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. Babinska K, Bucova M, Durmanova V, Lakatosova S, Janosikova D, Bakos J, Hlavata A, Ostatnikova D. {{Increased plasma levels of the high mobility group box 1 protein (HMGB1) are associated with a higher score of gastrointestinal dysfunction in individuals with autism}}. {Physiol Res};2015 (Feb 10);63 Suppl 4:S613-618.
Autism is a disorder of neural development characterized by impairments in communication, social interaction, restricted interests and repetitive behavior. The etiology of autism is poorly understood, the evidence indicates that inflammation may play a key role. In autism a high prevalence of gastrointestinal disturbances is reported, that are linked to a low-grade chronic inflammation of the intestinal mucosa. High mobility group box 1 protein (HMGB1) is an intranuclear protein that can be passively released from necrotic cells or actively secreted under inflammatory conditions as alarmin or late proinflammatory cytokine. The objective of this study was to measure plasma levels of HMGB1 in individuals with autism and to analyze their association with gastrointestinal symptoms. The study involved 31 subjects with low-functioning autistic disorder aged 2-22 years and 16 healthy controls. Plasma HMGB1 levels were significantly higher in individuals with autism than in controls (13.8+/-11.7 ng/ml vs. 7.90+/-4.0 ng/ml, p<0.02). In subjects with plasma HMGB1 levels higher than 11 ng/ml severe forms of GI disorders were more prevalent (83.3 %) than in subjects with lower levels (38.9 %, p<0.04). Results of the study support the involvement of the systemic low-grade inflammation in the pathomechanisms of autism and its possible association with GI symptoms.
5. Jones B. {{Disease genomics: Autism sibling differences}}. {Nat Rev Genet};2015 (Feb 10)
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6. 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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7. Tang L, Xiao B, Xu Y, Ji X, Jiang W, Liu X, Tao J. {{[Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi};2015 (Feb 10);32(1):11-15.
OBJECTIVE To analyze (CGG)n repeats sequence and AGG interspersion correlated with unstable expansion of FMR1 gene in a general Chinese population. METHODS AmplideX FMR1 PCR Kit was used to amplify 380 X chromosomes from randomly selected 176 males and 102 females, 11 permutation carriers and 10 full mutation patients have served as controls. Results of capillary electrophoresis were analyzed with GeneMapper software Version 4.0. SPSS 11.0 software was used for statistical analysis. RESULTS The ratio of heterozygous females was 64.70%. The number of alleles in general males and females was 15 and 14, the classes of AGG pattern was 26 and 27, respectively. The range of alleles was between 17 to 45 CGG repeats in males and 21 to 44 CGG repeats in females, and 1 male was identified as gray zone carrier. The most frequent allele was 29 CGG repeats, which was followed by 30 and 36 repeats, while 28 CGG repeats were absent. The most common AGG pattern was 9A9A9, 99.21% of the population was detected with different forms and numbers of AGG interruption, and 6A interruption pattern was found in 10.02% samples especially in individuals with more CGG repeats. However, 57.58% of control samples had no AGG interruption, and none of the controls had 6A interruption pattern. No significant difference was observed in allele frequent distribution of (CGG)n repeats and AGG interspersion patterns between the males and females (P > 0.05), and AGGs was significantly different between general population and controls (P < 0.05). CONCLUSION AGGs and AGG pattern may have important roles in maintaining (CGG)n stability in general population of China, 9A9A6A9 may be a special pattern for preventing (CGG)n unstable expansion in Asian populations.
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8. 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.
