Pubmed du 31/12/17

dimanche 31 décembre 2017

1. Kozou H, Azouz HG, Abdou RM, Shaltout A. Evaluation and remediation of central auditory processing disorders in children with autism spectrum disorders. Int J Pediatr Otorhinolaryngol. 2018 ; 104 : 36-42.

OBJECTIVES : This study was carried out to assess various skills of central auditory processing (CAP) in children with autism spectrum disorders (ASD) and to evaluate the efficacy of auditory training in these children. METHODS : This study is a non-randomized clinical experiment. 30 high functioning ASD children aged from 7 to 12 years were included in the study. They underwent behavioral assessments of CAP skills with subsequent remediation by dichotic training therapy for the children who revealed dichotic deficits. RESULTS : Scores of CAP skills in ASD children are wide-ranging from completely normal to substantially defective and generally lower than those of typically developing children. By auditory training, ASD children improved their dichotic deficits as well as other untrained areas of auditory and language processing skills. CONCLUSIONS : A group of ASD children showed different degrees of abnormalities in CAP that could be measured behaviorally and achieved benefits from auditory training in improving their dichotic listening, auditory and language processing skills.

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2. Matsui F, Hecht P, Yoshimoto K, Watanabe Y, Morimoto M, Fritsche K, Will M, Beversdorf D. DHA Mitigates Autistic Behaviors Accompanied by Dopaminergic Change in a Gene/Prenatal Stress Mouse Model. Neuroscience. 2017.

Autism Spectrum Disorder (ASD) is characterized by impairments in social interaction, social communication, and repetitive and stereotyped behaviors. Recent work has begun to explore genexenvironmental interactions in the etiology of ASD. We previously reported that prenatal stress exposure in stress-susceptible heterozygous serotonin transporter (SERT) KO pregnant dams in a mouse model resulted in autism-like behavior in the offspring (SERT/S mice). The association between prenatal stress and ASD appears to be affected by maternal SERT genotype in clinical populations as well. Using the mouse model, we examined autistic-like behaviors in greater detail, and additionally explored whether diet supplementation with docosahexaenoic acid (DHA) may mitigate the behavioral changes. Only male SERT/S mice showed social impairment and stereotyped behavior, and DHA supplementation ameliorated some of these behaviors. We also measured monoamine levels in the SERT/S mice after three treatment paradigms : DHA-rich diet continuously from breeding (DHA diet), DHA-rich diet only after weaning (CTL/DHA diet) and control diet only (CTL diet). The dopamine (DA) content in the striatum was significantly increased in the SERT/S mice compared with wild-type (WT) mice, whereas no difference was observed with noradrenaline and serotonin content. Moreover, DA content in the striatum was significantly reduced in the SERT/S mice with the DHA-rich diet provided continuously from breeding. The results indicate that autism-associated behaviors and changes in the dopaminergic system in this setting can be mitigated with DHA supplementation.

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3. McDermott JH, Study DDD, Clayton-Smith J, Briggs TA. The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum. European journal of medical genetics. 2017.

A diverse range of genetic aberrations can lead to Autistic Spectrum Disorder (ASD) and many of these have been identified via Next Generation Sequencing (NGS) as part of large scale consortium studies. ASD is a phenotypically variable disorder and detailed clinical descriptions are essential to appreciate genotype-phenotype relationships. In this report, we provide a comprehensive clinical description of a child with ASD in whom a TBR1 variant was identified. We review this case in the context of the current TBR1 literature and highlight the variable spectrum of disease associated with this gene. The phenotypic information outlined within the literature is incomplete, exemplifying the limitations of massively-parallel sequencing studies with regards to clinical annotation. We suggest that future reporting of ASD variants should include standardised phenotypic descriptions. This would develop a more thorough understanding of genotype-phenotype relationship, so allowing us to better counsel and support our patients.

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