1. Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Jr., Goin-Kochel RP, Vaz FM, Beaudet AL. {{A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism}}. {Proc Natl Acad Sci U S A};2012 (May 7)
We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6-N-trimethyllysine dioxygenase. Deletion of exon 2 of TMLHE causes enzyme deficiency, resulting in increased substrate concentration (6-N-trimethyllysine) and decreased product levels (3-hydroxy-6-N-trimethyllysine and gamma-butyrobetaine) in plasma and urine. TMLHE deficiency is common in control males (24 in 8,787 or 1 in 366) and was not significantly increased in frequency in probands from simplex autism families (9 in 2,904 or 1 in 323). However, it was 2.82-fold more frequent in probands from male-male multiplex autism families compared with controls (7 in 909 or 1 in 130; P = 0.023). Additionally, six of seven autistic male siblings of probands in male-male multiplex families had the deletion, suggesting that TMLHE deficiency is a risk factor for autism (metaanalysis Z-score = 2.90 and P = 0.0037), although with low penetrance (2-4%). These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.
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2. 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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3. 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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4. 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.
