1. Adlam J. {{Why hasn’t studying perception in autism spectrum disorders helped us create a cognitive model?}}. {Psychiatr Danub};2015 (Sep);27 Suppl 1:535-541.
There are a number of cognitive models of autism that aim to explain how mental processes are handled differently in the condition. These models make claims about the nature of cognitive function in people with autism, and suggest that these differences applied in social contexts lead to the characteristic behavioural patterns. However, it is difficult to study these cognitive differences directly because of the complexity of social situations. Studies of perceptual function are tempting as an alternative way to study cognition because it is far easier to control the conditions and the stimuli that participants are exposed to. This makes hypothesis generation and interpretation of results more objective and more convincing. However, the study of perception in autism hasn’t been very productive in contributing towards a model of cognition in autism. In many areas there are studies reporting contradictory results, preventing arrival at a consensus about the largest unresolved issues in the area. These studies tend to be repeated multiple times, but continue to provide contradictory evidence that doesn’t allow us to place confidence in any of the cognitive models. An approach to these issues is proposed, focusing on critical analysis of contradictory studies rather than the endless process of repetition. This allows previous studies to be interpreted more objectively and resolve conflicts, and guides the design of future studies in ways that avoid the pitfalls that have been identified. Both of these outcomes result in more productive work being done. The first example is in the study of motion perception in autism, where the use of non-identical stimuli has been problematic. On closer critical analysis, a fundamental aspect of the motion stimuli demonstrates that the contradictions might be expected based on the differences in stimuli used. Addressing this issue can move the field towards resolution. A second example is in the study of spatial frequency sensitivity. Here, poor study design has created results leading to an « eagle-eyed visual acuity » hypothesis of autism. Errors in the initial study are revealed, suggesting that the model should be abandoned. Finally, a general issue is the assumption of homogeneity of perceptual ability and genetics in autism, where the reality is that subgroups exist within the population of people with autism, and significant variation exists between them. The evidence for this is summarised and the issues that it creates explored.
2. Barnett JP, Maticka-Tyndale E. {{Qualitative Exploration of Sexual Experiences Among Adults on the Autism Spectrum: Implications for Sex Education}}. {Perspect Sex Reprod Health};2015 (Sep 29)
CONTEXT: The increasing prevalence of autism since the 1990s has led to growing demand for sex education that meets the needs of persons on the autism spectrum. Yet there is a dearth of research documenting the firsthand experiences and perspectives of autistic individuals. METHODS: A thematic analysis was conducted of in-depth, Internet-facilitated interviews with 24 adults on the autism spectrum who were recruited from Internet community spaces between November 2012 and May 2013. Inclusion criteria were self-identification as a person on the autism spectrum, being a U.S. resident, being aged 18 or older, and having the ability to communicate orally or through writing. RESULTS: Participants were aged 18-61 and were living in the community at the time of interview, most with limited extrafamilial support. They were less likely than the general population to be heterosexual or gender-conforming and were more likely to have experienced romantic or sexual debut after age 18. Participants’ most common concerns were courtship difficulties and sensory dysregulation in the context of partnered sexuality. These concerns were exacerbated by inadequate and inappropriate sex education experiences. Participants addressed challenges by using sensory barriers (e.g., latex gloves); planning when and how to have sex; negotiating alternatives to sexual scripts predicated on nondisabled experience; and practicing explicit and intentional communication. CONCLUSIONS: Individuals on the autism spectrum would benefit from sex education that normalizes differences (e.g., in identities and experiences of sexuality), is offered throughout young adulthood, addresses disability-relevant sensory and communication needs, and includes practicing neurotypical sociosexual norms.
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3. Devinsky O, Asato M, Camfield P, Geller E, Kanner AM, Keller S, Kerr M, Kossoff EH, Lau H, Kothare S, Singh BK, Wirrell E. {{Delivery of epilepsy care to adults with intellectual and developmental disabilities}}. {Neurology};2015 (Sep 30)
Epilepsy is common in people with intellectual and developmental disabilities (IDD). In adulthood, patients with IDD and epilepsy (IDD-E) have neurologic, psychiatric, medical, and social challenges compounded by fragmented and limited care. With increasing neurologic disability, there is a higher frequency of epilepsy, especially symptomatic generalized and treatment-resistant epilepsies. The causes of IDD-E are increasingly recognized to be genetic based on chromosomal microarray analysis to identify copy number variants, gene panels (epilepsy, autism spectrum disorder, intellectual disability), and whole-exome sequencing. A specific genetic diagnosis may guide care by pointing to comorbid disorders and best therapy. Therapy to control seizures should be individualized, with drug selection based on seizure types, epilepsy syndrome, concomitant medications, and comorbid disorders. There are limited comparative antiepileptic drug data in the IDD-E population. Vagus nerve and responsive neural stimulation therapies and resective surgery should be considered. Among the many comorbid disorders that affect patients with IDD-E, psychiatric and sleep disorders are common but often unrecognized and typically not treated. Transition from holistic and coordinated pediatric to adult care is often a vulnerable period. Communication among adult health care providers is complex but essential to ensure best care when these patients are seen in outpatient, emergency room, and inpatient settings. We propose specific recommendations for minimum care standards for people with IDD-E.
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4. Egawa J, Watanabe Y, Sugimoto A, Nunokawa A, Shibuya M, Igeta H, Inoue E, Hoya S, Orime N, Hayashi T, Sugiyama T, Someya T. {{Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study}}. {Psychiatry Res};2015 (Sep 30);229(1-2):599-601.
Two truncating variations (WDR90 V1125fs and EFCAB5 L1210fs), identified by whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder (ASD), were not detected in 257 ASD patients, 677 schizophrenia patients or 667 controls in a follow-up study. Thus, these variations were exclusively identified in the family, suggesting that rare truncating variations may have a role in the genetic etiology of ASD, at least in a subset of ASD patients.
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5. Fishman I, Datko M, Cabrera Y, Carper RA, Muller RA. {{Reduced integration and differentiation of the imitation network in autism: A combined fcMRI and DWI study}}. {Ann Neurol};2015 (Sep 29)
OBJECTIVE: Converging evidence indicates that brain abnormalities in autism spectrum disorders (ASD) involve atypical network connectivity, but few studies have integrated functional with structural connectivity measures. This multimodal investigation examined functional and structural connectivity of the imitation network in children and adolescents with ASD, and its links with clinical symptoms. METHODS: Resting-state functional magnetic resonance imaging and diffusion weighted imaging were performed in 35 participants with ASD and 35 typically developing (TD) controls, ages 8-17 years, matched for age, gender, IQ, and head motion. RESULTS: Within-network analyses revealed overall reduced functional connectivity (FC) between distributed imitation regions in the ASD group. Whole-brain analyses showed that underconnectivity in ASD occurred exclusively in regions belonging to the imitation network, whereas overconnectivity was observed between imitation nodes and extraneous regions. Structurally, reduced fractional anisotropy and increased mean diffusivity were found in white matter tracts directly connecting key imitation regions with atypical FC in ASD. These differences in microstructural organization of white matter correlated with weaker FC and greater ASD symptomatology. INTERPRETATION: Findings demonstrate atypical connectivity of the brain network supporting imitation in ASD, characterized by a highly specific pattern. This pattern of underconnectivity within, but overconnectivity outside the functional network is in contrast with typical development and suggests reduced network integration and differentiation in ASD. Our findings also indicate that atypical connectivity of the imitation network may contribute to ASD clinical symptoms, highlighting the role of this fundamental social cognition ability in the pathophysiology of ASD. This article is protected by copyright. All rights reserved.
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6. Gadad BS, Li W, Yazdani U, Grady S, Johnson T, Hammond J, Gunn H, Curtis B, English C, Yutuc V, Ferrier C, Sackett GP, Marti CN, Young K, Hewitson L, German DC. {{Administration of thimerosal-containing vaccines to infant rhesus macaques does not result in autism-like behavior or neuropathology}}. {Proc Natl Acad Sci U S A};2015 (Sep 28)
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Some anecdotal reports suggest that ASD is related to exposure to ethyl mercury, in the form of the vaccine preservative, thimerosal, and/or receiving the measles, mumps, rubella (MMR) vaccine. Using infant rhesus macaques receiving thimerosal-containing vaccines (TCVs) following the recommended pediatric vaccine schedules from the 1990s and 2008, we examined behavior, and neuropathology in three brain regions found to exhibit neuropathology in postmortem ASD brains. No neuronal cellular or protein changes in the cerebellum, hippocampus, or amygdala were observed in animals following the 1990s or 2008 vaccine schedules. Analysis of social behavior in juvenile animals indicated that there were no significant differences in negative behaviors between animals in the control and experimental groups. These data indicate that administration of TCVs and/or the MMR vaccine to rhesus macaques does not result in neuropathological abnormalities, or aberrant behaviors, like those observed in ASD.
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7. Gal E, Lamash L, Bauminger-Zviely N, Zancanaro M, Weiss PL. {{Using Multitouch Collaboration Technology to Enhance Social Interaction of Children with High-Functioning Autism}}. {Phys Occup Ther Pediatr};2015 (Sep 30):1-12.
AIMS: Children with high-functioning Autism Spectrum Disorder (HFASD) have major difficulties in social communication skills, which may impact their performance and participation in everyday life. The goal of this study was to examine whether the StoryTable, an intervention paradigm based on a collaborative narrative, multitouch tabletop interface, enhanced social interaction for children with HFASD, and to determine whether the acquired abilities were transferred to behaviors during other tasks. METHODS: Fourteen boys with HFASD, aged 7-12 years, participated in a three-week, 11-session intervention. Social interactions during two nonintervention tasks were videotaped at three points in time, one prior to the intervention (pre), a second immediately following the intervention (post) and a third three weeks after the intervention (follow-up). The video-recorded files were coded using the Friendship Observation Scale to ascertain the frequencies of positive and negative social interactions and collaborative play. Differences in these behaviors were tested for significance using nonparametric statistical tests. RESULTS: There were significantly higher rates of positive social interactions and collaborative play, and lower rates of negative social interactions following the intervention suggesting generalization of the social skills learned during the intervention. Improvement was maintained when tested three weeks later. CONCLUSION: These findings provide support for the use of collaborative technology-based interventions within educational settings to enhance social interaction of children with HFASD.
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8. Ghaleiha A, Rasa SM, Nikoo M, Farokhnia M, Mohammadi MR, Akhondzadeh S. {{A pilot double-blind placebo-controlled trial of pioglitazone as adjunctive treatment to risperidone: Effects on aberrant behavior in children with autism}}. {Psychiatry Res};2015 (Sep 30);229(1-2):181-187.
To assess the safety and efficacy of pioglitazone added to risperidone in the treatment of irritability in autistic disorder (AD), we conducted this study. In a 10-week, randomized, double-blind, parallel-group, placebo-controlled clinical trial, 44 outpatients of both genders aged 4-12 years with a diagnosis of AD and a score of >/=12 on the Aberrant Behavior Checklist-Community (ABC-C) irritability subscale were included. Mean change of ABC-C irritability subscale score as primary outcome, change in other ABC-C subscale scores and partial and complete responses were compared between two groups. Twenty patients completed the trial in each group. Level of reduction and effect of timextreatment interaction in the treatment group were significant for irritability (P=0.03), lethargy/social withdrawal (P=0.04) and hyperactivity/non-compliance (P=0.03) but not for stereotypic behavior and inappropriate speech subscales compared with the placebo group. Vomiting and headache were the most frequent reported side-effects. Results of this preliminary study indicate positive effects of pioglitazone compared with placebo in improving the behavioral symptoms of AD.
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9. Klabunde M, Saggar M, Hustyi KM, Kelley RG, Reiss AL, Hall SS. {{Examining the neural correlates of emergent equivalence relations in fragile X syndrome}}. {Psychiatry Res};2015 (Sep 30);233(3):373-379.
The neural mechanisms underlying the formation of stimulus equivalence relations are poorly understood, particularly in individuals with specific learning impairments. As part of a larger study, we used functional magnetic resonance imaging (fMRI) while participants with fragile X syndrome (FXS), and age- and IQ-matched controls with intellectual disability, were required to form new equivalence relations in the scanner. Following intensive training on matching fractions to pie charts (A=B relations) and pie charts to decimals (B=C relations) outside the scanner over a 2-day period, participants were tested on the trained (A=B, B=C) relations, as well as emergent symmetry (i.e., B=A and C=B) and transitivity/equivalence (i.e., A=C and C=A) relations inside the scanner. Eight participants with FXS (6 female, 2 male) and 10 controls, aged 10-23 years, were able to obtain at least 66.7% correct on the trained relations in the scanner and were included in the fMRI analyses. Across both groups, results showed that the emergence of symmetry relations was correlated with increased brain activation in the left inferior parietal lobule, left postcentral gyrus, and left insula, broadly supporting previous investigations of stimulus equivalence research in neurotypical populations. On the test of emergent transitivity/equivalence relations, activation was significantly greater in individuals with FXS compared with controls in the right middle temporal gyrus, left superior frontal gyrus and left precuneus. These data indicate that neural execution was significantly different in individuals with FXS than in age- and IQ-matched controls during stimulus equivalence formation. Further research concerning how gene-brain-behavior interactions may influence the emergence of stimulus equivalence in individuals with intellectual disabilities is needed.
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10. Kucukkal T, Yang Y, Uvarov O, Cao W, Alexov E. {{Impact of Rett Syndrome Mutations on MeCP2 MBD Stability}}. {Biochemistry};2015 (Sep 29)
RRett syndrome causing missense mutations in the methyl-CpG-binding domain (MBD) of methyl CpG-binding protein 2 (MeCP2) were investigated both in silico and in vitro to reveal their effect on protein stability. It is demonstrated that the vast majority of frequently occurring mutations in human population indeed alter MBD folding free energy by a fraction of kcal/mol up to more than 1 kcal/mol. While the absolute magnitude of the change of the free energy is small, the effect on MBD functionality may be significant since the folding free energy of MBD is about 2 kcal/mol only. Thus, it is emphasized that the effect of mutations on protein integrity should be evaluated with respect to the wild type folding free energy but not with the absolute value of the folding free energy change. Furthermore, it was observed that the magnitude of the effect is correlated neither with the burial of the mutations site nor with the basic amino acid physico-chemical property change. Mutations that strongly perturb immediate structural features were found to have little effect on folding free energy while very conservative mutations resulted in large changes of the MBD stability. This observation was attributed to protein’s ability to structurally relax and re-organize to reduce the effect of mutation. Comparison between in silico and in vitro results indicated that some web servers perform relatively well while free energy perturbation approach frequently over-predicts the magnitude of the free energy change especially when a charged amino acid is involved.
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11. Lange KW, Hauser J, Reissmann A. {{Gluten-free and casein-free diets in the therapy of autism}}. {Curr Opin Clin Nutr Metab Care};2015 (Sep 28)
PURPOSE OF REVIEW: The purpose of this study is to discuss the role of gluten-free and casein-free diets in the treatment of autism. RECENT FINDINGS: In a recent UK survey, more than 80% of parents of children with autism spectrum disorder reported some kind of dietary intervention for their child (gluten-free and casein-free diet in 29%). When asked about the effects of the gluten-free and casein-free diet, 20-29% of the parents reported significant improvements on the autism spectrum disorder core dimensions. The findings of this study suggest additional effects of a gluten-free and casein-free diet on comorbid problems of autism such as gastrointestinal symptoms, concentration, and attention. The findings of another recent investigation suggested that age and certain urine compounds may predict the response of autism symptoms to a gluten-free and casein-free diet. Although these results need to be replicated, they highlight the importance of patient subgroup analysis. Intervention trials evaluating the effects of a gluten-free and casein-free diet on autistic symptoms have so far been contradictory and inconclusive. SUMMARY: Most investigations assessing the efficacy of a gluten-free and casein-free diet in the treatment of autism are seriously flawed. The evidence to support the therapeutic value of this diet is limited and weak. A gluten-free and casein-free diet should only be administered if an allergy or intolerance to nutritional gluten or casein is diagnosed.
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12. Lim CS, Yang JE, Lee YK, Lee K, Lee JA, Kaang BK. {{Understanding the molecular basis of autism in a dish using hiPSCs-derived neurons from ASD patients}}. {Mol Brain};2015;8(1):57.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social cognition, language development, and repetitive/restricted behaviors. Due to the complexity and heterogeneity of ASD and lack of a proper human cellular model system, the pathophysiological mechanism of ASD during the developmental process is largely unknown. However, recent progress in induced pluripotent stem cell (iPSC) technology as well as in vitro neural differentiation techniques have allowed us to functionally characterize neurons and analyze cortical development during neural differentiation. These technical advances will increase our understanding of the pathogenic mechanisms of heterogeneous ASD and help identify molecular biomarkers for patient stratification as well as personalized medicine. In this review, we summarize our current knowledge of iPSC generation, differentiation of specific neuronal subtypes from iPSCs, and phenotypic characterizations of human ASD patient-derived iPSC models. Finally, we discuss the current limitations of iPSC technology and future directions of ASD pathophysiology studies using iPSCs.
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13. Maurin T, Melko M, Abekhoukh S, Khalfallah O, Davidovic L, Jarjat M, D’Antoni S, Catania MV, Moine H, Bechara E, Bardoni B. {{The FMRP/GRK4 mRNA interaction uncovers a new mode of binding of the Fragile X mental retardation protein in cerebellum}}. {Nucleic Acids Res};2015 (Sep 30);43(17):8540-8550.
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is caused by the silencing of the FMR1 gene encoding an RNA-binding protein (FMRP) mainly involved in translational control. We characterized the interaction between FMRP and the mRNA of GRK4, a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase super-family, both in vitro and in vivo. While the mRNA level of GRK4 is unchanged in the absence or in the presence of FMRP in different regions of the brain, GRK4 protein level is increased in Fmr1-null cerebellum, suggesting that FMRP negatively modulates the expression of GRK4 at the translational level in this brain region. The C-terminal region of FMRP interacts with a domain of GRK4 mRNA, that we called G4RIF, that is folded in four stem loops. The SL1 stem loop of G4RIF is protected by FMRP and is part of the S1/S2 sub-domain that directs translation repression of a reporter mRNA by FMRP. These data confirm the role of the G4RIF/FMRP complex in translational regulation. Considering the role of GRK4 in GABAB receptors desensitization, our results suggest that an increased GRK4 levels in FXS might contribute to cerebellum-dependent phenotypes through a deregulated desensitization of GABAB receptors.
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14. Offit PA. {{Vaccines and autism in primate model}}. {Proc Natl Acad Sci U S A};2015 (Sep 28)
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15. Oswald TM, Beck JS, Iosif AM, McCauley JB, Gilhooly LJ, Matter JC, Solomon M. {{Clinical and Cognitive Characteristics Associated with Mathematics Problem Solving in Adolescents with Autism Spectrum Disorder}}. {Autism Res};2015 (Sep 29)
Mathematics achievement in autism spectrum disorder (ASD) has been understudied. However, the ability to solve applied math problems is associated with academic achievement, everyday problem-solving abilities, and vocational outcomes. The paucity of research on math achievement in ASD may be partly explained by the widely-held belief that most individuals with ASD are mathematically gifted, despite emerging evidence to the contrary. The purpose of the study was twofold: to assess the relative proportions of youth with ASD who demonstrate giftedness versus disability on applied math problems, and to examine which cognitive (i.e., perceptual reasoning, verbal ability, working memory) and clinical (i.e., test anxiety) characteristics best predict achievement on applied math problems in ASD relative to typically developing peers. Twenty-seven high-functioning adolescents with ASD and 27 age- and Full Scale IQ-matched typically developing controls were assessed on standardized measures of math problem solving, perceptual reasoning, verbal ability, and test anxiety. Results indicated that 22% of the ASD sample evidenced a mathematics learning disability, while only 4% exhibited mathematical giftedness. The parsimonious linear regression model revealed that the strongest predictor of math problem solving was perceptual reasoning, followed by verbal ability and test anxiety, then diagnosis of ASD. These results inform our theories of math ability in ASD and highlight possible targets of intervention for students with ASD struggling with mathematics. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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16. Papale LA, Zhang Q, Li S, Chen K, Keles S, Alisch RS. {{Genome-wide disruption of 5-hydroxymethylcytosine in a mouse model of autism}}. {Hum Mol Genet};2015 (Sep 30)
The autism spectrum disorders (ASD) comprise a broad group of behaviorally related neurodevelopmental disorders affecting as many as 1 in 68 children. The hallmarks of ASD consist of impaired social and communication interactions, pronounced repetitive behaviors and restricted patterns of interests. Family, twin, and epidemiological studies suggest a polygenetic and epistatic susceptibility model involving the interaction of many genes; however, the etiology of ASD is likely to be complex and include both epigenetic and environmental factors. 5-hydroxymethylcytosine (5hmC) is a novel environmentally sensitive DNA modification that is highly enriched in post-mitotic neurons and is associated with active transcription of neuronal genes. Here, we used an established chemical labeling and affinity purification method coupled with high-throughput sequencing technology to generate a genome-wide profile of striatal 5hmC in an autism mouse model (Cntnap2-/- mice) and found that at 9 weeks of age the Cntnap2-/- mice have a genome-wide disruption in 5hmC, primarily in genic regions and repetitive elements. Annotation of differentially hydroxymethylated regions (DhMRs) to genes revealed a significant overlap with known ASD genes (e.g., Nrxn1 and Reln) that carried an enrichment of neuronal ontological functions, including axonogenesis and neuron projection morphogenesis. Finally, sequence motif predictions identified associations with transcription factors that have a high correlation with important genes in neuronal developmental and functional pathways. Together, our data implicate a role for 5hmC-mediated epigenetic modulation in the pathogenesis of autism and represent a critical step toward understanding the genome-wide molecular consequence of the Cntnap2 mutation, which results in an autism-like phenotype.
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17. Paquet A, Olliac B, Golse B, Vaivre-Douret L. {{Current knowledge on motor disorders in children with autism spectrum disorder (ASD)}}. {Child Neuropsychol};2015 (Sep 29):1-32.
Motor symptomatology in autism is currently poorly understood, and still not included in the autism spectrum disorder (ASD) diagnostic criteria, although some studies suggest the presence of motor disturbances in this syndrome. We provide here a literature review on early motor symptoms in autism, focusing on studies on psychomotor issues (tone, postural control, manual dexterity, handedness, praxis). The approach adopted in research to study altered motor behaviors is generally global and there is no detailed semiology of the motor or neuromotor disorders observed in people with ASD. This global approach does not enable understanding of the neuro-developmental mechanisms involved in ASD. Identification of clinical neuro-psychomotor profiles in reference to a standard would help to better understand the origin and the nature of the disorders encountered in ASD, and would thus give new directions for treatment.
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18. 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 (Sep 30);229(1-2):580-582.
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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19. Sungur AO, Schwarting RK, Wohr M. {{Early communication deficits in the Shank1 knockout mouse model for autism spectrum disorder: Developmental aspects and effects of social context}}. {Autism Res};2015 (Sep 30)
Alterations in SHANK genes were repeatedly reported in autism spectrum disorder (ASD). ASD is a group of neurodevelopmental disorders diagnosed by persistent deficits in social communication/interaction across multiple contexts, with restricted/repetitive patterns of behavior. To date, diagnostic criteria for ASD are purely behaviorally defined and reliable biomarkers have still not been identified. The validity of mouse models for ASD therefore strongly relies on their behavioral phenotype. Here, we studied communication by means of isolation-induced pup ultrasonic vocalizations (USV) in the Shank1 mouse model for ASD by comparing Shank1-/- null mutant, Shank1+/- heterozygous, and Shank1+/+ wildtype littermate controls. The first aim of the present study was to evaluate the effects of Shank1 deletions on developmental aspects of communication in order to see whether ASD-related communication deficits are due to general impairment or delay in development. Second, we focused on social context effects on USV production. We show that Shank1-/- pups vocalized less and displayed a delay in the typical inverted U-shaped developmental USV emission pattern with USV rates peaking on postnatal day (PND) 9, resulting in a prominent genotype difference on PND6. Moreover, testing under social conditions revealed even more prominently genotype-dependent deficits regardless of the familiarity of the social context. As communication by definition serves a social function, introducing a social component to the typically nonsocial test environment could therefore help to reveal communication deficits in mouse models for ASD. Together, these results indicate that SHANK1 is involved in acoustic communication across species, with genetic alterations in SHANK1 resulting in social communication/interaction deficits. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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20. Tsilioni I, Taliou A, Francis K, Theoharides TC. {{Children with autism spectrum disorders, who improved with a luteolin-containing dietary formulation, show reduced serum levels of TNF and IL-6}}. {Transl Psychiatry};2015;5:e647.
Autism spectrum disorders (ASDs) have been associated with brain inflammation as indicated by microglia activation, as well as brain expression and increased plasma levels of interleukin-6 (IL-6) and tumor necrosis factor (TNF). Here we report that serum levels of IL-6 and TNF were elevated (61.95+/-94.76 pg ml(-1) and 313.8+/-444.3 pg ml(-1), respectively) in the same cohort of patients with elevated serum levels of corticotropin-releasing hormone (CRH) and neurotensin (NT), while IL-9, IL-31 and IL-33 were not different from controls. The elevated CRH and NT levels did not change after treatment with a luteolin-containing dietary formulation. However, the mean serum IL-6 and TNF levels decreased significantly (P=0.036 and P=0.015, respectively) at the end of the treatment period (26 weeks) as compared with levels at the beginning; these decreases were strongly associated with children whose behavior improved the most after luteolin formulation treatment. Our results indicate that there are distinct subgroups of children within the ASDs that may be identifiable through serum levels of IL-6 and TNF and that these cytokines may constitute distinct prognostic markers for at least the beneficial effect of luteolin formulation.
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21. Zivoder I, Martic-Biocina S, Kosic AV, Bosak J. {{Neurofeedback application in the treatment of autistic spectrum disorders (ASD)}}. {Psychiatr Danub};2015 (Sep);27 Suppl 1:391-394.
The aim of this paper is to describe neurofeedback (NFB) treatment in Autistic spectrum disorder (ASD) children. There is no specific cure for autism and therapeutic guidelines are directed to improve the quality of life of people with autism by reducing the symptoms and by increasing their functioning. Neurofeedback is a computerized method based on tracking electrical activity of the brain (EEG) and giving a feedback about it. The method has been developed in neurophysiological labs of scientific institutes in USA and has been used very successfully for over last 20 years. It has proven its efficacy in practise, but also in scientific and clinical research. During 2010 and 2011 neurofeedback treatment was administered to 10 children (N=10, 7 males and 3 females) age range 4 to 7 years which have been diagnosed as autistic spectrum disorder (highly functional) with an unspecific impairment of speech development and trouble communicating. An evaluation of treatment was done according to estimation of changes in functioning (parents, teachers and therapists’ ratings and all other experts that were monitoring the child before, during and after the treatment) and tracking of changes in electrophysiology. The results have shown most changes in behaviour (less aggressive, more cooperation, better communication), attention span and sensory motor skills. According to the assessment of parents, teachers, therapists and other experts all children have accomplished a certain degree of improvement in the level of daily functioning. Our experiences in usage of neurofeedback in Autistic spectrum disorder (ASD) children confirmed previous data that this method can be applied to this category of patients.
