. Epilepsia open. 2019 ; 4(3) : 476-81.

Epilepsy with myoclonic absences is a specific seizure type characterized by bilateral rhythmic clonic jerks with impairment of consciousness. Here, we report an individual with epilepsy with myoclonic absences, mild intellectual disabilities, language disorder, and autism spectrum disorder. His interictal electroencephalogram revealed a spike-and-slow wave complex dominant in the frontal area. His ictal polygraphic and video-electroencephalogram showed a characteristic diffuse synchronous 3-Hz spike-and-wave burst associated with bilateral upper limb myoclonic jerks with impairment of consciousness. Using whole-exome sequencing, we found a novel de novo variant, c.386T>G, p.(Val129Gly), in SETD1B (SET domain containing 1B). We previously reported that two individuals with a de novo SETD1B variant showed intellectual disability, epilepsy, and autism. Of note, one of those individuals and the present case showed epilepsy with myoclonic absences. Therefore, this report supports the indication that SETD1B may be a causative gene for neurodevelopmental disorders and suggests that epilepsy with myoclonic absences may be a characteristic feature of SETD1B-related disorders.

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4. Hossain MD, Kabir MA. Detecting Child Autism Using Classification Techniques. Studies in health technology and informatics. 2019 ; 264 : 1447-8.

Autism spectrum disorder (ASD) is a brain development disorder that restricts a person’s communication abilities and social interaction capabilities from natural growth. In this paper, we have applied various supervised classification techniques to detect the presence of child autism. Our findings show that the Sequential Minimal Optimization (SMO) classifier performs best to detect ASD cases with the highest accuracy and minimum execution time and error rate. We also identify the most dominant features in dectecting child autism.

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5. Hubert L, Cannata Serio M, Villoing-Gaude L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C. De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures. Journal of medical genetics. 2019.

BACKGROUND : Autistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, a number of cases remain genetically undiagnosed. OBJECTIVE : The objective of this study was to identify and characterise pathogenic variants in two individuals from unrelated families, both of whom presented a similar clinical phenotype that included an ASD, intellectual disability (ID) and seizures. METHODS : Whole-exome sequencing was used to identify pathogenic variants in the two individuals. Functional studies performed in the Drosophila melanogaster model was used to assess the protein function in vivo. RESULTS : Probands shared a heterozygous de novo secretory carrier membrane protein (SCAMP5) variant (NM_001178111.1:c.538G>T) resulting in a p.Gly180Trp missense variant. SCAMP5 belongs to a family of tetraspanin membrane proteins found in secretory and endocytic compartments of neuronal synapses. In the fly SCAMP orthologue, the p.Gly302Trp genotype corresponds to human p.Gly180Trp. Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect. CONCLUSION : Our study identifies SCAMP5 deficiency as a cause for ASD and ID and underscores the importance of synaptic vesicular trafficking in neurodevelopmental disorders.

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6. Marco EM. Commentary on "Rett syndrome before regression : a time window of overlooked opportunities for diagnosis and intervention" by Cosentino et al. Neurosci Biobehav Rev. 2019.

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7. Pohl A, Jones WR, Marrus N, Zhang Y, Klin A, Constantino JN. Behavioral predictors of autism recurrence are genetically independent and influence social reciprocity : evidence that polygenic ASD risk is mediated by separable elements of developmental liability. Translational psychiatry. 2019 ; 9(1) : 202.

The preponderance of causal influence on total population attributable risk for autism is polygenic in nature, but it is not known how such liability engenders the development of the syndrome. In 348 epidemiologically ascertained toddler twins, we explored associations between autistic traits and three robust, highly heritable predictors of familial autism recurrence : variation in attention, motor coordination, and parental autistic trait burden. We observed that these predictors-despite collectively accounting for over one third of variance in clinical recurrence-are genetically independent in early childhood, and jointly account for a comparable share of inherited influence on early reciprocal social behavior in the general population. Thus, combinations of what are otherwise discrete, inherited behavioral liabilities-some not specific to autism-appear to jointly mediate common genetic risk for autism. Linking genetic variants and neural signatures to these independent traits prior to the onset of the development of autism will enhance understanding of mechanisms of causation in familial autistic syndromes. Moreover, ongoing biomarker discovery efforts will benefit from controlling for the effects of these common liabilities, which aggregate in individuals with autism but are also continuously distributed in "controls". Finally, early inherited liabilities that participate in the early ontogeny of autistic syndromes represent parsimonious intervention targets for polygenic forms of the condition, and represent candidate trans-diagnostic endophenotypes of potential relevance to a diversity of neuropsychiatric syndromes.

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8. Saban-Bezalel R, Mashal N. Different Factors Predict Idiom Comprehension in Children and Adolescents with ASD and Typical Development. J Autism Dev Disord. 2019.

Autism spectrum disorder (ASD) is associated with deficient comprehension of figurative language and, specifically, idioms. Theories ascribe this to deficits in specific abilities (e.g., Theory of Mind [ToM] ; executive functions [EF] ; general language skills), but no comprehensive theory has resulted. This study investigated the differential contribution of various abilities to idiom comprehension among children and adolescents with ASD compared to matched controls with typical development (TD). The TD group outperformed the ASD group in idiom comprehension. However, whereas EF predicted idiom comprehension in the TD group, vocabulary predicted idiom comprehension in the ASD group. Our findings emphasize the link between general language competence and figurative language comprehension in ASD and point to different processing mechanisms in each group.

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9. Sinai-Gavrilov Y, Gev T, Mor-Snir I, Golan O. Seeking Team Collaboration, Dialogue and Support : The Perceptions of Multidisciplinary Staff-Members Working in ASD Preschools. J Autism Dev Disord. 2019.

Autism spectrum disorder (ASD) impacts various developmental domains, requiring interventions by professionals from multiple disciplines. In Israel, ASD community preschools’ multidisciplinary teams aim to provide each child with an integrative intervention program. The current study focused on the working experience of 21 professionals from multidisciplinary teams in ASD-preschools, with special emphasis on their perceptions of the intra-staff dialogue in their teams. Interviews were transcribed verbatim and analyzed through grounded theory. Arising themes covered : challenges characterizing the delivery of intervention to children with ASD in a community setting ; challenges met by professionals when attempting to navigate multidisciplinary teamwork ; and factors that facilitate multidisciplinary work. Practices that support multidisciplinary team cohesion at the team, the organizational, and the policy-making levels are discussed.

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10. Tse VWS, Crabtree J, Islam S, Stott J. Comparing Intellectual and Memory Abilities of Older Autistic Adults with Typically Developing Older Adults Using WAIS-IV and WMS-IV. J Autism Dev Disord. 2019.

This study aimed to compare cognitive and memory abilities between older adults with and without autism over the age of 50. Twenty-eight individuals with autism and 29 typically developing (TD) older adults took part in the current study. Participants’ cognitive and memory abilities were assessed by WAIS-IV and WMS-IV. Older autistic adults were found to have poorer performance in processing speed and visual working memory, but they performed at a similar level as TD controls in all other domains. Poorer processing speed and visual working memory are also often found to be associated with age-related decline in neurotypical adults. Longitudinal studies are warranted to explore how the combination of ageing and autism affects cognitive functioning in older adults.

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11. Ueoka I, Pham HTN, Matsumoto K, Yamaguchi M. Autism Spectrum Disorder-Related Syndromes : Modeling with Drosophila and Rodents. International journal of molecular sciences. 2019 ; 20(17).

Whole exome analyses have identified a number of genes associated with autism spectrum disorder (ASD) and ASD-related syndromes. These genes encode key regulators of synaptogenesis, synaptic plasticity, cytoskeleton dynamics, protein synthesis and degradation, chromatin remodeling, transcription, and lipid homeostasis. Furthermore, in silico studies suggest complex regulatory networks among these genes. Drosophila is a useful genetic model system for studies of ASD and ASD-related syndromes to clarify the in vivo roles of ASD-associated genes and the complex gene regulatory networks operating in the pathogenesis of ASD and ASD-related syndromes. In this review, we discuss what we have learned from studies with vertebrate models, mostly mouse models. We then highlight studies with Drosophila models. We also discuss future developments in the related field.

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12. Venturella M, Carbonell X, Cabre V, Arias-Pujol E. A Psychoanalytical Perspective on the Co-therapeutic Relationship With a Group of Siblings of Children With Autism : An Observational Study of Communicative Behavior Patterns. Front Psychol. 2019 ; 10 : 1832.

A child diagnosed with autism may have a negative psychological and behavioral impact on their siblings, whose participation in a group with children in the same situation is a preventive measure. Our group study was conducted by two therapists (T1 and T2) assigned to co-therapy (CT) work. Both therapists shared the theoretical bases and understanding of the group and the needs of the individual subjects, and complemented each other in terms of the direction of their interventions, given that shared impressions and continuous exchanges that integrate countertransference aspects are essential to successful co-therapy. The objectives of this study were as follows : (a) to detect patterns of clarification, confrontation, and interpretation interventions by T1 and T2 in the group ; and (b) to detect patterns of clarification, confrontation and interpretation interventions considering T1 and T2 as the only focal subject of the CT. Design was mixed-methods based on systematic observation, for which we developed a qualitative ad hoc instrument that combined a field format and a categorizing system. Interobserver agreement was analyzed quantitatively using Cohen’s kappa and Krippendorf’s canonical concordance. Once data reliability was confirmed, lag sequential analysis using GSEQ5 software was performed to search for behavior patterns. The results show (a) different behavior patterns in the clarification, confrontation, and interpretation interventions by T1 and T2 ; and (b) different behavior patterns when T1 and T2 are considered as the focal subject (CT). Our study offers a new perspective on the impact of therapist interventions on participants in this kind of group.

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13. Wang L, Ma J, Dholakia R, Howells C, Lu Y, Chen C, Li R, Murray M, Leslie D. Changes in Healthcare Expenditures After the Autism Insurance Mandate. Res Autism Spectr Disord. 2019 ; 57 : 97-104.

Background : In recent years, most U.S. states have passed autism mandates requiring private insurers to cover autism spectrum disorders (ASD). Little is known about the post-mandate changes in healthcare expenditures. Method : This study utilized 2006-2012 de-identified insurance claims data from the largest insurer in Pennsylvania (PA), where the mandate went into effect in 2009. Healthcare expenditures were defined as the amount the insurer paid for healthcare services and were adjusted to 2012 price level. A mixed model approach was used to analyze the expenditures. Results : A total of 9,471 children with ASD were included in the study. Although the pre-mandate total expenditures per child with ASD were similar, the post-mandate expenditures significantly increased for groups subject to the autism mandate (87% increase from $7,754 in 2008 to $14,486 in 2010) compared to the exempt groups (27% increase from $7,238 to $9,171). By insurance type, the change from 2008 to 2010 in ASD-related expenditures per child with ASD was $8,439 for fully insured large employer sponsored plans and $43 for the Children’s Health Insurance Program (CHIP), both subject to the PA mandate ; and $2,631 for the self-insured, $980 for small-employers, and $-92 for individual plans, all of which are exempt from the mandate. These increases were due to outpatient services but not inpatient or drug costs. Conclusions : Healthcare expenditures increased significantly following the PA autism mandate. Nonexempt, large employer groups had the largest increase in spending. Some exempt, self-insured companies may have voluntarily covered ASD services, leading to a moderate increase.

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14. Zarafshan H, Mohammadi MR, Abolhassani F, Motevalian SA, Sharifi V. Developing a Comprehensive Evidence-Based Service Package for Toddlers with Autism in a Low Resource Setting : Early Detection, Early Intervention, and Care Coordination. Iranian journal of psychiatry. 2019 ; 14(2) : 120-9.

Objective : The number of children with autism, who have many unmet needs, is increasing dramatically. However, the existing evidence shows that early identification and intervention are effective in reducing the later costs and burdens of autism spectrum disorder (ASD). Thus, the present study aimed to develop evidence-based services for children with autism in Iran to reduce its impacts on the affected children and their families and to decrease its burden on the society. Method : A 3-step study was conducted based on a modification of the Replicating Effective Programs (REP) framework (step 1 : need assessment and situation analysis ; step 2 : identifying current evidence-based services ; step 3 : designing the first draft of the package and its core elements). Each step was conducted by a specific methodology. Results : By considering the obtained data, it was found that a package of services with 4 core components to respond to the perceived needs in Iran was needed : (1) early detection of at-risk children ; (2) care coordination and facilitation of access to current services ; (3) implementation of an evidence-based early intervention program ; and (4) training interventionists using an effective educational framework based on evidence-based material. Conclusion : REP framework was used in the present study, which has been shown to be effective in adapting and implementing health care services. By considering the preconditions of REP, a comprehensive package of services, with 4 components was designed for toddlers with autism in Iran. The next step will be to study this package using a multicenter hybrid effectiveness-implementation randomized control trial.

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