1. Azmitia EC, Saccomano ZT, Alzoobaee MF, Boldrini M, Whitaker-Azmitia PM. {{Persistent Angiogenesis in the Autism Brain: An Immunocytochemical Study of Postmortem Cortex, Brainstem and Cerebellum}}. {J Autism Dev Disord};2015 (Dec 14)
In the current work, we conducted an immunocytochemical search for markers of ongoing neurogenesis (e.g. nestin) in auditory cortex from postmortem sections of autism spectrum disorder (ASD) and age-matched control donors. We found nestin labeling in cells of the vascular system, indicating blood vessels plasticity. Evidence of angiogenesis was seen throughout superior temporal cortex (primary auditory cortex), fusiform cortex (face recognition center), pons/midbrain and cerebellum in postmortem brains from ASD patients but not control brains. We found significant increases in both nestin and CD34, which are markers of angiogenesis localized to pericyte cells and endothelial cells, respectively. This labeling profile is indicative of splitting (intussusceptive), rather than sprouting, angiogenesis indicating the blood vessels are in constant flux rather than continually expanding.
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2. Bennett M. {{The Importance of Interviewing Adults on the Autism Spectrum About Their Depression and Suicidal Ideation Experiences}}. {J Autism Dev Disord};2015 (Dec 14)
This letter will summarise the current body of literature on adults with Asperger syndrome and their depression and suicidal ideation experiences. The purpose of this summary is to highlight the lack of published research on adults with Asperger syndrome or autism describing these experiences.
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3. Boukhris T, Sheehy O, Mottron L, Berard A. {{Antidepressant Use During Pregnancy and the Risk of Autism Spectrum Disorder in Children}}. {JAMA Pediatr};2015 (Dec 14):1-8.
Importance: The association between the use of antidepressants during gestation and the risk of autism spectrum disorder (ASD) in children is still controversial. The etiology of ASD remains unclear, although studies have implicated genetic predispositions, environmental risk factors, and maternal depression. Objective: To examine the risk of ASD in children associated with antidepressant use during pregnancy according to trimester of exposure and taking into account maternal depression. Design, Setting, and Participants: We conducted a register-based study of an ongoing population-based cohort, the Quebec Pregnancy/Children Cohort, which includes data on all pregnancies and children in Quebec from January 1, 1998, to December 31, 2009. A total of 145456 singleton full-term infants born alive and whose mothers were covered by the Regie de l’assurance maladie du Quebec drug plan for at least 12 months before and during pregnancy were included. Data analysis was conducted from October 1, 2014, to June 30, 2015. Exposures: Antidepressant exposure during pregnancy was defined according to trimester and specific antidepressant classes. Main Outcomes and Measures: Children with ASD were defined as those with at least 1 diagnosis of ASD between date of birth and last date of follow-up. Cox proportional hazards regression models were used to estimate crude and adjusted hazard ratios with 95% CIs. Results: During 904035.50 person-years of follow-up, 1054 children (0.7%) were diagnosed with ASD; boys with ASD outnumbered girls by a ratio of about 4:1. The mean (SD) age of children at the end of follow-up was 6.24 (3.19) years. Adjusting for potential confounders, use of antidepressants during the second and/or third trimester was associated with the risk of ASD (31 exposed infants; adjusted hazard ratio, 1.87; 95% CI, 1.15-3.04). Use of selective serotonin reuptake inhibitors during the second and/or third trimester was significantly associated with an increased risk of ASD (22 exposed infants; adjusted hazard ratio, 2.17; 95% CI, 1.20-3.93). The risk was persistent even after taking into account maternal history of depression (29 exposed infants; adjusted hazard ratio, 1.75; 95% CI, 1.03-2.97). Conclusions and Relevance: Use of antidepressants, specifically selective serotonin reuptake inhibitors, during the second and/or third trimester increases the risk of ASD in children, even after considering maternal depression. Further research is needed to specifically assess the risk of ASD associated with antidepressant types and dosages during pregnancy.
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4. Contreras BP, Betz AM. {{Using lag schedules to strengthen the intraverbal repertoires of children with autism}}. {J Appl Behav Anal};2015 (Dec 14)
Previous research has demonstrated the utility of using lag schedules of reinforcement to increase response variability of children with autism. However, little research has evaluated whether the lag schedule promotes variability from within an already-established repertoire or expands the current repertoire by promoting the use of new responses (i.e., those not previously demonstrated). Thus, the purpose of the current study was to evaluate the extent to which lag schedules of reinforcement produced already-established intraverbal responses or novel responses for 3 children with autism. Results showed that lag schedules alone were sufficient to increase the number of different responses emitted for 2 participants, whereas brief variability training was needed for 1 participant. Further, some participants emitted novel responses throughout the experiment, suggesting that lag schedules may be an effective method for expanding a response class.
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5. Field C, Allen ML, Lewis C. {{Are Children with Autism Spectrum Disorder Initially Attuned to Object Function Rather Than Shape for Word Learning?}}. {J Autism Dev Disord};2015 (Dec 14)
We investigate the function bias-generalising words to objects with the same function-in typically developing (TD) children, children with autism spectrum disorder (ASD) and children with other developmental disorders. Across four trials, a novel object was named and its function was described and demonstrated. Children then selected the other referent from a shape match (same shape, different function) and function match (same function, different shape) object. TD children and children with ASD were ‘function biased’, although further investigation established that having a higher VMA facilitated function bias understanding in TD children, but having a lower VMA facilitated function bias understanding in children with ASD. This suggests that children with ASD are initially attuned to object function, not shape.
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6. Hanratty J, Livingstone N, Robalino S, Terwee CB, Glod M, Oono IP, Rodgers J, Macdonald G, McConachie H. {{Systematic Review of the Measurement Properties of Tools Used to Measure Behaviour Problems in Young Children with Autism}}. {PLoS One};2015;10(12):e0144649.
BACKGROUND: Behaviour problems are common in young children with autism spectrum disorder (ASD). There are many different tools used to measure behavior problems but little is known about their validity for the population. OBJECTIVES: To evaluate the measurement properties of behaviour problems tools used in evaluation of intervention or observational research studies with children with ASD up to the age of six years. METHODS: Behaviour measurement tools were identified as part of a larger, two stage, systematic review. First, sixteen major electronic databases, as well as grey literature and research registers were searched, and tools used listed and categorized. Second, using methodological filters, we searched for articles examining the measurement properties of the tools in use with young children with ASD in ERIC, MEDLINE, EMBASE, CINAHL, and PsycINFO. The quality of these papers was then evaluated using the COSMIN checklist. RESULTS: We identified twelve tools which had been used to measure behaviour problems in young children with ASD, and fifteen studies which investigated the measurement properties of six of these tools. There was no evidence available for the remaining six tools. Two questionnaires were found to be the most robust in their measurement properties, the Child Behavior Checklist and the Home Situations Questionnaire-Pervasive Developmental Disorders version. CONCLUSIONS: We found patchy evidence on reliability and validity, for only a few of the tools used to measure behaviour problems in young children with ASD. More systematic research is required on measurement properties of tools for use in this population, in particular to establish responsiveness to change which is essential in measurement of outcomes of intervention. PROSPERO REGISTRATION NUMBER: CRD42012002223.
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7. Hopf KP, Madren E, Santianni KA. {{Use and Perceived Effectiveness of Complementary and Alternative Medicine to Treat and Manage the Symptoms of Autism in Children: A Survey of Parents in a Community Population}}. {J Altern Complement Med};2015 (Dec 14)
OBJECTIVE: Parents of children with autism spectrum disorders (ASDs) often try a variety of treatments for their children, including complementary and alternative medicine (CAM). The objective of this study was to improve understanding of the frequency of CAM use by parents for their children with autism and to quantify the parents’ perceived effectiveness of various CAM therapies in mitigating the health and functioning problems associated with autism. METHODS: Parents in southeastern Virginia were recruited for study participation from local autism organizations and a clinical practice where a large proportion of the patients are children with autism. Parents completed an online survey and answered questions about CAM use for their children with autism, and they rated the perceived effectiveness of each therapy. RESULTS: Of 194 parents surveyed, 80.9% reported that they had tried some form of CAM for their child with autism. Among CAM users, the most frequently used therapies were multivitamins (58.6%), the gluten-free casein-free diet (54.8%), and methyl B-12 injections (54.1%). The CAM therapies that received the highest average rating of effectiveness were sensory integration therapy, melatonin, and off-label use of prescription antifungal medications. CONCLUSION: CAM therapies were frequently used in this population, and many were perceived to be effective in helping to ease some of the health challenges associated with autism. CAM therapies for the autism population should be further studied in well-controlled clinical research settings to provide safety and efficacy data on treatments, as well as validated treatment options for those with ASD.
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8. Inoue E, Watanabe Y, Xing J, Kushima I, Egawa J, Okuda S, Hoya S, Okada T, Uno Y, Ishizuka K, Sugimoto A, Igeta H, Nunokawa A, Sugiyama T, Ozaki N, Someya T. {{Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population}}. {PLoS One};2015;10(12):e0144624.
Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic etiology of ASD, we performed resequencing and association analysis of CLN8 with ASD in a Japanese population. Resequencing the CLN8 coding region in 256 ASD patients identified five rare missense variations: g.1719291G>A (R24H), rs201670636 (F39L), rs116605307 (R97H), rs143701028 (T108M) and rs138581191 (N152S). These variations were genotyped in 568 patients (including the resequenced 256 patients) and 1017 controls. However, no significant association between these variations and ASD was identified. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population.
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9. King BH. {{Assessing Risk of Autism Spectrum Disorder in Children After Antidepressant Use During Pregnancy}}. {JAMA Pediatr};2015 (Dec 14):1-2.
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10. Oh S, Ji H, Barzman D, Lin PI, Hutton J. {{Pediatric asthma and autism-genomic perspectives}}. {Clin Transl Med};2015 (Dec);4(1):37.
High-throughput technologies, ranging from microarrays to NexGen sequencing of RNA and genomic DNA, have opened new avenues for exploration of the pathobiology of human disease. Comparisons of the architecture of the genome, identification of mutated or modified sequences, and pre-and post- transcriptional regulation of gene expression as disease specific biomarkers are revolutionizing our understanding of the causes of disease and are guiding the development of new therapies. There is enormous heterogeneity in types of genomic variation that occur in human disease. Some are inherited, while others are the result of new somatic or germline mutations or errors in chromosomal replication. In this review, we provide examples of changes that occur in the human genome in two of the most common chronic pediatric disorders, autism and asthma. The incidence and economic burden of both of these disorders are increasing worldwide. Genomic variations have the potential to serve as biomarkers for personalization of therapy and prediction of outcomes.
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11. Pramparo T, Lombardo MV, Campbell K, Barnes CC, Marinero S, Solso S, Young J, Mayo M, Dale A, Ahrens-Barbeau C, Murray SS, Lopez L, Lewis N, Pierce K, Courchesne E. {{Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers}}. {Mol Syst Biol};2015;11(12):841.
Genetic mechanisms underlying abnormal early neural development in toddlers with Autism Spectrum Disorder (ASD) remain uncertain due to the impossibility of direct brain gene expression measurement during critical periods of early development. Recent findings from a multi-tissue study demonstrated high expression of many of the same gene networks between blood and brain tissues, in particular with cell cycle functions. We explored relationships between blood gene expression and total brain volume (TBV) in 142 ASD and control male toddlers. In control toddlers, TBV variation significantly correlated with cell cycle and protein folding gene networks, potentially impacting neuron number and synapse development. In ASD toddlers, their correlations with brain size were lost as a result of considerable changes in network organization, while cell adhesion gene networks significantly correlated with TBV variation. Cell cycle networks detected in blood are highly preserved in the human brain and are upregulated during prenatal states of development. Overall, alterations were more pronounced in bigger brains. We identified 23 candidate genes for brain maldevelopment linked to 32 genes frequently mutated in ASD. The integrated network includes genes that are dysregulated in leukocyte and/or postmortem brain tissue of ASD subjects and belong to signaling pathways regulating cell cycle G1/S and G2/M phase transition. Finally, analyses of the CHD8 subnetwork and altered transcript levels from an independent study of CHD8 suppression further confirmed the central role of genes regulating neurogenesis and cell adhesion processes in ASD brain maldevelopment.
