1. Esposito G, Valenzi S, Islam T, Bornstein MH. {{Three physiological responses in fathers and non-fathers’ to vocalizations of typically developing infants and infants with Autism Spectrum Disorder}}. {Res Dev Disabil};2015 (Jul 4);43-44:43-50.
Children with ASD, even before receiving a formal diagnosis, express atypical patterns of distress vocalizations (namely, episodes of crying). Their cries have higher fundamental frequencies, shorter inter-bout pauses, and fewer utterances. Cries of children with ASD are also perceived differently from other cries, and these perceptual differences may alter parent-infant interaction. This study assessed multiple physiological responses in fathers and non-fathers to atypical distress vocalizations (cries of children with ASD), acoustically matched typical distress vocalizations (cries of typically developing children), and positive vocalizations (laughter of typically developing children). The experimental procedures were designed to measure how components of the autonomic nervous system respond to typical and atypical infant vocalizations. Three convergent methodologies (Galvanic Skin Response-GSR; cardiac dynamics via Inter-Beat Interval-IBI; right hand temperature change-RHTC) were performed on two groups with contrasting caregiving experience: fathers of typically developing children (n=10) and non-fathers (n=10). Inferential statistical analysis compared the two groups (fathers, non-fathers) and three stimulus types (ASD cry, typical cry, laughter) for the three measures (GSR, IBI, RHTC). Both fathers and non-fathers showed greater negative responses (increased GSR) to ASD cries compared to typical cries and laughter. Fathers showed higher IBI and greater temperature increases (RHTC) than non-fathers while listening to typical and atypical cries. Fathers and non-fathers showed more emotional arousal mediated by sympathetic activation while listening to cries of children with ASD. Fathers were calmer and acted more promptly than non-fathers while listening to typical cries, perhaps because the fathers had more experience in caring for crying infants. These findings point to similarities and differences in fathers’ and non-fathers’ physiological responsiveness to cries of children with ASD and might guide specific intervention programs for parents of children at risk of ASD.
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2. Havdahl KA, von Tetzchner S, Huerta M, Lord C, Bishop SL. {{Utility of the Child Behavior Checklist as a Screener for Autism Spectrum Disorder}}. {Autism Res};2015 (Jul 3)
The Child Behavior Checklist (CBCL) has been proposed for screening of autism spectrum disorders (ASD) in clinical settings. Given the already widespread use of the CBCL, this could have great implications for clinical practice. This study examined the utility of CBCL profiles in differentiating children with ASD from children with other clinical disorders. Participants were 226 children with ASD and 163 children with attention-deficit/hyperactivity disorder, intellectual disability, language disorders, or emotional disorders, aged 2-13 years. Diagnosis was based on comprehensive clinical evaluation including well-validated diagnostic instruments for ASD and cognitive testing. Discriminative validity of CBCL profiles proposed for ASD screening was examined with area under the curve (AUC) scores, sensitivity, and specificity. The CBCL profiles showed low discriminative accuracy for ASD (AUC 0.59-0.70). Meeting cutoffs proposed for ASD was associated with general emotional/behavioral problems (EBP; mood problems/aggressive behavior), both in children with and without ASD. Cutoff adjustment depending on EBP-level was associated with improved discriminative accuracy for school-age children. However, the rate of false positives remained high in children with clinical levels of EBP. The results indicate that use of the CBCL profiles for ASD-specific screening would likely result in a large number of misclassifications. Although taking EBP-level into account was associated with improved discriminative accuracy for ASD, acceptable specificity could only be achieved for school-age children with below clinical levels of EBP. Further research should explore the potential of using the EBP adjustment strategy to improve the screening efficiency of other more ASD-specific instruments. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Khanna R, Jariwala K, West-Strum D. {{Validity and reliability of the Medical Outcomes Study Short-Form Health Survey version 2 (SF-12v2) among adults with autism}}. {Res Dev Disabil};2015 (Jul 4);43-44:51-60.
BACKGROUND: The purpose of the study was to assess the validity and reliability of the Medical Outcomes Study Short Form-12 version 2 (SF-12v2) instrument among adults with autism. METHODS: Study data was collected using a cross-sectional online survey of adults with autism enrolled with the Interactive Autism Network (N=291). Factorial validity was assessed using confirmatory factor analysis technique. Item-scale correlations were examined for convergent validity. Known-groups validity was assessed by examining the variation in Physical Component Summary (PCS) and Mental Component Summary (MCS) scores by autism severity. Cronbach’s alpha was determined for internal consistency reliability. Floor and ceiling effects were also assessed. RESULTS: A two-factor model with correlated error terms was found to have a good fit. The PCS scale strongly correlated with the underlying items representing the scale. The MCS scale had strong to moderate correlation with its underlying items. For known-groups validity, the MCS score varied as expected with lower score observed among adults with high severity as compared to low severity; however, PCS score varied inversely. Internal consistent reliability of the SF-12v2 was good, and there were no floor and ceiling effects. CONCLUSIONS: Except for known-groups validity, all other psychometric indicators performed well for the SF-12v2.
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4. Motanis H, Buonomano D. {{Delayed in vitro Development of Up States but Normal Network Plasticity in Fragile X Circuits}}. {Eur J Neurosci};2015 (Jul 1)
Since the generation of the first mouse model of Fragile X Syndrome (FXS) a broad range of neurophysiological phenotypes have been reported. However, it remains unclear which phenotypes are casually related to the cognitive deficits associated with FXS. Indeed, because many of these phenotypes are known to be modulated by experience, a confounding factor in the interpretation of many studies is whether some phenotypes are an indirect consequence of abnormal development and experience. To help diminish this confound we first conducted an in vitro developmental study of spontaneous neural dynamics in cortical organotypic cultures. A significant developmental increase in network activity and Up states was observed in both WT and Fmr1-/y circuits, along with a specific developmental delay in the emergence of Up states in knockout circuits. To determine whether Up state regulation is generally impaired in FXS circuits, we examined Up state plasticity using chronic optogenetic stimulation. WT and Fmr1-/y stimulated circuits exhibited a significant decrease in overall spontaneous activity including Up state frequency; however, no significant effect of genotype was observed. These results demonstrate that developmental delays characteristic of FXS are recapitulated during in vitro development, and that Up state abnormalities are likely a direct consequence of the disease, and not an indirect consequence of abnormal experience. But the fact that Fmr1-/y circuits exhibited normal homeostatic modulation of Up states, suggests that these plasticity mechanisms are largely intact, and that some of the previously reported plasticity deficits could reflect abnormal experience or the engagement of compensatory mechanisms. This article is protected by copyright. All rights reserved.
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5. Mugzach O, Peleg M, Bagley SC, Guter SJ, Cook EH, Altman RB. {{An ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data}}. {J Biomed Inform};2015 (Jul 4)
OBJECTIVE: Our goal is to create an ontology that will allow data integration and reasoning with subject data to classify subjects, and based on this classification, to infer new knowledge on Autism Spectrum Disorder (ASD) and related neurodevelopmental disorders (NDD). We take a first step toward this goal by extending an existing autism ontology to allow automatic inference of ASD phenotypes and Diagnostic & Statistical Manual of Mental Disorders (DSM) criteria based on subjects’ Autism Diagnostic Interview-Revised (ADI-R) assessment data. MATERIALS AND METHODS: Knowledge regarding diagnostic instruments, ASD phenotypes and risk factors was added to augment an existing autism ontology via Ontology Web Language class definitions and semantic web rules. We developed a custom Protege plugin for enumerating combinatorial OWL axioms to support the many-to-many relations of ADI-R items to diagnostic categories in the DSM. We utilized a reasoner to infer whether 2642 subjects, whose data was obtained from the Simons Foundation Autism Research Initiative, meet DSM-IV-TR (DSM-IV) and DSM-5 diagnostic criteria based on their ADI-R data. RESULTS: We extended the ontology by adding 443 classes and 632 rules that represent phenotypes, along with their synonyms, environmental risk factors, and frequency of comorbidities. Applying the rules on the data set showed that the method produced accurate results: the true positive and true negative rates for inferring autistic disorder diagnosis according to DSM-IV criteria were 1 and 0.065, respectively; the true positive rate for inferring ASD based on DSM-5 criteria was 0.94. DISCUSSION: The ontology allows automatic inference of subjects’ disease phenotypes and diagnosis with high accuracy. CONCLUSION: The ontology may benefit future studies by serving as a knowledge base for ASD. In addition, by adding knowledge of related NDDs, commonalities and differences in manifestations and risk factors could be automatically inferred, contributing to the understanding of ASD pathophysiology.
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6. Neuhaus E, Kresse A, Faja S, Bernier RA, Webb SJ. {{Face processing among twins with and without autism: Social correlates and twin concordance}}. {Soc Cogn Affect Neurosci};2015 (Jul 2)
Autism spectrum disorder (ASD) has a strong heritable basis, as evidenced by twin concordance rates. Within ASD, symptom domains may arise via independent genetic contributions, with varying heritabilities and genetic mechanisms. In this paper, we explore social functioning in the form of (1) electrophysiological and behavioral measures of face processing (P1 and N170), and (2) social behavior among child and adolescent twins with (N=52) and without ASD (N=66). Twins without ASD had better holistic face processing and face memory, faster P1 responses, and greater sensitivity to the effects of facial inversion on P1. In contrast, N170 responses to faces were similar across diagnosis, with more negative amplitudes for faces versus non-face images. Across the sample, stronger social skills and fewer social difficulties were associated with faster P1 and N170 responses to upright faces, and better face memory. Twins were highly correlated within pairs across most measures, but correlations were significantly stronger for monozygotic versus dizygotic pairs on N170 latency and social problems. We suggest common developmental influences across twins for face processing and social behavior, but highlight (1) neural speed of face processing, and (2) social difficulties as important avenues in the search for genetic underpinnings in ASD.
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7. Pusponegoro HD, Ismael S, Firmansyah A, Sastroasmoro S, Vandenplas Y. {{Gluten and casein supplementation does not increase symptoms in children with autism spectrum disorder}}. {Acta Paediatr};2015 (Jul 4)
AIM: A gluten and casein-free diet is often given to children with autism spectrum disorders (ASD). We aimed to determine the effect of gluten and casein supplementation on maladaptive behaviour, gastrointestinal symptom severity and intestinal fatty acids binding protein (I-FABP) excretion in children with ASD. METHODS: A randomised, controlled, double-blind trial was performed on 74 children with ASD with severe maladaptive behaviour and increased urinary I-FABP. Subjects were randomised to receive gluten-casein or a placebo for seven days. We evaluated maladaptive behaviour before and after supplementation, using I-FABP excretion, the approach withdrawal problem composite subtest of the Pervasive Developmental Disorder Behavior Inventory and the Gastrointestinal Symptom Severity Index. RESULTS: The mean approach withdrawal problem composite score was significantly higher before supplementation than after, both in the placebo and in the gluten-casein group. However, the mean difference was not significant and may have been caused by additional therapy. There was no significant difference in gastrointestinal symptoms and urinary I-FABP excretion. CONCLUSION: Administrating gluten-casein to children with ASD for one week did not increase maladaptive behaviour, gastrointestinal symptom severity or urinary I-FABP excretion. The effect of prolonged administration or other mechanisms of enterocyte damage in ASD should be explored. This article is protected by copyright. All rights reserved.
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8. Schaer M, Kochalka J, Padmanabhan A, Supekar K, Menon V. {{Sex differences in cortical volume and gyrification in autism}}. {Mol Autism};2015;6:42.
BACKGROUND: Male predominance is a prominent feature of autism spectrum disorders (ASD), with a reported male to female ratio of 4:1. Because of the overwhelming focus on males, little is known about the neuroanatomical basis of sex differences in ASD. Investigations of sex differences with adequate sample sizes are critical for improving our understanding of the biological mechanisms underlying ASD in females. METHODS: We leveraged the open-access autism brain imaging data exchange (ABIDE) dataset to obtain structural brain imaging data from 53 females with ASD, who were matched with equivalent samples of males with ASD, and their typically developing (TD) male and female peers. Brain images were processed with FreeSurfer to assess three key features of local cortical morphometry: volume, thickness, and gyrification. A whole-brain approach was used to identify significant effects of sex, diagnosis, and sex-by-diagnosis interaction, using a stringent threshold of p < 0.01 to control for false positives. Stability and power analyses were conducted to guide future research on sex differences in ASD. RESULTS: We detected a main effect of sex in the bilateral superior temporal cortex, driven by greater cortical volume in females compared to males in both the ASD and TD groups. Sex-by-diagnosis interaction was detected in the gyrification of the ventromedial/orbitofrontal prefrontal cortex (vmPFC/OFC). Post-hoc analyses revealed that sex-by-diagnosis interaction was driven by reduced vmPFC/OFC gyrification in males with ASD, compared to females with ASD as well as TD males and females. Finally, stability analyses demonstrated a dramatic drop in the likelihood of observing significant clusters as the sample size decreased, suggesting that previous studies have been largely underpowered. For instance, with a sample of 30 females with ASD (total n = 120), a significant sex-by-diagnosis interaction was only detected in 50 % of the simulated subsamples. CONCLUSIONS: Our results demonstrate that some features of typical sex differences are preserved in the brain of individuals with ASD, while others are not. Sex differences in ASD are associated with cortical regions involved in language and social function, two domains of deficits in the disorder. Stability analyses provide novel quantitative insights into why smaller samples may have previously failed to detect sex differences.
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9. Searing BM, Graham F, Grainger R. {{Support Needs of Families Living with Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jul 4)
This study examined the perceived availability and helpfulness of supports used by caregivers of children with Autism Spectrum Disorder in New Zealand, particularly for caregivers who are Maori, and who live rurally. Caregivers (N = 92) completed the Family Support Scale with comparisons analysed using t tests. Free text comments were invited and analysed using a general inductive approach. More support was perceived as available by Non-Maori than Maori p = 0.03, 95 % CI (0.21, 3.88). Spouses were rated as the most helpful support. Professional helpers were rated as ‘somewhat helpful’. Helpful support emphasised caring, knowledge and accessibility. Ethnic differences in perceptions of support endorse calls for culturally tailored supports. Informal supports are highly valued however professional supports require development to better meet caregiver needs.
