1. Begeer S, Bernstein DM, van Wijhe J, Scheeren AM, Koot H. {{A Continuous False Belief Task Reveals Egocentric Biases in Children and Adolescents With Autism Spectrum Disorders}}. {Autism};2012 (Mar 7)
This study reports on a new false belief measure in a sample of 124 children and adolescents with or without high functioning autism (HFASD). In the classic paradigm, a participant predicts in which of two discrete locations a deceived protagonist will look for an object. In the current Sandbox task, the object is buried and reburied in a sandbox, thus creating a continuum between locations. Compared to typically developing individuals (n=62), those with HFASD (n=62) showed a larger egocentric bias on the Sandbox task. They failed to take the protagonist’s false belief into account, despite their adequate ability to infer advanced mental states. This indicates that sensitive measures can reveal subtle first order Theory of Mind impairments in HFASD individuals.
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2. Cascio CJ, Foss-Feig JH, Burnette CP, Heacock JL, Cosby AA. {{The rubber hand illusion in children with autism spectrum disorders: delayed influence of combined tactile and visual input on proprioception}}. {Autism};2012 (Mar 7)
In the rubber hand illusion, perceived hand ownership can be transferred to a rubber hand after synchronous visual and tactile stimulation. Perceived body ownership and self-other relation are foundational for development of self-awareness, imitation, and empathy, which are all affected in autism spectrum disorders (ASD). We examined the rubber hand illusion in children with and without ASD. Children with ASD were initially less susceptible to the illusion than the comparison group, yet showed the effects of the illusion after 6 minutes. Delayed susceptibility to the illusion may result from atypical multisensory temporal integration and/or an unusually strong reliance on proprioception. Children with ASD who displayed less empathy were significantly less likely to experience the illusion than those with more intact ability to express empathy. A better understanding of body representation in ASD may elucidate neural underpinnings of social deficits, thus informing future intervention approaches.
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3. Chaidez V, Hansen RL, Hertz-Picciotto I. {{Autism Spectrum Disorders in Hispanics and non-Hispanics}}. {Autism};2012 (Mar 7)
Objectives. To compare differences in autism between Hispanic and non-Hispanics. We also examined the relationship between multiple language exposure and language function and scores of children.Methods. The Childhood Autism Risks from Genetics and the Environment (CHARGE) study is an ongoing population-based case-control study with children sampled (n=1061) from three strata: those with autism (AU) or autism spectrum disorder (ASD); developmental delay (DD); or the general population (GP).Results. Non-Hispanic cases demonstrated higher cognitive composite scores for the Mullen Scales of Early Learning (MSEL). There were significant associations between multiple language exposure and MSEL subscales for receptive language and expressive language, in both cases (AU/ASD) and TD controls, but not DD controls. Results of multivariate regression analyses suggest several predictors to be associated with lower Mullen expressive language scores including: diagnosis of ASD/AU, speaking to the child in a second language 25-50% of the time and Hispanic ethnicity; while maternal college education was associated with higher scores.Conclusion. Overall, the CHARGE Hispanic group displayed more similarities than differences compared to non-Hispanics in terms of autistic phenotypes and maladaptive & adaptive scores for cases. The relationship between multiple language use and cognitive scores warrants a closer look.
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4. Chuthapisith J, Taycharpipranai P, Ruangdaraganon N, Warrington R, Skuse D. {{Translation and Validation of the Developmental, Dimensional and Diagnostic Interview (3Di) for Diagnosis Autism Spectrum Disorder in Thai Children}}. {Autism};2012 (Mar 7)
This study aimed to examine the effectiveness of a translated version of the short version of the Developmental, Dimensional and Diagnostic Interview (3Di) in discriminating children with autism spectrum disorders (ASDs) from typically developing children. Two groups, comprising 63 children with clinically ascertained ASDs and 67 typically developing children, were interviewed with the short 3Di translated version. Mean 3Di scale scores in each domain of autistic symptoms (social reciprocity, communication, and repetitive/stereotyped behaviors) were significantly higher in the ASD group than in the typically developing group. The optimal receiver operating characteristics curve cut-off scores were found to be 10, 8, and 3 for social reciprocity domain, communication domain, and repetitive/stereotyped behaviors domain, respectively, which are identical to the original English standardization. Corresponding sensitivities and specificities were 76.2% and 80.9% for the social reciprocity domain; 85.7% and 73.5% for the communication domain; and 66.7% and 80.9% for the repetitive behaviors domain. The areas under the curve were 0.89 (95% CI = 0.84-0.94), 0.88 (95% CI = 0.82-0.94), and 0.79 (95% CI = 0.71-0.87), respectively. The short 3Di-Thai version is found to be a useful diagnostic instrument for differentiating between clinically diagnosed children with ASDs and typically developing children, although further replication is needed.
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5. Davies MS, Dapretto M, Sigman M, Sepeta L, Bookheimer SY. {{Neural bases of gaze and emotion processing in children with autism spectrum disorders}}. {Brain Behav};2011 (Sep);1(1):1-11.
Abnormal eye contact is a core symptom of autism spectrum disorders (ASD), though little is understood of the neural bases of gaze processing in ASD. Competing hypotheses suggest that individuals with ASD avoid eye contact due to the anxiety-provoking nature of direct eye gaze or that eye-gaze cues hold less interest or significance to children with ASD. The current study examined the effects of gaze direction on neural processing of emotional faces in typically developing (TD) children and those with ASD. While undergoing functional magnetic resonance imaging (fMRI), 16 high-functioning children and adolescents with ASD and 16 TD controls viewed a series of faces depicting emotional expressions with either direct or averted gaze. Children in both groups showed significant activity in visual-processing regions for both direct and averted gaze trials. However, there was a significant group by gaze interaction such that only TD children showed reliably greater activity in ventrolateral prefrontal cortex for direct versus averted gaze. The ASD group showed no difference between direct and averted gaze in response to faces conveying negative emotions. These results highlight the key role of eye gaze in signaling communicative intent and suggest altered processing of the emotional significance of direct gaze in children with ASD.
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6. De Felice C, Signorini C, Durand T, Ciccoli L, Leoncini S, D’Esposito M, Filosa S, Oger C, Guy A, Bultel-Ponce V, Galano JM, Pecorelli A, De Felice L, Valacchi G, Hayek J. {{Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil}}. {Genes Nutr};2012 (Mar 8)
Evidence of enhanced oxidative stress (O.S.) and lipid peroxidation has been reported in patients with Rett syndrome (RTT), a relatively rare neurodevelopmental disorder progressing in 4-stages, and mainly caused by loss-of-function mutations in the methyl-CpG-binding protein 2. No effective therapy for preventing or arresting the neurologic regression in the disease in its various clinical presentations is available. Based on our prior evidence of enhanced O.S. and lipid peroxidation in RTT patients, herein we tested the possible therapeutic effects of omega-3 polyunsaturated fatty acids (omega-3 PUFAs), known antioxidants with multiple effects, on the clinical symptoms and O.S. biomarkers in the earliest stage of RTT. A total of 20 patients in stage I were randomized (n = 10 subjects per arm) to either oral supplementation with omega-3 PUFAs-containing fish oil (DHA: 72.9 +/- 8.1 mg/kg b.w./day; EPA: 117.1 +/- 13.1 mg/kg b.w./day; total omega-3 PUFAs: 246.0 +/- 27.5 mg/kg b.w./day) for 6 months or no treatment. Primary outcomes were potential changes in clinical symptoms, with secondary outcomes including variations for five O.S. markers in plasma and/or erythrocytes (nonprotein bound iron, F(2)-dihomo-isoprostanes, F(3)-isoprostanes, F(4)-neuroprostanes, and F(2)-isoprostanes). A significant reduction in the clinical severity (in particular, motor-related signs, nonverbal communication deficits, and breathing abnormalities) together with a significant decrease in all the examined O.S. markers was observed in the omega-3 PUFAs supplemented patients, whereas no significant changes were evidenced in the untreated group. For the first time, these findings strongly suggest that a dietary intervention in this genetic disease at an early stage of its natural history can lead to a partial clinical and biochemical rescue.
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7. Kamio Y, Inada N, Koyama T. {{A Nationwide Survey on Quality of Life and Associated Factors of Adults With High-Functioning Autism Spectrum Disorders}}. {Autism};2012 (Mar 7)
The psychosocial outcomes of individuals with high-functioning autism spectrum disorder (HFASD) appear to be diverse and are often poor relative to their intellectual or language level. To identify predictive variables that are potentially ameliorable by therapeutic intervention, this study investigated self-reported psychosocial quality of life and associated factors for adults with HFASD. All participants (n = 154) had a diagnosis of autism spectrum disorder, were over 18 years of age, lived in the community, and had used one or more support services during the survey period. The results demonstrated that psychosocial quality of life was lower than that of the general Japanese adult population. Environmental factors, such as mother’s support and early diagnosis, were associated with better quality of life, and aggressive behaviors were associated with poorer quality of life, while expressive language level at preschool years, a conventional outcome predictor, did not predict quality of life. These results emphasize that quality of life measures should be included as outcome indicators in treating individuals with HFASD.
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8. Kissine M, De Brabanter P, Leybaert J. {{Compliance with requests by children with autism: the impact of sentence type}}. {Autism};2012 (Mar 7)
This study assesses the extent to which children with autism understand requests performed with grammatically non-imperative sentence types. Ten children with autism were videotaped in naturalistic conditions. Four grammatical sentence types were distinguished: imperative, declarative, interrogative and sub-sentential. For each category, the proportion of requests complied with significantly exceeded the proportion of requests not complied with, and no difference across categories was found. These results show that children with autism do not rely exclusively on the linguistic form to interpret an utterance as a request.
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9. Liu Y, Hu Z, Xun G, Peng Y, Lu L, Xu X, Xiong Z, Xia L, Liu D, Li W, Zhao J, Xia K. {{Mutation analysis of the NRXN1 gene in a Chinese autism cohort}}. {J Psychiatr Res};2012 (Mar 9)
Autism is a brain developmental disorder characterized by impaired social interaction and communication, as well as restricted and repetitive behaviors. The neurexin-1(NRXN1) gene mapped on chromosome 2p16.3 encodes neurexin, a cell adhesion molecule and receptor in the vertebrate nervous system. Rare de novo alterations and copy number variations (CNVs) suggested neurexin-1 as a candidate gene for the pathogenesis of autism, but data on the gene mutation of neurexin-1 in Chinese Han population with autism are limited. By direct sequencing, we analyzed the entire coding regions and associated splice junctions of neurexin-1 in 313 Chinese autism patients. For exons in which non-synonymous variants were identified, sequencing was performed in 500 healthy controls. We identified 22 variants in the neurexin-1 coding regions, including 7 missense variants, 3 deletions, and 12 synonymous mutations. Among them, 3 missense and 3 synonymous variants were not reported in the dbSNP database and absent in 500 control subjects; whereas 4 missense variants, 3 deletions and 3 synonymous mutations were not reported in the dbSNP database but were identified in the control subjects. However, there is no significant association of these mutations with autism risk. Interestingly, there was a statistically significant association of neurexin-1 SNP P300P (rs2303298) with risk of autism (26.2% vs. 13.8%; chi(2) = 22.487; p = 3.45E-006; OR = 2.152 (1.559-2.970)). Our data suggest a possible association of neurexin-1 with autism risk in Chinese Han population, warranting further large-scale study on this gene.
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10. Malow BA, Adkins KW, McGrew SG, Wang L, Goldman SE, Fawkes D, Burnette C. {{Erratum to: Melatonin for Sleep in Children with Autism: A Controlled Trial Examining Dose, Tolerability, and Outcomes}}. {J Autism Dev Disord};2012 (Mar 9)
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11. McCanlies EC, Fekedulegn D, Mnatsakanova A, Burchfiel CM, Sanderson WT, Charles LE, Hertz-Picciotto I. {{Parental Occupational Exposures and Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Mar 8)
Both self-report and industrial hygienist (IH) assessed parental occupational information were used in this pilot study in which 174 families (93 children with ASD and 81 unaffected children) enrolled in the Childhood Autism Risks from Genetics and Environment study participated. IH results indicated exposures to lacquer, varnish, and xylene occurred more often in the parents of children with ASD compared to the parents of unaffected children. Parents of children with ASD were more likely to report exposures to asphalt and solvents compared to parents of unaffected children. This study was limited by the small sample size, but results suggest that workplace exposures to some chemicals may be important in the etiology of ASD and deserve further investigation.
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12. Quintin EM, Bhatara A, Poissant H, Fombonne E, Levitin DJ. {{Processing of musical structure by high-functioning adolescents with autism spectrum disorders}}. {Child Neuropsychol};2012 (Mar 7)
Enhanced pitch perception and memory have been cited as evidence of a local processing bias in autism spectrum disorders (ASD). This bias is argued to account for enhanced perceptual functioning ( Mottron & Burack, 2001 ; Mottron, Dawson, Soulieres, Hubert, & Burack, 2006 ) and central coherence theories of ASD ( Frith, 1989 ; Happe & Frith, 2006 ). A local processing bias confers a different cognitive style to individuals with ASD ( Happe, 1999 ), which accounts in part for their good visuospatial and visuoconstructive skills. Here, we present analogues in the auditory domain, audiotemporal or audioconstructive processing, which we assess using a novel experimental task: a musical puzzle. This task evaluates the ability of individuals with ASD to process temporal sequences of musical events as well as various elements of musical structure and thus indexes their ability to employ a global processing style. Musical structures created and replicated by children and adolescents with ASD (10-19 years old) and typically developing children and adolescents (7-17 years old) were found to be similar in global coherence. Presenting a musical template for reference increased accuracy equally for both groups, with performance associated to performance IQ and short-term auditory memory. The overall pattern of performance was similar for both groups; some puzzles were easier than others and this was the case for both groups. Task performance was further found to be correlated with the ability to perceive musical emotions, more so for typically developing participants. Findings are discussed in light of the empathizing-systemizing theory of ASD ( Baron-Cohen, 2009 ) and the importance of describing the strengths of individuals with ASD ( Happe, 1999 ; Heaton, 2009 ).
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13. Toma C, Hervas A, Balmana N, Salgado M, Maristany M, Vilella E, Aguilera F, Orejuela C, Cusco I, Gallastegui F, Perez-Jurado LA, Caballero-Andaluz R, Diego-Otero YD, Guzman-Alvarez G, Ramos-Quiroga JA, Ribases M, Bayes M, Cormand B. {{Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC}}. {World J Biol Psychiatry};2012 (Mar 8)
Objectives. Neurotransmitter systems and neurotrophic factors can be considered strong candidates for autism spectrum disorder (ASD). The serotoninergic and dopaminergic systems are involved in neurotransmission, brain maturation and cortical organization, while neurotrophic factors (NTFs) participate in neurodevelopment, neuronal survival and synapses formation. We aimed to test the contribution of these candidate pathways to autism through a case-control association study of genes selected both for their role in central nervous system functions and for pathophysiological evidences. Methods. The study sample consisted of 326 unrelated autistic patients and 350 gender-matched controls from Spain. We genotyped 369 tagSNPs to perform a case-control association study of 37 candidate genes. Results. A significant association was obtained between the DDC gene and autism in the single-marker analysis (rs6592961, P = 0.00047). Haplotype-based analysis pinpointed a four-marker combination in this gene associated with the disorder (rs2329340C-rs2044859T-rs6592961A-rs11761683T, P = 4.988e-05). No significant results were obtained for the remaining genes after applying multiple testing corrections. However, the rs167771 marker in DRD3, associated with ASD in a previous study, displayed a nominal association in our analysis (P = 0.023). Conclusions. Our data suggest that common allelic variants in the DDC gene may be involved in autism susceptibility.
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14. Tsai WC, Soong WT, Shyu YI. {{Toddler Autism Screening Questionnaire: Development and Potential Clinical Validity}}. {Autism};2012 (Mar 7)
No feasible screening instrument is available for early detection of children with autism in Taiwan. The existing instruments may not be appropriate for use in Taiwan due to different health care systems and child-rearing cultures. The purpose of this study was to develop and test a screening questionnaire for generic autism. The initial 18-item screening questionnaire was developed by a child psychiatrist using face-to-face interviews with 10 families of children with autism and then tested on a sample of families of 18 children with autism and of 59 typically developing children. Of these 18 items, 15 had fair or better item discrimination (kappa >0.20) and were selected for the revised screening questionnaire. In the revised questionnaire, cutoff scores of 5 and 6 offered 100% sensitivity and 96.5% specificity, with the area under the receiver operating characteristic curve of 0.983. The revised screening instrument has high sensitivity and specificity, making it potentially useful for screening Taiwanese children at risk for autism. This instrument should be further tested in a population-based study.
