1. Bailey AJ. {{Where are the autism economists?}} {Autism Res};2009 (Oct 20)
2. Genuis S. {{Is autism reversible?}} {Acta Paediatr};2009 (Oct);98(10):1575-1578.
3. Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, Lintas C, Abramson RK, Wright HH, Ellis P, Langford CF, Worley G, Delong GR, Murphy SK, Cuccaro ML, Persico A, Pericak-Vance MA. {{Genomic and epigenetic evidence for oxytocin receptor deficiency in autism}}. {BMC Med};2009 (Oct 22);7(1):62.
ABSTRACT: BACKGROUND: Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to identify genes implicated in the development of autism, less than 10% of autism cases have been attributed to single gene disorders. METHODS: We describe the use of high-resolution genome-wide tilepath microarrays and comparative genomic hybridization to identify copy number variants within 119 probands from multiplex autism families. We next carried out DNA methylation analysis by bisulfite sequencing in a proband and his family, expanding this analysis to methylation analysis of peripheral blood and temporal cortex DNA of autism cases and matched controls from independent datasets. We also assessed oxytocin receptor (OXTR) gene expression within the temporal cortex tissue by quantitative real-time polymerase chain reaction (PCR). RESULTS: Our analysis revealed a genomic deletion containing the oxytocin receptor gene, OXTR (MIM accession no.: 167055), previously implicated in autism, was present in an autism proband and his mother who exhibits symptoms of obsessive-compulsive disorder. The proband’s affected sibling did not harbor this deletion but instead may exhibit epigenetic misregulation of this gene through aberrant gene silencing by DNA methylation. Further DNA methylation analysis of the CpG island known to regulate OXTR expression identified several CpG dinucleotides that show independent statistically significant increases in the DNA methylation status in the peripheral blood cells and temporal cortex in independent datasets of individuals with autism as compared to control samples. Associated with the increase in methylation of these CpG dinucleotides is our finding that OXTR mRNA showed decreased expression in the temporal cortex tissue of autism cases matched for age and sex compared to controls. CONCLUSIONS: Together, these data provide further evidence for the role of OXTR and the oxytocin signaling pathway in the etiology of autism and, for the first time, implicate the epigenetic regulation of OXTR in the development of the disorder. See the related commentary by Gurrieri and Neri: http://www.biomedcentral.com/1741-7015/7/63.
4. Gurrieri F, Neri G. {{Defective oxytocin function: a clue to understanding the cause of autism?}}{ BMC Med};2009 (Oct 22);7(1):63.
ABSTRACT: The autism spectrum disorders are a group of conditions with neurobehavioral impairment affecting approximately 0.6% of children. The clinical presentation is complex and the etiology is largely unknown, although a major role of genetic factors is widely accepted. A number of genetic studies led to the identification of genes and/or copy number variants whose alterations are associated with autism, but no specific factor has been found so far to be responsible for a substantial proportion of cases. Epigenetic modifications may also play a role, as demonstrated by the occurrence of autism in genetic conditions caused by mutations in imprinted genes or regions. The article by Gregory et al. published this month in BMC Medicine, reports on genomic and epigenetic alterations of OXTR, the gene encoding the receptor for oxytocin. The involvement of this gene was suggested by its deletion in an autistic patient. The subsequent analysis of a group of unrelated autistic subjects did not show an OXTR deletion, but rather hypermethylation of the gene promoter, with a reduced mRNA expression. These findings address two major points of the current debate on the etiology and pathogenesis of autism: the role of oxytocin, known to be involved in modeling human behavior, and the possible involvement of epigenetic mechanisms. The nature of this epigenetic dysregulation is unknown but, if proved to be true, might explain the failure to identify sequence alterations in a host of candidate genes. Practical implications of these findings may be forthcoming, however not before extension and validation on a larger scale have confirmed their value. See the associated research paper by Gregory et al: http://www.biomedcentral.com/1741-7015/7/62.
5. Oosterling IJ, Wensing M, Swinkels SH, van der Gaag RJ, Visser JC, Woudenberg T, Minderaa R, Steenhuis MP, Buitelaar JK. {{Advancing early detection of autism spectrum disorder by applying an integrated two-stage screening approach}}. {J Child Psychol Psychiatry};2009 (Oct 19)
Background: Few field trials exist on the impact of implementing guidelines for the early detection of autism spectrum disorders (ASD). The aims of the present study were to develop and evaluate a clinically relevant integrated early detection programme based on the two-stage screening approach of Filipek et al. (1999), and to expand the evidence base for this approach. Methods: The integrated early detection programme encompassed: 1) training relevant professionals to recognise early signs of autism and to use the Early Screening of Autistic Traits Questionnaire (ESAT; Dietz, Swinkels et al., 2006; Swinkels, van Daalen, van Engeland, & Buitelaar, 2006), 2) using a specific referral protocol, and 3) building a multidisciplinary diagnostic team. The programme was evaluated in a controlled study involving children in two regions (N = 2793, range 0-11 years). The main outcome variables were a difference in mean age at ASD diagnosis and a difference in the proportion of children diagnosed before 36 months. Results: ASD was diagnosed 21 months (95% CI 9.6, 32.4) earlier in the experimental region than in the control region during the follow-up period, with the mean age at ASD diagnosis decreasing by 19.5 months (95% CI 10.5, 28.5) from baseline in the experimental region. Children from the experimental region were 9.4 times (95% CI 2.1, 41.3) more likely than children from the control region to be diagnosed before age 36 months after correction for baseline measurements. Most of these early diagnosed children had narrowly defined autism with mental retardation. Conclusions: The integrated early detection programme appears to be clinically relevant and led to the earlier detection of ASD, mainly in children with a low IQ.
6. Remington A, Swettenham J, Campbell R, Coleman M. {{Selective Attention and Perceptual Load in Autism Spectrum Disorder}}. {Psychol Sci};2009 (Oct 14)
ABSTRACT- It has been suggested that the locus of selective attention (early vs. late in processing) is dependent on the perceptual load of the task. When perceptual load is low, irrelevant distractors are processed (late selection), whereas when perceptual load is high, distractor interference disappears (early selection). Attentional abnormalities have long been reported within autism spectrum disorder (ASD), and this study is the first to examine the effect of perceptual load on selective attention in this population. Fourteen adults with ASD and 23 adults without ASD performed a selective attention task with varying perceptual loads. Compared with the non-ASD group, the ASD group required higher levels of perceptual load to successfully ignore irrelevant distractors; moreover, the ASD group did not show any general reduction in performance speed or accuracy. These results suggest enhanced perceptual capacity in the ASD group and are consistent with previous observations regarding superior visual search abilities among individuals with ASD.
7. Tuzzi A. {{Grammar and lexicon in individuals with autism: a quantitative analysis of a large italian corpus}}. {Intellect Dev Disabil};2009 (Oct);47(5):373-385.
Statistical and linguistic procedures were implemented to analyze a large corpus of texts written by 37 individuals with autism and 92 facilitators (without disabilities), producing written conversations by means of PCs. Such texts were compared and contrasted to identify the specific traits of the lexis of the group of individuals with autism and assess to what extent it differed from the lexis of the facilitators. The purpose of this research was to identify specific language features using statistical procedures to analyze contingency lexical tables that reported on the frequencies of words and grammatical categories in different subcorpora and among different writers. The results support the existence of lexis and distributional patterns of grammatical categories that are characteristic of the written production of individuals with autism and that are different from those of facilitators.
8. Wick JY, Zanni GR. {{Autism and aging: hardly out of the woods}}. {Consult Pharm};2009 (Sep);24(9):648-650, 653-660.
Leo Kanner first described autism in 1943, but it took the America Psychiatric Association almost 40 years to recognize it officially in 1980. It is one of five diverse pervasive developmental disorders grouped under the diagnostic category of autism spectrum disorders (ASD). Autism’s core symptoms include socialization deficits, inability to understand and communicate with others, and restricted, repetitive behavioral patterns. Few children « outgrow it » or are cured. While good care and early intervention can help children develop the skills they need to deal with others in socially appropriate ways, clinicians usually see these same or similar behaviors in adults. ASD is associated with an array of problems including anxiety, depression, food allergies, and attention deficit hyperactivity disorders. Because the onset of autism occurs in early childhood, long-term care practitioners are more apt to encounter older adults who were misdiagnosed in childhood. When behavioral interventions are not fully effective, clinicians and families may look for medication. No medications are approved to treat autism’s core symptoms. People with ASD have mental health disorders at rates higher than their peers, and these disorders can be treated. Long-term care practitioners need to prepare to see the people first diagnosed with autism in the 1980s who are now reaching old age with the need for long-term care facilities.
