1. Aoki Y, Cortese S. {{Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis}}. {Mol Neurobiol};2015 (Feb 10)
Mitochondrial dysfunction has been reported to be involved in the pathophysiology of autism spectrum disorder (ASD). Studies investigating the possible association between ASD and polymorphism in SLC25A12, which encodes the mitochondrial aspartate/glutamate carrier, have yielded inconsistent results. We conducted a systematic review and meta-analysis of such studies to elucidate if and which SLC25A12 single nucleotide polymorphisms (SNPs) are associated with ASD. We searched PubMed, Ovid, Web of Science, and ERIC databases through September 20th, 2014. Odds ratios (ORs) were aggregated using random effect models. Sensitivity analyses were conducted based on study design (family-based or case-control). Fifteen out of 79 non-duplicate records were retained for qualitative synthesis. We pooled 10 datasets from 9 studies with 2001 families, 735 individuals with ASD and 632 typically developing (TD) individuals for the meta-analysis of rs2292813, as well as 11 datasets from 10 studies with 2016 families, 852 individuals with ASD and 1058 TD individuals for the meta-analysis of rs2056202. We found a statistically significant association between ASD and variant in rs2292813 (OR = 1.190, 95 % CI 1.052-1.346, P = 0.006) as well as in rs2056202 (OR = 1.206, 95 % CI 1.035-1.405, P = 0.016). Sensitivity analyses including only studies with family-based design demonstrated significant association between ASD and polymorphism in rs2292813 (OR = 1.216, 95 % CI 1.075-1.376, P = 0.002) and rs2056202 (OR = 1.267, 95 % CI 1.041-1.542, P = 0.018). In contrast, sensitivity analyses including case-control design studies only failed to find a significant association. Further research on the role of SLC25A12 and ASD may pave the way for potential innovative therapeutic interventions.
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2. Attlee A, Kassem H, Hashim M, Obaid RS. {{Physical Status and Feeding Behavior of Children with Autism}}. {Indian J Pediatr};2015 (Feb 10)
OBJECTIVE: To assess the physical status and feeding behavior among children with autism. METHODS: Twenty three autistic children aged 5-16 y enrolled in Sharjah Autism Center were studied. A questionnaire was administered to the parents of these children. Demographic information; gastrointestinal symptoms; mealtime behavior through Brief Assessment of Mealtime Behavior Inventory, Food Preference Inventory; and nutrient intake through a 3 day food record were collected. Physical status was determined in terms of height, weight and body mass index. RESULTS: Male-female ratio of autism in the sample was 3.6:1. Twelve children were obese and another 5 were overweight. Mealtime behavior revealed that 69.6 % of the children never/rarely cried/screamed during mealtimes, turned their face or body away from food (52 %), or expelled food (61 %) that he/she has eaten. Food Preference Inventory showed food refusal of 59.1 +/- 20.6 % for combined food groups in autistic children. Specifically, higher preference was found for starches (55.8 %) and least for protein (32.6 %). A 3 day food record revealed that their diets were repetitive with limited variety and evidence of nutrient inadequacy. CONCLUSIONS: Comparatively higher enrolment of males with autism was found and three-fourth of the total children had difficulty in maintaining normal weight. Mealtime behavior concerns were displayed occasionally including rigidity in mealtime routines, unwillingness to try new foods and not being able to be seated until the meal was finished. High rates of food rejection, notably protein and limited variety resulting into nutrient inadequacy were evident.
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3. Auyeung B, Lombardo MV, Heinrichs M, Chakrabarti B, Sule A, Deakin JB, Bethlehem RA, Dickens L, Mooney N, Sipple JA, Thiemann P, Baron-Cohen S. {{Oxytocin increases eye contact during a real-time, naturalistic social interaction in males with and without autism}}. {Transl Psychiatry};2015;5:e507.
Autism spectrum conditions (autism) affect ~1% of the population and are characterized by deficits in social communication. Oxytocin has been widely reported to affect social-communicative function and its neural underpinnings. Here we report the first evidence that intranasal oxytocin administration improves a core problem that individuals with autism have in using eye contact appropriately in real-world social settings. A randomized double-blind, placebo-controlled, within-subjects design is used to examine how intranasal administration of 24 IU of oxytocin affects gaze behavior for 32 adult males with autism and 34 controls in a real-time interaction with a researcher. This interactive paradigm bypasses many of the limitations encountered with conventional static or computer-based stimuli. Eye movements are recorded using eye tracking, providing an objective measurement of looking patterns. The measure is shown to be sensitive to the reduced eye contact commonly reported in autism, with the autism group spending less time looking to the eye region of the face than controls. Oxytocin administration selectively enhanced gaze to the eyes in both the autism and control groups (transformed mean eye-fixation difference per second=0.082; 95% CI:0.025-0.14, P=0.006). Within the autism group, oxytocin has the most effect on fixation duration in individuals with impaired levels of eye contact at baseline (Cohen’s d=0.86). These findings demonstrate that the potential benefits of oxytocin in autism extend to a real-time interaction, providing evidence of a therapeutic effect in a key aspect of social communication.
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4. Cadman T, Spain D, Johnston P, Russell A, Mataix-Cols D, Craig M, Deeley Q, Robertson D, Murphy C, Gillan N, Wilson CE, Mendez M, Ecker C, Daly E, Findon J, Glaser K, Happe F, Murphy D. {{Obsessive-Compulsive Disorder in Adults with High-Functioning Autism Spectrum Disorder: What Does Self-Report with the OCI-R Tell Us?}}. {Autism Res};2015 (Feb 7)
Little is known about the symptom profile of obsessive-compulsive disorder (OCD) in individuals who have autism spectrum disorders (ASD). It is also unknown whether self-report questionnaires are useful in measuring OCD in ASD. We sought to describe the symptom profiles of adults with ASD, OCD, and ASD + OCD using the Obsessive Compulsive Inventory-Revised (OCI-R), and to assess the utility of the OCI-R as a screening measure in a high-functioning adult ASD sample. Individuals with ASD (n = 171), OCD (n = 108), ASD + OCD (n = 54) and control participants (n = 92) completed the OCI-R. Individuals with ASD + OCD reported significantly higher levels of obsessive-compulsive symptoms than those with ASD alone. OCD symptoms were not significantly correlated with core ASD repetitive behaviors as measured on the ADI-R or ADOS-G. The OCI-R showed good psychometric properties and corresponded well with clinician diagnosis of OCD. Receiver operating characteristic analysis suggested cut-offs for OCI-R Total and Checking scores that discriminated well between ASD + versus -OCD, and fairly well between ASD-alone and OCD-alone. OCD manifests separately from ASD and is characterized by a different profile of repetitive thoughts and behaviors. The OCI-R appears to be useful as a screening tool in the ASD adult population. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Conson M, Mazzarella E, Esposito D, Grossi D, Marino N, Massagli A, Frolli A. {{« Put Myself Into Your Place »: Embodied Simulation and Perspective Taking in Autism Spectrum Disorders}}. {Autism Res};2015 (Feb 7)
Embodied cognition theories hold that cognitive processes are grounded in bodily states. Embodied processes in autism spectrum disorders (ASD) have classically been investigated in studies on imitation. Several observations suggested that unlike typical individuals who are able of copying the model’s actions from the model’s position, individuals with ASD tend to reenact the model’s actions from their own egocentric perspective. Here, we performed two behavioral experiments to directly test the ability of ASD individuals to adopt another person’s point of view. In Experiment 1, participants had to explicitly judge the left/right location of a target object in a scene from their own or the actor’s point of view (visual perspective taking task). In Experiment 2, participants had to perform left/right judgments on front-facing or back-facing human body images (own body transformation task). Both tasks can be solved by mentally simulating one’s own body motion to imagine oneself transforming into the position of another person (embodied simulation strategy), or by resorting to visual/spatial processes, such as mental object rotation (nonembodied strategy). Results of both experiments showed that individual with ASD solved the tasks mainly relying on a nonembodied strategy, whereas typical controls adopted an embodied strategy. Moreover, in the visual perspective taking task ASD participants had more difficulties than controls in inhibiting other-perspective when directed to keep one’s own point of view. These findings suggested that, in social cognitive tasks, individuals with ASD do not resort to embodied simulation and have difficulties in cognitive control over self- and other-perspective. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Davis G, Plaisted-Grant K. {{Response to commentaries on ‘Low endogenous neural noise in autism’}}. {Autism};2015 (Feb 6)
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7. Eriksson MA, Lieden A, Westerlund J, Bremer A, Wincent J, Sahlin E, Gillberg C, Fernell E, Anderlid BM. {{Rare copy number variants are common in young children with autism spectrum disorder}}. {Acta Paediatr};2015 (Feb 6)
AIM: Several studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the study were to use chromosomal microarray to investigate the presence of rare copy number variants in a population-based cohort of well-characterised young children with autism spectrum disorders and to relate the genetic results to neurodevelopmental profiles and medical conditions. METHODS: We performed chromosomal microarray on samples from 162 children who had been referred to the Stockholm Autism Centre for Young Children in Sweden after being diagnosed with autism spectrum disorder between 20 and 54-months-of-age. RESULTS: Pathogenic aberrations were detected in 8.6% of the children and variants of uncertain significance were present in another 8.6%. CNVs were more frequent in children with congenital malformations or dysmorphic features as well as in the subgroup with intellectual disability. CONCLUSION: Our results support the use of chromosomal microarray methods for the first tier genetic analysis of autism spectrum disorder. However, it is likely in the near future that chromosomal microarray methods will probably be replaced by whole exome and whole genome sequencing technologies in clinical genetic testing. This article is protected by copyright. All rights reserved.
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8. Jefferson A, Fyfe S, Downs J, Woodhead H, Jacoby P, Leonard H. {{Longitudinal bone mineral content and density in Rett syndrome and their contributing factors}}. {Bone};2015 (Feb 6)
Bone mass and density are low in females with Rett syndrome. This study used Dual energy x-ray absorptiometry to measure annual changes in z-scores for areal bone mineral density (aBMD) and bone mineral content (BMC) in the lumbar spine and total body in an Australian Rett syndrome cohort at baseline and then after three to four years. Bone mineral apparent density (BMAD) was calculated in the lumbar spine. Annual changes in lean tissue mass (LTM) and bone area (BA) were also assessed. The effects of age, genotype, mobility, menstrual status and epilepsy diagnosis on these parameters were also investigated. The baseline sample included 97 individuals who were representative of the total live Australian Rett syndrome population under 30years in 2005 (n=274). Of these 74 had a follow-up scan. Less than a quarter of females were able to walk on their own at follow-up. Bone area and LTM z-scores declined over the time between the baseline and follow-up scans. Mean height-standardised z-scores for the bone outcomes were obtained from multiple regression models. The lumbar spine showed a positive mean annual BMAD z-score change (0.08) and a marginal decrease in aBMD (-0.04). The mean z-score change per annum for those ‘who could walk unaided’ was more positive for LS BMAD (p=0.040). Total body BMD mean annual z-score change from baseline to follow-up was negative (-0.03). However this change was positive in those who had achieved menses prior to the study (0.03, p=0,040). Total body BMC showed the most negative change (-0.60), representing a decrease in bone mineral content over time. This normalised to a z-score change of 0.21 once adjusted for the reduced lean tissue mass mean z-score change (-0.21) and bone area mean z-score change (-0.14). Overall, the bone mineral content, bone mineral density, bone area and lean tissue mass z-scores for all outcome measures declined, with the TB BMC showing significant decreases. Weight, height and muscle mass appear to have impacts on bone formation and we recommend that nutritional intake should be closely monitored and a physical activity plan developed to optimise bone health. Pubertal progression should also be assessed in conjunction with serial densitometry assessments to track bone mass and density changes over time.
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9. Jin LW, Horiuchi M, Wulff H, Liu XB, Cortopassi GA, Erickson JD, Maezawa I. {{Dysregulation of Glutamine Transporter SNAT1 in Rett Syndrome Microglia: A Mechanism for Mitochondrial Dysfunction and Neurotoxicity}}. {J Neurosci};2015 (Feb 11);35(6):2516-2529.
Rett syndrome (RTT) is an autism spectrum disorder caused by loss-of-function mutations in the gene encoding MeCP2, an epigenetic modulator that binds the methyl CpG dinucleotide in target genes to regulate transcription. Previously, we and others reported a role of microglia in the pathophysiology of RTT. To understand the mechanism of microglia dysfunction in RTT, we identified a MeCP2 target gene, SLC38A1, which encodes a major glutamine transporter (SNAT1), and characterized its role in microglia. We found that MeCP2 acts as a microglia-specific transcriptional repressor of SNAT1. Because glutamine is mainly metabolized in the mitochondria, where it is used as an energy substrate and a precursor for glutamate production, we hypothesize that SNAT1 overexpression in MeCP2-deficient microglia would impair the glutamine homeostasis, resulting in mitochondrial dysfunction as well as microglial neurotoxicity because of glutamate overproduction. Supporting this hypothesis, we found that MeCP2 downregulation or SNAT1 overexpression in microglia resulted in (1) glutamine-dependent decrease in microglial viability, which was corroborated by reduced microglia counts in the brains of MECP2 knock-out mice; (2) proliferation of mitochondria and enhanced mitochondrial production of reactive oxygen species; (3) increased oxygen consumption but decreased ATP production (an energy-wasting state); and (4) overproduction of glutamate that caused NMDA receptor-dependent neurotoxicity. The abnormalities could be rectified by mitochondria-targeted expression of catalase and a mitochondria-targeted peptide antioxidant, Szeto-Schiller 31. Our results reveal a novel mechanism via which MeCP2 regulates bioenergetic pathways in microglia and suggest a therapeutic potential of mitochondria-targeted antioxidants for RTT.
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10. Jones B. {{Disease genomics: Autism sibling differences}}. {Nat Rev Genet};2015 (Feb 10)
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11. Lee BK, McGrath JJ. {{Advancing parental age and autism: multifactorial pathways}}. {Trends Mol Med};2014 (Dec 22)
Converging evidence from epidemiological, genetic, and animal studies supports the hypothesis that advancing parental age, both of the father and mother, increases the risk of autism spectrum disorders (ASD) in offspring. Paternal age has received considerable attention, with whole-genome sequencing studies linking older fathers to higher rates of de novo mutations and increased risk of ASD. The current evidence suggests that the increased risk of ASD in the offspring of older mothers may be related to mechanisms different from those operating in older fathers. Causal pathways probably involve the interaction of multiple risk factors. Although the etiology of ASD is still poorly understood, studies of parental age provide clues into the genetic and environmental mechanisms that mediate the risk of ASD.
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12. Ma YH, Li YW, Ma L, Cao CH, Liu XD. {{Anesthesia for stem cell transplantation in autistic children: A prospective, randomized, double-blind comparison of propofol and etomidate following sevoflurane inhalation}}. {Exp Ther Med};2015 (Mar);9(3):1035-1039.
The objective of the present study was to comparatively investigate the feasibility and safety of etomidate and propofol use following sevoflurane inhalation in autistic children during the intrathecal transplantation of stem cells. The patients selected were 60 autistic children with American Society of Anesthesiologists physical status I, who were aged between two and 12 years and scheduled for stem cell transplantation. The children received an inhalation induction of 8% sevoflurane, followed by intravenous injection of etomidate (0.2 mg/kg) in group E and propofol (2 mg/kg) in group P (n=30/group). Supplemental doses of 0.1 mg/kg etomidate or 1 mg/kg propofol were used until a deep sedation was obtained. The heart rate (HR), mean arterial pressure, oxygen saturation, respiratory rate, Ramsay sedation score (RSS) and recovery time were monitored continuously. Following anesthesia, blood pressure and HR measurements were significantly decreased in group P compared with the baseline (P<0.01) and group E values at the same time-points (P<0.05). The occurrence of adverse effects, such as respiratory depression, bradycardia, hypotension and pain on injection, was significantly higher in group P than that in group E, whereas the incidence of myoclonus in group E was significantly higher than that in group P (P<0.01). No significant differences in anesthesia induction, surgery duration, recovery time, RSS and physician satisfaction were observed between the two groups. In conclusion, sevoflurane-etomidate combinations resulted in more stable hemodynamic responses and relatively fewer adverse effects compared with propofol injection following sevoflurane inhalation and may therefore be more suitable for the induction of short-term anesthesia in autistic children during stem cell transplantation.
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13. Perry A, Levy-Gigi E, Richter-Levin G, Shamay-Tsoory SG. {{Interpersonal distance and social anxiety in autistic spectrum disorders: A behavioral and ERP study}}. {Soc Neurosci};2015 (Feb 10):1-12.
An inherent feature of social interactions is the use of social space or interpersonal distance-the space between one individual and another. Because social deficits are core symptoms of Autistic Spectrum Disorder (ASD), we hypothesized that individuals on this spectrum will exhibit abnormal interpersonal distance preferences. The literature on interpersonal distance in ASD is not conclusive. While some studies show preferences for closer distances among this group, others show preferences for farther distances than controls. A common symptom of ASD that may explain the variance in responses to interpersonal distance in this population is social anxiety (SA), which has been shown to correlate with interpersonal distance preferences. In the current study, we investigated interpersonal distance preferences in a group of individuals with ASD using both behavioral and ERP measures. We found greater variance in interpersonal distance preferences in the ASD group than in the control group. Furthermore, we showed that this variance can be explained by differences in SA level and can be predicted by the N1 amplitude, an early ERP component related to attention and discrimination processes. These results hint at the early sensory and attentional processes that may be affecting higher social behaviors, both in subclinical and in clinical populations.
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14. Purkayastha P, Malapati A, Yogeeswari P, Sriram D. {{A Review on GABA/Glutamate Pathway for Therapeutic Intervention of ASD and ADHD}}. {Curr Med Chem};2015 (Feb 9)
Balance between excitatory glutamate and inhibitory GABA neurotransmitter is essential and critical for proper development and functioning of brain. GABAergic (gamma aminobutyric acid) and glutamatergic interneurons maintain excitability, integrity and synaptic plasticity. Several evidences implicated relative loss of inhibitory GABA with corresponding glutamate mediated hyper-excitation in development of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). ASD is the common neurological disorder with an estimated relative occurrence of 0.5-1% of universal population. Several studies demonstrated the imbalance of excitatory/inhibitory neurotransmitters resulting from neurodevelopmental impairments in glutamatergic and GABAergic system, which might resemblesa common pathological mechanism for the developmental disorders. This review focuses on the necessity for developing GABA enhancing and glutamate suppressing drug candidates and illustrates the role of GABAergic and glutamatergic system in cognition and memory impairment involved in neurodevelopmental disorders with emphasis on ASD and ADHD. The review also highlights the newly emerging drugs for neurodevelopmental disorders.
15. Roberts AL, Lyall K, Rich-Edwards JW, Ascherio A, Weisskopf MG. {{Maternal exposure to intimate partner abuse before birth is associated with autism spectrum disorder in offspring}}. {Autism};2015 (Feb 6)
We sought to determine whether maternal (a) physical harm from intimate partner abuse during pregnancy or (b) sexual, emotional, or physical abuse before birth increased risk of autism spectrum disorder. We calculated risk ratios for autism spectrum disorder associated with abuse in a population-based cohort of women and their children (54,512 controls, 451 cases). Physical harm from abuse during pregnancy was not associated with autism spectrum disorder. However, autism spectrum disorder risk was increased in children of women who reported fear of partner or sexual, emotional, or physical abuse in the 2 years before the birth year (abuse in the year before the birth year: risk ratio = 1.58, 95% confidence interval = 1.04, 2.40; abuse in both of the 2 years before the birth year: risk ratio = 2.16, 95% confidence interval = 1.33, 3.50). Within-family results were similar, although did not reach statistical significance. Association of intimate partner abuse before the child’s birth year with autism spectrum disorder in the child was not accounted for by gestation length, birth weight, maternal smoking or alcohol consumption during pregnancy, gestational diabetes, preeclampsia, or history of induced abortion.
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16. Smith AD. {{Spatial navigation in autism spectrum disorders: a critical review}}. {Front Psychol};2015;6:31.
On the basis of relative strengths that have been attributed to the autistic cognitive profile, it has been suggested by a number of theorists that people with autism spectrum disorders (ASD) excel at spatial navigational tasks. However, many of these claims have been made in the absence of a close inspection of extant data in the scientific literature, let alone anecdotal reports of daily navigational experiences. The present review gathers together published studies that have attempted to explicitly address functional components of navigation in ASD populations, including assays of wayfinding, large-scale search, and path integration. This inspection reveals a pattern of apparent strengths and weaknesses in navigational abilities, thus illustrating the necessity for a more measured and comprehensive approach to the understanding of spatial behavior in ASD.
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17. Stewart ME, Allison C, Baron-Cohen S, Watson R. {{Investigating the Structure of the Autism-Spectrum Quotient Using Mokken Scaling}}. {Psychol Assess};2015 (Feb 9)
Traits similar to those shown in autism spectrum condition (ASC) are apparent in relatives of individuals with ASC, and in the general population without necessarily meeting diagnostic criteria for an ASC. We assess whether the Autism-Spectrum Quotient (AQ), a self-report measure, has hierarchical properties using Mokken scaling. Hierarchical scales allow the presence of a latent trait to be identified by discovering whether and how many specific items form an ordered array along it. Data were collected from 2 groups: (1) people with ASC (n = 449: 240 males, 209 females, Mage 35.4 years, SD = 12.8) and (2) university students (n = 943: 465 males, 475 females, Mage = 23.0 years, SD = 8.4). A single Mokken scale was obtained in the data from university students and 3 scales were obtained in the data from people with ASC. The scales all showed moderate Mokken scaling properties with the single scale obtained from university students showing weak invariant item ordering and 2 of the scales from people with ASC showing weak invariant item ordering. The AQ formed reliable Mokken scales. There was a large overlap between the scale from the university student sample and the sample with ASC, with the first scale, relating to social interaction, being almost identical. The present study confirms the utility of the AQ as a single instrument that can dimensionalize autistic traits in both university student and clinical samples of ASC, and confirms that items of the AQ are consistently ordered relative to one another. (PsycINFO Database Record (c) 2015 APA, all rights reserved).
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18. Torgerson CM, Quinn C, Dinov I, Liu Z, Petrosyan P, Pelphrey K, Haselgrove C, Kennedy DN, Toga AW, Van Horn JD. {{Interacting with the National Database for Autism Research (NDAR) via the LONI Pipeline workflow environment}}. {Brain Imaging Behav};2015 (Feb 10)
Under the umbrella of the National Database for Clinical Trials (NDCT) related to mental illnesses, the National Database for Autism Research (NDAR) seeks to gather, curate, and make openly available neuroimaging data from NIH-funded studies of autism spectrum disorder (ASD). NDAR has recently made its database accessible through the LONI Pipeline workflow design and execution environment to enable large-scale analyses of cortical architecture and function via local, cluster, or « cloud »-based computing resources. This presents a unique opportunity to overcome many of the customary limitations to fostering biomedical neuroimaging as a science of discovery. Providing open access to primary neuroimaging data, workflow methods, and high-performance computing will increase uniformity in data collection protocols, encourage greater reliability of published data, results replication, and broaden the range of researchers now able to perform larger studies than ever before. To illustrate the use of NDAR and LONI Pipeline for performing several commonly performed neuroimaging processing steps and analyses, this paper presents example workflows useful for ASD neuroimaging researchers seeking to begin using this valuable combination of online data and computational resources. We discuss the utility of such database and workflow processing interactivity as a motivation for the sharing of additional primary data in ASD research and elsewhere.
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19. Trajkovski V, Spiroski M. {{DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia}}. {Bratisl Lek Listy};2015;116(1):14-19.
In the present study, we report the first DNA analysis of HLA class I and class II alleles in Macedonian autistic subjects. We have analyzed the HLA-A, -C, -B, DRB1 genotypes of 35 autistic patients, and 98 healthy unrelated Macedonians (control group). HLA DNA typing of class I genes was performed using a Reverse Line Strip method (RLS), and the Sequencing Based Typing method (SBT) was used for typing of class II genes. In the autistic subjects for HLA-A locus 14 alleles have been identified with 2 being predominant *02 (25.7 %), and *24 (18.6 %). Among the 11 identified HLA-C alleles, 3 were predominant such as *12 (20.0 %), *07 (17.1 %), and *03 (12.9 %). Among the 18 identified HLA-B alleles, 2 were predominant: *51 (18.6 %), and *18 (11.4 %). For HLA-DRB1 locus, 10 alleles have been identified with 2 of them predominant such as: *11 (21.4 %), and *01 (14.3 %). The allele and haplotype frequencies in the patients group were compared to those of 98 control subjects. Our results showed significantly increased frequencies of HLA-C*03 (OR = 2.74*; chi2 = 4.68; p = 0.03), and HLA-DRB1*01 (OR = 3.10*; chi2 = 6.26; p = 0.012) alleles in autistic patients when compared to the controls. The most frequent haplotype frequencies in autistic sample were A*11-C*12-B*52-DRB1*15 (2.9 %), A*24-C*03-B*55-DRB1*16 (2.9 %), and A*24-C*03-B*55-DRB1*16 (2.9 %), but they were not statistically significant when compared to the control group. None of our patients carried allele or haplotype, which were protective in our population. Hardy-Weinberg equilibrium in autistic group showed that HLA-A (p < 0.03), HLA-C (p < 0.04), and HLA-DRB1 (p < 0.002) loci were in linkage disequilibria. In the control group, we found only for the HLA-DRB1 locus linkage disequilibrium (p < 0.002). Our results demonstrated the association of HLA-C*03 and HLA-DRB1*01 alleles with Macedonian autistic patients (Tab. 7, Ref. 37). KEYWORDS: HLA-DNA typing, autism, allele frequencies, haplotype frequencies, Republic of Macedonia.
20. Venkatraman A, Kumar N, Garg N. {{Greater freedom of speech on Web 2.0 correlates with dominance of views linking vaccines to autism}}. {Vaccine};2015 (Feb 6)
INTRODUCTION: It is suspected that Web 2.0 web sites, with a lot of user-generated content, often support viewpoints that link autism to vaccines. METHODS: We assessed the prevalence of the views supporting a link between vaccines and autism online by comparing YouTube, Google and Wikipedia with PubMed. Freedom of speech is highest on YouTube and progressively decreases for the others. RESULTS: Support for a link between vaccines and autism is most prominent on YouTube, followed by Google search results. It is far lower on Wikipedia and PubMed. Anti-vaccine activists use scientific arguments, certified physicians and official-sounding titles to gain credibility, while also leaning on celebrity endorsement and personalized stories. CONCLUSIONS: Online communities with greater freedom of speech lead to a dominance of anti-vaccine voices. Moderation of content by editors can offer balance between free expression and factual accuracy. Health communicators and medical institutions need to step up their activity on the Internet.
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21. Weismuller B, Thienel R, Youlden AM, Fulham R, Koch M, Schall U. {{Psychophysiological Correlates of Developmental Changes in Healthy and Autistic Boys}}. {J Autism Dev Disord};2015 (Feb 7)
This study investigated neurodevelopmental changes in sound processing by recording mismatch negativity (MMN) in response to various degrees of sound complexity in 18 mildly to moderately autistic versus 15 healthy boys aged between 6 and 15 years. Autistic boys presented with lower IQ and poor performance on a range of executive and social function measures when compared to their healthy counterparts. We found that MMN in response to duration deviants was less lateralized in the clinical group whereas larger amplitudes correlated with advanced age, thus capturing neurodevelopmental changes. Larger MMN in response to speech-like sound deviants was associated with better verbal fluency and executive function performance, respectively, but did not reliably discriminate the two groups.
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22. Wise J. {{Frequent eye movements in babies linked to autism, researchers say}}. {BMJ};2015;350:h702.
23. Zhao HX, Yin SS, Fan JG. {{High plasma neopterin levels in Chinese children with autism spectrum disorders}}. {Int J Dev Neurosci};2015 (Feb 5)
BACKGROUND: Neopterin, a pteridine mainly synthesized by activated macrophages, is a marker of inflammation, immune system activation and an active participant in Autism spectrum disorders (ASD). The aim of this study was to assess the clinical significance of plasma neopterin levels in ASD. METHODS: Eighty patients diagnosed with ASD and 80 sex and age matched typically developing children were assessed for plasma levels of neopterin at admission. Plasma neopterin levels were measured using a human ELISA kit and severity of ASD were evaluated with the Childhood Autism Rating Scale (CARS) score. RESULTS: We found that the mean plasma neopterin level was significantly (P<0.0001) higher in children with ASD as compared to controls. Plasma neopterin increased with increasing severity of ASD as defined by the CARS score. Based on the ROC curve, the optimal cutoff value of plasma neopterin level as an indicator for auxiliary diagnosis of ASD was projected to be 8.5nmol/L, which yielded a sensitivity of 84.2% and a specificity of 80.1%, with the area under the curve at 0.876 (95%CI, 0.825-0.928). Elevated neopterin (>/=8.5nmol/l) was an independent diagnosis indicator of ASD with an adjusted OR of 12.11 (95% CI: 5.48-28.11; P<0.0001). CONCLUSIONS: These results indicated that autistic children had higher plasma levels of neopterin, and elevated plasma neopterin levels may be associated with severity of ASD among Chinese children.
