1. Lecavalier L, Mandell D. {{Autism Developmental Disabilities Monitoring Network surveillance: A reply to Drs Durkin, Bilder, Pettygrove, and Zahorodny}}. {Autism};2014 (Sep 15)
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2. Durkin MS, Bilder DA, Pettygrove S, Zahorodny W. {{The validity and usefulness of public health surveillance of autism spectrum disorder}}. {Autism};2014 (Sep 15)
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3. Dickinson A, Milne E. {{Enhanced and impaired sensory discrimination in autism}}. {J Neurophysiol};2014 (Sep 15);112(6):1599.
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4. Lassalle A, Itier RJ. {{Autistic traits influence gaze-oriented attention to happy but not fearful faces}}. {Soc Neurosci};2014 (Sep 15):1-19.
The relationship between autistic traits and gaze-oriented attention to fearful and happy faces was investigated at the behavioral and neuronal levels. Upright and inverted dynamic face stimuli were used in a gaze-cueing paradigm while event related potentials (ERPs) were recorded. Participants responded faster to gazed-at than to non-gazed-at targets, and this gaze orienting effect (GOE) diminished with inversion, suggesting it relies on facial configuration. It was also larger for fearful than happy faces but only in participants with high autism-spectrum quotient (AQ) scores. While the GOE to fearful faces was of similar magnitude regardless of AQ scores, a diminished GOE to happy faces was found in participants with high AQ scores. At the ERP level, a congruency effect on target-elicited P1 component reflected enhanced visual processing of gazed-at targets. In addition, cue-triggered early directing attention negativity and anterior directing attention negativity reflected, respectively, attention orienting and attention holding at gazed-at locations. These neural markers of spatial attention orienting were not modulated by emotion and were not found in participants with high AQ scores. Together, these findings suggest that autistic traits influence attention orienting to gaze and its modulation by social emotions such as happiness.
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5. Joyce HD, Hoffman J, Anderson-Butcher D, Moodie-Dyer A. {{Fiscal Mapping Autism Spectrum Disorder Funds: A Case Study of Ohio}}. {J Soc Work Disabil Rehabil};2014 (Sep 15)
Individuals with autism spectrum disorders (ASD) have complex needs requiring regular service utilization. Policymakers, administrators, and community leaders are looking for ways to finance ASD services and systems. Understanding the fiscal resources that support ASD services is essential. This paper uses fiscal mapping to explore ASD funding streams in Ohio. Fiscal mapping steps are overviewed to assist ASD stakeholders in identifying and examining ASD-related funding. Implications are drawn related to how fiscal mapping may be used to identify and leverage funding for ASD services. The resulting information is critical to utilizing existing resources, advocating for resources, and leveraging available funds.
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6. Thackeray LA, Eatough V. {{‘Well the Future, that is Difficult’: A Hermeneutic Phenomenological Analysis Exploring the Maternal Experience of Parenting a Young Adult with a Developmental Disability}}. {J Appl Res Intellect Disabil};2014 (Sep 15)
BACKGROUND: The predominant focus of extant literature exploring maternal experience of developmental disability has been stress, adaptation, efficacy of interventions and the burden of care. Most studies involve mothers of children, with scant attention given to what life is like later. This study qualitatively explores the experience of mothers of young adults (aged 19-28). MATERIALS AND METHODS: Semi-structured interviews conducted with six women aged 48-60 were transcribed and analysed using interpretative phenomenological analysis. RESULTS: Three themes illustrate how mothers are confronted with their adult children’s continuing need for support and how a lack of trust in social care creates anxiety about the future, increasing awareness of mortality. CONCLUSIONS: Vulnerability represents a useful concept for understanding these findings theoretically. Galvin & Todres’ (2013) conceptual framework for the humanization of care provides the opportunity to prioritize the needs of individuals by highlighting dimensions of existence which confer meaning.
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7. Wang S, Xu J, Jiang M, Zhao Q, Hurlemann R, Adolphs R. {{Autism spectrum disorder, but not amygdala lesions, impairs social attention in visual search}}. {Neuropsychologia};2014 (Sep 8)
People with autism spectrum disorders (ASD) have pervasive impairments in social interactions, a diagnostic component that may have its roots in atypical social motivation and attention. One of the brain structures implicated in the social abnormalities seen in ASD is the amygdala. To further characterize the impairment of people with ASD in social attention, and to explore the possible role of the amygdala, we employed a series of visual search tasks with both social (faces and people with different postures, emotions, ages, and genders) and non-social stimuli (e.g., electronics, food, and utensils). We first conducted trial-wise analyses of fixation properties and elucidated visual search mechanisms. We found that an attentional mechanism of initial orientation could explain the detection advantage of non-social targets. We then zoomed into fixation-wise analyses. We defined target-relevant effects as the difference in the percentage of fixations that fell on target-congruent vs. target-incongruent items in the array. In Experiment 1, we tested 8 high-functioning adults with ASD, 3 adults with focal bilateral amygdala lesions, and 19 controls. Controls rapidly oriented to target-congruent items and showed a strong and sustained preference for fixating them. Strikingly, people with ASD oriented significantly less and more slowly to target-congruent items, an attentional deficit especially with social targets. By contrast, patients with amygdala lesions performed indistinguishably from controls. In Experiment 2, we recruited a different sample of 13 people with ASD and 8 healthy controls, and tested them on the same search arrays but with all array items equalized for low-level saliency. The results replicated those of Experiment 1. In Experiment 3, we recruited 13 people with ASD, 8 healthy controls, 3 amygdala lesion patients and another group of 11 controls and tested them on a simpler array. Here our group effect for ASD strongly diminished and all four subject groups showed similar target-relevant effects. These findings argue for an attentional deficit in ASD that is disproportionate for social stimuli, cannot be explained by low-level visual properties of the stimuli, and is more severe with high-load top-down task demands. Furthermore, this deficit appears to be independent of the amygdala, and not evident from general social bias independent of the target-directed search.
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8. Lee BK, Magnusson C, Gardner RM, Blomstrom A, Newschaffer CJ, Burstyn I, Karlsson H, Dalman C. {{Maternal hospitalization with infection during pregnancy and risk of autism spectrum disorders}}. {Brain Behav Immun};2014 (Sep 13)
Animal models indicate that maternal infection during pregnancy can result in behavioral abnormalities and neuropathologies in offspring. We examined the association between maternal inpatient diagnosis with infection during pregnancy and risk of ASD in a Swedish nationwide register-based birth cohort born 1984-2007 with follow-up through 2011. In total, the sample consisted of 2,371,403 persons with 24,414 ASD cases. Infection during pregnancy was defined from ICD codes. In the sample, 903 mothers of ASD cases (3.7%) had an inpatient diagnosis of infection during pregnancy. Logistic regression models adjusted for a number of covariates yielded odds ratios indicating approximately a 30% increase in ASD risk associated with any inpatient diagnosis of infection. Timing of infection did not appear to influence risk in the total Swedish population, since elevated risk of ASD was associated with infection in all trimesters. In a subsample analysis, infections were associated with greater risk of ASD with intellectual disability than for ASD without intellectual disability. The present study adds to the growing body of evidence, encompassing both animal and human studies, that supports possible immune-mediated mechanisms underlying the etiology of ASD.
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9. Van Schalkwyk GI, Peluso F, Qayyum Z, McPartland JC, Volkmar FR. {{Varieties of Misdiagnosis in ASD: An Illustrative Case Series}}. {J Autism Dev Disord};2014 (Sep 14)
The relationship between autism spectrum disorders (ASD) and psychotic disorders (PD) is a focus of continued interest. There are substantial conceptual and clinical difficulties associated with diagnosing comorbid PD in individuals who have ASD. In this case series, we report on five cases where adolescents with previously diagnosed ASD were also diagnosed as psychotic. In each case, we found that these patients’ ‘psychotic’ symptoms could be better understood as a part of their underlying ASD diagnosis, with significant implications for treatment, prognosis, and access to services. This misdiagnosis likely represents a combination of adult psychiatrists being relatively inexperienced with this population, and the system of care requiring providers to apply diagnostic labels to justify inpatient hospitalization.
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10. Bradshaw J, Steiner AM, Gengoux G, Koegel LK. {{Feasibility and Effectiveness of Very Early Intervention for Infants At-Risk for Autism Spectrum Disorder: A Systematic Review}}. {J Autism Dev Disord};2014 (Sep 14)
Early detection methods for autism spectrum disorder (ASD) in infancy are rapidly advancing, yet the development of interventions for infants under two years with or at-risk for ASD remains limited. In order to guide research and practice, this paper systematically reviewed studies investigating interventions for infants under 24 months with or at-risk for ASD. Nine studies were identified and evaluated for: (a) participants, (b) intervention approach (c) experimental design, and (d) outcomes. Studies that collected parent measures reported positive findings for parent acceptability, satisfaction, and improvement in parent implementation of treatment. Infant gains in social-communicative and developmental skills were observed following intervention in most of the reviewed studies, while comparisons with treatment-as-usual control groups elucidate the need for further research. These studies highlight the feasibility of very early intervention and provide preliminary evidence that intervention for at-risk infants may be beneficial for infants and parents.
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11. Oginsky MF, Cui N, Zhong W, Johnson CM, Jiang C. {{Alterations in the cholinergic system of brain stem neurons in a mouse model of Rett syndrome}}. {Am J Physiol Cell Physiol};2014 (Sep 15);307(6):C508-520.
Rett syndrome is an autism-spectrum disorder resulting from mutations to the X-linked gene, methyl-CpG binding protein 2 (MeCP2), which causes abnormalities in many systems. It is possible that the body may develop certain compensatory mechanisms to alleviate the abnormalities. The norepinephrine system originating mainly in the locus coeruleus (LC) is defective in Rett syndrome and Mecp2-null mice. LC neurons are subject to modulation by GABA, glutamate, and acetylcholine (ACh), providing an ideal system to test the compensatory hypothesis. Here we show evidence for potential compensatory modulation of LC neurons by post- and presynaptic ACh inputs. We found that the postsynaptic currents of nicotinic ACh receptors (nAChR) were smaller in amplitude and longer in decay time in the Mecp2-null mice than in the wild type. Single-cell PCR analysis showed a decrease in the expression of alpha3-, alpha4-, alpha7-, and beta3-subunits and an increase in the alpha5- and alpha6-subunits in the mutant mice. The alpha5-subunit was present in many of the LC neurons with slow-decay nAChR currents. The nicotinic modulation of spontaneous GABAA-ergic inhibitory postsynaptic currents in LC neurons was enhanced in Mecp2-null mice. In contrast, the nAChR manipulation of glutamatergic input to LC neurons was unaffected in both groups of mice. Our current-clamp studies showed that the modulation of LC neurons by ACh input was reduced moderately in Mecp2-null mice, despite the major decrease in nAChR currents, suggesting possible compensatory processes may take place, thus reducing the defects to a lesser extent in LC neurons.
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12. Adihe Lokanga R, Zhao XN, Entezam A, Usdin K. {{X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion}}. {Hum Mol Genet};2014 (Sep 15);23(18):4985-4994.
The Fragile X-related disorders are X-linked disorders resulting from the inheritance of FMR1 alleles with >54 CGG/CCG repeats in their 5′ UTR. The repeats expand both somatically and on intergenerational transmission and increased repeat numbers are associated with increased risk of disease and increased risk of further expansion. The mechanism responsible for expansion is unknown. Here, we show in a knockin mouse model of these disorders that somatic expansion is much less common in females than in males. We show that this is due in large part to the fact that expansions occur only when the repeat is on the active X chromosome. However, even when this is taken into account, expansions in females are still less common than expected. This additional gender effect is not due to a protective effect of estrogen, a deleterious effect of testosterone or to differences in the expression of the Fmr1 gene or a variety of X-linked and autosomal DNA repair genes. However, our data do suggest that a higher level of expression of genes that protect against oxidative damage in females may contribute to their lower levels of expansion. Whatever the basis, our data suggest that the risk for somatic expansion may be lower in women than it is in men. This could help explain the reduced penetrance of some aspects of disease pathology in women. The fact that expansion only occurs when the Fmr1 allele is on the active X chromosome has important implications for the mechanism of repeat expansion.
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13. Ambrosini E, Sicca F, Brignone MS, D’Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. {{Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype}}. {Hum Mol Genet};2014 (Sep 15);23(18):4875-4886.
Short QT3 syndrome (SQT3S) is a cardiac disorder characterized by a high risk of mortality and associated with mutations in Kir2.1 (KCNJ2) channels. The molecular mechanisms leading to channel dysfunction, cardiac rhythm disturbances and neurodevelopmental disorders, potentially associated with SQT3S, remain incompletely understood. Here, we report on monozygotic twins displaying a short QT interval on electrocardiogram recordings and autism-epilepsy phenotype. Genetic screening identified a novel KCNJ2 variant in Kir2.1 that (i) enhanced the channel’s surface expression and stability at the plasma membrane, (ii) reduced protein ubiquitylation and degradation, (iii) altered protein compartmentalization in lipid rafts by targeting more channels to cholesterol-poor domains and (iv) reduced interactions with caveolin 2. Importantly, our study reveals novel physiological mechanisms concerning wild-type Kir2.1 channel processing by the cell, such as binding to both caveolin 1 and 2, protein degradation through the ubiquitin-proteasome pathway; in addition, it uncovers a potential multifunctional site that controls Kir2.1 surface expression, protein half-life and partitioning to lipid rafts. The reported mechanisms emerge as crucial also for proper astrocyte function, suggesting the need for a neuropsychiatric evaluation in patients with SQT3S and offering new opportunities for disease management.
