Pubmed du 21/06/20

dimanche 21 juin 2020

1. Absence of Functional ACTL6B Gene is Potential Cause of Recessive Autism. Am J Med Genet A ;2020 (Jul) ;182(7):1549-1550.

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2. Aldinger KA, Timms AE, MacDonald JW, McNamara HK, Herstein JS, Bammler TK, Evgrafov OV, Knowles JA, Levitt P. Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain. Sci Data ;2020 (Jun 19) ;7(1):192.

Rett syndrome is an X-linked neurodevelopmental disorder caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2) in the majority of cases. We describe an RNA sequencing dataset of postmortem brain tissue samples from four females clinically diagnosed with Rett syndrome and four age-matched female donors. The dataset contains 16 transcriptomes, including two brain regions, temporal and cingulate cortex, for each individual. We compared our dataset with published transcriptomic analyses of postmortem brain tissue from Rett syndrome and found consistent gene expression alterations among regions of the cerebral cortex. Our data provide a valuable resource to explore the biology of the human brain in Rett syndrome.

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3. Barros F, Soares SC. Giving meaning to the social world in Autism Spectrum Disorders : Olfaction as a missing piece of the puzzle ?. Neurosci Biobehav Rev ;2020 (Jun 17)

Altered social cognition is a core feature of Autism Spectrum Disorders (ASD). These impairments have been explained as the consequence of compromised social motivational mechanisms that limit social interest and activate a cascade of social deficits. Following this rational, we argue that approaches capable of surpassing ASD usual restraints (e.g., deficits in verbal abilities), and able to assign social meaning, could be more effective at responding to these difficulties. In this framework, we propose that olfaction, as well as cross-modal integration strategies involving both visual and olfactory domains, may have such potential. In fact, most of socioemotional processing deficits in ASD have been shown in an uni-modal perspective, mainly with visual stimuli. However, the social environment involves other modalities and is typically multisensorial. Given the potential of olfaction as a gateway for socioemotional information in ASD, we argue in favor of studying olfactory perception, as well as visuo-olfactory integration, given the potential of these approaches to drive effective interventions and give the access to a meaningful social world in ASD.

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4. Billeci L, Caterino E, Tonacci A, Gava ML. Behavioral and Autonomic Responses in Treating Children with High-Functioning Autism Spectrum Disorder : Clinical and Phenomenological Insights from Two Case Reports. Brain Sci ;2020 (Jun 17) ;10(6)

In this study, we aimed to evaluate the process applied in subjects with Autism Spectrum Disorder (ASD) to elaborate and communicate their experiences of daily life activities, as well as to assess the autonomic nervous system response that subtend such a process. This procedure was evaluated for the first time in two eight-year-old girls with high-functioning ASDs. The subjects performed six months of training, based on the cognitive-motivational-individualized (c.m.i.(®)) approach, which mainly consisted in building domestic procedures and re-elaborating acquired experiences through drawing or the use of icons made by the children. Together with behavioral observations, the response of the autonomic nervous system during such re-elaboration was recorded. A change in communicative and interactive competences was observed, moving from a condition of spontaneity to one in which the girls were engaged in relating their experiences to a parent. Autonomic response highlighted how, in communicating their own experiences, they achieved a state of cognitive activation, which enabled a greater communicative and emotional connection with the interlocutor. This is a proof-of-concept study on the application of the c.m.i.(®), which needs to be extensively validated in the clinical setting.

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5. Breen MS, Browne A, Hoffman GE, Stathopoulos S, Brennand K, Buxbaum JD, Drapeau E. Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism. Mol Autism ;2020 (Jun 19) ;11(1):53.

BACKGROUND : Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the SHANK3 gene. To date, the molecular and pathway changes resulting from SHANK3 haploinsufficiency in PMS remain poorly understood. Uncovering these mechanisms is critical for understanding pathobiology of PMS and, ultimately, for the development of new therapeutic interventions. METHODS : We developed human-induced pluripotent stem cell (hiPSC)-based models of PMS by reprogramming peripheral blood samples from individuals with PMS (n = 7) and their unaffected siblings (n = 6). For each participant, up to three hiPSC clones were generated and differentiated into induced neural progenitor cells (hiPSC-NPCs ; n = 39) and induced forebrain neurons (hiPSC-neurons ; n = 41). Genome-wide RNA-sequencing was applied to explore transcriptional differences between PMS probands and unaffected siblings. RESULTS : Transcriptome analyses identified 391 differentially expressed genes (DEGs) in hiPSC-NPCs and 82 DEGs in hiPSC-neurons, when comparing cells from PMS probands and unaffected siblings (FDR < 5%). Genes under-expressed in PMS were implicated in Wnt signaling, embryonic development, and protein translation, while over-expressed genes were enriched for pre- and postsynaptic density genes, regulation of synaptic plasticity, and G-protein-gated potassium channel activity. Gene co-expression network analysis identified two modules in hiPSC-neurons that were over-expressed in PMS, implicating postsynaptic signaling and GDP binding, and both modules harbored a significant enrichment of genetic risk loci for developmental delay and intellectual disability. Finally, PMS-associated genes were integrated with other ASD hiPSC transcriptome findings and several points of convergence were identified, indicating altered Wnt signaling and extracellular matrix. LIMITATIONS : Given the rarity of the condition, we could not carry out experimental validation in independent biological samples. In addition, functional and morphological phenotypes caused by loss of SHANK3 were not characterized here. CONCLUSIONS : This is the largest human neural sample analyzed in PMS. Genome-wide RNA-sequencing in hiPSC-derived neural cells from individuals with PMS revealed both shared and distinct transcriptional signatures across hiPSC-NPCs and hiPSC-neurons, including many genes implicated in risk for ASD, as well as specific neurobiological pathways, including the Wnt pathway.

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6. Caruso A, Gila L, Fulceri F, Salvitti T, Micai M, Baccinelli W, Bulgheroni M, Scattoni ML. Early Motor Development Predicts Clinical Outcomes of Siblings at High-Risk for Autism : Insight from an Innovative Motion-Tracking Technology. Brain Sci ;2020 (Jun 16) ;10(6)

Atypical motor patterns are potential early markers and predictors of later diagnosis of Autism Spectrum Disorder (ASD). This study aimed to investigate the early motor trajectories of infants at high-risk (HR) of ASD through MOVIDEA, a semi-automatic software developed to analyze 2D and 3D videos and provide objective kinematic features of their movements. MOVIDEA was developed within the Italian Network for early detection of Autism Spectrum Disorder (NIDA Network), which is currently coordinating the most extensive surveillance program for infants at risk for neurodevelopmental disorders (NDDs). MOVIDEA was applied to video recordings of 53 low-risk (LR ; siblings of typically developing children) and 50 HR infants’ spontaneous movements collected at 10 days and 6, 12, 18, and 24 weeks. Participants were grouped based on their clinical outcome (18 HR received an NDD diagnosis, 32 HR and 53 LR were typically developing). Results revealed that early developmental trajectories of specific motor parameters were different in HR infants later diagnosed with NDDs from those of infants developing typically. Since MOVIDEA was useful in the association of quantitative measures with specific early motor patterns, it should be applied to the early detection of ASD/NDD markers.

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7. Churchill LE, Delk PR, Wilson TE, Torres-Martinez W, Rouse CE, Marine MB, Piechan JL. Fetal MRI and Ultrasound Findings of a Confirmed Asparagine Synthetase Deficiency (ASD) Case. Prenat Diagn ;2020 (Jun 21)

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8. Dutheil F, Comptour A, Mermillod M, Pereira B, Clinchamps M, Charkhabi M, Baker JS, Bourdel N. Letter to the Editor : Comment on "Maternal exposure to air pollution and risk of autism in children : A systematic review and meta-analysis". Environ Pollut ;2020 (Sep) ;264:114724.

Comment on "Maternal exposure to air pollution and risk of autism in children : A systematic review and meta-analysis". Some points and/or limitations of their review and meta-analysis should be discussed.

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9. Kawabe K, Hosokawa R, Nakachi K, Yoshino A, Horiuchi F, Ueno SI. Making brochure of Coronavirus disease (COVID-19) for children with autism spectrum disorder and their family members. Psychiatry Clin Neurosci ;2020 (Jun 20)

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10. Limbers CA, Gutierrez A, Cohen LA. The Patient-Centered Medical Home : Mental Health and Parenting Stress in Mothers of Children With Autism. J Prim Care Community Health ;2020 (Jan-Dec) ;11:2150132720936067.

Objective : This study examined the correlations between receiving care in patient-centered medical home and maternal reports of their mental health and parenting stress in a national sample of mothers of children with autism spectrum disorder (ASD). Method : Participants were 1108 mothers of children with ASD (average age = 10.6 years ; 81% male) from the 2011-2012 National Survey of Children’s Health. Multiple linear regression analysis and polynomial logistic regression analysis were used to evaluate if having a child with ASD cared for in a patient-centered medical home was significantly associated with maternal reports of their parenting stress and mental health. We also assessed whether 5 indicators of the American Academy of Pediatrics medical home definition were differentially associated with maternal outcomes. Results : Receiving care in a patient-centered medical home was associated with maternal reports of less parenting stress (standardized β = -0.201 ; P < .001) and better mental health (odds ratios range from 0.204 to 0.360 ; P < .001) after controlling for sociodemographic variables. Of the 5 indicators of the medical home definition, only effective care coordination was significantly associated with maternal perceptions of their parenting stress and mental health. Conclusion : Future longitudinal studies are needed to assess the temporal associations between patient-centered medical home status and maternal perceptions of their mental health and parenting stress in mothers of children with ASD.

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11. Mohammed Taresh S, Aniza Ahmad N, Roslan S, Ma’rof AM, Mohammed Zaid S. Mainstream Preschool Teachers’ Skills at Identifying and Referring Children with Autism Spectrum Disorder (ASD). Int J Environ Res Public Health ;2020 (Jun 16) ;17(12)

Background : Early intervention will help children with autism spectrum disorder (ASD) to attain early learning reinforcement. This study focuses on exploring the ability of preschool teachers to identify children with ASD and their referral decision-making process. Method : This is a mixed-method study (qualitative and quantitative methods) involving 20 respondents. The qualitative study is based on an open question case study, while the quantitative study consists of questionnaire with demographic variables to identify the effect of the demographic variables on the preschool teachers’ ability to identify children with ASD. Sample : The sample was selected via convenience sampling among mainstream preschool teachers. The data was analyzed using SPSS software and thematic analysis. Results : The findings show that preschool teachers did not have skills at identifying children with ASD, and the majority of them labelled children with ASD as spoilt or hyperactive children. They also viewed children with ASD as having other disorders such as attention deficit hyperactivity disorder (ADHD) or communication disorders such as introversion. Moreover, preschool teachers expressed that the reason for the child’s behaviour could be due to the parents’ inability to properly educate their child. Additionally, the demographic variables of the preschool teachers, such as age, education level and teaching experience, were found not to affect their ASD identification skills. Conclusion : Preschool teachers need to improve their skills in identifying ASD among children via training.

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