1. {{Correction: The Little Prince: is not a glimpse into the world of autism}}. {Arch Dis Child};2018 (Mar 29)
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2. Campion D, Ponzo P, Alessandria C, Saracco GM, Balzola F. {{Role of microbiota in the autism spectrum disorders}}. {Minerva Gastroenterol Dietol};2018 (Mar 30)
Autism Spectrum Disorder (ASD) defines a set of neurodevelopmental disorders characterized by persistent deficits in social communication and interaction, along with repetitive patterns of behavior. Symptoms generally appear in the early developmental period and cause significant impairment in individual and social functioning. In recent years the increased prevalence of ASD, along with the evidence of a significant link between autism and gastrointestinal (GI) disturbances, raised a special interest in exploringi the reciprocal influences between gut and brain. Investigators highlighted the existence of a so-called « gut-brain axis », empowering the hypothesis that GI abnormalities could trigger neuropsychiatric symptoms in ASD. Intestinal microbiota is thought to play a pivotal role in gut and systemic homeostasis, in CNS development, as well as in behavioral modulation and recurrent microbial imbalances have been shown in gut microbiota of autistic people. In this review we analyze current knowledge about intestinal microbiota and the relevance and role of dysbiosis in ASD. The most accredited theories about gut-brain interaction will be reviewed, along with current scientific evidence supporting the relationship between microbial imbalances and impairment of neurodevelopment. Finally, we will focus on the results of different therapeutic approaches in this context: administration of pre- and probiotics, antibiotics, fecal microbiota transplantation and special diets and dietary supplements.
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3. Dahlhaus R. {{Of Men and Mice: Modeling the Fragile X Syndrome}}. {Front Mol Neurosci};2018;11:41.
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1, FXS is characterized by a variety of symptoms, which range from mental disabilities to autism and epilepsy. More than 20 years ago, a first animal model was described, the Fmr1 knock-out mouse. Several other models have been developed since then, including conditional knock-out mice, knock-out rats, a zebrafish and a drosophila model. Using these model systems, various targets for potential pharmaceutical treatments have been identified and many treatments have been shown to be efficient in preclinical studies. However, all attempts to turn these findings into a therapy for patients have failed thus far. In this review, I will discuss underlying difficulties and address potential alternatives for our future research.
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4. Eftekharian MM, Ghafouri-Fard S, Noroozi R, Omrani MD, Arsang-Jang S, Ganji M, Gharzi V, Noroozi H, Komaki A, Mazdeh M, Taheri M. {{Cytokine profile in autistic patients}}. {Cytokine};2018 (Mar 27);108:120-126.
The etiology of Autism Spectrum Disorders (ASDs) as severe neurodevelopmental ailments is not known. However, several evidences point to dysregulation of immune system as an underlying cause of ASD. In the present study we evaluated the mRNA expression levels of TNF-alpha, TGF-beta, IFN-gamma, CXCL8, IL-1beta, IL-2, 1L-4, IL-6, IL-17 in whole blood samples of 30 ASD patients and 41 age and sex-matched healthy subjects with means of real-time PCR. TNF-alpha, IL-6 and IL-17 have been shown to be significantly up-regulated in ASD patients compared with healthy subjects (P<0.0001, P=0.001 and P<0.0001 respectively). IL-2 has been shown to be significantly down-regulated in total ASD patients (P<0.0001). No significant difference has been found in expression levels of other cytokines between patients and healthy subjects. The present study provides further evidences for dysregulation of immune response in ASD patients. Lien vers le texte intégral (Open Access ou abonnement)
5. Evans SC, Boan AD, Bradley C, Carpenter LA. {{Sex/Gender Differences in Screening for Autism Spectrum Disorder: Implications for Evidence-Based Assessment}}. {J Clin Child Adolesc Psychol};2018 (Mar 30):1-15.
Autism spectrum disorder (ASD) is diagnosed more often in boys than in girls; however, little is known about the nature of this sex/gender discrepancy or how it relates to diagnostic assessment practices. This study examined the performance of the Social Communication Questionnaire (SCQ) in screening for ASD among boys and girls. Data were drawn from the South Carolina Children’s Educational Surveillance Study, a population-based study of ASD prevalence among children 8-10 years of age. Analyses were conducted using SCQ data from 3,520 children, with direct assessment data from 272 with elevated SCQ scores. A bifactor model based on the Diagnostic and Statistical Manual of Mental Disorders’s (5th ed.) two ASD symptom domains fit the data well and performed slightly better for girls. In the general population sample, girls exhibited fewer social communication/interaction and restricted-repetitive behavior symptoms than boys. In the direct assessment sample, however, girls with ASD showed greater impairment in social communication/interaction than boys with ASD. Items pertaining to social communication/interaction problems at ages 4-5 were among the most diagnostically efficient overall and particularly for girls. Similarly, receiver operating characteristic analyses suggested that the SCQ performs adequately among boys and well among girls. Results support the use of the SCQ in screening for ASD but do not indicate sex/gender-specific cutoffs. Girls with ASD may exhibit pronounced intraindividual deficits in social communication/interaction compared to male peers with ASD and female peers without ASD. Although more research is needed, careful attention to social communication/interaction deficits around 4-5 years of age may be especially useful for assessing ASD in girls.
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6. Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A. {{WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype}}. {Neurol Genet};2018 (Apr);4(2):e227.
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7. Rashid B, Blanken LME, Muetzel RL, Miller R, Damaraju E, Arbabshirani MR, Erhardt EB, Verhulst FC, van der Lugt A, Jaddoe VWV, Tiemeier H, White T, Calhoun V. {{Connectivity dynamics in typical development and its relationship to autistic traits and autism spectrum disorder}}. {Hum Brain Mapp};2018 (Mar 30)
Recent advances in neuroimaging techniques have provided significant insights into developmental trajectories of human brain function. Characterizations of typical neurodevelopment provide a framework for understanding altered neurodevelopment, including differences in brain function related to developmental disorders and psychopathology. Historically, most functional connectivity studies of typical and atypical development operate under the assumption that connectivity remains static over time. We hypothesized that relaxing stationarity assumptions would reveal novel features of both typical brain development related to children on the autism spectrum. We employed a « chronnectomic » (recurring, time-varying patterns of connectivity) approach to evaluate transient states of connectivity using resting-state functional MRI in a population-based sample of 774 6- to 10-year-old children. Dynamic connectivity was evaluated using a sliding-window approach, and revealed four transient states. Internetwork connectivity increased with age in modularized dynamic states, illustrating an important pattern of connectivity in the developing brain. Furthermore, we demonstrated that higher levels of autistic traits and ASD diagnosis were associated with longer dwell times in a globally disconnected state. These results provide a roadmap to the chronnectomic organization of the developing brain and suggest that characteristics of functional brain connectivity are related to children on the autism spectrum.
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8. Someki F, Torii M, Brooks PJ, Koeda T, Gillespie-Lynch K. {{Stigma associated with autism among college students in Japan and the United States: An online training study}}. {Res Dev Disabil};2018 (Mar 27);76:88-98.
Misconceptions and stigma associated with autism vary across cultures and may be influenced by various factors. Undergraduates in Japan (N=212) and the United States (US) (N=365) completed an online autism training, with pre- and posttest surveys assessing autism-related stigma (i.e., social distance) and knowledge. Aims were to examine differences in autism stigma and knowledge in Japan and the US, while extending prior research demonstrating benefits of an online autism training in the US and Lebanon to Japan. The results revealed that Japanese students indicated greater autism-related stigma than US students, which was not attributable to differences in autism knowledge, prior experience with autism, or college major. In both countries, students majoring in « helping professions » exhibited greater willingness to engage with people with autism. Japanese and US students varied in their misconceptions about autism, with significant differences on about half of the knowledge items. Japanese students showed decreased stigma after completing the autism training, yet continued to exhibit greater social distance towards people with autism relative to US students. Future research should focus on identifying specific cultural factors (e.g., conformity to social norms and homogeneity within communities) that contribute to fear and exclusion of people with autism in different societies.
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9. Zhou XH, Li YJ, Ou JJ, Li YM. {{Association between maternal antidepressant use during pregnancy and autism spectrum disorder: an updated meta-analysis}}. {Mol Autism};2018;9:21.
Studies have investigated the risk of autism spectrum disorder (ASD) in children exposed in utero to antidepressant, with inconsistent results. Given the substantial public health implications on this topic, here, we presented an updated meta-analysis of the association between maternal antidepressant use during pregnancy and ASD. Cochrane Library, EMBASE, PsycINFO, and PubMed databases were systematically searched. A random effects model was used to pool the adjusted relative risk (RR) for cohort studies and the adjusted odds ratio (OR) for case-control studies as well as their corresponding 95% confidence intervals (CIs). Meta-analysis restricted to sibling studies was also conducted. Publication bias was systematically assessed. Fourteen studies were identified (eight cohort studies and six case-control studies). Pooled adjusted RR for cohort studies (n = 2,839,980) was 1.13 (0.93-1.39) showed a non-significant association; while two studies were potentially missing from the test of publication bias, filled estimates also showed a non-significant association (filled RR 0.97, 95% CI 0.79-1.19). Pooled OR was 1.51 (1.15-1.99) for case-control studies (n = 117,737) showed a significant association; two studies were potentially missing; however, the filled estimates suggested a non-significant association (filled OR 1.26, 95% CI 0.98-1.62). Analyses restricted to sibling studies also showed a non-significant association (RR 0.99, 95% CI 0.81-1.22). In summary, we did not evidence a significant association between maternal antidepressant use during pregnancy and ASD.