1. Arif MM, Niazy A, Hassan B, Ahmed F. {{Awareness of autism in primary school teachers}}. {Autism research and treatment}. 2013;2013:961595.
Objective. To assess the knowledge and perception of primary school teachers regarding autism in private and public schools of Karachi, Pakistan. Methods. A cross-sectional survey was conducted on primary school teachers in different districts of Karachi. A sample size of 170 teachers was selected by purposive sampling. Primary data was collected using self-administered questionnaires. These questions assessed the teacher’s knowledge and perception of Autism. Data was entered on SPSS version 20. Frequencies and percentages were taken out for categorical variables. Results. Of the total 170 teachers, 85 were from the Private and 85 from Public sector schools. 55% (n = 94) of the teachers knew about Autism through the media and only 9% (n = 15) had formal training through workshops on Autism. 62% (n = 105) of the teachers were of the opinion that Autism is treatable. Majority of the teachers (57%) said that proper training is required for teaching autistic children. Conclusion. The knowledge related to Autism in our existing sample has mostly come from the media. Although we cannot undermine the role of media, there is a need to give formal training to teachers regarding the differentiating features of Autism, which in turn will aid in early diagnosis of the disease.
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2. Chiang HM, Tsai LY, Cheung YK, Brown A, Li H. {{A Meta-Analysis of Differences in IQ Profiles Between Individuals with Asperger’s Disorder and High-Functioning Autism}}. {J Autism Dev Disord}. 2013 Dec 22.
A meta-analysis was performed to examine differences in IQ profiles between individuals with Asperger’s disorder (AspD) and high-functioning autism (HFA). Fifty-two studies were included for this study. The results showed that (a) individuals with AspD had significantly higher full-scale IQ, verbal IQ (VIQ), and performance IQ (PIQ) than did individuals with HFA; (b) individuals with AspD had significantly higher VIQ than PIQ; and (c) VIQ was similar to PIQ in individuals with HFA. These findings seem to suggest that AspD and HFA are two different subtypes of Autism. The implications of the present findings to DSM-5 Autism Spectrum Disorder are discussed.
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3. Gallagher S, Hannigan A. {{Depression and chronic health conditions in parents of children with and without developmental disabilities: The growing up in Ireland cohort study}}. {Research in developmental disabilities}. 2013 Dec 18;35(2):448-54.
Epidemiological evidence suggests that poor physical health and depression are highly co-morbid. To date, however, no study has considered whether depression in parents caring for children with developmental disabilities is partly driven by poor physical health. Using data from the Growing Up in Ireland national cohort study (2006 to date), 627 parents of children with developmental disabilities were compared with 7941 parents of typically developing children on scores from the Centre for Epidemiological Depression Scale, chronic health conditions, socio-demographic and child behavioural characteristics. Having a child with disabilities was associated with a higher risk of depression (odds ratio (OR)=1.83, 95% confidence interval (CI): 1.43, 2.35) compared to parents of typically developing children. Adjusting for the presence of chronic health conditions accounted for some of this excess risk (OR=1.77, 95% CI: 1.38, 2.27). The association between having a child with disabilities and increased risk of depression was explained, however, by adjusting for the child problem behaviours (OR=1.07, 95% CI: 0.81, 1.43). This study has confirmed, in a population-based sample, the high risk of depression in parents caring for children with developmental disabilities after adjusting for the presence of a chronic health condition. Importantly, given that poor mental health in these parents is associated with a battery of negative health and social family outcomes, it is imperative that health professionals pay attention to the mental health needs of these parents.
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4. Gilbert JA, Krajmalnik-Brown R, Porazinska DL, Weiss SJ, Knight R. {{Toward effective probiotics for autism and other neurodevelopmental disorders}}. {Cell}. 2013 Dec 19;155(7):1446-8.
Hsaio and colleagues link gut microbes to autism spectrum disorders (ASD) in a mouse model. They show that ASD symptoms are triggered by compositional and structural shifts of microbes and associated metabolites, but symptoms are relieved by a Bacteroides fragilis probiotic. Thus probiotics may provide therapeutic strategies for neurodevelopmental disorders.
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5. Gordon I, Vander Wyk BC, Bennett RH, Cordeaux C, Lucas MV, Eilbott JA, Zagoory-Sharon O, Leckman JF, Feldman R, Pelphrey KA. {{Oxytocin enhances brain function in children with autism}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2013 Dec 24;110(52):20953-8.
Following intranasal administration of oxytocin (OT), we measured, via functional MRI, changes in brain activity during judgments of socially (Eyes) and nonsocially (Vehicles) meaningful pictures in 17 children with high-functioning autism spectrum disorder (ASD). OT increased activity in the striatum, the middle frontal gyrus, the medial prefrontal cortex, the right orbitofrontal cortex, and the left superior temporal sulcus. In the striatum, nucleus accumbens, left posterior superior temporal sulcus, and left premotor cortex, OT increased activity during social judgments and decreased activity during nonsocial judgments. Changes in salivary OT concentrations from baseline to 30 min postadministration were positively associated with increased activity in the right amygdala and orbitofrontal cortex during social vs. nonsocial judgments. OT may thus selectively have an impact on salience and hedonic evaluations of socially meaningful stimuli in children with ASD, and thereby facilitate social attunement. These findings further the development of a neurophysiological systems-level understanding of mechanisms by which OT may enhance social functioning in children with ASD.
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6. He Z, O’Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. {{Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data}}. {American journal of human genetics}. 2013 Dec 18.
Many population-based rare-variant (RV) association tests, which aggregate variants across a region, have been developed to analyze sequence data. A drawback of analyzing population-based data is that it is difficult to adequately control for population substructure and admixture, and spurious associations can occur. For RVs, this problem can be substantial, because the spectrum of rare variation can differ greatly between populations. A solution is to analyze parent-child trio data, by using the transmission disequilibrium test (TDT), which is robust to population substructure and admixture. We extended the TDT to test for RV associations using four commonly used methods. We demonstrate that for all RV-TDT methods, using proper analysis strategies, type I error is well-controlled even when there are high levels of population substructure or admixture. For trio data, unlike for population-based data, RV allele-counting association methods will lead to inflated type I errors. However type I errors can be properly controlled by obtaining p values empirically through haplotype permutation. The power of the RV-TDT methods was evaluated and compared to the analysis of case-control data with a number of genetic and disease models. The RV-TDT was also used to analyze exome data from 199 Simons Simplex Collection autism trios and an association was observed with variants in ABCA7. Given the problem of adequately controlling for population substructure and admixture in RV association studies and the growing number of sequence-based trio studies, the RV-TDT is extremely beneficial to elucidate the involvement of RVs in the etiology of complex traits.
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7. Hellendoorn A, Langstraat I, Wijnroks L, Buitelaar JK, van Daalen E, Leseman PP. {{The relationship between atypical visual processing and social skills in young children with autism}}. {Research in developmental disabilities}. 2013 Dec 17;35(2):423-8.
The present study examined whether atypical visual processing is related to the level of social skills in children with autism spectrum disorder (ASD). Thirty-eight young children with ASD (29 boys, 9 girls) were included. Atypical visual processing was assessed by coding the number of lateral glances and the amount of object grouping behavior on videotaped observations of the ADOS (aged 35+/-9months). The level of social skills was measured using the subscale interpersonal relationships of the Vineland SEEC (32+/-7months). A negative relationship with a medium effect size was found between lateral glances and interpersonal relationships. Object grouping behavior and interpersonal relationships were not related. This study suggests that visual perception may be a mechanism in the development of interpersonal relationships in ASD, which is in accordance with an embodied approach to social cognition.
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8. Hinkka-Yli-Salomaki S, Banerjee PN, Gissler M, Lampi KM, Vanhala R, Brown AS, Sourander A. {{The incidence of diagnosed autism spectrum disorders in Finland}}. {Nordic journal of psychiatry}. 2013 Dec 20.
Background: Previous reports indicate an increase in incidence of autism spectrum disorders (ASD). Aims: First, to assess the incidence of diagnosed ASD in children born between 1996 and 1998, based on nationwide inpatient and outpatient register information. Second, to investigate the incidence rate over time of diagnosed ASD and specifically childhood autism, Asperger’s syndrome and pervasive developmental disorder (PDD-NOS) in children born between 1987 and 1998. Methods: This is population-based cohort study with children born in Finland between 1 January 1987 and 31 December 2005; a total of more than 1.2 million children. Children were identified in the Finnish Hospital Discharge Register, and the reported diagnoses were based on the International Statistical Classification of Diseases (ICD-10, ICD-9). Results: The annual incidence rate of diagnosed ASD based on inpatient and outpatient register data was 53.7 per 10,000 (95% CI 50.4-57.2). Incidence was 82.6 per 10,000 in boys and 23.6 per 10,000 in girls, yielding a sex ratio (boys:girls) of 3.5:1. We report an eightfold increase in the incidence rates in children of diagnosed ASD and specifically in childhood autism, Asperger’s syndrome and PDD-NOS and born between 1987 and 1992 based on inpatient register information. Conclusions: Increased awareness of ASD, more precise diagnostic criteria and changes in practice for diagnosing autism may have had a substantial effect on the increased incidence of inpatient treated ASD cases from 1987 to 1992. Between 1992 and 1998, the incidence rate based on inpatient and outpatient service use remained rather stable.
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9. Hofheimer JA, Sheinkopf SJ, Eyler LT. {{Autism risk in very preterm infants-new answers, more questions}}. {The Journal of pediatrics}. 2014 Jan;164(1):6-8.
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10. Hu VW, Lai Y. {{Developing a Predictive Gene Classifier for Autism Spectrum Disorders Based upon Differential Gene Expression Profiles of Phenotypic Subgroups}}. {North American journal of medicine & science}. 2013;6(3).
Autism spectrum disorders (ASD) are neurodevelopmental disorders which are currently diagnosed solely on the basis of abnormal stereotyped behavior as well as observable deficits in communication and social functioning. Although a variety of candidate genes have been identified on the basis of genetic analyses and up to 20% of ASD cases can be collectively associated with a genetic abnormality, no single gene or genetic variant is applicable to more than 1-2 percent of the general ASD population. In this report, we apply class prediction algorithms to gene expression profiles of lymphoblastoid cell lines (LCL) from several phenotypic subgroups of idiopathic autism defined by cluster analyses of behavioral severity scores on the Autism Diagnostic Interview-Revised diagnostic instrument for ASD. We further demonstrate that individuals from these ASD subgroups can be distinguished from nonautistic controls on the basis of limited sets of differentially expressed genes with a predicted classification accuracy of up to 94% and sensitivities and specificities of ~90% or better, based on support vector machine analyses with leave-one-out validation. Validation of a subset of the « classifier » genes by high-throughput quantitative nuclease protection assays with a new set of LCL samples derived from individuals in one of the phenotypic subgroups and from a new set of controls resulted in an overall class prediction accuracy of ~82%, with ~90% sensitivity and 75% specificity. Although additional validation with a larger cohort is needed, and effective clinical translation must include confirmation of the differentially expressed genes in primary cells from cases earlier in development, we suggest that such panels of genes, based on expression analyses of phenotypically more homogeneous subgroups of individuals with ASD, may be useful biomarkers for diagnosis of subtypes of idiopathic autism.
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11. Jimenez L, Lorda MJ, Mendez C. {{Emulation and Mimicry in School Students with Typical Development and with High Functioning Autism}}. {J Autism Dev Disord}. 2013 Dec 22.
Two samples of participants with typical development (TD) and high functioning autism performed an imitation task where the goal was of high or low salience, and where the modeled action complied with or was contrary to the end-state comfort (ESC) effect. Imitation was affected by the ESC effect in both groups, and participants with autism reproduced high salient goals as frequently as did participants with TD, but they reproduced less of the low salient goals. Participants with autism showed a reduced tendency to reproduce those actions which were relatively inefficient to reach the goals. The results are discussed in terms of either a relative imbalance between emulation and mimicry in autism, or a reduced tendency to overimitate.
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12. Jones EJ, Gliga T, Bedford R, Charman T, Johnson MH. {{Developmental pathways to autism: A review of prospective studies of infants at risk}}. {Neuroscience and biobehavioral reviews}. 2013 Dec 18.
Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social interaction and communication, and the presence of restrictive and repetitive behaviors. Symptoms of ASD likely emerge from a complex interaction between pre-existing neurodevelopmental vulnerabilities and the child’s environment, modified by compensatory skills and protective factors. Prospective studies of infants at high familial risk for ASD (who have an older sibling with a diagnosis) are beginning to characterize these developmental pathways to the emergence of clinical symptoms. Here, we review the range of behavioral and neurocognitive markers for later ASD that have been identified in high-risk infants in the first years of life. We discuss theoretical implications of emerging patterns, and identify key directions for future work, including potential resolutions to several methodological challenges for the field. Mapping how ASD unfolds from birth is critical to our understanding of the developmental mechanisms underlying this disorder. A more nuanced understanding of developmental pathways to ASD will help us not only to identify children who need early intervention, but also to improve the range of interventions available to them.
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13. Malkki H. {{Neurodevelopmental disorders: Human gut microbiota alleviate behavioural symptoms in a mouse model of autism spectrum disorder}}. {Nature reviews Neurology}. 2013 Dec 24.
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14. Mikhailov A, Fennell A, Plong-On O, Sripo T, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Vincent JB, Limprasert P. {{Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder}}. {Psychiatric genetics}. 2014 Feb;24(1):42-3.
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15. Rutter M. {{Addressing the issue of fractionation in autism spectrum disorder: A commentary on Brunsdon and Happe, Frazier et al., Hobson and Mandy et al}}. {Autism}. 2014 Jan;18(1):55-7.
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16. Samson AC, Phillips JM, Parker KJ, Shah S, Gross JJ, Hardan AY. {{Emotion Dysregulation and the Core Features of Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2013 Dec 21.
The aim of this study was to examine the relationship between emotion dysregulation and the core features of Autism Spectrum Disorder (ASD), which include social/communication deficits, restricted/repetitive behaviors, and sensory abnormalities. An 18-item Emotion Dysregulation Index was developed on the basis of expert ratings of the Child Behavior Checklist. Compared to typically developing controls, children and adolescents with ASD showed more emotion dysregulation and had significantly greater symptom severity on all scales. Within ASD participants, emotion dysregulation was related to all core features of the disorder, but the strongest association was with repetitive behaviors. These findings may facilitate the development of more effective therapeutic strategies targeting emotion dysregulation in order to optimize long-term outcomes for individuals with ASD.
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17. Schwartz C, Dratsch T, Vogeley K, Bente G. {{Brief Report: Impression Formation in High-Functioning Autism: Role of Nonverbal Behavior and Stereotype Activating Information}}. {J Autism Dev Disord}. 2013 Dec 22.
Little is known about whether stereotypes influence social judgments of autistic individuals, in particular when they compete with tacit face-to-face cues. We compared impression formation of 17 subjects with high-functioning autism (HFA) and 17 age-, gender- and IQ-matched controls. Information about the profession of a job applicant served as stereotype activating information. The target person’s nonverbal behavior was presented as a computer animation showing two virtual characters in interaction. Contrary to our hypothesis, HFA participants were as sensitive to nonverbal cues as controls. Moreover, HFA showed a tendency to evaluate persons more positively. This might indicate a routine HFA apply in impression formation in order to compensate for their deficit in intuitive understanding of nonverbal communication cues.
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18. Sharpe MA, Gist TL, Baskin DS. {{Alterations in sensitivity to estrogen, dihydrotestosterone, and xenogens in B-lymphocytes from children with autism spectrum disorder and their unaffected twins/siblings}}. {Journal of toxicology}. 2013;2013:159810.
It has been postulated that androgen overexposure in a susceptible person leads to excessive brain masculinization and the autism spectrum disorder (ASD) phenotype. In this study, the responses to estradiol (E2), dihydrotestosterone (DHT), and dichlorodiphenyldichloroethylene (DDE) on B-lymphocytes from ASD subjects and controls are compared. B cells were obtained from 11 ASD subjects, their unaffected fraternal twins, and nontwin siblings. Controls were obtained from a different cell bank. Lactate dehydrogenase (LDH) and sodium 2,3-bis(2-methoxy-4-nitro-5-sulfophenyl)-2H-tetrazolium-5-carboxanilide (XTT) reduction levels were measured after incubation with different concentrations of E2, DHT, and DDE. XTT/LDH ratio, representative of mitochondria number per cell, was calculated. E2, DHT, and DDE all cause « U »-shaped growth curves, as measured by LDH levels. ASD B cells show less growth depression compared to siblings and controls (P < 0.01). They also have reduced XTT/LDH ratios (P < 0.01) when compared to external controls, whereas siblings had values of XTT/LDH between ASD and external controls. B-lymphocytes from people with ASD exhibit a differential response to E2, DHT, and hormone disruptors in regard to cell growth and mitochondrial upregulation when compared to non-ASD siblings and external controls. Specifically, ASD B-lymphocytes show significantly less growth depression and less mitochondrial upregulation when exposed to these effectors. A mitochondrial deficit in ASD individuals is implied.
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19. Silverman JL, Crawley JN. {{The promising trajectory of autism therapeutics discovery}}. {Drug discovery today}. 2013 Dec 18.
Pharmacological interventions for neurodevelopmental disorders are increasingly tractable. Autism is a neurodevelopmental disorder that affects approximately 1% of the population. Currently, the standard of care is early behavioral therapy. No approved medical treatments for the diagnostic symptoms are available. Strong evidence for genetic causes of autism implicates proteins that mediate synaptic transmission and structure. Mouse models with targeted mutations in these synaptic genes show behavioral symptoms relevant to the social communication abnormalities and repetitive behaviors that define autism spectrum disorder (ASD), along with biological abnormalities in synaptic physiology and morphology. As we discuss here, promising pharmacological targets, emerging from the mouse model studies, are now being pursued in early clinical trials. Thus, a high-prevalence disorder that was previously considered to be medically untreatable is now moving into the therapeutic arena.
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20. White S, Frith U, Rellecke J, Al-Noor Z, Gilbert SJ. {{Autistic adolescents show atypical activation of the brain’s mentalizing system even without a prior history of mentalizing problems}}. {Neuropsychologia}. 2013 Dec 19.
Some autistic children pass classic Theory of Mind (ToM) tasks that others fail, but the significance of this finding is at present unclear. We identified two such groups of primary school age (labelled ToM+ and ToM-) and a matched comparison group of typically developing children (TD). Five years later we tested these participants again on a ToM test battery appropriate for adolescents and conducted an fMRI study with a story based ToM task. We also assessed autistic core symptoms at these two time points. At both times the ToM- group showed more severe social communication impairments than the ToM+ group, and while showing an improvement in mentalizing performance, they continued to show a significant impairment compared to the NT group. Two independent ROI analyses of the BOLD signal showed activation of the mentalizing network including medial prefrontal cortex, posterior cingulate and lateral temporal cortices. Strikingly, both ToM+ and ToM- groups showed very similar patterns of heightened activation in comparison with the NT group. No differences in other brain regions were apparent. Thus, autistic adolescents who do not have a history of mentalizing problems according to our ToM battery showed the same atypical neurophysiological response during mentalizing as children who did have such a history. This finding indicates that heterogeneity at the behavioural level may nevertheless map onto a similar phenotype at the neuro-cognitive level.
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21. Zerbo O, Qian Y, Yoshida C, Grether JK, Van de Water J, Croen LA. {{Maternal Infection During Pregnancy and Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013 Dec 24.
We conducted a nested case-control study including 407 cases and 2,075 frequency matched controls to investigate the association between maternal infections during pregnancy and risk of autism spectrum disorders (ASD). Cases, controls, and maternal infections were ascertained from Kaiser Permanente Northern California clinical databases. No overall association between diagnoses of any maternal infection during pregnancy and ASD was observed [adjusted odds ratio (ORadj) = 1.15, 95 % confidence interval (CI) 0.92-1.43]. However, women with infections diagnosed during a hospital admission (ORadj = 1.48, 95 % CI 1.07-2.04), particularly bacterial infections (ORadj = 1.58, 95 % CI 1.06-2.37), were at increased risk of delivering a child with ASD. Multiple infections during pregnancy were associated with ASD (ORadj = 1.36, 95 % CI 1.05-1.78).
