1. Cook J, Swapp D, Pan X, Bianchi-Berthouze N, Blakemore SJ. {{Atypical interference effect of action observation in autism spectrum conditions}}. {Psychological medicine}. 2013 Jun 13:1-10.
BACKGROUND: Observing incongruent actions interferes with ongoing action execution. This ‘interference effect’ is larger for observed biological actions than for non-biological actions. The current study used virtual reality to investigate the biological specificity of interference effects of action observation in autism spectrum conditions (ASC). Method High-functioning adults with ASC and age- and IQ-matched healthy controls performed horizontal sinusoidal arm movements whilst observing arm movements conducted by a virtual reality agent with either human or robot form, which moved with either biological motion or at a constant velocity. In another condition, participants made the same arm movements while observing a real human. Observed arm movements were either congruent or incongruent with executed arm movements. An interference effect was calculated as the average variance in the incongruent action dimension during observation of incongruent compared with congruent movements. RESULTS: Control participants exhibited an interference effect when observing real human and virtual human agent incongruent movements but not when observing virtual robot agent movements. Individuals with ASC differed from controls in that they showed no interference effects for real human, virtual human or virtual robot movements. CONCLUSIONS: The current study demonstrates atypical interference effects in ASC.
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2. Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G. {{Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits}}. {European journal of human genetics : EJHG}. 2013 Jun 12.
Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry approximately 3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of approximately 1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region.European Journal of Human Genetics advance online publication, 12 June 2013; doi:10.1038/ejhg.2013.101.
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3. Holt S, Yuill N. {{Facilitating Other-Awareness in Low-Functioning Children with Autism and Typically-Developing Preschoolers Using Dual-Control Technology}}. {J Autism Dev Disord}. 2013 Jun 12.
Children with autism are said to lack other-awareness, which restricts their opportunities for peer collaboration. We assessed other-awareness in non-verbal children with autism and typically-developing preschoolers collaborating on a shared computerised picture-sorting task. The studies compared a novel interface, designed to support other-awareness, with a standard interface, with adult and peer partners. The autism group showed no active other-awareness using the standard interface, but revealed clear active other-awareness using the supportive interface. Both groups displayed more other-awareness with the technology than without and also when collaborating with a peer than with an adult partner. We argue that children with autism possess latent abilities to coordinate social interaction that only become evident with appropriate support.
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4. Kern JK, Garver CR, Mehta JA, Hannan PA, Bakken LE, Vidaud AM, Abraham J, Daoud Y. {{Prospective, Blinded Exploratory Evaluation of the PlayWisely Program in Children with Autism Spectrum Disorder}}. {The Yale journal of biology and medicine}. 2013 Jun;86(2):157-67.
The purpose of the study was to explore a low-cost intervention that targets an increasingly common developmental disorder. The study was a blinded, exploratory evaluation of the PlayWisely program on autism symptoms and essential learning foundation skills (attention, recognition, and memory skills) in children with a diagnosis of autism, autism spectrum disorder (ASD), pervasive developmental disorder – not otherwise specified (PDD-NOS), and Asperger syndrome (AS). Eighteen children, 1 to 10 years of age, were evaluated using the Childhood Autism Rating Scale, Second Edition (CARS2); the PlayWisely Interactive Test of Attention, Recognition, and Memory Skills; Autism Treatment Evaluation Checklist (ATEC), and the Modified Checklist for Autism in Toddlers (M-CHAT). There were significant treatment effects for the PlayWisely measure on the Yellow Sets that examine recognition; Purple Sets that examine brain region agility and early memory skills; Blue Sets that examine phonemic awareness and recognition; and for the Total Sets, with a similar trend toward improvement in the Green Sets that examine perception and Red Sets that examine attention. No other measures reached statistical significance. The results suggest that PlayWisely can improve recognition, brain region agility, phonemic awareness, letter recognition, and early memory skills in ASD. It was observed by the parents, coaches, and study investigators that the children who were less than 3 years of age showed improvements in autism symptoms; however, the group was too small to reach statistical significance. Future studies are needed to see if this intervention can mitigate autism symptoms in very young children with ASD.
5. Kumar SL. {{Examining the characteristics of visuospatial information processing in individuals with high-functioning autism}}. {The Yale journal of biology and medicine}. 2013 Jun;86(2):147-56.
Information processing in individuals with autism is marked by a unique interplay of strengths and weaknesses that in concert distinguishes social cognition in autism from individuals with typical-functioning brains. In autism, difficulties with higher cognitive processing and enhancement of low-level visuospatial processing, such as in visual search tasks, may lead to diminished central coherence, which has the potential to hinder how an individual functions in social interactions where integration of components such as intention, emotion, and context paints the global picture necessary for social processing. A more thorough understanding of the cognitive and neural processes in autism is important for the advancement of intervention programs. The intention of this review is to discuss the implications of neuroimaging and behavioral studies that have analyzed the higher cognitive functions in individuals with high-functioning autism, with a particular emphasis on studies that have investigated visuospatial processing.
6. Monaghan KG, Lyon E, Spector EB. {{ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2013 Jun 13.
Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. This document provides updated information regarding FMR1 gene mutations, including prevalence, genotype-phenotype correlation, and mutation nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction amplification of the FMR1 gene, including triplet repeat-primed and methylation-specific polymerase chain reaction. In addition to report elements, examples of laboratory reports for various genotypes are also included.Genet Med advance online publication 13 June 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.61.
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7. Poelmans G, Franke B, Pauls DL, Glennon JC, Buitelaar JK. {{AKAPs integrate genetic findings for autism spectrum disorders}}. {Translational psychiatry}. 2013;3:e270.
Autism spectrum disorders (ASDs) are highly heritable, and six genome-wide association studies (GWASs) of ASDs have been published to date. In this study, we have integrated the findings from these GWASs with other genetic data to identify enriched genetic networks that are associated with ASDs. We conducted bioinformatics and systematic literature analyses of 200 top-ranked ASD candidate genes from five published GWASs. The sixth GWAS was used for replication and validation of our findings. Further corroborating evidence was obtained through rare genetic variant studies, that is, exome sequencing and copy number variation (CNV) studies, and/or other genetic evidence, including candidate gene association, microRNA and gene expression, gene function and genetic animal studies. We found three signaling networks regulating steroidogenesis, neurite outgrowth and (glutamatergic) synaptic function to be enriched in the data. Most genes from the five GWASs were also implicated-independent of gene size-in ASDs by at least one other line of genomic evidence. Importantly, A-kinase anchor proteins (AKAPs) functionally integrate signaling cascades within and between these networks. The three identified protein networks provide an important contribution to increasing our understanding of the molecular basis of ASDs. In addition, our results point towards the AKAPs as promising targets for developing novel ASD treatments.
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8. Stein LI, Polido JC, Cermak SA. {{Oral Care and Sensory Over-responsivity in Children with Autism Spectrum Disorders}}. {Pediatric dentistry}. 2013;35(3):230-5.
PURPOSE: The purpose of this study was to investigate the relationship between sensory sensitivities and oral care difficulties in children with autism spectrum disorders (ASDs) or typical development (TD). METHODS: Participants included 396 parents of 2- to 18-year-old children with ASDs or TD who completed a questionnaire about oral care in the home and dental office. Descriptive and bivariate analyses were conducted to examine the association between sensory sensitivities and oral care variables. RESULTS: Both hypotheses were supported: (1) ASDs children vs. TD children were reported to have a significantly greater prevalence of sensory over-responsivity across all sensory domains; and (2) ASDs children characterized as « sensory over-responders » exhibited a significantly greater prevalence of oral care difficulty in the home and dental office vs. ASDs children who responded more typically to sensory stimuli (« sensory not over-responders »). CONCLUSIONS: This study provides further evidence for the impact of sensory processing problems on oral care, both in the home and dental office. Methods to best serve children with autism spectrum disorders may include strategies that alter the sensory characteristics of the dental environment as well as interventions to reduce children’s sensory sensitivities.
9. Stobbe G, Liu Y, Wu R, Hudgings LH, Thompson O, Hisama FM. {{Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2013 Jun 13.
Purpose:Array comparative genomic hybridization is available for the evaluation of autism spectrum disorders. The diagnostic yield of testing is 5-18% in children with developmental disabilities, including autism spectrum disorders and multiple congenital anomalies. The yield of array comparative genomic hybridization in the adult autism spectrum disorder population is unknown.Methods:We performed a retrospective chart review for 40 consecutive patients referred for genetic evaluation of autism from July 2009 through April 2012. Four pediatric patients were excluded. Medical history and prior testing were reviewed. Clinical genetic evaluation and testing were offered to all patients.Results:The study population comprised 36 patients (age range 18-45, mean 25.3 years). An autism spectrum disorder diagnosis was confirmed in 34 of 36 patients by medical record review. One patient had had an abnormal karyotype; none had prior array comparative genomic hybridization testing. Of the 23 patients with autism who underwent array comparative genomic hybridization, 2 of 23 (8.7%) had pathogenic or presumed pathogenic abnormalities and 2 of 23 (8.7%) had likely pathogenic copy-number variants. An additional 5 of 23 (22%) of autism patients had variants of uncertain significance without subclassification.Conclusion:Including one patient newly diagnosed with fragile X syndrome, our data showed abnormal or likely pathogenic findings in 5 of 24 (21%) adult autism patients. Genetic reevaluation in adult autism patients is warranted.Genet Med advance online publication 13 June 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.78.
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10. Tunc-Ozcan E, Ullmann TM, Shukla PK, Redei EE. {{Low-Dose Thyroxine Attenuates Autism-Associated Adverse Effects of Fetal Alcohol in Male Offspring’s Social Behavior and Hippocampal Gene Expression}}. {Alcoholism, clinical and experimental research}. 2013 Jun 13.
BACKGROUND: Fetal alcohol spectrum disorder (FASD) is characterized by neurodevelopmental anomalies manifesting in cognitive and behavioral deficits in the offspring with diverse severities. Social behavior is affected in FASD, and these deficits overlap with those of autism spectrum disorder (ASD). Identifying some of the molecular characteristics related to ASD in an animal model of FASD could ultimately provide details on the underlying molecular mechanisms of both disorders that could lead to novel treatments. METHODS: Pregnant Sprague-Dawley rats received the following diets: control (C; ad libitum standard laboratory chow), nutritional control pair-fed (PF), ethanol (EtOH), or an EtOH diet supplemented with 0.3, 1.5, or 7.5 mg thyroxine (T4)/l in the diet. Social behavior and memory were tested in the adult offspring. Plasma total T4, free T3 (fT3), and thyroid-stimulating hormone (TSH) levels were measured. Hippocampal expression of Gabrb3, Ube3a, Nr2b, Rasgrf1, and Dio3 were measured by RT-qPCR and protein levels of Mecp2 and Slc25a12 by Western blotting. RESULTS: Adult male offspring of EtOH dams showed elevated fT3 and low TSH levels. Adult male, but not female, offspring of EtOH dams exhibited social behavior and memory deficits. Expression of autism candidates, Gabrb3, Ube3a, Mecp2, and Slc25a12, was significantly increased in the hippocampus of male offspring of EtOH dams. Hippocampal Nr2b and Dio3 were also increased, while Rasgrf1 was decreased in the same population. Peripheral thyroid function, social behavioral deficits, and altered expression of the above genes were normalized by simultaneous administration of 0.3 mg/l T4 in the EtOH diet. CONCLUSIONS: Our data suggest that social interaction deficits of FASD share molecular mechanism with ASD by showing altered hippocampal expression of several ASD candidate genes. Social interaction deficits as well as the gene expression changes in the offspring of EtOH-consuming dams can be reversed by low dose of thyroid hormone supplementation to the mothers.
