1. Ackerman S, Schoenbrun S, Hudac C, Bernier R. {{Erratum to: Interactive Effects of Prenatal Antidepressant Exposure and Likely Gene Disrupting Mutations on the Severity of Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Sep 08)
Lien vers le texte intégral (Open Access ou abonnement)
2. Cai T, Chen X, Li J, Xiang B, Yang L, Liu Y, Chen Q, He Z, Sun K, Liu PP. {{Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities}}. {Am J Hematol};2017 (Sep 10)
Lien vers le texte intégral (Open Access ou abonnement)
3. Kennedy T, Broadie K. {{Fragile X Mental Retardation Protein Restricts Small Dye Iontophoresis Entry into Central Neurons}}. {J Neurosci};2017 (Sep 08)
Fragile X Mental Retardation Protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity and seizures. FMRP is both an RNA- and channel-binding regulator, with critical roles in neural circuit formation and function. However, it remains unclear how these FMRP activities relate to each other and how dysfunction in their absence underlies FXS neurological symptoms. In testing circuit level defects in the Drosophila FXS model, we discovered a completely unexpected and highly robust neuronal dye iontophoresis phenotype in the well-mapped Giant Fiber (GF) circuit. Controlled dye injection into the GF Interneuron (GFI) results in a dramatic increase in dye uptake in neurons lacking FMRP. Transgenic wildtype FMRP reintroduction rescues the mutant defect, demonstrating a specific FMRP requirement. This phenotype affects only small dyes, but is independent of dye charge polarity. Surprisingly, the elevated dye iontophoresis persists in shaking B mutants that eliminate gap junctions and dye coupling among GF circuit neurons. We therefore used a wide range of manipulations to investigate the dye uptake defect, including timed injection series, pharmacology and ion replacement, and optogenetic activity studies. The results show FMRP strongly limits the rate of dye entry via a cytosolic mechanism. This study reveals an unexpected new phenotype in a physical property of central neurons lacking FMRP that could underlie aspects of FXS disruption of neural function.SIGNIFICANCE STATEMENTFXS is a leading heritable cause of intellectual disability and autism spectrum disorders. Although researchers established the causal link with FMRP loss over 25 years ago, studies continue to reveal diverse FMRP functions. The Drosophila FXS model is key to discovering new FMRP roles, owing to its genetic malleability and individually-identified neuron maps. Taking advantage of a well-characterized Drosophila neural circuit, we discovered that neurons lacking FMRP take up dramatically more current-injected small dye. After examining many neuronal properties, we determined that this dye defect is cytoplasmic and occurs due to a highly elevated dye iontophoresis rate. We also report several new factors affecting neuron dye uptake. Understanding how FMRP regulates iontophoresis should reveal new molecular factors underpinning FXS dysfunction.
Lien vers le texte intégral (Open Access ou abonnement)
4. Li L, Li XL, Wu WX, Cai XF, Fan XL, Wei XH, Sun TT. {{[Cross-sectional survey of autism spectrum disorders in children aged 0-6 years in Hainan province]}}. {Zhonghua Liu Xing Bing Xue Za Zhi};2017 (Sep 10);38(9):1187-1190.
Objective: To understand the prevalence of autism spectrum disorders (ASD) in children aged 0-6 years old and influencing factors in Hainan province. Methods: A total of 37 862 children aged 0-6 years were selected from 18 counties in Hainan province for a screening by using questionnaire of »warning signs in child development », then field diagnosis was made, and general descriptive statistic analysis was conducted. The prevalence of ASD and related factors were analyzed with chi(2) test and unconditional logistic regression model. Results: Among 37 862 children aged 0-6 years, 235 were diagnosed with ASD, the prevalence of ASD was 0.62% (0.99% in boys, 0.17% in girls), the differences was significant (chi(2)=101.91, P=0.000). The prevalence of ASD increased with age (chi(2)=288.62, P=0.000). The prevalence of ASD was significantly higher in urban area than in other areas (chi(2)=114.77, P=0.000). Factors such as full term pregnancy or not, neonatal asphyxia, father’s characteristics, father’s habit of chewing areca or smoking, mother’s general mood, and mother’s induced abortion history were the influencing factors for ASD. Conclusion: The prevalence of ASD in children aged 0-6 years was high in Hainan and was influenced by genetic factors, pregnancy and delivery process, parents unhealthy habit before and during pregnancy and other factors.
Lien vers le texte intégral (Open Access ou abonnement)
5. Lodhia V, Hautus MJ, Johnson BW, Brock J. {{Atypical brain responses to auditory spatial cues in adults with autism spectrum disorder}}. {Eur J Neurosci};2017 (Sep 09)
The auditory processing atypicalities experienced by many individuals on the autism spectrum disorder might be understood in terms of difficulties parsing the sound energy arriving at the ears into discrete auditory « objects. » Here we asked whether autistic adults are able to make use of two important spatial cues to auditory object formation – the relative timing and amplitude of sound energy at the left and right ears. Using electroencephalography, we measured the brain responses of 15 autistic adults and 15 age-and verbal-IQ-matched control participants as they listened to dichotic pitch stimuli – white noise stimuli in which interaural timing or amplitude differences applied to a narrow frequency band of noise typically lead to the perception of a pitch sound that is spatially segregated from the noise. Responses were contrasted with those to stimuli in which timing and amplitude cues were removed. Consistent with our previous studies, autistic adults failed to show a significant Object Related Negativity (ORN) for timing-based pitch, although their ORN was not significantly smaller than that of the control group. Autistic participants did show an ORN to amplitude cues, indicating that they do not experience a general impairment in auditory object formation. However, their P400 response – thought to indicate the later attention-dependent aspects of auditory object formation – was missing. These findings provide further evidence of atypical auditory object processing in autism with potential implications for understanding the perceptual and communication difficulties associated with the condition. This article is protected by copyright. All rights reserved.
Lien vers le texte intégral (Open Access ou abonnement)
6. Mirfakhraie R. {{The association between FOXP3 gene variations and autism: True or false positive?}}. {Gene};2017 (Sep 05)
