1. Basu S, Parry P. {{The autism spectrum disorder ‘epidemic’: Need for biopsychosocial formulation}}. {Aust N Z J Psychiatry}. 2013.
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2. Kaat AJ, Lecavalier L, Aman MG. {{Validity of the Aberrant Behavior Checklist in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2013.
The Aberrant Behavior Checklist (ABC) is a widely used measure in autism spectrum disorder (ASD) treatment studies. We conducted confirmatory and exploratory factor analyses of the ABC in 1,893 children evaluated as part of the Autism Treatment Network. The root mean square error of approximation was .086 for the standard item assignment, and in exploratory factor analysis, the large majority of items continued to load on the originally assigned factors. Correlations between the ABC subscales and multiple external variables including the Child Behavior Checklist and demographic variables supported the convergent and divergent validity of the ABC as a measure of behavior problems in ASD. Finally, we examined the impact of participant characteristics on subscale scores and present normative data.
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3. Koegel R, Fredeen R, Kim S, Danial J, Rubinstein D, Koegel L. {{Using Perseverative Interests to Improve Interactions Between Adolescents with Autism and their Typical Peers in School Settings}}. {J Posit Behav Interv}. 2012; 14(3): 133-41.
The literature suggests that adolescents with ASD typically are not socially engaged during unstructured school activities and do not initiate social activities with typically developing peers. This study assessed whether implementing socialization opportunities in the form of lunch clubs based around aspects of the adolescents with ASD’s perseverative interests would promote positive direct and generalized social interaction between the target adolescent and their typically developing peers. A repeated measures multiple baseline experimental design (with two reversals) was implemented across participants. During baseline measures, the participants did not show social engagement or initiations. During intervention, results showed large increases in both social engagement and initiations. Generalization measures also showed that the target adolescents improved their social engagements and initiations with typically developing peers throughout unstructured lunchtime activities. These results have implications for understanding variables related to social development in autism.
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4. Kuzniewicz MW, Wi S, Qian Y, Walsh EM, Armstrong MA, Croen LA. {{Prevalence and Neonatal Factors Associated with Autism Spectrum Disorders in Preterm Infants}}. {J Pediatr}. 2013.
OBJECTIVES: To determine the prevalence of autism spectrum disorders (ASD) across gestational age, examine the risk of ASD by gestational age controlling for other risk factors, and identify potential risk factors in the neonatal intensive care unit. STUDY DESIGN: A retrospective cohort of infants born at >/=24 weeks between January 1, 2000, and December 31, 2007 at 11 Kaiser Permanente Northern California hospitals (n = 195 021). ASD cases were defined by a diagnosis made at a Kaiser Permanente ASD evaluation center, by a clinical specialist, or by a pediatrician. Cox proportional hazards regression models were used to evaluate the association between gestational age and ASD as well as potential risk factors in the neonatal intensive care unit and ASD. RESULTS: The prevalence of ASD in infants <37 weeks was 1.78% compared with 1.22% in infants born >/=37 weeks (P < .001). Compared with term infants, infants born at 24-26 weeks had an adjusted hazard ratio (HR) for a diagnosis of ASD of 2.7 (95% CI 1.5-5.0). Infants born at 27-33 weeks (adjusted HR 1.4, 95% CI 1.1-1.8) and 34-36 weeks (adjusted HR 1.3, 95% CI 1.1-1.4) were also at increased risk. High frequency ventilation and intracranial hemorrhage were associated with ASD in infants < 34 weeks. CONCLUSIONS: ASD was approximately 3 times more prevalent in infants <27 weeks compared with term infants. Each week of shorter gestation was associated with an increased risk of ASD. High frequency ventilation and intracranial hemorrhage were associated with ASD among infants <34 weeks.
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5. McCray AT, Trevvett P, Frost HR. {{Modeling the Autism Spectrum Disorder Phenotype}}. {Neuroinformatics}. 2013.
Autism Spectrum Disorder (ASD) is highly heritable, and although there has been active research in an attempt to discover the genetic factors underlying ASD, diagnosis still depends heavily on behavioral assessments. Recently, several large-scale initiatives, including those of the Autism Consortium, have contributed to the collection of extensive information from families affected by ASD. Our goal was to develop an ontology that can be used 1) to provide improved access to the data collected by those who study ASD and other neurodevelopmental disorders, and 2) to assess and compare the characteristics of the instruments that are used in the assessment of ASD. We analyzed two dozen instruments used to assess ASD, studying the nature of the questions asked and items assessed, the method of delivery, and the overall scope of the content. These data together with the extensive literature on ASD contributed to our iterative development of an ASD phenotype ontology. The final ontology comprises 283 concepts distributed across three high-level classes, ‘Personal Traits’, ‘Social Competence’, and ‘Medical History’. The ontology is fully integrated with the Autism Consortium database, allowing researchers to pose ontology-based questions. The ontology also allows researchers to assess the degree of overlap among a set of candidate instruments according to several objective criteria. The ASD phenotype ontology has promise for use in research settings where extensive phenotypic data have been collected, allowing a concept-based approach to identifying behavioral features of importance and for correlating these with genotypic data.
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6. Moeller S, Lau NM, Green PH, Hellberg D, Higgins JJ, Rajadhyaksha AM, Alaedini A. {{Lack of association between autism and anti-GM1 ganglioside antibody}}. {Neurology}. 2013; 81(18): 1640-1.
Forty of 54 children with autism were reported to have an elevated antibody response to GM1 ganglioside that correlated with disease severity.(1) Antiganglioside autoantibodies, especially those directed at GM1, are known to be associated with and play a pathogenic role in some immune-mediated peripheral neuropathies.(2,3) The presumed link between autism and anti-GM1 antibodies, therefore, implies that testing may identify a sizable subset of patients who would benefit from immunomodulatory therapy. To evaluate the proposed association between autism and anti-GM1 antibodies, serum samples from children diagnosed with autism by strict clinical criteria and those without autism were analyzed using a standard, validated immunoassay protocol.
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7. O’Reilly H, Thiebaut FI, White SJ. {{Is macrocephaly a neural marker of a local bias in autism?}}. {Dev Cogn Neurosci}. 2013; 6C: 149-54.
Previous research has suggested that the local processing bias often reported in studies of Autism Spectrum Condition may only be typical of a subgroup of individuals with autism also presenting with macrocephaly. The current study examined a group of children with autism, with and without macrocephaly, on the Children’s Embedded Figures Test (CEFT), a well-established measure of local processing bias. The results demonstrated that the children with autism and macrocephaly performed significantly better on the CEFT than children with autism without macrocephaly, indicative of a local bias. These results lend support to the proposal that both macrocephaly in autism and a local processing bias may arise from the same underlying neural processes and these characteristics represent an endophenotype in a subgroup of individuals with ASC worthy of further investigation.
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8. Pisano S, Milone A, Gemo I, Masi G. {{High-functioning autism spectrum disorder associated with CHARGE syndrome: a case report}}. {Clin Dysmorphol}. 2013.
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9. Puzzo I, Cooper NR, Cantarella S, Fitzgerald PB, Russo R. {{The effect of rTMS over the inferior parietal lobule on EEG sensorimotor reactivity differs according to self-reported traits of autism in typically developing individuals}}. {Brain Res}. 2013.
Previous research suggested that EEG markers of mirror neuron system activation may differ, in the normal population as a function of different levels of the autistic spectrum quotient; (AQ). The present study aimed at modulating the EEG sensorimotor reactivity induced by hand movement observation by means of repetitive transcranial magnetic stimulation (rTMS) applied to the inferior parietal lobule. We examined how the resulting rTMS modulation differed in relation to the self-reported autistic traits in the typically developing population. Results showed that during sham stimulation, all participants had significantly greater sensorimotor alpha reactivity (motor cortex – C electrodes) when observing hand movements compared to static hands. This sensorimotor alpha reactivity difference was reduced during active rTMS stimulation. Results also revealed that in the average AQ group at sham there was a significant increase in low beta during hand movement than static hand observation (pre-motor areas – FC electrodes) and that (like alpha over the C electrodes) this difference is abolished when active rTMS is delivered. Participants with high AQ scores showed no significant difference in low beta sensorimotor reactivity between active and sham rTMS during static hand or hand movement observation. These findings suggest that unlike sham, active rTMS over the IPL modulates the oscillatory activity of the low beta frequency of a distal area, namely the anterior sector of the sensorimotor cortex, when participants observe videos of static hand. Importantly, this modulation differs according to the degree of self-reported traits of autism in a typically developing population.
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10. Rudolph U, Mohler H. {{GABA Receptor Subtypes: Therapeutic Potential in Down Syndrome, Affective Disorders, Schizophrenia, and Autism}}. {Annu Rev Pharmacol Toxicol}. 2013.
The gamma-aminobutyric acid (GABA) system plays a pivotal role in orchestrating the synchronicity of local networks and the functional coupling of different brain regions. Here we review the impact of the GABAA receptor subtypes on cognitive and emotional behavior, paying particular attention to five disease states: cognitive dysfunction and Down syndrome, anxiety disorders, depression, schizophrenia, and autism. Through the bidirectional modulation of tonic inhibition, alpha5-subunit-containing GABAA receptors permit the bidirectional modulation of cognitive processes, and a partial inverse agonist acting at the alpha5-subunit-containing GABAA receptor is in a clinical trial in individuals with Down syndrome. With regard to anxiety disorders, the viability of nonsedative anxiolytics based on the modulation of alpha2- and alpha3-subunit-containing GABAA receptors has been established in clinical proof-of-concept trials. Regarding the remaining three disease states, the GABA hypothesis of depression offers new options for antidepressant drug development, cognitive symptoms in schizophrenia are attributed to a cortical GABAergic deficit, and dysfunctional GABAergic inhibition is increasingly understood to contribute to the pathophysiology of autism spectrum disorders. Expected final online publication date for the Annual Review of Pharmacology and Toxicology Volume 54 is January 06, 2014. Please see http://www.annualreviews.org/catalog/pubdates.aspx for revised estimates.
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11. Tuchman R, Hirtz D, Mamounas LA. {{NINDS epilepsy and autism spectrum disorders workshop report}}. {Neurology}. 2013; 81(18): 1630-6.
The association of epilepsy and autism spectrum disorders (ASD), although well-recognized, is poorly understood. The purpose of this report is to summarize the discussion of a workshop sponsored by the National Institute of Neurological Disorders and Stroke, with support from the National Institute of Child Health and Human Development, Autism Speaks, and Citizens United for Research in Epilepsy, that took place in Bethesda, Maryland, on May 29 and 30, 2012. The goals of this workshop were to highlight the clinical and biological relationships between ASD and epilepsy, to determine both short- and long-term goals that address research and treatment conundrums in individuals with both ASD and epilepsy, and to identify resources that can further both clinical and basic research. Topics discussed included epidemiology, genetics, environmental factors, common mechanisms, neuroimaging, neuropathology, neurophysiology, treatment, and research gaps and challenges in this unique population.
