Pubmed du 23/07/19

mardi 23 juillet 2019

1. Eill A, Jahedi A, Gao Y, Kohli JS, Fong CH, Solders S, Carper RA, Valafar F, Bailey BA, Muller RA. Functional connectivities are more informative than anatomical variables in diagnostic classification of autism. Brain Connect ;2019 (Jul 21)

Machine learning techniques have been implemented to reveal brain features that distinguish people with autism spectrum disorders (ASDs) from typically developing (TD) peers. However, it remains unknown whether different neuroimaging modalities are equally informative for diagnostic classification. We combined anatomical MRI (aMRI), diffusion weighted imaging (DWI), and functional connectivity MRI (fcMRI), using conditional random forest (CRF) for supervised learning to compare how informative each modality was in diagnostic classification. In-house data (N=93) included 47 TD and 46 ASD participants, matched on age, motion, and non-verbal IQ. Four main analyses consistently indicated that fcMRI variables were significantly more informative than anatomical variables from aMRI and DWI. This was found (1) when the top 100 variables from CRF run separately in each modality were combined for multimodal CRF ; (2) when only 19 top variables reaching >67% accuracy in each modality were combined in multimodal CRF ; and (3) when the large number of initial variables (before dimension reduction) potentially biasing comparisons in favor of fcMRI was reduced using a less granular region of interest scheme. Consistent superiority of fcMRI was even found (4) when 100 variables per modality were randomly selected, removing any such potential bias. Greater informative value of functional than anatomical modalities may relate to the nature of fcMRI data, reflecting more closely behavioral condition, which is also the basis of diagnosis, whereas brain anatomy may be more reflective of neurodevelopmental history.

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2. Golshan F, Moinzadeh M, Narafshan MH, Afarinesh MR. The Efficacy of Teaching English as a Foreign Language to Iranian Students with Autism Spectrum Disorder on Their Social Skills and Willingness to Communicate. Iran J Child Neurol ;2019 (Summer) ;13(3):61-73.

Objectives : This applied research is the first practical study of teaching English as a foreign language (EFL) to students with autism spectrum disorder (ASD) in Iran. We examined the effect of a well-designed foreign language learning setting in facilitation of social skills and willingness to communicate in children with ASD. Materials & Methods : A mixed-method research design was used. Using stratified sampling, a limited sample of 18 students were chosen from Kerman Province, southeastern Iran in 2014 categorized in three levels of ASD for each group of experimental and control ; matched pairs were used to ensure homogeneity of participants in two groups. Each participant received 15 sessions with totaling 67 h of language learning. First 10 sessions were in the form of tutorials and the last 5 sessions were held in the form of paired classes with a peer. Before and after the sessions, caregivers and parents completed a questionnaire on students’ social skills ; the English instructor also rated participants’ willingness to communicate. Results : Teaching a foreign language had a positive main effect on social skills from caregivers’ and parents’ view compared to those of controls, significantly (P<0.05). From the instructor’s view, there was additionally a significant improvement in the students with ASD’s willingness to communicate in classroom settings compared to the control group (P<0.05). Conclusion : Optimum foreign language pedagogy for students with ASD is applied as an effective context enhancing children’s capabilities in social skills and willingness to communicate, provoked through a motivational foreign setting modulation in a novel environment. Suggestions on enhancing joint attention during the curriculum are provided.

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3. Michelotto ALL, Anater A, Guebert MCC, Borges TD, Michelotto PV, Jr., Pimpao CT. Animal-Assisted Activity for Children with Autism Spectrum Disorder : Parents’ and Therapists’ Perception. J Altern Complement Med ;2019 (Jul 19)

Autism spectrum disorder (ASD), characterized by communication and social interaction difficulties, might be positively influenced by animal-assisted activity (AAA). The aim of this study was to investigate the parents’ and therapists’ perception to behavior in children with ASD after they underwent AAA. The study was performed in a specialized therapeutic center in Curitiba, South of Brazil. A total of 15 children (14 boys and 1 girl), aged 5.6 +/- 1.6 years, diagnosed with ASD, underwent at least 10 weekly 30-min AAA sessions. Three trained dogs were used in total, and there were two dogs in each session. Children were free to interact with dogs and among themselves, in groups of 11.2 +/- 2.2 children per session, in the presence of therapists, the researcher, and a veterinarian observing the dogs and ensuring safety. The parents and therapists completed two questionnaires on their perception of the children’s behavior before and after AAA. A total of 18 visits were necessary to complete the 10 sessions for each of the 15 children. According to the therapists’ perception, AAA increased positive gestures and facial expression in children (p = 0.010) and improved peer interaction. Even though there was a 50% reduction in the parents’ feedback at the end of the study, according to their perception there was a reduction in self-aggression and repetitive stereotyped movements, as well as an improvement in speech communication and creativity. This study demonstrated the positive effects of the AAA on the social behavior of children with ASD.

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4. Nasiri J, Salehi M, Hosseinzadeh M, Zamani M, Fattahpour S, Aryani O, Fazel Najafabadi E, Jabarzadeh M, Asadi S, Gholamrezapour T, Sedghi M, Ghorbani F. Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome. Iran J Child Neurol ;2019 (Summer) ;13(3):25-34.

Objectives : Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in MECP2 gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome. Materials & Methods : To provide further insights into the distribution of mutations in MECP2 gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017. We sequenced the entire MECP2 coding region and splice sites for detection of point mutations in this gene. Freely available programs including JALVIEW, SIFT, and PolyPhen were used to find out the damaging effects of unknown mutations. Results : Direct sequencing revealed MECP2 mutations in 13 of the 24 patients. We identified in 13 patients, 10 different mutations in MECP2 gene. Three of these mutations have not been reported elsewhere and are most likely pathogenic. Conclusion : Defects in MECP2 gene play an important role in pathogenesis of Rett syndrome. Mutations in MECP2 gene can be found in the majority of Iranian RTT patients. We failed to identify mutations in MECP2 gene in 46% of our patients. For these patients, further molecular analysis might be necessary.

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5. Wolfers T, Floris DL, Dinga R, van Rooij D, Isakoglou C, Kia SM, Zabihi M, Llera A, Chowdanayaka R, Kumar VJ, Peng H, Laidi C, Batalle D, Dimitrova R, Charman T, Loth E, Lai MC, Jones E, Baumeister S, Moessnang C, Banaschewski T, Ecker C, Dumas G, O’Muircheartaigh J, Murphy D, Buitelaar JK, Marquand AF, Beckmann CF. From pattern classification to stratification : towards conceptualizing the heterogeneity of Autism Spectrum Disorder. Neurosci Biobehav Rev ;2019 (Jul 19)

Pattern classification and stratification approaches have increasingly been used in research on Autism Spectrum Disorder (ASD) over the last ten years with the goal of translation towards clinical applicability. Here, we present an extensive scoping literature review on those two approaches. We screened a total of 635 studies, of which 57 pattern classification and 19 stratification studies were included. We observed large variance across pattern classification studies in terms of predictive performance from about 60% to 98% accuracy, which is among other factors likely linked to sampling bias, different validation procedures across studies, the heterogeneity of ASD and differences in data quality. Stratification studies were less prevalent with only two studies reporting replications and just a few showing external validation. In summary, mapping biological differences at the level of the individual with ASD is a major challenge for the field now. Conceptualizing those mappings and individual trajectories that lead to the diagnosis of ASD, will become a major challenge in the near future.

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