1. Bekhet AK. {{Self-Assessed Health in Caregivers of Persons With Autism Spectrum Disorder: Associations With Depressive Symptoms, Positive Cognitions, Resourcefulness, and Well-Being}}. {Perspect Psychiatr Care};2013 (Nov 11)
PURPOSE: Caregiving for children with autism spectrum disorder (ASD) can affect family caregivers’ self-assessed health. The purpose of this study was to determine whether depressive symptoms, positive cognitions, resourcefulness, and well-being will differ significantly among those who rated their health as fair, good, or excellent. DESIGN AND METHODS: This study is a secondary analysis of 109 ASD caregivers who were recruited from the Interactive ASD Network. FINDINGS: Depression was significantly lower among those who rated their health as excellent than among those who rated their health as fair. Positive cognitions, resourcefulness, and well-being were significantly higher among those who rated their health as excellent than among those who rated their health as fair. PRACTICE IMPLICATIONS: Interventions to enhance caregivers’ positive cognitions, resourcefulness, and well-being are recommended.
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2. Brezis RS, Galili T, Wong T, Piggot JI. {{Impaired Social Processing in Autism and its Reflections in Memory: A Deeper View of Encoding and Retrieval Processes}}. {J Autism Dev Disord};2013 (Nov 9)
Previous studies of memory in autism spectrum conditions (ASC) have consistently shown that persons with ASC have reduced memories for social information, relative to a spared memory for non-social facts. The current study aims to reproduce these findings, while examining the possible causes leading to this difference. Participants’ memory for trait-words was tested after they had viewed the words in three study contexts: visuo-motor, letter-detection, and social judgment. While participants with ASC showed a levels-of-processing effect, such that their memory for words viewed in the social judgment context was greater than their memory for words viewed in the letter-detection context, their memory for socially-processed words was reduced relative to comparison participants. This interaction effect could not be explained by a speed/accuracy trade-off, nor could it be explained solely by differences in encoding. These results suggest that social memory deficits in ASC arise from difficulties both in orienting towards and encoding social content, as well as retaining and retrieving it. Implications for theory and clinical practice are discussed.
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3. Carbonetto S. {{A Blueprint for Research on Shankopathies: A view from research on Autism Spectrum Disorder}}. {Dev Neurobiol};2013 (Nov 12)
Autism Spectrum Disorders (ASD) are associated with mutations in a host of genes including a number that function in synaptic transmission. Phelan McDermid Syndrome involves mutations in SHANK3 which encodes a protein that forms a scaffold for glutamate receptors at the synapse. SHANK3 is one of the genes underpins the synaptic hypothesis for ASD. We discuss this hypothesis with a view to the broader context of ASD and with special emphasis on highly penetrant genetic disorders including Shankopathies. We propose a blueprint for near and longer-term goals for fundamental and translational research on Shankopathies. (c) 2013 Wiley Periodicals, Inc. Develop Neurobiol, 2013.
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4. El Zein F, Solis M, Vaughn S, McCulley L. {{Reading Comprehension Interventions for Students with Autism Spectrum Disorders: A Synthesis of Research}}. {J Autism Dev Disord};2013 (Nov 12)
The authors synthesized reading intervention studies conducted between 1980 and 2012 with K-12 students identified with autism spectrum disorders (ASD). Nine single-subject design studies, one quasi-experimental study, and two single-group design studies met the criteria for inclusion. Findings from the studies indicate that modifying instructional interventions associated with improved comprehension for students with reading difficulties may improve reading comprehension in students with ASD. Four studies implemented strategy instruction that included (a) question generation; (b) graphic organizers; and (c) making predictions. Two studies utilized anaphoric cueing instruction, three implemented explicit instruction, and three examined student grouping practices. Among the reviewed studies, the majority (n = 9) measured reading comprehension through researcher-developed probes, and two studies reported results from standardized measures.
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5. Fine JG, Musielak KA, Semrud-Clikeman M. {{Smaller splenium in children with nonverbal learning disability compared to controls, high-functioning autism and ADHD}}. {Child Neuropsychol};2013 (Nov 12)
The current study investigated morphological differences in the corpus callosum in children ages 8 to 18 years old with nonverbal learning disability (NLD; n = 19), high-functioning autism (HFA; n = 23), predominantly inattentive ADHD (ADHD:PI; n = 23), and combined type ADHD (ADHD:C; n = 25), as well as those demonstrating typical development (n = 57). Midsagittal area of the corpus callosum and five midsagittal anterior-to-posterior corpus callosum segments were examined using magnetic resonance imaging. Controlling for midsagittal brain area and age, no group differences were found for total corpus callosum area. This finding indicates that higher functioning children on the autistic spectrum do not have smaller corpus callosi as has been found in previous research with heterogeneous samples. Following segmentation of the corpus callosum, the NLD group was observed to have significantly smaller splenia compared to all other groups. Smaller splenia in the NLD group was associated with lower WASI PIQ scores but not WASI VIQ scores. Children with HFA were observed to have larger midbody areas than children with NLD and neurotypically developing children. Children with HFA and NLD demonstrated behavioral symptoms of inattention and hyperactivity similar to the ADHD groups indicating that corpus callosum differences seen in the NLD and HFA groups are not related to these behaviors.
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6. Goldingay S, Stagnitti K, Sheppard L, McGillivray J, McLean B, Pepin G. {{An intervention to improve social participation for adolescents with autism spectrum disorder: Pilot study}}. {Dev Neurorehabil};2013 (Nov 8)
Abstract Objective: To increase flexible thinking, self-regulation and empathy for adolescents with ASD. Method: Five adolescents (M = 13.5 years; SD = 0.84 years; four males) were assessed pre and post intervention for flexible thinking and social competence (as measured by the SSIS). Parents rated their adolescent’s social competence pre and post intervention. Results: A large decrease was found in parent rating of their child’s level of hyperactivity (12.8, SD = 2.3; 11, SD = 2.2) (p = 0.034) (Cohen’s d = 0.95). Parents increased their rating of their child’s cooperation and empathy (Cohen’s d = 0.71 and 0.56, respectively). A medium effect for flexible thinking was observed in three items (Cohen’s d = 0.5 to 0.62) and a large effect for one item (Cohen’s d = 1.35). Adolescents decreased self-scoring on the social scale post intervention. Conclusion: Improvements were observed in adolescents’ flexible thinking and social insights, and parent’s perception of their child’s self-regulation.
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7. Houghton K, Schuchard J, Lewis C, Thompson CK. {{Promoting child-initiated social-communication in children with autism: Son-Rise Program intervention effects}}. {J Commun Disord};2013 (Oct 10)
This study examined the effects of the Son-Rise Program (SRP), an intensive treatment aimed to improve child-initiated social communication in children with autism. Six children between the ages of 47 and 78 months were provided with 40h of SRP, with pre- to post-treatment behavioral changes tested using a novel passive interaction probe task. Results showed an increase in the frequency of spontaneous social orienting and gestural communication for the experimental children, compared to six age- and behaviorally-matched control children with autism. In addition, for the children who received treatment, the duration of social dyadic interactions and total time spent engaged in social interaction increased from pre- to post-treatment. These findings suggest that intensive intervention focused on fostering child-initiated interaction increases social-communicative behaviors in children with autism. Learning outcomes: Readers will be able to describe the principles underlying the Son-Rise Program, a developmental approach to treatment for autism. Readers will be able to explain the methods of the investigation of a 5-day intensive Son-Rise Program and the results that report change in social communication in children with autism.
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8. Jutley-Neilson J, Harris G, Kirk J. {{The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism}}. {Res Dev Disabil};2013 (Oct 24)
This study aimed to highlight the occurrence of autism spectrum disorders (ASDs) in children with septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH). A cross-sectional study was designed, including 28 children with SOD and 14 children with ONH. Clinician diagnosis of ASD was reported in 14 children. The Social Communication Questionnaire (SCQ) reported that 23 children met the cut-off point for ASD, and 9 children met the cut-off point for autism. Greater levels of intellectual disability and visual loss were reported in children with ASD in comparison to those without ASD, but, of the two, intellectual disability was a better predictor for ASD. The SCQ lost its sensitivity and specificity in children who had greater visual loss which highlights a requirement for a measure that is sensitive to visual loss. It is also recommended that children with SOD/ONH would benefit from routine screening for ASDs.
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9. Kaluzna-Czaplinska J, Zurawicz E, Jozwik J. {{Chromatographic techniques coupled with mass spectrometry for the determination of organic acids in the study of autism}}. {J Chromatogr B Analyt Technol Biomed Life Sci};2013 (Oct 22)
Chromatographic methods find application in the diagnostics and prognosis of diseases. They are used in finding new biomarkers, which may result in early medical intervention. Early diagnosis and intervention are especially important in the case of diseases of unknown etiology. One of these is autism. Autism is a neurodevelopmental disorder characterized by severe impairment in reciprocal social interaction and communication and a pattern of repetitive or stereotyped behavior. Organic acids are intermediate metabolites of all major groups of organic cellular components and can play a role in the pathogenesis of autism. This review presents information about abnormal levels of some organic acids observed in the urine of children with autism and determination of acids with the use of chromatographic techniques. 342 literature sources on frequency (2005-2012) of the use of chromatographic methods in the determination of organic compounds in various body fluids were searched.
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10. Kao FC, Su SH, Carlson GC, Liao W. {{MeCP2-mediated alterations of striatal features accompany psychomotor deficits in a mouse model of Rett syndrome}}. {Brain Struct Funct};2013 (Nov 12)
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Affected individuals develop motor deficits including stereotypic hand movements, impaired motor learning and difficulties with movement. To understand the neural mechanisms of motor deficits in RTT, we characterized the molecular and cellular phenotypes in the striatum, the major input nucleus of the basal ganglia that controls psychomotor function, in mice carrying a null allele of Mecp2. These mice showed significant hypoactivity associated with impaired motor coordination and motor skill learning. We found that dopamine content was significantly reduced in the striatum of Mecp2 null mice. Reduced dopamine was accompanied by down-regulation of tyrosine hydroxylase and up-regulation of dopamine D2 receptors, particularly in the rostral striatum. We also observed that loss of MeCP2 induced compartment-specific alterations in the striatum, including reduced expression of mu-opioid receptors in the striosomes and increased number of calbindin-positive neurons in the striatal matrix. The total number of parvalbumin-positive interneurons and their dendritic arborization were also significantly increased in the striatum of Mecp2 null mice. Together, our findings support that MeCP2 regulates a unique set of genes critical for modulating motor output of the striatum, and that aberrant structure and function of the striatum due to MeCP2 deficiency may underlie the motor deficits in RTT.
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11. Keown CL, Shih P, Nair A, Peterson N, Mulvey ME, Muller RA. {{Local Functional Overconnectivity in Posterior Brain Regions Is Associated with Symptom Severity in Autism Spectrum Disorders}}. {Cell Rep};2013 (Nov 5)
Although growing evidence indicates atypical long-distance connectivity in autism spectrum disorder (ASD), much less is known about local connectivity, despite conjectures that local overconnectivity may be causally involved in the disorder. Using functional connectivity MRI and graph theory, we found that local functional connectivity was atypically increased in adolescents with ASD in temporo-occipital regions bilaterally. Posterior overconnectivity was found to be associated with higher ASD symptom severity, whereas an ASD subsample with low severity showed frontal underconnectivity. The findings suggest links between symptomatology and local connectivity, which vary within the autism spectrum.
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12. Klintwall L, Eldevik S, Eikeseth S. {{Narrowing the gap: Effects of intervention on developmental trajectories in autism}}. {Autism};2013 (Nov 8)
Although still a matter of some debate, there is a growing body of research supporting Early and Intensive Behavioral Intervention as the intervention of choice for children with autism. Learning rate is an alternative to change in standard scores as an outcome measure in studies of early intervention. Learning rates can be displayed graphically as developmental trajectories, which are easy to understand and avoid some of the counter-intuitive properties of changes in standard scores. The data used in this analysis were from 453 children with autism, previously described by Eldevik et al. Children receiving Early and Intensive Behavioral Intervention exhibited significantly steeper developmental trajectories than children in the control group, in both intelligence and adaptive behaviors. However, there was a considerable variability in individual learning rates within the group receiving Early and Intensive Behavioral Intervention. This variability could partly be explained by the intensity of the treatment, partly by children’s intake intelligence quotient age-equivalents. Age at intake did not co-vary with learning rate.
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13. Lai JK, Sobala-Drozdowski M, Zhou L, Doering LC, Faure PA, Foster JA. {{Temporal and Spectral Differences in the Ultrasonic Vocalizations of Fragile X Knock Out Mice During Postnatal Development}}. {Behav Brain Res};2013 (Nov 6)
The fmr1 knock out (KO) mouse has been a useful animal model to understand pathology and treatment of FXS, both anatomically and behaviourally. Ultrasonic vocalizations (USVs) are a behavioural tool to assess early life communication deficits in mice. Here, we report on the temporal and spectral features of USVs emitted after maternal separation in wild type (FVB/N) and fmr1 KO pups at postnatal days (P) P4, P7 and P10. The results show changes in the number and duration of calls in fmr1 KO pups and wild type pups were dependent on age and call type. Fmr1 KO pups showed an increased number of USVs at P7 but not at P4 or P10. This increase was specific to Frequency Jump calls. In addition, fmr1 KO mice showed a developmental shift in the temporal distribution of calls, with P10 mice calling in distinct bout patterns. Overall, these findings provide evidence that changes in USV outcomes were specific to certain call types and ages in fmr1 KO mice. Because early postnatal life is a window during which multiple neural systems activate and become established, behavioural measures such as using USVs as a measure of communication, may be useful as a predictor of brain changes and later developmental behavioural changes. Work is needed to better understand the functional outcomes of altered development of USVs and how these changes contribute to later emergence of autistic-like behaviours in animal models of autism.
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14. Miller L, McGonigle-Chalmers M. {{Erratum to: Exploring Perceptual Skills in Children with Autism Spectrum Disorders: From Target Detection to Dynamic Perceptual Discrimination}}. {J Autism Dev Disord};2013 (Nov 10)
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15. Mouridsen SE, Rich B, Isager T. {{The Sex Ratio of Full and Half Siblings of People Diagnosed with an Autism Spectrum Disorder: A Danish Nationwide Register Study}}. {Child Psychiatry Hum Dev};2013 (Nov 9)
In the extreme male brain theory of autism sex steroid hormones are hypothesized to influence brain development and to mediate sex differences in developmental psychopathology. Within this scope we examined the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASD). We did a nationwide, register based cohort study of the sex ratio in 17,380 siblings of the 10,297 patients diagnosed with ASD at age 17 years and younger and registered in the nationwide Danish Psychiatric Central Register between 1994 and 2012. Among the 17,380 siblings 8,828 were males and 8,552 females. This yields a sex ratio of 0.508, which is not different from the Danish live birth sex ratio of 0.513 during the relevant years (P = 0.18). Overall, our findings provide no support for the hypothesis that there are relatively more males among the siblings of people with ASD. Accordingly, our results do not give support to the extreme male brain theory of autism.
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16. Moy SS, Riddick NV, Nikolova VD, Teng BL, Agster KL, Nonneman RJ, Young NB, Baker LK, Nadler JJ, Bodfish JW. {{Repetitive behavior profile and supersensitivity to amphetamine in the C58/J mouse model of autism}}. {Behav Brain Res};2013 (Nov 7)
Restricted repetitive behaviors are core symptoms of autism spectrum disorders (ASDs). The range of symptoms encompassed by the repetitive behavior domain includes lower-order stereotypy and self-injury, and higher-order indices of circumscribed interests and cognitive rigidity. Heterogeneity in clinical ASD profiles suggests that specific manifestations of repetitive behavior reflect differential neuropathology. The present studies utilized a set of phenotyping tasks to determine a repetitive behavior profile for the C58/J mouse strain, a model of ASD core symptoms. In an observational screen, C58/J demonstrated overt motor stereotypy, but not over-grooming, a commonly-used measure for mouse repetitive behavior. Amphetamine did not exacerbate motor stereotypy, but had enhanced stimulant effects on locomotion and rearing in C58/J, compared to C57BL/6J. Both C58/J and Grin1 knockdown mice, another model of ASD-like behavior, had marked deficits in marble-burying. In a nose poke task for higher-order repetitive behavior, C58/J had reduced holeboard exploration and preference for non-social, versus social, olfactory stimuli, but did not demonstrate cognitive rigidity following familiarization to an appetitive stimulus. Analysis of available high-density genotype data indicated specific regions of divergence between C58/J and two highly-sociable strains with common genetic lineage. Strain genome comparisons identified autism candidate genes, including Cntnap2 and Slc6a4, located within regions divergent in C58/J. However, Grin1, Nlgn1, Sapap3, and Slitrk5, genes linked to repetitive over-grooming, were not in regions of divergence. These studies suggest that specific repetitive phenotypes can be used to distinguish ASD mouse models, with implications for divergent underlying mechanisms for different repetitive behavior profiles.
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17. Nikolac Perkovic M, Nedic Erjavec G, Stefulj J, Muck-Seler D, Pivac N, Kocijan Hercigonja D, Hranilovic D, Curkovic M, Dodig-Curkovic K. {{Association between the polymorphisms of the selected genes encoding dopaminergic system with ADHD and autism}}. {Psychiatry Res};2013 (Oct 24)
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18. Potvin MC, Snider L, Prelock PA, Wood-Dauphinee S, Kehayia E. {{Health-related quality of life in children with high-functioning autism}}. {Autism};2013 (Nov 8)
The health-related quality of life of school-aged children with high-functioning autism is poorly understood. The objectives of this study were to compare the health-related quality of life of children with high-functioning autism to that of typically developing peers and to compare child-self and parent-proxy reports of health-related quality of life of children. A cross-sectional study of children with high-functioning autism (n = 30) and peers (n = 31) was conducted using the Pediatric Quality of Life Inventory 4.0 Generic Core Scales. Children with high-functioning autism had significantly poorer health-related quality of life than peers whether reported by themselves (p < .001) or their parents (p < .001), although disagreement (intra-class coefficient = -.075) between children and parental scores suggested variance in points of view. This study specifically investigated health-related quality of life in children with high-functioning autism as compared to a sample of peers, from the child’s perspective. It strengthens earlier findings that children with high-functioning autism experience poorer health-related quality of life than those without this disorder and points to the importance of clinicians working with families to identify areas in a child’s life that promote or hinder their sense of well-being.
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19. Rada RE. {{Dental erosion due to GERD in patients with developmental disabilities: case theory}}. {Spec Care Dentist};2013 (Nov 12)
Gastroesophageal reflux disease (GERD) is a common finding among individuals in our society. Unfortunately, the condition is even more prevalent in individuals with developmental disabilities. There are significant comorbidities that can affect the upper gastrointestinal tract. Erosion of tooth surfaces may be the first comorbidity that is detected in individuals unable to express physical discomfort associated with GERD. The dentist should be aware of these findings and able to refer the patient for medical management. In addition, an awareness of preventive regimens and restorative options is essential in maintaining a healthy dentition for these individuals.
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20. Schaaf RC, Benevides T, Mailloux Z, Faller P, Hunt J, van Hooydonk E, Freeman R, Leiby B, Sendecki J, Kelly D. {{An Intervention for Sensory Difficulties in Children with Autism: A Randomized Trial}}. {J Autism Dev Disord};2013 (Nov 10)
This study evaluated a manualized intervention for sensory difficulties for children with autism, ages 4-8 years, using a randomized trial design. Diagnosis of autism was confirmed using gold standard measures. Results show that the children in the treatment group (n = 17) who received 30 sessions of the occupational therapy intervention scored significantly higher (p = 0.003, d = 1.2) on Goal Attainment Scales (primary outcome), and also scored significantly better on measures of caregiver assistance in self-care (p = 0.008 d = 0.9) and socialization (p = 0.04, d = 0.7) than the Usual Care control group (n = 15). The study shows high rigor in its measurement of treatment fidelity and use of a manualized protocol, and provides support for the use of this intervention for children with autism. Findings are discussed in terms of their implications for practice and future research.
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21. Solomon M, Yoon JH, Ragland JD, Niendam TA, Lesh TA, Fairbrother W, Carter CS. {{The Development of the Neural Substrates of Cognitive Control in Adolescents with Autism Spectrum Disorders}}. {Biol Psychiatry};2013 (Oct 24)
BACKGROUND: Autism spectrum disorders (ASDs) involve impairments in cognitive control. In typical development (TYP), neural systems underlying cognitive control undergo substantial maturation during adolescence. Development is delayed in adolescents with ASD. Little is known about the neural substrates of this delay. METHODS: We used event-related functional magnetic resonance imaging and a cognitive control task involving overcoming a prepotent response tendency to examine the development of cognitive control in young (ages 12-15; n = 13 with ASD and n = 13 with TYP) and older (ages 16-18; n = 14 with ASD and n = 14 with TYP) adolescents with whole-brain voxelwise univariate and task-related functional connectivity analyses. RESULTS: Older ASD and TYP showed reduced activation in sensory and premotor areas relative to younger ones. The older ASD group showed reduced left parietal activation relative to TYP. Functional connectivity analyses showed a significant age by group interaction with the older ASD group exhibiting increased functional connectivity strength between the ventrolateral prefrontal cortex and the anterior cingulate cortex, bilaterally. This functional connectivity strength was related to task performance in ASD, whereas that between dorsolateral prefrontal cortex and parietal cortex (Brodmann areas 9 and 40) was related to task performance in TYP. CONCLUSIONS: Adolescents with ASD rely more on reactive cognitive control, involving last-minute conflict detection and control implementation by the anterior cingulate cortex and ventrolateral prefrontal cortex, versus proactive cognitive control requiring processing by dorsolateral prefrontal cortex and parietal cortex. Findings await replication in larger longitudinal studies that examine their functional consequences and amenability to intervention.
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22. Steinberg J, Webber C. {{The Roles of FMRP-Regulated Genes in Autism Spectrum Disorder: Single- and Multiple-Hit Genetic Etiologies}}. {Am J Hum Genet};2013 (Nov 7);93(5):825-839.
Autism spectrum disorder (ASD) is a highly heritable complex neurodevelopmental condition characterized by impairments in social interaction and communication and restricted and repetitive behaviors. Although roles for both de novo and familial genetic variation have been documented, the underlying disease mechanisms remain poorly elucidated. In this study, we defined and explored distinct etiologies of genetic variants that affect genes regulated by Fragile-X mental retardation protein (FMRP), thought to play a key role in neuroplasticity and neuronal translation, in ASD-affected individuals. In particular, we developed the Trend test, a pathway-association test that is able to robustly detect multiple-hit etiologies and is more powerful than existing approaches. Exploiting detailed spatiotemporal maps of gene expression within the human brain, we identified four discrete FMRP-target subpopulations that exhibit distinct functional biases and contribute to ASD via different types of genetic variation. We also demonstrated that FMRP target genes are more likely than other genes with similar expression patterns to contribute to disease. We developed the hypothesis that FMRP targets contribute to ASD via two distinct etiologies: (1) ultra-rare and highly penetrant single disruptions of embryonically upregulated FMRP targets (« single-hit etiology ») or (2) the combination of multiple less penetrant disruptions of nonembryonic, synaptic FMRP targets (« multiple-hit etiology »). The Trend test provides rigorous support for a multiple-hit genetic etiology in a subset of autism cases and is easily extendible to combining information from multiple types of genetic variation (i.e., copy-number and exome variants), increasing its value to next-generation sequencing approaches.
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23. Stevenson RA, Siemann JK, Woynaroski TG, Schneider BC, Eberly HE, Camarata SM, Wallace MT. {{Brief Report: Arrested Development of Audiovisual Speech Perception in Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Nov 12)
Atypical communicative abilities are a core marker of Autism Spectrum Disorders (ASD). A number of studies have shown that, in addition to auditory comprehension differences, individuals with autism frequently show atypical responses to audiovisual speech, suggesting a multisensory contribution to these communicative differences from their typically developing peers. To shed light on possible differences in the maturation of audiovisual speech integration, we tested younger (ages 6-12) and older (ages 13-18) children with and without ASD on a task indexing such multisensory integration. To do this, we used the McGurk effect, in which the pairing of incongruent auditory and visual speech tokens typically results in the perception of a fused percept distinct from the auditory and visual signals, indicative of active integration of the two channels conveying speech information. Whereas little difference was seen in audiovisual speech processing (i.e., reports of McGurk fusion) between the younger ASD and TD groups, there was a significant difference at the older ages. While TD controls exhibited an increased rate of fusion (i.e., integration) with age, children with ASD failed to show this increase. These data suggest arrested development of audiovisual speech integration in ASD. The results are discussed in light of the extant literature and necessary next steps in research.
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24. Supekar K, Uddin LQ, Khouzam A, Phillips J, Gaillard WD, Kenworthy LE, Yerys BE, Vaidya CJ, Menon V. {{Brain Hyperconnectivity in Children with Autism and its Links to Social Deficits}}. {Cell Rep};2013 (Nov 5)
Autism spectrum disorder (ASD), a neurodevelopmental disorder affecting nearly 1 in 88 children, is thought to result from aberrant brain connectivity. Remarkably, there have been no systematic attempts to characterize whole-brain connectivity in children with ASD. Here, we use neuroimaging to show that there are more instances of greater functional connectivity in the brains of children with ASD in comparison to those of typically developing children. Hyperconnectivity in ASD was observed at the whole-brain and subsystems levels, across long- and short-range connections, and was associated with higher levels of fluctuations in regional brain signals. Brain hyperconnectivity predicted symptom severity in ASD, such that children with greater functional connectivity exhibited more severe social deficits. We replicated these findings in two additional independent cohorts, demonstrating again that at earlier ages, the brain of children with ASD is largely functionally hyperconnected in ways that contribute to social dysfunction. Our findings provide unique insights into brain mechanisms underlying childhood autism.
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25. Verhoeff B. {{The autism puzzle: challenging a mechanistic model on conceptual and historical grounds}}. {Philos Ethics Humanit Med};2013 (Nov 8);8(1):17.
Although clinicians and researchers working in the field of autism are generally not concerned with philosophical categories of kinds, a model for understanding the nature of autism is important for guiding research and clinical practice. Contemporary research in the field of autism is guided by the depiction of autism as a scientific object that can be identified with systematic neuroscientific investigation. This image of autism is compatible with a permissive account of natural kinds: the mechanistic property cluster (MPC) account of natural kinds, recently proposed as the model for understanding psychiatric disorders. Despite the heterogeneity, multicausality and fuzzy boundaries that complicate autism research, a permissive account of natural kinds (MPC kinds) provides prescriptive guidance for the investigation of objective causal mechanisms that should inform nosologists in their attempt to carve autism’s boundaries at its natural joints. However, this essay will argue that a mechanistic model of autism is limited since it disregards the way in which autism relates to ideas about what kind of behavior is abnormal. As historical studies and definitions of autism show, normative issues concerning disability, impairment and societal needs have been and still are inextricably linked to how we recognize and understand autism. The current search for autism’s unity in neurobiological mechanisms ignores the values, social norms and various perspectives on mental pathology that play a significant role in ‘the thing called autism’. Autism research needs to engage with these issues in order to achieve more success in the effort to become clinically valuable.
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26. Wei H, Alberts I, Li X. {{Brain IL-6 and autism}}. {Neuroscience};2013 (Nov 12);252:320-325.
Autism is a severe neurodevelopmental disorder characterized by impairments in social interaction, deficits in verbal and non-verbal communication, and repetitive behavior and restricted interests. Emerging evidence suggests that aberrant neuroimmune responses may contribute to phenotypic deficits and could be appropriate targets for pharmacologic intervention. Interleukin (IL)-6, one of the most important neuroimmune factors, has been shown to be involved in physiological brain development and in several neurological disorders. For instance, findings from postmortem and animal studies suggest that brain IL-6 is an important mediator of autism-like behaviors. In this review, a possible pathological mechanism behind autism is proposed, which suggests that IL-6 elevation in the brain, caused by the activated glia and/or maternal immune activation, could be an important inflammatory cytokine response involved in the mediation of autism-like behaviors through impairments of neuroanatomical structures and neuronal plasticity. Further studies to investigate whether IL-6 could be used for therapeutic interventions in autism would be of great significance.
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27. Yamauchi Y, Miyao M, Okuyama M, Ida H. {{[Clinical features of girls with Asperger disorders]}}. {No To Hattatsu};2013 (Sep);45(5):366-370.
OBJECTIVES: Symptoms of Asperger disorder (AD) in girls are often different from those in boys. In this study, the characteristics of girls with AD were examined. METHODS: We retrospectively examined the records of 63 boys and 33 girls with AD. We evaluated the age, main problems, complications, and the Wechsler Intelligence Scale for Children (3rd Ed) scores. RESULTS: About 73% of girls were diagnosed with AD between 10 and 15 years of age, and they had physical complications or problems in the autonomic nervous system. Girls scored significantly lower in Mathematics score, and Block Design score than boys. CONCLUSIONS: The results suggest that there are differences in the AD symptoms exhibited by boys and girls. Further research is required to clarify the behavioral, neurological, and genetic links to these gender differences. In order to prevent secondary complications, it is necessary to establish specific diagnostic criteria for girls with AD.
