1. Chiang CH, Wu CC, Hou YM, Chu CL, Liu JH, Soong WT. {{Development of T-STAT for Early Autism Screening}}. {J Autism Dev Disord}. 2012.
This study’s purpose was to modify the Screening Tool for Autism in Two-Year-Olds (STAT) into a Taiwanese version called T-STAT. Study 1 included 15 children with Autism and 15 children with Developmental Delay (DD) or language impairment (LI) aged between 24 and 35 months. Study 2 had 77 young children with Autism, PDD-NOS, or DD/LI as a clinical-based validation sample. In Study 1, the signal detection procedure found that a cutoff score of 2 would yield high sensitivity and specificity in T-STAT. In Study 2, using a score of 2 as a cutoff, the agreement between T-STAT risk and ADOS classification was highly acceptable. Results were promising as a Level 2 screening tool for Autism for ages two to three.
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2. Douglas JF, Sanders KB, Benneyworth MH, Smith JL, Dejean VM, McGrew SG, Veenstra-Vanderweele J. {{Brief Report: Retrospective Case Series of Oxcarbazepine for Irritability/Agitation Symptoms in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2012.
We examined response to oxcarbazepine prescribed for irritability/agitation symptoms in a retrospective case series of 30 patients with Autism Spectrum Disorder (ASD). The average patient was 12.0 years old (range 5-21) and taking two other psychotropic medications (range 0-4). Fourteen patients (47 %) had a clinical global impression of improvement score of ‘much improved’ during treatment. Ten patients (33 %) showed an improvement on their clinical global impression of severity score. Seven patients (23 %) had a clinically significant adverse event or side effect leading to oxcarbazepine discontinuation. Without a placebo group, it is not possible to evaluate whether oxcarbazepine provides benefit for irritability/agitation symptoms in ASD. The high rate of adverse events suggests its use should be accompanied by caution.
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3. Kana RK, Libero LE, Hu CP, Deshpande HR, Colburn JS. {{Functional Brain Networks and White Matter Underlying Theory-of-Mind in Autism}}. {Soc Cogn Affect Neurosci}. 2012.
Human beings constantly engage in attributing causal explanations to one’s own and to others’ actions, and theory-of-mind (ToM) is critical in making such inferences. Although children learn causal attribution early in development, children with autism spectrum disorders (ASD) are known to have impairments in the development of intentional causality. This fMRI and DTI study investigated the neural correlates of physical and intentional causal attribution in people with ASD. In the fMRI scanner, 15 adolescents and adults with ASD and 15 age-and-IQ-matched typically developing peers made causal judgments about comic strips presented randomly in an event-related design. All participants showed robust activation in bilateral posterior superior temporal sulcus (pSTS) at the temporoparietal junction (TPJ) in response to intentional causality. Participants with ASD showed lower activation in TPJ, right inferior frontal gyrus, and left premotor cortex. Significantly weaker functional connectivity was also found in the ASD group between TPJ and motor areas during intentional causality. DTI data revealed significantly reduced fractional anisotropy in ASD participants in white matter underlying the temporal lobe. In addition to underscoring the role of TPJ in ToM, this study found an interaction between motor simulation and mentalizing systems in intentional causal attribution and its possible discord in autism.
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4. McCary LM, Roberts JE. {{Early identification of autism in fragile X syndrome: a review}}. {J Intellect Disabil Res}. 2012.
Fragile X syndrome (FXS) is the leading genetic cause of autism, accounting for approximately 5% of autism cases with as many as 50% of individuals with FXS meeting DSM-IV-TR criteria for autistic disorder. Both FXS and idiopathic autism (IA) are attributed to genetic causes; however, FXS is an identified single gene disorder whereas autism is a complex disorder with multiple potential causes, some of which have been identified. Studies in IA have focused on the prospective longitudinal examination of infant siblings of children with autism as a target group due to their high risk of developing the disorder. We propose that this same model be applied to the study of infants with FXS. There is a lack of research focusing on the early development of autism within FXS and debate in the literature regarding how to best conceptualise this co-morbidity or whether it should be considered a co-morbid condition at all. Studying the emergence and stability of autism in infants with FXS has multiple benefits such as clarifying the underlying mechanisms of the development of autism in FXS and solidifying similarities and differences between co-morbid FXS with autism and IA. Infant research in both IA and FXS are discussed as well as conclusions and implications for practice and future research.
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5. Mosrati MA, Schrauwen I, Kamoun H, Charfeddine I, Fransen E, Ghorbel A, Van Camp G, Masmoudi S. {{Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation}}. {Gene}. 2012.
Hearing loss is a common congenital anomaly with an incidence of 1 in 1000 live births. It has been described together with several other clinical features as fortuitous association or commune genetic syndrome. In this study, we investigated a consanguineous Tunisian family with moderate to profound congenital hearing loss, mental retardation and autistic behaviors. We performed a genome wide microarray analysis study using approximately 300000 SNPs in a common set of 7 invidious of this family. We identified regions of suggestive linkage with hearing loss on chromosomes 6p12 and 7q34. In addition, we identified a deletion on chromosome 8p in the two autistic individuals. This report presents an illustration of how consanguinity could increase familial clustering of multiple hereditary diseases within the same family. The application of next generation sequencing for this family seems to be the good strategy for further analysis leading to the identification of candidate genes.
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6. Persico AM, Napolioni V. {{Urinary p-cresol in autism spectrum disorder}}. {Neurotoxicol Teratol}. 2012.
Autism spectrum disorder (ASD) is a neuropsychiatric disorder with onset during early childhood and life-long consequences in most cases. It is characterized by impairment in social interaction and communication, as well as by restricted patterns of interest and stereotyped behaviors. The etiology of autism is highly heterogeneous, encompassing a large range of genetic and environmental factors. Several lines of evidence suggest that, in addition to broader diagnostic criteria and increased awareness, also a real increase in incidence primarily due to greater gene-environment interactions may also be occurring. Environmental exposure to the organic aromatic compound p-cresol (4-methylphenol) is relatively common and occurs through the skin, as well as the gastrointestinal and respiratory systems. However, the largest and most widespread source of this compound is represented by some gut bacteria which express p-cresol synthesizing enzymes not found in human cells. Urinary p-cresol and its conjugated derivative p-cresylsulfate have been found elevated in an initial sample and recently in a replica sample of autistic children below 8years of age, where it is associated with female sex, greater clinical severity regardless of sex, and history of behavioral regression. Potential sources of p-cresol excess in ASD, such as gut infection, chronic constipation, antibiotics, abnormal intestinal permeability, and environmental exposure, are being investigated. P-cresol may contribute to worsen autism severity and gut dysfunction, often present in autistic children. It may also contribute to a multibiomarker diagnostic panel useful in small autistic children.
