1. Bambini-Junior V, Nunes GD, Schneider T, Gottfried C. {{Comment on « Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring »}}. {Science};2014 (Oct 10);346(6206):176.
Tyzio et al. (Reports, 7 February 2014, p. 675) reported that bumetanide restored the impaired oxytocin-mediated gamma-aminobutyric acid (GABA) excitatory-inhibitory shift during delivery in animal models of autism, ameliorating some autistic-like characteristics in the offspring. However, standard practices in the study of these models, such as the use of sex-dimorphic or males-only analyses and implementation of tests measuring social behavior, are lacking to definitely associate their findings to autism.
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2. Coleman WP, 3rd. {{John Marion Yarborough, Jr., MD, past President ASDS}}. {Dermatol Surg};2014 (Sep);40(9):933-936.
3. Eftekhari S, Shahrokhi A, Tsintsadze V, Nardou R, Brouchoud C, Conesa M, Burnashev N, Ferrari DC, Ben-Ari Y. {{Response to Comment on « Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring »}}. {Science};2014 (Oct 10);346(6206):176.
Bambini-Junior et al. questioned whether our treatment in two rodent models of autism has a long-lasting effect into adulthood. In response, we show that bumetanide treatment around delivery attenuates autistic behavioral features in adult offspring. Therefore, the polarity of gamma-aminobutyric acid (GABA) actions during delivery exerts long-lasting priming actions after birth.
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4. Hosokawa M, Nakadoi Y, Watanabe Y, Sumitani S, Ohmori T. {{Association of autism tendency and hemodynamic changes in the prefrontal cortex during facial expression stimuli measured by multi-channel near-infrared spectroscopy}}. {Psychiatry Clin Neurosci};2014 (Oct 9)
AIM: The aim of this study is to examine the hemodynamic changes induced by cognitive process of facial expression by using multichannel near-infrared spectroscopy (NIRS) in healthy subjects with varying degree of autism tendency. METHODS: Subjects were 38 volunteers, 20 males and 18 females. Autism tendency was measured by the Autism Spectrum Quotient (AQ). The hemodynamic changes in the prefrontal cortex (PFC) were measured by 24-channel NIRS system, while they were asked to judge their own emotional response to standardized pictures of 8 kinds of facial expressions on a computer screen. RESULTS: There were significant negative correlations between AQ scores and accuracy of fearful expression recognition as well as increases in the concentration of oxygenated hemoglobin in response to four kinds of emotional faces (fear, contempt, sadness and disgust). CONCLUSION: Our findings suggest that the more tendency to autism subjects have, the more difficulty they have in recognizing fearful expression and the less hemodynamic change in the PFC they show in response to negative facial expressions.
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5. Kumar M, Duda JT, Hwang WT, Kenworthy C, Ittyerah R, Pickup S, Brodkin ES, Gee JC, Abel T, Poptani H. {{High Resolution Magnetic Resonance Imaging for Characterization of the Neuroligin-3 Knock-in Mouse Model Associated with Autism Spectrum Disorder}}. {PLoS One};2014;9(10):e109872.
Autism spectrum disorders (ASD) comprise an etiologically heterogeneous set of neurodevelopmental disorders. Neuroligin-3 (NL-3) is a cell adhesion protein that mediates synapse development and has been implicated in ASD. We performed ex-vivo high resolution magnetic resonance imaging (MRI), including diffusion tensor imaging (DTI) and behavioral (social approach and zero maze) tests at 3 different time points (30, 50 and 70 days-of-age) on NL-3 and wild-type littermates to assess developmental brain abnormalities in NL-3 mice. MRI data were segmented in 39 different gray and white matter regions. Volumetric measurements, along with DTI indices from these segmented regions were also performed. After controlling for age and gender, the NL-3 knock-in animals demonstrated significantly reduced sociability and lower anxiety-related behavior in comparison to their wild type littermates. Significantly reduced volume of several white and gray matter regions in the NL-3 knock-in mice were also observed after considering age, gender and time point as covariates. These findings suggest that structural changes in the brain of NL-3 mice are induced by the mutation in the NL-3 gene. No significant differences in DTI indices were observed, which suggests that the NL-3 mutation may not have a profound effect on water diffusion as detected by DTI. The volumetric and DTI studies aid in understanding the biology of disrupting function on an ASD risk model and may assist in the development of imaging biomarkers for ASD.
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6. Lin LY. {{Quality of life of taiwanese adults with autism spectrum disorder}}. {PLoS One};2014;9(10):e109567.
BACKGROUND: To date, few recent studies have investigated the quality of life of adults with autism spectrum disorder (ASD). It remains unclear how individuals with ASD view their own quality of life. OBJECTIVE: The primary purpose of this study was to compare the quality of life scores among adults with ASD with those of a non-ASD control group and the Taiwanese health population reference group. METHODS: The study comprised 41 adults with ASD (M age = 26.9, SD = 5.0), and without intellectual disabilities (IQ>70). A comparison sample of 41 adults without ASD was selected by matching the age and sex of the participants with ASD. A validated measure, the Taiwanese version of the World Health Organization Quality of Life-BREF (WHOQOL-BREF), was used. Independent t-tests were performed to examine the differences in the quality of life between groups. RESULTS: The highest quality of life was scored in the environment domain, followed by the physical health and psychological health domains. The lowest quality of life score was found in the social relationship domain. Adults with ASD scored significantly lower in all domains than did the non-ASD control group. Additionally, adults with ASD scored significantly lower in the physical health, psychological health, and social relationship domains than did the Taiwanese health population reference group. Comorbid psychiatric disorders, self-rated health status, and perceived happiness were correlated with quality of life among adults with ASD. CONCLUSION: The preliminary findings suggest that adults with ASD need more supportive social contexts and interventions to promote their quality of life. Based on our findings, social relationship must be considered in designing and applying treatment programs for adults with ASD.
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7. Lu L, Guo H, Peng Y, Xun G, Liu Y, Xiong Z, Tian D, Li W, Xu X, Zhao J, Hu Z, Xia K. {{Common and rare variants of the THBS1 gene associated with the risk for autism}}. {Psychiatr Genet};2014 (Oct 10)
OBJECTIVES: Autism is a severe neurodevelopmental disorder. Many susceptible or causative genes have been identified, and most of them are related to synaptogenesis. The THBS1 gene encodes thrombospondin 1, which plays a critical role in synaptogenesis of the central nervous system in the developing brain. However, no study has been carried out revealing that THBS1 is an autism risk gene. METHODS: We analyzed the whole coding region and the 5′-untranslated region of the THBS1 gene in 313 autistic patients by Sanger sequencing, which was also used to analyze the identified variants in 350 normal controls. Association analysis was carried out using PLINK or R. Haplotype analysis was carried out using Haploview. Functional prediction and conservation analysis of missense variants were carried out using ANNOVAR. RESULTS: Twelve variants, including five common variants and seven rare variants, were identified in the THBS1 coding region and the 5′-untranslated region. Among them, one common variant (c.1567A>G:p.T523A) was significantly associated with autism (P<0.05). Two rare variants (c.2429G>A:p.R810Q, c.3496G>C:p.E1166Q) were absent in the 350 controls and were not reported in the single nucleotide polymorphism database (dbSNP). Combined association analysis of the rare variants (minor allele frequency<0.01) in patients and Asian samples in the 1000 genome project revealed a significant association between these rare variants and autism (P=0.039). CONCLUSION: Our data revealed that both common and rare variants of the THBS1 gene are associated with risk for autism, suggesting that THBS1 is a novel susceptible gene for autism.
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8. Pegoraro LF, Setz EZ, Dalgalarrondo P. {{Ethological approach to autism spectrum disorders}}. {Evol Psychol};2014;12(1):223-244.
The purpose of the study was to develop a new ethogram for the assessment of children and adolescents with autism spectrum disorders (ASD) and intellectual developmental disorder (IDD) and to test whether this instrument accurately distinguishes ASD participants (n = 61) from IDD participants (n = 61). An ethogram with 88 behavior elements was generated, including body postures, verbalizations, facial expressions, motor stereotypies, head postures, gaze behavior, gestures, and interpersonal distance. Significant differences were detected between both groups in classic ASD behaviors; in behaviors that are deficient in ASD according to established theoretical models, such as symbolic play, gaze direction, gaze following, and use of mental state language; in atypical behaviors that have also been described previously in ethological studies with ASD; and in the nonspecific behaviors of ASD, such as walk, look own body, explore, and cry. The predictive success of a diagnosis of ASD in the logistic regression model with the ethogram’s factors was 98.4%. The results suggest that this ethogram is a powerful and useful tool for both the detailed study of the social behaviors of autistic children and adolescents, and for discriminating ASD and IDD.
9. Pellicano E, Dinsmore A, Charman T. {{Views on Researcher-Community Engagement in Autism Research in the United Kingdom: A Mixed-Methods Study}}. {PLoS One};2014;9(10):e109946.
There has been a substantial increase in research activity on autism during the past decade. Research into effective ways of responding to the immediate needs of autistic people is, however, less advanced, as are efforts at translating basic science research into service provision. Involving community members in research is one potential way of reducing this gap. This study therefore investigated the views of community involvement in autism research both from the perspectives of autism researchers and of community members, including autistic adults, family members and practitioners. Results from a large-scale questionnaire study (n = 1,516) showed that researchers perceive themselves to be engaged with the autism community but that community members, most notably autistic people and their families, did not share this view. Focus groups/interviews with 72 participants further identified the potential benefits and remaining challenges to involvement in research, especially regarding the distinct perspectives of different stakeholders. Researchers were skeptical about the possibilities of dramatically increasing community engagement, while community members themselves spoke about the challenges to fully understanding and influencing the research process. We suggest that the lack of a shared approach to community engagement in UK autism research represents a key roadblock to translational endeavors.
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10. Thomas N, Singh A, Sankaran S, Russell PS, Tsheringla S, Viswanathan SA, Nair MK. {{ICD-10 and Alternative Diagnostic Criteria for Childhood Autism Among Children with Intellectual Disability}}. {Indian J Pediatr};2014 (Oct 10)
OBJECTIVES: The diagnosis of Childhood Autism (CA) among children with Intellectual Disability (ID) based on clinical criteria validated for populations with average intelligence compromises it’s diagnostic accuracy in this special population. This study documents the diagnostic accuracy of ICD-10 and alternative criteria for CA in ID population. METHODS: Consensus clinical diagnosis of autism made by a multi-disciplinary team as the reference data were extracted from the case notes and psychological tests details by two trainee psychologists, and ICD-10 based clinical diagnosis, demographics, ID, CA related data documented independently of the psychiatrist. The appropriate statistical analyses were completed. RESULTS: Repetitive behaviors formed the most common symptom cluster. The high internal consistency (kappa = 0.75) among the three groups of ICD-10 symptoms indicate their usefulness in the diagnosis of CA among children with ID, but significantly more children with ID failed to meet the ICD-10 criteria for CA. The fourth alternative criteria had the highest concordance with the reference standard (100 %) and the first alternative criteria had the highest agreement with the reference standard (kappa = 0.88) in identifying CA among ID. The diagnostic accuracy of all the alternative criteria was significantly better than that of ICD-10 with the first alternative criteria having the best diagnostic accuracy (Sn = 98 %; Sp = 100 %; PPV = 1; NPV =0.83) closest to the reference standard. CONCLUSIONS: The symptom clusters in ICD-10 for CA should be retained, however reorganising the diagnostic criteria is required for diagnosing CA accurately among children with ID. The first alternative criteria can significantly improve the case identifying ability and diagnostic accuracy altering there by the epidemiological data on Childhood Autism among children with Intellectual Disability.
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11. Vedora J, Grandelski K. {{A comparison of methods for teaching receptive language to toddlers with autism}}. {J Appl Behav Anal};2014 (Oct 10)
The use of a simple-conditional discrimination training procedure, in which stimuli are initially taught in isolation with no other comparison stimuli, is common in early intensive behavioral intervention programs. Researchers have suggested that this procedure may encourage the development of faulty stimulus control during training. The current study replicated previous work that compared the simple-conditional and the conditional-only methods to teach receptive labeling of pictures to young children with autism spectrum disorder. Both methods were effective, but the conditional-only method required fewer sessions to mastery.
