1. Herguner A, Herguner S. {{Pica in an Adolescent with Autism Spectrum Disorder Responsive to Aripiprazole}}. {J Child Adolesc Psychopharmacol};2016 (Jan 18)
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2. Karhson DS, Golob EJ. {{Atypical sensory reactivity influences auditory attentional control in adults with autism spectrum disorders}}. {Autism Res};2016 (Jan 18)
Frequent observations of atypical sensory reactivity in people with autism spectrum disorders (ASD) suggest that the perceptual experience of those on the Spectrum is dissimilar to neurotypicals. Moreover, variable attention abilities in people with ASD, ranging from good control to periods of high distractibility, may be related to atypical sensory reactivity. This study used auditory event-related potential (ERP) measures to evaluate top-down and bottom-up attentional processes as a function of perceptual load, and examined these factors with respect to sensory reactivity. Twenty-five age and IQ-matched participants (ASD: 22.5 year, SD = 4.1 year; Controls: 22.8 year, SD = 5.1 year) completed the Adolescent/Adult Sensory Profile prior to performing a modified 3-stimulus (target, non-target, and distractor) auditory oddball target detection task EEG was recorded during task completion. ERP analysis assessed early sensory processing (P50, approximately 50 ms latency; N100, approximately 100 ms latency), cognitive control (N200, approximately 200 ms latency), and attentional processing (P3a and P3b, approximately 300 ms latency). Behavioral data demonstrates participants with ASD and neurotypical performed similarly on auditory target detection, but diverged on sensory profiles. Target ERP measures associated with top-down control (P3b latency) significantly increased under greater load in controls, but not in participants with ASD. Early ERP responses associated with bottom-up attention (P50 amplitude) were positively correlated to increased sensory sensitivity. Findings suggest specific neural mechanisms for increased perceptual capacity and enhanced bottom-up processing of sensory stimuli in people with autism. Results from participants with ASD are consistent with load theory and enhanced perceptual functioning. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Oikonomakis V, Kosma K, Mitrakos A, Sofocleous C, Pervanidou P, Syrmou A, Pampanos A, Psoni S, Fryssira H, Kanavakis E, Kitsiou-Tzeli S, Tzetis M. {{Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications}}. {Clin Genet};2016 (Jan 18)
Chromosomal Microarray Analysis (CMA) is currently considered a first tier diagnostic assay for the investigation of Autism Spectrum Disorders (ASD), developmental delay (DD) and intellectual disability (ID) of unknown etiology. High resolution arrays were utilized for the identification of Copy Number Variations (CNVs) in 195 ASD patients of Greek origin (126 males, 69 females). CMA resulted in the detection of 65 CNVs, excluding the known polymorphic CNPs also found in the database of genomic variants (DGV), for 51/195 patients (26.1%). Parental DNA testing in 20/51 patients revealed that 17 CNVs were de novo, 6 paternal and 3 of maternal origin. The majority of the 65 CNVs were deletions (66.1%), of which 5 on the X-chromosome while the duplications, of which 7 on the X-chromosome, were rarer (22/65, 33.8%). Fifty-one CNVs from a total of 65, reported for our cohort of ASD patients, were of diagnostic significance and well described in the literature while 14 CNVs (8 losses, 6 gains) were characterized as Variants of Unknown Significance (VOUS) and need further investigation. Amongst the 51 patients 39 carried one CNV, 10 carried two CNVs and 2 carried three CNVs. The use of CMA, its clinical validity and utility was assessed.
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4. Song Y, Hakoda Y, Sang B. {{A selective impairment in extracting fearful information from another’s eyes in Autism}}. {Autism Res};2016 (Jan 18)
An atypical pattern of facial expression processing in children with autism spectrum disorder (ASD) has been discussed in previous studies. In this study, we systematically examined the hypothesis of selective abnormality of gaze pattern of in children with ASD using three emotion judgment « bubble » tasks. In this study, we used a data-driven driven technique, referred to as « Bubbles » to examine the hypothesis that ASD children will not show a general but rather a selective abnormality in extracting eyes information expressed by different emotions. Results indicated that similar to non-ASD individuals, ASD individuals used information from other people’s eyes to judge happiness and anger. In contrast, ASD individuals showed a remarkable reduction in processing the eye region in fearful face, together with enhanced processing of the mouth, compared with the control group. The results suggest that a selective abnormality in extracting eyes information of fearful face without abnormality in processing eyes area of other basic facial emotions is a key and characteristic feature of autistic facial cognition. To our knowledge, this finding regarding the selective abnormality in extracting fearful information from another’s eyes in ASDs has never been reported in previous studies and the information gathered as a part of this pilot research project has important clinical implications for social information processing training. For example, as children with ASD are more vulnerable to fear processing, training related to fear should be stressed. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Vanwong N, Ngamsamut N, Medhasi S, Puangpetch A, Chamnanphon M, Tan-Kam T, Hongkaew Y, Limsila P, Sukasem C. {{Impact of CYP2D6 Polymorphism on Steady-State Plasma Levels of Risperidone and 9-Hydroxyrisperidone in Thai Children and Adolescents with Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2016 (Jan 18)
OBJECTIVE: The purpose of this study was to investigate the influence of CYP2D6 gene polymorphisms on plasma concentrations of risperidone and its metabolite in Thai children and adolescents with autism spectrum disorder (ASD). METHODS: All 97 autism spectrum disorder patients included in this study had been receiving risperidone at least for 1 month. The CYP2D6 genotypes were determined by real-time polymerase chain reaction (PCR)-based allelic discrimination for CYP2D6*4, *10, and *41 alleles. Plasma concentrations of risperidone and 9-hydroxyrisperidone were measured using liquid chromatography-tandem mass spectrometry (LC-MS/MS). RESULTS: Among the 97 patients, the most important nonfunctional alleles (CYP2D6*4 and *5) were detected, whereas the most common allele was CYP2D6*10 (55.9%). CYP2D6 genotyping revealed 90 (92.78%) patients to be extensive metabolizers (EM) and 7 (7.22%) to be intermediate metabolizers (IM). Plasma levels of risperidone were significantly higher in individuals with CYP2D6*5/*10 (p = 0.02), CYP2D6*10/*10 (p = 0.04), and CYP2D6*10/*41 (p = 0.04). Additionally, the plasma concentration of risperidone/9-OH risperidone ratio in patients with a CYP2D6 activity score of 0.5 were significantly higher than those with a CYP2D6 activity score of 2 (p = 0.04). Conversely, no significant influence was found among CYP2D6 polymorphisms, plasma concentrations of 9-hydroxyrisperidone, and the total active moiety. CONCLUSIONS: This is the first study to investigate the effects of CYP2D6 genetic polymorphisms on the plasma concentrations of risperidone in Thai children with ASD. The findings indicate that CYP2D6 polymorphisms affect the plasma concentrations of risperidone and the risperidone/9-hydroxyrisperidone ratio. Genetic screening for CYP2D6 polymorphisms could help to predict unexpected adverse events caused by the higher plasma concentration of risperidone.
