1. Begeer S, Fink E, van der Meijden S, Goossens F, Olthof T. {{Bullying-related behaviour in a mainstream high school versus a high school for autism: Self-report and peer-report}}. {Autism};2015 (Aug 3)
This study examined the frequency of bullying, victimisation and defending behaviours among children with autism spectrum disorder and normal intelligence, using both self-report and peer-report information. Peer-report and self-report data were collected on a single classroom of 26 early adolescent boys attending a special school for children with autism and compared with 23 typically developing boys attending a single mainstream secondary school. Results showed that self- and peer-reported bully and victimisation rates did not differ between boys with autism spectrum disorder and typically developing boys. However, self-reported defending behaviour was less likely to be reported by boys in the autism spectrum disorder school compared to boys in the mainstream school, although there was no such difference for peer-reported defending.
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2. DeVilbiss EA, Gardner RM, Newschaffer CJ, Lee BK. {{Maternal folate status as a risk factor for autism spectrum disorders: a review of existing evidence}}. {Br J Nutr};2015 (Aug 5):1-10.
Emerging evidence from epidemiological studies supports the notion that maternal folate status regulated by dietary and genetic factors early in pregnancy may influence the risk of autism spectrum disorders (ASD). In this review, we provide an overview of what is known about the role of folate in the aetiology of neurodevelopmental disorders; summarise relevant biological, genetic and epigenetic mechanisms; and synthesise the evidence from human observational studies and randomised controlled trials that have examined the relationship between maternal folate and ASD or related traits. Much of the existing literature on this topic is subject to limitations such as potential confounding by healthy behaviours and other dietary factors, and exposure assessed within limited exposure windows. As the existing evidence is inconclusive, further research remains to be conducted in order to verify this hypothesis. Complete assessment of maternal functional folate status through the pre- and peri-conceptional periods requires biological measurement of folate, vitamin B12 and homocysteine and genetic variants involved in one-carbon metabolism and epigenetic mechanisms. In addition to more complete assessment of maternal functional folate status, careful consideration of potential confounding is warranted.
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3. Feron F, Gepner B, Lacassagne E, Stephan D, Mesnage B, Blanchard MP, Boulanger N, Tardif C, Deveze A, Rousseau S, Suzuki K, Izpisua Belmonte JC, Khrestchatisky M, Nivet E, Erard-Garcia M. {{Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders}}. {Mol Psychiatry};2015 (Aug 4)
With an onset under the age of 3 years, autism spectrum disorders (ASDs) are now understood as diseases arising from pre- and/or early postnatal brain developmental anomalies and/or early brain insults. To unveil the molecular mechanisms taking place during the misshaping of the developing brain, we chose to study cells that are representative of the very early stages of ontogenesis, namely stem cells. Here we report on MOlybdenum COfactor Sulfurase (MOCOS), an enzyme involved in purine metabolism, as a newly identified player in ASD. We found in adult nasal olfactory stem cells of 11 adults with ASD that MOCOS is downregulated in most of them when compared with 11 age- and gender-matched control adults without any neuropsychiatric disorders. Genetic approaches using in vivo and in vitro engineered models converge to indicate that altered expression of MOCOS results in neurotransmission and synaptic defects. Furthermore, we found that MOCOS misexpression induces increased oxidative-stress sensitivity. Our results demonstrate that altered MOCOS expression is likely to have an impact on neurodevelopment and neurotransmission, and may explain comorbid conditions, including gastrointestinal disorders. We anticipate our discovery to be a fresh starting point for the study on the roles of MOCOS in brain development and its functional implications in ASD clinical symptoms. Moreover, our study suggests the possible development of new diagnostic tests based on MOCOS expression, and paves the way for drug screening targeting MOCOS and/or the purine metabolism to ultimately develop novel treatments in ASD.Molecular Psychiatry advance online publication, 4 August 2015; doi:10.1038/mp.2015.106.
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4. Maddox BB, White SW. {{Comorbid Social Anxiety Disorder in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Aug 5)
Social anxiety symptoms are common among cognitively unimpaired youth with autism spectrum disorder (ASD). Few studies have investigated the co-occurrence of social anxiety disorder (SAD) in adults with ASD, although identification may aid access to effective treatments and inform our scientific efforts to parse heterogeneity. In this preliminary study, we examined the clinical presentation of SAD in adults with ASD (n = 28), relative to SAD uncomplicated by ASD (n = 26). A large subset (50 %) of the adults with ASD met diagnostic criteria for SAD. The adults with ASD plus SAD differed from those with ASD without SAD on several characteristics. Findings demonstrate that many adults with ASD are aware of their social difficulties and experience impairing social anxiety.
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5. Pantaleon FG, Juvier RT. {{[Molecular basis of Rett syndrome: A current look]}}. {Rev Chil Pediatr};2015 (Jul 31)
Rett syndrome (RS) is a neurodevelopmental disorder that exclusively affects girls, and occurs along with autism. It is very uncommon, and has five distinct forms, one classic and the others atypical, which generally compromise manual skills, language, and mobility, and widely associated with the appearance of stereotypy and early epilepsy. With the aim of updating the information about RS, a search was performed in the computer data bases of PubMed, Hinari, SCIELO and Medline, as well as consulting other web sites including OMIM, ORPHANET, GeneMap, Genetests, Proteins and Gene, using the descriptors « Sindrome de Rett », « genes y Sindrome de Rett », « Rett Syndrome gene », « Rett Syndrome », « Rett Syndrome gene therapy », and « Rett Syndrome review ». Of the 1,348 articles found, 42 articles were selected, which reported 3 genes causing the syndrome: MECP2, CDKL5 and FOXG. The MECP2 gene is mutated in 80% of patients with classic RS, as well as in 40% of those affected by any of its atypical forms. RS with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 genes, respectively. CONCLUSIONS: The diagnosis of RS is based on clinical criteria. However, the advances in molecular biology and genetics have opened a wide range of possibilities for diagnosing the different clinical forms that could not be classified before. Molecular analysis can help confirm the clinical criteria and provided information as regards the prognosis of the patient.
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6. Phillips M, Pozzo-Miller L. {{Dendritic spine dysgenesis in autism related disorders}}. {Neurosci Lett};2015 (Aug 5);601:30-40.
The activity-dependent structural and functional plasticity of dendritic spines has led to the long-standing belief that these neuronal compartments are the subcellular sites of learning and memory. Of relevance to human health, central neurons in several neuropsychiatric illnesses, including autism related disorders, have atypical numbers and morphologies of dendritic spines. These so-called dendritic spine dysgeneses found in individuals with autism related disorders are consistently replicated in experimental mouse models. Dendritic spine dysgenesis reflects the underlying synaptopathology that drives clinically relevant behavioral deficits in experimental mouse models, providing a platform for testing new therapeutic approaches. By examining molecular signaling pathways, synaptic deficits, and spine dysgenesis in experimental mouse models of autism related disorders we find strong evidence for mTOR to be a critical point of convergence and promising therapeutic target.
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7. Schonewolf-Greulich B, Duno M, Ravn K, Brondum-Nielsen K, Bisgaard AM. {{[Clinical molecular genetics diagnostics of Rett syndrome in Denmark]}}. {Ugeskr Laeger};2015 (Jun 29);177(27)
The neurodevelopmental disorder Rett syndrome was first described in 1966 by Andreas Rett, who described girls with loss of speech and hand use displaying characteristic hand stereotypies. Since then, the disease has been linked to mutations in the gene MECP2. However, the basis of the diagnosis is still clinical as defined by the latest clinical criteria as proposed by Neul and colleagues in 2010. This article presents a short clinical and molecular overview of the latest in Rett syndrome with emphasis on the Danish patients, headlines for making the diagnosis, differential diagnoses and molecular diagnostic possibilities.
8. Sesarini CV, Costa L, Granana N, Coto MG, Pallia RC, Argibay PF. {{Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD)}}. {Psychiatry Res};2015 (Jul 28)
ASD might be associated with alterations in excitation/inhibition ratio and GABA(A) has been implicated since it mediates synaptic inhibition. Polymorphisms in GABA receptor (GABAR) were studied: significant differences in allele and genotype frequencies observed between cases and controls (rs1912960, GABRA4). Haplotype analysis: rs1912960 (GABRA4) and rs211037 (GABRG2) overrepresented in cases. Rs1912960 has been associated with ASD and rs211037 with epilepsy. GABRA4 is associated with autism in the Argentinean dataset independently or in combination with GABRG2.
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9. Small DM, Pelphrey KA. {{Autism Spectrum Disorder: Sniffing Out a New Biomarker}}. {Curr Biol};2015 (Aug 3);25(15):R674-676.
Early intervention improves prognosis in autism spectrum disorder, yet diagnosis is very difficult in preverbal children. A new study demonstrates that the automatic adjustments in sniffing patterns to pleasant and unpleasant odors may provide a window into early diagnosis.
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10. Smitha KG, Vinod AP. {{Facial emotion recognition system for autistic children: a feasible study based on FPGA implementation}}. {Med Biol Eng Comput};2015 (Aug 4)
Children with autism spectrum disorder have difficulty in understanding the emotional and mental states from the facial expressions of the people they interact. The inability to understand other people’s emotions will hinder their interpersonal communication. Though many facial emotion recognition algorithms have been proposed in the literature, they are mainly intended for processing by a personal computer, which limits their usability in on-the-move applications where portability is desired. The portability of the system will ensure ease of use and real-time emotion recognition and that will aid for immediate feedback while communicating with caretakers. Principal component analysis (PCA) has been identified as the least complex feature extraction algorithm to be implemented in hardware. In this paper, we present a detailed study of the implementation of serial and parallel implementation of PCA in order to identify the most feasible method for realization of a portable emotion detector for autistic children. The proposed emotion recognizer architectures are implemented on Virtex 7 XC7VX330T FFG1761-3 FPGA. We achieved 82.3 % detection accuracy for a word length of 8 bits.
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11. Wang M, Chen H, Yu T, Cui G, Jiao A, Liang H. {{Increased serum levels of brain-derived neurotrophic factor in autism spectrum disorder}}. {Neuroreport};2015 (Aug 5);26(11):638-641.
The aim of this study was to investigate the potential role of brain-derived neurotrophic factor (BDNF) in children with autism spectrum disorders (ASD) by measuring serum circulating levels of BDNF as well as calcium and comparing them with age-matched and sex-matched normal controls. The study included 75 drug-naive ASD children and 75 age-sex-matched healthy children. The concentration of serum BDNF was determined using the enzyme-linked immunosorbent assay method at baseline. Clinical information was collected. The severity of ASD was assessed at admission using the Childhood Autism Rating Scale total score. The results indicated that the mean serum BDNF levels were significantly (P<0.0001) higher in children with ASD compared with the control cases (17.59+/-5.55 vs. 11.21+/-2.79 ng/ml; t=8.902). On the basis of the receiver operating characteristic curve, the optimal cutoff value of serum BDNF levels as an indicator for auxiliary diagnosis of autism was projected to be 12.65 ng/ml, which yielded a sensitivity of 80.8% and a specificity of 70.2%; the area under the curve was 0.840 [95% confidence interval (CI), 0.777-0.904]. In univariate logistic regression analysis, with an unadjusted odds ratio of 9.42 (95% CI, 4.33-25.95; P<0.0001), BDNF of 12.65 ng/ml or more had an association with a diagnosis of ASD. After adjusting for possible covariates, BDNF of 12.65 ng/ml or more is still an independent indicator of ASD, with an adjusted odds ratio of 7.33 (95% CI, 2.98-16.55; P<0.0001). Serum BDNF levels may be associated independently with the severity of ASD, and higher BDNF levels could be considered an independent diagnostic marker of ASD.
