1. Derosa BA, Van Baaren JM, Dubey GK, Lee JM, Cuccaro ML, Vance JM, Pericak-Vance MA, Dykxhoorn DM. {{Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells}}. {Neurosci Lett};2012 (May 10);516(1):9-14.
Induced pluripotent stem cells (iPSCs) hold tremendous potential both as a biological tool to uncover the pathophysiology of disease by creating relevant cell models and as a source of stem cells for cell-based therapeutic applications. Typically, iPSCs have been derived by the transgenic overexpression of transcription factors associated with progenitor cell or stem cell function in fibroblasts derived from skin biopsies. However, the need for skin punch biopsies to derive fibroblasts for reprogramming can present a barrier to study participation among certain populations of individuals, including children with autism spectrum disorders (ASDs). In addition, the acquisition of skin punch biopsies in non-clinic settings presents a challenge. One potential mechanism to avoid these limitations would be the use of peripheral blood mononuclear cells (PBMCs) as the source of the cells for reprogramming. In this article we describe, for the first time, the derivation of iPSC lines from PBMCs isolated from the whole blood of autistic children, and their subsequent differentiation in GABAergic neurons.
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2. Ghanizadeh A. {{Targeting Mitochondria by Olesoxime or Complement 1q Binding Protein as a Novel Management for Autism: A Hypothesis}}. {Mol Syndromol};2011 (Dec);2(1):50-52.
Excitotoxicity, oxidative stress, and mitochondrial dysfunction are associated with autism. Considering the preventive role of complement 1q binding protein or olesoxime for the opening of mitochondrial permeability transition pore mediated by oxidative stress, it is hypothesized that complement 1q binding protein or olesoxime may improve some symptoms of autism.
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3. Grindle CF, Hastings RP, Saville M, Hughes JC, Huxley K, Kovshoff H, Griffith GM, Walker-Jones E, Devonshire K, Remington B. {{Outcomes of a Behavioral Education Model for Children With Autism in a Mainstream School Setting}}. {Behav Modif};2012 (May 7)
The authors report 1-year outcomes for 11 children (3-7 years) with autism who attended an « Applied Behavior Analysis (ABA) classroom » educational intervention in a mainstream school setting. The children learned new skills by the end of 1 year and learned additional skills during a 2nd year. Group analysis of standardized test outcomes (IQ and adaptive behavior) showed moderate to large effect size changes over 1 year, with further changes during a 2nd year. Standardized test outcomes for nine children after 2 years were also analyzed against a comparison group (n = 18) of children with autism receiving « education as usual. » These controlled comparisons were associated with statistically significant large effects in favor of the ABA group for adaptive skills. Exploratory analysis also showed that increases in language and learning skills in the ABA class group were generally associated with positive changes in standardized test scores. A comprehensive behavioral intervention model can be successfully implemented in a mainstream school setting.
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4. Kandalaft MR, Didehbani N, Krawczyk DC, Allen TT, Chapman SB. {{Virtual Reality Social Cognition Training for Young Adults with High-Functioning Autism}}. {J Autism Dev Disord};2012 (May 9)
Few evidence-based social interventions exist for young adults with high-functioning autism, many of whom encounter significant challenges during the transition into adulthood. The current study investigated the feasibility of an engaging Virtual Reality Social Cognition Training intervention focused on enhancing social skills, social cognition, and social functioning. Eight young adults diagnosed with high-functioning autism completed 10 sessions across 5 weeks. Significant increases on social cognitive measures of theory of mind and emotion recognition, as well as in real life social and occupational functioning were found post-training. These findings suggest that the virtual reality platform is a promising tool for improving social skills, cognition, and functioning in autism.
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5. Schneider K, Pauly KD, Gossen A, Mevissen L, Michel TM, Gur RC, Schneider F, Habel U. {{Neural Correlates of Moral Reasoning in Autism Spectrum Disorder}}. {Soc Cogn Affect Neurosci};2012 (May 7)
In our study, we tried to clarify whether patients with autism spectrum disorder (ASD) reveal different moral decision patterns as compared to healthy subjects and whether common social interaction difficulties in ASD are reflected in altered brain activation during different aspects of moral reasoning.28 patients with high-functioning ASD and 28 healthy subjects matched for gender, age, and education took part in an event-related functional magnetic resonance imaging study. Participants were confronted with textual dilemma situations followed by proposed solutions to which they could agree or disagree.On a neural level, moral decision making was associated with activation in anterior medial prefrontal regions, the temporo-parietal junction (TPJ), and the precuneus for both groups. However, while patients and healthy controls did not exhibit significant behavioral differences, ASD patients showed decreased activation in limbic regions, particularly the amygdala, as well as increased activation in the anterior and the posterior cingulate gyrus during moral reasoning.Alterations of brain activation in patients might thus indicate specific impairments in empathy. However, activation increases in brain regions associated with the « default mode network » and self-referential cognition also provide evidence for an altered way of patients’ cerebral processing with regard to decision making based on social information.
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6. Steiner AM, Gengoux GW, Klin A, Chawarska K. {{Pivotal Response Treatment for Infants At-Risk for Autism Spectrum Disorders: A Pilot Study}}. {J Autism Dev Disord};2012 (May 10)
Presently there is limited research to suggest efficacious interventions for infants at-risk for autism. Pivotal response treatment (PRT) has empirical support for use with preschool children with autism, but there are no reports in the literature utilizing this approach with infants. In the current study, a developmental adaptation of PRT was piloted via a brief parent training model with three infants at-risk for autism. Utilizing a multiple baseline design, the data suggest that the introduction of PRT resulted in increases in the infants’ frequency of functional communication and parents’ fidelity of implementation of PRT procedures. Results provide preliminary support for the feasibility and utility of PRT for very young children at-risk for autism.
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7. Tan H, Poidevin M, Li H, Chen D, Jin P. {{MicroRNA-277 Modulates the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats}}. {PLoS Genet};2012 (May);8(5):e1002681.
Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder, has been recognized in older male fragile X premutation carriers and is uncoupled from fragile X syndrome. Using a Drosophila model of FXTAS, we previously showed that transcribed premutation repeats alone are sufficient to cause neurodegeneration. MiRNAs are sequence-specific regulators of post-transcriptional gene expression. To determine the role of miRNAs in rCGG repeat-mediated neurodegeneration, we profiled miRNA expression and identified selective miRNAs, including miR-277, that are altered specifically in Drosophila brains expressing rCGG repeats. We tested their genetic interactions with rCGG repeats and found that miR-277 can modulate rCGG repeat-mediated neurodegeneration. Furthermore, we identified Drep-2 and Vimar as functional targets of miR-277 that could modulate rCGG repeat-mediated neurodegeneration. Finally, we found that hnRNP A2/B1, an rCGG repeat-binding protein, can directly regulate the expression of miR-277. These results suggest that sequestration of specific rCGG repeat-binding proteins could lead to aberrant expression of selective miRNAs, which may modulate the pathogenesis of FXTAS by post-transcriptionally regulating the expression of specific mRNAs involved in FXTAS.
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8. Taylor BA, Dequinzio JA. {{Observational Learning and Children With Autism}}. {Behav Modif};2012 (May 7)
A skill essential for successful inclusion in general education settings is the ability to learn by observing others. Research, however, has documented children with autism display significant deficits in the fundamental skills necessary for observational learning. This article outlines the skills essential for observational learning from an operant learning perspective, the research base on teaching observational learning to children with autism, and suggests practical strategies to increase these skills in children with autism so they may more fully benefit from inclusion in general education settings.
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9. Winarni TI, Mundhofir FE, Ediati A, Belladona M, Nillesen WM, Yntema HG, Hamel BC, Faradz SM, Hagerman RJ. {{The Fragile X-associated Tremor Ataxia Syndrome (FXTAS) in Indonesia}}. {Clin Genet};2012 (May 8)
Background: Fragile X- associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% over the age of 80. Methods: FMR1 molecular analysis was done using PCR and confirmed by Southern Blot. Three premutation males were diagnosed FXTAS using quantification based on the standard neurological examination. Cognitive impairment was assessed using Raven and WAIS-R test. MRI was done to identify the middle cerebellar peduncle (MCP) sign, white matter disease and/or cerebral atrophy. Results: Three cases of FXTAS are identified of 5 individual older than 50 years old in one family tree 2 met criteria for definite FXTAS and the third with sub-clinical symptoms although cognitive and radiological criteria are met. Conclusions: These cases are the first identified FXTAS cases in rural Indonesia. In addition with lack of routine medical follow-up, complications of FXTAS, such as hypertension may go unrecognized and untreated which may further exacerbate the central nervous system (CNS) findings of FXTAS.
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10. Yates D. {{Neurogenetics: Unravelling the genetics of autism}}. {Nat Rev Neurosci};2012 (May 10)
