Pubmed du 06/11/19

mercredi 6 novembre 2019

1. Bottema-Beutel K, Oliveira G, Cohen SR, Miguel J. Question-response-evaluation sequences in the home interactions of a bilingual child with autism spectrum disorder. Int J Lang Commun Disord ;2019 (Nov 6)

BACKGROUND : Prior research has described the prevalence and utility of questions in children’s language learning environment. However, there has been little empirical investigation of the interaction sequences that ensue following caregiver questions. Understanding these interactions may be especially important for children with autism spectrum disorder (ASD), who may have difficulty engaging in reciprocal interactions. Question-response-evaluation sequences (QRE) are a particular type of interaction sequence launched by questions that have been examined primarily in classroom contexts. Less research has been devoted to understanding how caregivers and children with ASD leverage this interactional format in the context of home interactions. AIMS : We focus on QRE sequences within interactions between a 5-year-old bilingual child with ASD and his parents. In these sequences, the adult poses known-answer questions, the child responds and the adult evaluates the response. QRE sequences are primarily structured by the questioner (i.e., the parents in our context), and we examine the interactive work done by parents to initiate, maintain and close these sequences. We also examine the child’s contributions to these sequences. METHODS & PROCEDURES : We applied conversation analysis (CA) to video recordings of home routines, such as play, book-reading and schoolwork. Videos were fully transcribed using CA conventions, and 55 QRE segments were isolated from the data corpus for further analysis. OUTCOMES & RESULTS : Q-word questions (i.e., where, what, why, when, how questions) were the most prevalent question format, and repetition of the child’s response was the most prevalent form of evaluation. We found that QRE sequences were embedded within a variety of action trajectories that extend beyond pedagogical functions. These included repairing a prior utterance, extending collaborative play routines and engaging in topically connected labelling rituals. CONCLUSIONS & IMPLICATIONS : QRE sequences appeared to strike a balance in terms of the level of constraint they placed on the child’s contributions to interactions, and the affordances they provide for participating in and progressing through interactions. This study can help clinicians understand the types of interactions that can be pursued with QRE sequences in their work with children with ASD. The findings may also aid intervention researchers’ efforts to leverage caregivers’ existing strengths for adapting their interactional overtures to maximize children’s engagement. Finally, this study provides an illustration of caregiver-child interactions in a population that is currently under-represented in the literature.

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2. da Silva Montenegro EM, Costa CS, Campos G, Scliar M, de Almeida TF, Zachi EC, Silva IMW, Chan AJS, Zarrei M, Lourenco NCV, Yamamoto GL, Scherer S, Passos-Bueno MR. Meta-Analyses Support Previous and Novel Autism Candidate Genes : Outcomes of an Unexplored Brazilian Cohort. Autism Res ;2019 (Nov 6)

Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder (ASD). We evaluated the role of rare copy number variations (CNVs) and exonic de novo variants, in a molecularly unexplored Brazilian cohort of 30 ASD trios (n = 90), by performing a meta-analysis of our findings in more than 20,000 patients from NDD cohorts. We identified three pathogenic CNVs : two duplications on 1q21 and 17p13, and one deletion on 4q35. CNVs meta-analysis (n = 8,688 cases and n = 3,591 controls) confirmed 1q21 relevance by identifying duplications in other 16 ASD patients. Exome analysis led the identification of seven de novo variants in ASD genes (SFARI list) : three loss-of-function pathogenic variants in CUL3, CACNA1H, and SHANK3 ; one missense pathogenic variant in KCNB1 ; and three deleterious missense variants in ATP10A, ANKS1B, and DOCK1. From the remaining 12 de novo variants in non-previous ASD genes, we prioritized PRPF8 and RBM14. Meta-analysis (n = 13,754 probands ; n = 2,299 controls) identified six and two additional patients with validated de novo variants in PRPF8 and RBM14, respectively. By comparing the de novo variants with a previously established mutational rate model, PRPF8 showed nominal significance before multiple test correction (P = 0.039, P-value adjusted = 0.079, binomial test), suggesting its relevance to ASD. Approximately 60% of our patients presented comorbidities, and the diagnostic yield was estimated in 23% (7/30 : three pathogenic CNVs and four pathogenic de novo variants). Our uncharacterized Brazilian cohort with tetra-hybrid ethnic composition was a valuable resource to validate and identify possible novel candidate loci. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : We believed that to study an unexplored autistic population, such as the Brazilian, could help to find novel genes for autism. In order to test this idea, with our limited budget, we compared candidate genes obtained from genomic analyses of 30 children and their parents, with those of more than 20,000 individuals from international studies. Happily, we identified a genetic cause in 23% of our patients and suggest a possible novel candidate gene for autism (PRPF8).

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3. Heimer G, van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting BJ, Borghei M, Atawneh OM, Nissenkorn A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B. Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia. Hum Mutat ;2019 (Nov 6)

We describe the underlying genetic cause of a novel Rett-like phenotype accompanied by areflexia in three MECP2-negative individuals from two unrelated families. Discovery analysis was performed using whole exome sequencing followed by Sanger sequencing for validation and segregation. Functional studies using short-hairpin RNA (shRNA) for targeted gene knockdown were implemented by transfection of mouse cultured primary hippocampal neurons and in vivo by in utero electroporation. All patients shared a common homozygous frameshift mutation (Chr 9:135073515, c.376dupT, p.(Ser126PhefsTer241)) in netrin-G2 (NTNG2, NM_032536.3) with predicted nonsense-mediated decay. The mutation fully segregated with the disease in both families. Knockdown of either NTNG2 or the related netrin-G family member NTNG1 resulted in severe neurodevelopmental defects of neuronal morphology and migration. While NTNG1 has previously been linked to a RTT-like phenotype, this is the first description of a RTT-like phenotype caused by NTNG2 mutation. Netrin-G proteins have been shown to be required for proper axonal guidance during early brain development and involved in NMDA-mediated synaptic transmission. Our results demonstrating that knockdown of murine NTNG2 causes severe impairments of neuronal morphology and cortical migration are consistent with those of RTT animal models and the shared neurodevelopmental phenotypes between the individuals described here and typical RTT patients. This article is protected by copyright. All rights reserved.

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4. Johansen Taber K, Lim-Harashima J, Naemi H, Goldberg J. Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines. Mol Genet Genomic Med ;2019 (Nov 6):e1024.

BACKGROUND : Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Many providers offer preconception or prenatal FXS carrier screening. However, guidelines recommend screening only for those with a family history or undergoing fertility evaluation. Wider screening has been resisted because of concerns about patient understanding of FXS-associated inheritance patterns and phenotypes. Additionally, the clinical utility has been questioned. METHODS : We addressed these concerns by analyzing reproductive decision-making and pregnancy management informed by post-test genetic consultation among 122 FMR1 premutation carriers identified by expanded carrier screening. RESULTS : Sixty-three percent of those screened met guidelines screening criteria ; the remaining 37% did not. Ninety-eight percent had undergone post-test genetic consultation. Of respondents screened preconceptionally, 74% reported planning or pursuing actions to reduce the risk of an affected pregnancy ; the extent to which couples planned/pursued these actions was not significantly different between those meeting either screening criterion (76%) versus those meeting neither criterion (55%). Of respondents screened prenatally, 41% pursued prenatal diagnostic testing ; the extent to which couples pursued prenatal diagnosis was not significantly different between those who met either screening criterion (37%) versus those who met neither criterion (31%). CONCLUSION : These results support the expansion of FXS screening criteria in guidelines.

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5. Kuper GE, Ksobiech K, Wickert J, Leighton F, Frederick E. An Exploratory Analysis of Increasing Self-Efficacy of Adults with Autism Spectrum Disorder Through the Use of Multimedia Training Stimuli. Cyberpsychol Behav Soc Netw ;2019 (Nov 6)

While some evidence-based vocational studies exist for adults with Autism Spectrum Disorder (ASD), most focus on social interaction. This mixed methods exploratory study investigated a multimedia approach to training ASD adults as a strategy for increasing self-efficacy and producing positive training outcomes during the anticipatory socialization and encounter phases of organizational assimilation. Ten ASD adults, seven men and three women, 19 to 42 years of age, participated in the study, which utilized video and virtual reality to instruct participants on how to wire an electrical socket. Significant increases in the participant’s self-efficacy were found using a modified version of the New General Self-Efficacy (NGSE) scale. In addition, a thematic analysis of post-training comments showed that participants, overall, were engaged and had fun during the training. These findings suggest that a multimedia approach may be an effective strategy for achieving positive outcomes by increasing self-efficacy and engagement when training newly hired employees diagnosed with ASD to perform vocational tasks.

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6. Lee BK, Eyles DW, Magnusson C, Newschaffer CJ, McGrath JJ, Kvaskoff D, Ko P, Dalman C, Karlsson H, Gardner RM. Developmental vitamin D and autism spectrum disorders : findings from the Stockholm Youth Cohort. Mol Psychiatry ;2019 (Nov 6)

Animal studies indicate that early life vitamin D is crucial for proper neurodevelopment. Few studies have examined whether maternal and neonatal vitamin D concentrations influence risk of autism spectrum disorders (ASD). Participants were sampled from the Stockholm Youth Cohort, a register-based cohort in Sweden. Concentrations of total 25-hydroxyvitamin D (25OHD) were assessed from maternal and neonatal biosamples using a highly sensitive liquid chromatography tandem mass spectrometry method. The maternal sample consisted of 449 ASD cases and 574 controls, the neonatal sample : 1399 ASD cases and 1607 controls ; and the paired maternal-neonatal sample : 340 ASD cases and 426 controls. Maternal 25OHD was not associated with child ASD in the overall sample. However, in Nordic-born mothers, maternal 25OHD insufficiency (25 - <50 nmol/L) at 11 weeks gestation was associated with 1.58 times higher odds of ASD (95% CI : 1.00, 2.49) as compared with 25OHD sufficiency (>/=50 nmol/L). Neonatal 25OHD < 25 nmol/L was associated with 1.33 times higher odds of ASD (95% CI : 1.02, 1.75) as compared with 25OHD >/= 50 nmol/L. Sibling-matched control analyses indicated these associations were not likely due to familial confounding. Children with both maternal 25OHD and neonatal 25OHD below the median had 1.75 (95% CI : 1.08, 2.86) times the odds of ASD compared with children with maternal and neonatal 25OHD both below the median. Our results are consistent with an increasing body of evidence suggesting that vitamin D concentrations in early life may be associated with increased risk of neurodevelopmental disorders including ASD.

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7. Nakajima M, Schmitt LI, Feng G, Halassa MM. Combinatorial Targeting of Distributed Forebrain Networks Reverses Noise Hypersensitivity in a Model of Autism Spectrum Disorder. Neuron ;2019 (Nov 6) ;104(3):488-500.e411.

Autism spectrum disorder (ASD) is associated with noise hypersensitivity, the suboptimal extraction of meaningful signals in noisy environments. Because sensory filtering can involve distinct automatic and executive circuit mechanisms, however, developing circuit-specific therapeutic strategies for ASD noise hypersensitivity can be challenging. Here, we find that both of these processes are individually perturbed in one monogenic form of ASD, Ptchd1 deletion. Although Ptchd1 is preferentially expressed in the thalamic reticular nucleus during development, pharmacological rescue of thalamic perturbations in knockout (KO) mice only normalized automatic sensory filtering. By discovering a separate prefrontal perturbation in these animals and adopting a combinatorial pharmacological approach that also rescued its associated goal-directed noise filtering deficit, we achieved full normalization of noise hypersensitivity in this model. Overall, our work highlights the importance of identifying large-scale functional circuit architectures and utilizing them as access points for behavioral disease correction.

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8. Skafle I, Nordahl-Hansen A, Oien RA. Short Report : Social Perception of High School Students with ASD in Norway. J Autism Dev Disord ;2019 (Nov 6)

An increasing number of students with autism spectrum disorder (ASD) enroll in inclusive schools and classrooms. The aim of this study was to research how students with ASD experience the social aspect of inclusive high schools. Five adolescences with Asperger syndrome were interviewed, and the results show that high school was perceived as an important platform for social training, and an equally important place to find new friends and acquaintances. A majority of the participants had experienced loneliness and bullying in junior high school. However, they experienced high school as a new start, with a more open and inclusive environment. Nevertheless, several of the participants expressed that they used quite a lot of energy on social settings, such as interpreting social situations and on being amongst a larger group of students. In order to support this group of adolescents in their schooling, it is important to look at their strength and resources, and not only focus on the challenges and difficulties.

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9. Zuo C, Wang D, Tao F, Wang Y. Changes in the development of subcortical structures in autism spectrum disorder. Neuroreport ;2019 (Nov 6) ;30(16):1062-1067.

Many studies have reported abnormalities in the volume of subcortical structures in individuals with autism spectrum disorder (ASD), and many of these change with age. However, most studies that have investigated subcortical structures were cross-sectional and did not accurately segment the subcortical structures. In this study, we used volBrain, an automatic and reliable quantitative analysis tool, and a longitudinal design to examine developmental changes in the volume of subcortical structures in ASD, and quantified the relation between subcortical volume development and clinical correlates. Nineteen individuals with ASD (16 males ; age : 12.53 +/- 2.34 years at baseline ; interval : 2.33 years) and 14 typically developing controls (TDC ; 12 males ; age : 13.50 +/- 1.77 years at baseline ; interval : 2.31 years) underwent T1-weighted MRI at two time points. Bilaterally, hippocampus volume increased from baseline to follow-up in both ASD and TDC, with no difference between groups. Left caudate and right thalamus volume decreased in ASD, but did not change in TDC. The decreases in left caudate and right thalamus volume were related to ASD social score. Right amygdala volume was larger in ASD than in TDC at baseline but not at follow-up. These results confirm previous cross-sectional findings regarding the development of subcortical structures in ASD. The association between developmental changes in left caudate and right thalamus volume and ASD social score offers an explanation for the social deficits in ASD. Results also captured the different abnormality of amygdala volume between childhood and late adolescence.

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