1. Arciuli J, Stevens K, Trembath D, Simpson IC. {{The Relationship between Parent Report of Adaptive Behavior and Direct Assessment of Reading Ability in Children with Autism Spectrum Disorders}}. {J Speech Lang Hear Res};2013 (Aug 7)
PURPOSE: This study was designed to shed light on the profile of reading ability in children with autism spectrum disorders (ASD). A key aim was to examine the relationship between parent report of adaptive behavior and direct assessment of reading ability in these children. METHOD: We investigated children’s reading ability, using the Wide Ranging Achievement Test-IV (Wilkinson & Robertson, 2006) and the Neale Analysis of Reading Ability-III (Neale, 2007). We collected parent report data using the Vineland Adaptive Behavior Scales-II (Sparrow, Balla, & Cicchetti, 2005). Participants were 21 children with ASD (6-11 years) and their primary care-givers. RESULTS: Direct assessment of children’s reading ability showed that some children with ASD have difficulty learning to read and exhibit particular weaknesses in comprehension. Results revealed positive relationships between VABS-II scores in the Adaptive Communication Domain and direct assessment of children’s reading ability across three measures of reading (i.e., word-level accuracy, passage-level accuracy and passage-level comprehension). CONCLUSIONS: While literacy levels vary amongst children with ASD, some clearly struggle with reading. There is a significant relationship between parent self-report of adaptive behavior and direct assessment of children’s reading ability.
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2. Baron-Cohen S, Jaffa T, Davies S, Auyeung B, Allison C, Wheelwright S. {{Do girls with anorexia nervosa have elevated autistic traits?}}. {Mol Autism};2013;4(1):24.
BACKGROUND: Patients with anorexia may have elevated autistic traits. In this study, we tested test whether patients with anorexia nervosa (anorexia) have an elevated score on a dimensional measure of autistic traits, the Autism Spectrum Quotient (AQ), as well as on trait measures relevant to the autism spectrum: the Empathy Quotient (EQ), and the Systemizing Quotient (SQ). METHODS: Two groups were tested: (1) female adolescents with anorexia: n = 66, aged 12 to 18 years; and (2) female adolescents without anorexia: n =1,609, aged 12 to 18 years. Both groups were tested using the AQ, EQ, and SQ, via the parent-report adolescent versions for patients aged 12 to 15 years old, and the self-report adult versions for patients aged over 16 years. RESULTS: As predicted, the patients with anorexia had a higher AQ and SQ. Their EQ score was reduced, but only for the parent-report version in the younger age group. Using EQ-SQ scores to calculate ‘cognitive types’, patients with anorexia were more likely to show the Type S profile (systemizing (S) better than empathy (E)), compared with typical females. CONCLUSIONS: Females with anorexia have elevated autistic traits. Clinicians should consider if a focus on autistic traits might be helpful in the assessment and treatment of anorexia. Future research needs to establish if these results reflect traits or states associated with anorexia.
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3. Chien WH, Gau SS, Liao HM, Chiu YN, Wu YY, Huang YS, Tsai WC, Tsai HM, Chen CH. {{Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders}}. {Mol Autism};2013 (Aug 1);4(1):26.
BACKGROUND: We recently reported a terminal deletion of approximately 2.4 Mb at chromosome 8p23.2-pter in a boy with autism. The deleted region contained the DLGAP2 gene that encodes the neuronal post-synaptic density protein, discs, large (Drosophila) homolog-associated protein 2. The study aimed to investigate whether DLGAP2 is genetically associated with autism spectrum disorders (ASD) in general. METHODS: We re-sequenced all the exons of DLGPA2 in 515 patients with ASD and 596 control subjects from Taiwan. We also conducted bioinformatic analysis and family study of variants identified in this study. RESULTS: We detected nine common single nucleotide polymorphisms (SNPs) and sixteen novel missense rare variants in this sample. We found that AA homozygotes of rs2906569 (minor allele G, alternate allele A) at intron 1 (P = 0.003) and CC homozygotes of rs2301963 (minor allele A, alternate allele C) at exon 3 (P = 0.0003) were significantly over-represented in the patient group compared to the controls. We also found no differences in the combined frequency of rare missense variants between the two groups. Some of these rare variants were predicted to have an impact on the function of DLGAP2 using informatics analysis, and the family study revealed most of the rare missense mutations in patients were inherited from their unaffected parents. CONCLUSIONS: We detected some common and rare genetic variants of DLGAP2 that might have implication in the pathogenesis of ASD, but they alone may not be sufficient to lead to clinical phenotypes. We suggest that further genetic or environmental factors in affected patients may be present and determine the clinical manifestations.Trial registration: ClinicalTrial.gov: NCT00494754.
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4. Danial JT, Wood JJ. {{Cognitive Behavioral Therapy for Children with Autism: Review and Considerations for Future Research}}. {J Dev Behav Pediatr};2013 (Aug 2)
OBJECTIVE:: Cognitive behavioral therapy (CBT) is now commonly used for high-functioning children with an autism spectrum disorder. The objective of this article was to describe the methods and results of cognitive behavioral interventions for children with autism. METHOD:: This article reviews CBT programs targeting anxiety, disruptive behavior, and core autism symptoms for children with autism. RESULTS:: There is emerging evidence suggesting that CBT is possibly efficacious for anxiety and autism symptoms, but methodological weaknesses must be addressed before clear conclusions can be drawn. CONCLUSION:: More research needs to be conducted to examine the effectiveness of CBT for children with autism. Specifically, future research should use more stringent methodology and assess the effectiveness of specific cognitive strategies and autism-related adaptations.
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5. Meek SE, Lemery-Chalfant K, Jahromi LB, Valiente C. {{A review of gene-environment correlations and their implications for autism: A conceptual model}}. {Psychol Rev};2013 (Jul);120(3):497-521.
A conceptual model is proposed that explains how gene-environment correlations and the multiplier effect function in the context of social development in individuals with autism. The review discusses the current state of autism genetic research, including its challenges, such as the genetic and phenotypic heterogeneity of the disorder, and its limitations, such as the lack of interdisciplinary work between geneticists and social scientists. We discuss literature on gene-environment correlations in the context of social development and draw implications for individuals with autism. The review expands upon genes, behaviors, types of environmental exposure, and exogenous variables relevant to social development in individuals on the autism spectrum, and explains these factors in the context of the conceptual model to provide a more in-depth understanding of how the effects of certain genetic variants can be multiplied by the environment to cause largely phenotypic individual differences. Using the knowledge gathered from gene-environment correlations and the multiplier effect, we outline novel intervention directions and implications. (PsycINFO Database Record (c) 2013 APA, all rights reserved).
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6. Ramsey JM, Guest PC, Broek JA, Glennon J, Rommelse N, Franke B, Rahmoune H, Buitelaar JK, Bahn S. {{Identification of an age-dependent biomarker signature in children and adolescents with autism spectrum disorders}}. {Mol Autism};2013 (Aug 6);4(1):27.
BACKGROUND: Autism spectrum disorders (ASDs) are neurodevelopmental conditions with symptoms manifesting before the age of 3, generally persisting throughout life and affecting social development and communication. Here, we have investigated changes in protein biomarkers in blood during childhood and adolescent development. METHODS: We carried out a multiplex immunoassay profiling analysis of serum samples from 37 individuals with a diagnosis of ASD and their matched, non-affected siblings, aged between 4 to 18 years, to identify molecular pathways affected over the course of ASDs. RESULTS: This analysis revealed age-dependent differences in the levels of 12 proteins involved in inflammation, growth and hormonal signaling. CONCLUSIONS: These deviations in age-related molecular trajectories provide further insight into the progression and pathophysiology of the disorder and, if replicated, may contribute to better classification of ASD individuals, as well as to improved treatment and prognosis. The results also underline the importance of stratifying and analyzing samples by age, especially in ASD and potentially other developmental disorders.
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7. Reynell C, Harris JJ. {{The BOLD signal and neurovascular coupling in autism}}. {Dev Cogn Neurosci};2013 (Jul 12);6C:72-79.
BOLD (blood oxygen level dependent) fMRI (functional magnetic resonance imaging) is commonly used to study differences in neuronal activity between human populations. As the BOLD response is an indirect measure of neuronal activity, meaningful interpretation of differences in BOLD responses between groups relies upon a stable relationship existing between neuronal activity and the BOLD response across these groups. However, this relationship can be altered by changes in neurovascular coupling or energy consumption, which would lead to problems in identifying differences in neuronal activity. In this review, we focus on fMRI studies of people with autism, and comparisons that are made of their BOLD responses with those of control groups. We examine neurophysiological differences in autism that may alter neurovascular coupling or energy use, discuss recent studies that have used fMRI to identify differences between participants with autism and control participants, and explore experimental approaches that could help attribute between-group differences in BOLD signals to either neuronal or neurovascular factors.
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8. Sasson NJ, Touchstone EW. {{Visual Attention to Competing Social and Object Images by Preschool Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Aug 6)
Eye tracking studies of young children with autism spectrum disorder (ASD) report a reduction in social attention and an increase in visual attention to non-social stimuli, including objects related to circumscribed interests (CI) (e.g., trains). In the current study, fifteen preschoolers with ASD and 15 typically developing controls matched on gender and age (range 24-62 months) were eye tracked while viewing a paired preference task of face and object stimuli. While co-varying verbal and nonverbal developmental quotients, preschoolers with ASD were similar to controls in their visual attention to faces presented with objects unrelated to CI, but attended significantly less than controls to faces presented with CI-related objects. This was consistent across three metrics: preference, prioritization and duration. Social attention in preschoolers with ASD therefore appears modulated by salience of competing non-social stimuli, which may affect the development of both social and non-social characteristics of the disorder.
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9. Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. {{Brief Report: MECP2 Mutations in People Without Rett Syndrome}}. {J Autism Dev Disord};2013 (Aug 7)
Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria.
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10. Swanson MR, Siller M. {{Brief Report: Broad Autism Phenotype in Adults is Associated with Performance on an Eye-Tracking Measure of Joint Attention}}. {J Autism Dev Disord};2013 (Aug 7)
The current study takes advantage of modern eye-tracking technology and evaluates how individuals allocate their attention when viewing social videos that display an adult model who is gazing at a series of targets that appear and disappear in the four corners of the screen (congruent condition), or gazing elsewhere (incongruent condition). Data demonstrated the feasibility of administrating this experimental paradigm to a diverse sample of healthy adult college students (N = 44). Results revealed that individual differences in gaze allocation were significantly related to a self-report measure evaluating features of the broad autism phenotype, suggesting that individual variation in the broad autism phenotype is related to individual differences in gaze allocation.
