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. Kaluzna-Czaplinska J, Jozwik-Pruska J. {{Chromatographic and mass spectrometric techniques in studies on oxidative stress in autism}}. {J Chromatogr B Analyt Technol Biomed Life Sci};2015 (Dec 23)
Healthy body is characterized by the presence of a dynamic and balanced equilibrium between the production of reactive oxygen species (ROS) and the antioxidant capacity. In oxidative stress this balance is switched to reactions of oxidation leading to increased production of ROS, exceeding the capacity of physiological antioxidant systems. Oxidative stress is known to be linked to many disturbances, disorders and diseases. One of these is the autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder manifested by abnormalities in social communication and interaction, as well as by occurrence of repetitive, restricted patterns of behavior or activities. It is believed that adequate knowledge about the oxidative stress biomarkers and the possibility of their reliable measuring could be useful in broadening knowledge on various diseases including ASD. A high number of compounds have been proposed as biomarkers of oxidative stress. Some of these are connected with the severity of ASD. The present review gives a summary of the chromatographic techniques used for the determination of biomarkers for oxidative stress in autism, and of other compounds important in this context. The first part of the review focuses on the correlation between oxidative stress and autism. The second part describes applications of chromatographic and mass spectrometric methods to the analysis of different metabolites connected with oxidative stress in biological fluids of autistic children. Advantages as well as disadvantages of the application of these methods for the analysis of different types of oxidative stress biomarkers are discussed.
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3. 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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4. Klein N, Kemper KJ. {{Integrative Approaches to Caring for Children with Autism}}. {Curr Probl Pediatr Adolesc Health Care};2016 (Jan 6)
Parents commonly integrate complementary and alternative medical (CAM) treatments for autism spectrum disorder (ASD) with conventional care. The aims of this article are to (1) describe the most commonly used treatments, (2) assess their efficacy and safety, and (3) organize the information in practical format for practitioners. We organized treatment modalities into four categories: recommended, monitored, tolerated, and therapies that should be avoided. These four categories are based on a two by two table weighing a therapys effectiveness and safety. To meet the threshold for « recommended, » its effectiveness needed to be supported by two or more randomized, controlled trials. In addition to promoting an overall healthy lifestyle via nutrition, exercise, sleep, stress management, social support, and avoiding neurotoxins (healthy habits in a healthy habitat), the most promising therapies recommend are applied behavior analysis, parent-implemented training, melatonin supplements to improve sleep, supplements to correct deficiencies, and music therapy. Medications and restrictive diets may be helpful for some children, but use should be monitored given the risk of side effects. Most complementary therapies are safe, so they can be tolerated, but additional research is needed before they should be recommended. Given their risks, costs, and limited evidence of efficacy, chelation, secretin, and hyperbaric oxygen should be avoided.
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5. Leekam S. {{Social cognitive impairment and autism: what are we trying to explain?}}. {Philos Trans R Soc Lond B Biol Sci};2016 (Jan 19);371(1686)
Early psychological theories of autism explained the clinical features of this condition in terms of perceptual and sensory processing impairments. The arrival of domain-specific social cognitive theories changed this focus, postulating a ‘primary’ and specific psychological impairment of social cognition. Across the years, evidence has been growing in support of social cognitive and social attention explanations in autism. However, there has also been evidence for general non-social cognitive impairments in representational understanding, attention allocation and sensory processing. Here, I review recent findings and consider the case for the specificity and primacy of the social cognitive impairment, proposing that we should focus more explicitly on clinically valid features for insights on the integration of ‘social’ and ‘non-social’ cognition.
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6. 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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7. 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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8. 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.
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9. Randall M, Albein-Urios N, Brignell A, Gulenc A, Hennel S, Coates C, Symeonides C, Hiscock H, Marraffa C, Silove N, Bayl V, Woolfenden S, Williams K. {{Diagnosing autism: Australian paediatric research network surveys}}. {J Paediatr Child Health};2016 (Jan);52(1):11-17.
AIM: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with reported prevalence of more than 1/100. In Australia, paediatricians are often involved in diagnosing ASD and providing long-term management. However, it is not known how paediatricians diagnose ASD. This study aimed to investigate whether the way Australian paediatricians diagnose ASD is in line with current recommendations. METHODS: Members of the Australian Paediatric Research Network were invited to answer questions about their ASD diagnostic practice in a multi-topic survey and also as part of a study about parents needs around the time of a diagnosis of ASD. RESULTS: The majority of the 124 paediatricians who responded to the multi-topic survey and most who responded to the parent needs survey reported taking more than one session to make a diagnosis of ASD. Most paediatricians included information from preschool, child care or school when making a diagnosis, and over half included information from speech pathology or psychology colleagues more than 50% of the time. The main reasons for not including assessment information in the diagnostic process were service barriers such as no regular service available or long waiting lists. More than 70% reported ordering audiology and genetic tests more than half of the time. CONCLUSION: Not all paediatricians are following current recommendations for diagnosing ASD more than 50% of the time. While there are good reasons why current diagnostic approaches may fall short of expected standards, these need to be overcome to ensure diagnostic validity and optimal services for all children and their families.
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10. Salley B, Gabrielli J, Smith CM, Braun M. {{Do communication and social interaction skills differ across youth diagnosed with autism spectrum disorder, attention-deficit/hyperactivity disorder, or dual diagnosis?}}. {Res Autism Spectr Disord};2015 (Dec 1);20:58-66.
Given the well-documented symptom overlap between Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD), careful evaluation of potential differentiation and overlap is critical for accurate diagnostic decisions. Although research has considered the use of symptom checklists and parent/teacher report questionnaires for symptom differentiation, standardized observational methods, typically utilized in the context of ASD evaluation, have received less attention. The present study examined the continuum of communication and social interaction impairment for youth diagnosed with ASD and ADHD, as indexed by the Autism Diagnostic Observation Schedule (ADOS). Participants were 209 youth ages 3 to 18 years with ASD, ADHD, Dual Diagnosis (ASD+ADHD) or No Diagnosis. Differences across diagnostic groups were observed for mean communication and social interaction total scores on the ADOS, with the highest scores (i.e., greater impairment) observed for the ASD group and lowest scores for the ADHD and No Diagnosis groups. Results provide the first evidence for use of the ADOS for distinguishing youth who have ADHD alone versus ASD alone or co-occurring ASD+ADHD. Findings are discussed in light of implications for clinical practice and future research.
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11. Russo JF, Sheth SA, McKhann GM, 2nd. {{Using Deep Brain Stimulation to Rescue Memory in Rett Syndrome}}. {Neurosurgery};2016 (Feb);78(2):N16-17.
