Pubmed du 30/11/18

vendredi 30 novembre 2018

1. Altun H, Kurutas EB, Sahin N, Gungor O, Findikli E. The Levels of Vitamin D, Vitamin D Receptor, Homocysteine and Complex B Vitamin in Children with Autism Spectrum Disorders. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology. 2018 ; 16(4) : 383-90.

Objective : Autism spectrum disorder (ASD) is a complex neurodevelopmental syndrome with an increasingly prevalent etiology, yet not fully understood. It has been thought that vitamin D, complex B vitamin levels and homocysteine are associated with environmental factors and are important in ASD. The aim of this study was to examine serum vitamin D, vitamin D receptor (VDR), homocysteine, vitamin B6, vitamin B12 and folate levels in ASD. Methods : In this study, serum vitamin D and VDR, homocysteine, vitamins B6, B12 and folate levels were determined in 60 patients with ASD (aged 3 to 12 years) and in 45 age-gender matched healthy controls. In addition, calcium, phosphorus and alkaline phosphatase, which are associated with vitamin D metabolism, were measured from serum in both groups. ASD severity was evaluted by the Childhood Autism Rating Scale (CARS). Results : Serum vitamin D and VDR were substantially reduced in patients with ASD in comparision to control group. However, homocysteine level was significantly higher and vitamin B6, vitamin B12 and folate were also reduced in patients with ASD. Total CARS score showed a positive association with homocysteine and a negative correlation with vitamins D,B6, B12, folate and VDR. Conclusion : This comprehensive study, which examines many parameters has shown that low serum levels of vitamins D, B6, B12, folate and VDR as well as high homocysteine are important in the etiopathogenesis of ASD. However, further studies are required to define the precise mechanism(s) of these parameters and their contributions to the etiology and treatment of ASD.

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2. Bozdogan ST, Kutuk MO, Tufan E, Altintas Z, Temel GO, Toros F. No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology. 2018 ; 16(4) : 415-21.

Objective : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods : Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Baskent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results : No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion : Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.

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3. Yoshimura Y, Kikuchi M, Hiraishi H, Hasegawa C, Hirosawa T, Takahashi T, Munesue T, Kosaka H, Hiagashida H, Minabe Y. Longitudinal changes in the mismatch field evoked by an empathic voice reflect changes in the empathy quotient in autism spectrum disorder. Psychiatry research Neuroimaging. 2018 ; 281 : 117-22.

Autism spectrum disorders (ASDs) are neurodevelopmental conditions with impairments in social communication and interaction. Empathy is the ability to understand and share another person’s inner life, and it is an essential process in social cognition, which is deficient in ASD. The mismatch field (MMF) has been used as a neurophysiological marker for the automatic detection of changes in auditory stimuli. In the present study, we focused on long-term changes in MMF evoked by an empathic voice and changes in the empathy quotient (EQ) in ASD during an 8-week clinical trial using oxytocin (OT). Ten males with ASD without intellectual disability participated in this pilot study. The results demonstrated a significant positive correlation between the change in the MMF amplitude in the auditory cortex (i.e., right banks of the superior sulcus) and the change in the EQ score during the 8-week clinical trial, whereas no significant change was observed in the MMF amplitude or EQ score after the administration period of OT. Although we cannot conclude that the observed relationships were caused by OT’s effect or by natural changes, our results suggest that MMF evoked by social voice can be a state-dependent marker of empathic abilities in male adults with ASD.

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