1. Brown-Lavoie SM, Viecili MA, Weiss JA. {{Sexual Knowledge and Victimization in Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014.
There is a significant gap in understanding the risk of sexual victimization in individuals with autism spectrum disorders (ASD) and the variables that contribute to risk. Age appropriate sexual interest, limited sexual knowledge and experiences, and social deficits, may place adults with ASD at increased risk. Ninety-five adults with ASD and 117 adults without ASD completed questionnaires regarding sexual knowledge sources, actual knowledge, perceived knowledge, and sexual victimization. Individuals with ASD obtained less of their sexual knowledge from social sources, more sexual knowledge from non-social sources, had less perceived and actual knowledge, and experienced more sexual victimization than controls. The increased risk of victimization by individuals with ASD was partially mediated by their actual knowledge. The link between knowledge and victimization has important clinical implications for interventions.
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2. Chen J, Alberts I, Li X. {{Dysregulation of the IGF-I/PI3K/AKT/mTOR signaling pathway in autism spectrum disorders}}. {Int J Dev Neurosci}. 2014.
The IGF-I/PI3K/AKT/mTOR signaling pathway plays an important role in the regulation of cell growth, proliferation, differentiation, motility, survival, metabolism and protein synthesis. Insulin-like growth factor-I (IGF-I) is synthesized in the liver and fibroblasts, and its biological actions are mediated by the IGF-I receptor (IGF-IR). The binding of IGF-I to IGF-IR leads to the activation of phosphatidylinositol 3-kinase (PI3K). Activated PI3K stimulates the production of phosphatidylinositol (4,5)-bisphosphate [PI(4,5)P2] and phosphatidylinositol (3,4,5)-trisphosphate [PI(3,4,5)P3]. The PH domain of AKT (protein kinase B, PKB) (v-AKT murine thymoma viral oncogene homolog) binds to PI(4,5)P2 and PI(3,4,5)P3, followed by phosphorylation of the Thr308 and Ser473 regulatory sites. Tuberous sclerosis complex 1 (TSC1) and TSC2 are upstream regulators of mammalian target of rapamycin (mTOR) and downstream effectors of the PI3K/AKT signaling pathway. The activation of AKT suppresses the TSC1/TSC2 heterodimer, which is an upstream regulator of mTOR. Dysregulated IGF-I/PI3K/AKT/mTOR signaling has been shown to be associated with autism spectrum disorders (ASDs). In this review, we discuss the emerging evidence for a functional relationship between the IGF-I/PI3K/AKT/mTOR pathway and ASDs, as well as a possible role of this signaling pathway in the diagnosis and treatment of ASDs.
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3. Clumeck C, Suarez Garcia S, Bourguignon M, Wens V, Op de Beeck M, Marty B, Deconinck N, Soncarrieu MV, Goldman S, Jousmaki V, Van Bogaert P, De Tiege X. {{Preserved Coupling between the Reader’s Voice and the Listener’s Cortical Activity in Autism Spectrum Disorders}}. {PLoS One}. 2014; 9(3): e92329.
PURPOSE: Investigating the steadiness of the phase-coupling between the time-course of the reader’s voice and brain signals of subjects with autism spectrum disorder (ASD) passively listening to connected speech using magnetoencephalography (MEG). In typically developed subjects, such coupling occurs at the right posterior temporal sulcus (pSTS) for frequencies below 1 Hz, and reflects the neural processing of sentence-level rhythmic prosody at the prelexical level. METHODS: Cortical neuromagnetic signals were recorded with MEG (Elekta Oy, Finland) while seven right-handed and native French-speaking ASD subjects (six males, one female, range: 13-20 years) listened to live (Live) or recorded (Recorded) voices continuously reading a text in French for five minutes. Coherence was computed between the reader’s voice time-course and ASD subjects’ MEG signals. Coherent neural sources were subsequently reconstructed using a beamformer. KEY FINDINGS: Significant coupling was found at 0.5 Hz in all ASD subjects in Live and in six subjects in Recorded. Coherent sources were located close to the right pSTS in both conditions. No significant difference was found in coherence levels between Live and Recorded, and between ASD subjects and ten typically developed subjects (right-handed, native French-speaking adults, 5 males, 5 females, age range: 21-38 years) included in a previous study. SIGNIFICANCE: This study discloses a preserved coupling between the reader’s voice and ASD subjects’ cortical activity at the right pSTS. These findings support the existence of preserved neural processing of sentence-level rhythmic prosody in ASD. The preservation of early cortical processing of prosodic elements in verbal language might be exploited in therapeutic interventions in ASD.
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4. Corbett BA, Simon D. {{Adolescence, Stress and Cortisol in Autism Spectrum Disorders}}. {OA Autism}. 2014; 1(1): 2.
Adolescence, the transition between childhood and adulthood, is a period of remarkable physiological, psychological and social change. A variety of physiological changes coincide with the dynamic transition, which is evident in the regulation and responsivity of the Limbic-Hypothalamic-Pituitary-Adrenocortical (LHPA) axis. Specifically, elevations in diurnal basal cortisol levels have been reported, as well as higher cortisol in response to perceived stressors. While this enhanced responsivity may help prepare the individual to adapt to increased demands and new challenges, it may also mark a time of increased vulnerability in populations already prone to enhanced physiological arousal and poor adaption to change, such as autism. To date most studies investigating the integrity of the LHPA axis in children with autism spectrum disorders (ASD) have shown more variable diurnal regulation and a pattern of enhanced responsivity to stress. There is also evidence of more marked reactivity over development suggesting that adolescence may be a time of increased risk for enhanced physiological arousal and social stress. The following review briefly summarizes the literature to date on autism, adolescence and salivary cortisol. The current summary suggests that enhanced study of the interplay between social functioning and stress during the adolescent period in ASD is warranted.
5. Cortelazzo A, De Felice C, Pecorelli A, Belmonte G, Signorini C, Leoncini S, Zollo G, Capone A, Giovampaola CD, Sticozzi C, Valacchi G, Ciccoli L, Guerranti R, Hayek J. {{Beta-actin deficiency with oxidative posttranslational modifications in rett syndrome erythrocytes: insights into an altered cytoskeletal organization}}. {PLoS One}. 2014; 9(3): e93181.
Beta-actin, a critical player in cellular functions ranging from cell motility and the maintenance of cell shape to transcription regulation, was evaluated in the erythrocyte membranes from patients with typical Rett syndrome (RTT) and methyl CpG binding protein 2 (MECP2) gene mutations. RTT, affecting almost exclusively females with an average frequency of 1ratio10,000 female live births, is considered the second commonest cause of severe cognitive impairment in the female gender. Evaluation of beta-actin was carried out in a comparative cohort study on red blood cells (RBCs), drawn from healthy control subjects and RTT patients using mass spectrometry-based quantitative analysis. We observed a decreased expression of the beta-actin isoforms (relative fold changes for spots 1, 2 and 3: -1.82+/-0.15, -2.15+/-0.06, and -2.59+/-0.48, respectively) in pathological RBCs. The results were validated by western blotting and immunofluorescence microscopy. In addition, beta-actin from RTT patients also showed a dramatic increase in oxidative posttranslational modifications (PTMs) as the result of its binding with the lipid peroxidation product 4-hydroxy-2-nonenal (4-HNE). Our findings demonstrate, for the first time, a beta-actin down-regulation and oxidative PTMs for RBCs of RTT patients, thus indicating an altered cytoskeletal organization.
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6. Davignon MN, Friedlaender E, Cronholm PF, Paciotti B, Levy SE. {{Parent and Provider Perspectives on Procedural Care for Children with Autism Spectrum Disorders}}. {J Dev Behav Pediatr}. 2014.
OBJECTIVE:: Children with autism spectrum disorders (CWASDs) have more difficulty tolerating hospital procedures than many other children. The aim of this study was to identify parent and provider perspectives on barriers and facilitators to procedural care for CWASDs. METHODS:: Semistructured interviews were conducted with medical staff and parents of CWASDs. Those parents whose child with autism required a procedure in a tertiary care sedation unit and those whose child was enrolled in autismMatch (a research registry for individuals with autism) were recruited. Staff providing direct patient care in the tertiary care sedation unit were recruited. Participants were asked open-ended questions about factors contributing to or interfering with successful completion of medical procedures for CWASDs. Interviews were audio-recorded, transcribed verbatim, coded, and analyzed using modified grounded theory techniques. RESULTS:: Twenty mothers and 20 medical staff members were interviewed. Participants described 2 domains essential to care of CWASDs but in which barriers existed: (1) productive interactions between providers and families, largely dependent on advanced preparation and (2) modifications to healthcare organization and delivery in the areas of patient flow and clinical environment. Individualized care is essential to quality care in both domains. CONCLUSIONS:: Children with autism spectrum disorders require individualized interventions to maximize the quality of procedural care. However, many hospitals and providers are not sufficiently equipped to accommodate these children’s needs. This study suggests that targeted improvements in preparation and communication between providers and families as well as modifications in patient flow and clinical environments have the potential to improve the quality and successful completion of procedures.
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7. Fatemi SH, Reutiman TJ, Folsom TD, Rustan OG, Rooney RJ, Thuras PD. {{Downregulation of GABA Receptor Protein Subunits alpha6, beta2, delta, epsilon, gamma2, theta, and rho2 in Superior Frontal Cortex of Subjects with Autism}}. {J Autism Dev Disord}. 2014.
We measured protein and mRNA levels for nine gamma-aminobutyric acid A (GABAA) receptor subunits in three brain regions (cerebellum, superior frontal cortex, and parietal cortex) in subjects with autism versus matched controls. We observed changes in mRNA for a number of GABAA and GABAB subunits and overall reduced protein expression for GABAA receptor alpha 6 (GABRalpha6), GABAA receptor beta 2 (GABRbeta2), GABAA receptor delta (GABRdelta), GABAA receptor epsilon (GABRepsilon), GABAA receptor gamma 2 (GABRgamma2), GABAA receptor theta (GABRtheta), and GABAA receptor rho 2 (GABRrho2) in superior frontal cortex from subjects with autism. Our data demonstrate systematic changes in GABAA&B subunit expression in brains of subjects with autism, which may help explain the presence of cognitive abnormalities in subjects with autism.
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8. Jalili M, Jahangiri N, Yazdi AA, Ashrafzadeh F. {{The effects of imitative vs. Cognitive methods on the speech development of children with autism}}. {Iran J Child Neurol}. 2014; 8(1): 37-46.
OBJECTIVE: The present study was performed to examine the effects of two speech therapy methods on six verbal behaviors of autistic children, including oral speech, listening, organizing, speaking, semantics, and syntax. MATERIALS & METHODS: IN THIS STUDY, THIRTY CHILDREN WITH AUTISM WERE ASSIGNED TO ONE OF TWO GROUPS: imitative and cognitive groups. Before starting the main procedures of the study, the children of both groups were homogenized concerning their autism level. In the first phase of the study, the speech development level of the two groups was measured in a pre-test, in which both groups showed similar results. Then, both groups of children received 6 months of speech therapy instruction, during which one group was taught using an imitative method, while the other group was being worked with cognitive method. RESULTS: After 6-month treatment period, a post-test was done, and the t-tests based on the data of the two groups revealed a significant difference between the results. CONCLUSION: The statistics showed that after the teaching period, autistic that worked with cognitive method gained a better development in their speech abilities, comparing to those worked with the imitative method.
9. Jiang YV, Capistrano CG, Palm BE. {{Spatial working memory in children with high-functioning autism: Intact configural processing but impaired capacity}}. {J Abnorm Psychol}. 2014; 123(1): 248-57.
Visual attention and visual working memory exert severe capacity limitations on cognitive processing. Impairments in both functions may exacerbate the social and communication deficits seen in children with an autism spectrum disorder (ASD). This study characterizes spatial working memory and visual attention in school-age children with high-functioning autism. Children with ASD, and age, gender, and IQ-matched typically developing (TD) children performed 2 tasks: a spatial working memory task and an attentive tracking task. Compared with TD children, children with ASD showed a more pronounced deficit in the spatial working memory task than the attentive tracking task, even though the latter placed significant demands on sustained attention, location updating, and distractor inhibition. Because both groups of children were sensitive to configuration mismatches between the sample and test arrays, the spatial working memory deficit was not because of atypical organization of spatial working memory. These findings show that attention and working memory are dissociable, and that children with ASD show a specific deficit in buffering visual information across temporal discontinuity. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
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10. Johnson CR, Turner K, Stewart PA, Schmidt B, Shui A, Macklin E, Reynolds A, James J, Johnson SL, Manning Courtney P, Hyman SL. {{Relationships Between Feeding Problems, Behavioral Characteristics and Nutritional Quality in Children with ASD}}. {J Autism Dev Disord}. 2014.
Many children with autism spectrum disorders (ASD) have co-occurring feeding problems. However, there is limited knowledge about how these feeding habits are related to other behavioral characteristics ubiqitious in ASD. In a relatively large sample of 256 children with ASD, ages 2-11, we examined the relationships between feeding and mealtime behaviors and social, communication, and cognitive levels as well repetitive and ritualistic behaviors, sensory behaviors, and externalizing and internalizing behaviors. Finally, we examined whether feeding habits were predictive of nutritional adequacy. In this sample, we found strong associations between parent reported feeding habits and (1) repetitive and ritualistic behaviors, (2) sensory features, and (3) externalizing and internalizing behavior. There was a lack of association between feeding behaviors and the social and communication deficits of ASD and cognitive levels. Increases in the degree of problematic feeding behaviors predicted decrements in nutritional adequacy.
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11. Losh M, Martin GE, Klusek J, Hogan-Brown AL. {{Pragmatic Language in autism and fragile X syndrome: Genetic and clinical applications}}. {Perspect Lang Learn Educ}. 2012; 19: 48-55.
Evidence suggests a strong genetic basis to autism. Our research program focuses on identifying genetically meaningful phenotypes in autism, through family-genetic and cross-population methods, with a particular focus on language and social phenotypes that have been shown to aggregate in families of individuals with autism. In this article, we discuss recent findings from family study research implicating particular language and personality features as markers for genetic liability to autism and fragile X syndrome and FMR1-related variation in relatives. We conclude with consideration of the clinical implications of such findings.
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12. Talisa VB, Boyle L, Crafa D, Kaufmann WE. {{Autism and anxiety in males with fragile X syndrome: An exploratory analysis of neurobehavioral profiles from a parent survey}}. {Am J Med Genet A}. 2014.
Although it is suspected that anxiety modifies the clinical presentation of autism in fragile X syndrome (FXS), neuropsychiatric co-morbidity profiles of these two disorders have not been extensively studied. The National Fragile X Survey was completed for 1,027 males with FXS, for whom yes/no information regarding the presence of several disorders is provided. Although the survey exhibited limited depth and lacked validation by standardized measures, this exploratory study was conducted to take advantage of the data as an opportunity for identifying future lines of inquiry. We addressed the following questions: (i) how do the co-morbidity profiles of FXS males with both autism and anxiety compare to those without anxiety?; (ii) do individuals with autism exhibit specific co-morbidity profiles compared to FXS males with anxiety only, or without either autism or anxiety?; (iii) how do co-morbidity profiles in children ages 3-11 differ from profiles of individuals >12 years? The group with autism and anxiety reported the highest prevalence of attention problems, hyperactivity/impulsivity, self-injurious behavior and aggressiveness. In addition, the lowest prevalence rates of these conditions were often observed in non-anxious groups regardless of autism status. Overall, this exploratory analysis generated several hypotheses for further study: (i) anxiety increases the severity of autism in FXS, particularly through additional behavioral abnormalities; (ii) some neuropsychiatric and behavioral conditions (i.e., attention problems, hyperactivity/impulsivity, aggressiveness) are primarily related to comorbid anxiety, not autism; (iii) prevalence of behavioral abnormalities increases with age. Future studies evaluating these hypotheses should incorporate validated neurobehavioral assessments, and control for cognitive level. (c) 2014 Wiley Periodicals, Inc.
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13. Warner G, Moss J, Smith P, Howlin P. {{Autism Characteristics and Behavioural Disturbances in approximately 500 Children with Down’s Syndrome in England and Wales}}. {Autism Res}. 2014.
Recent research shows that a significant minority of children with Down’s syndrome (DS) also meet diagnostic criteria for an autism spectrum disorder (ASD). The present study investigated what proportion of children aged 6-15 years with a confirmed diagnosis of DS in England and Wales display autistic-type behaviours, and explored the characteristics of this group of children. The Social Communication Questionnaire (SCQ) was used to screen for autism characteristics and the Strengths and Difficulties Questionnaire (SDQ) to explore behavioural difficulties. The proportion of children who met the cut-off score for ASD on the SCQ (total score >/= 15) was 37.7% (95% CI: 33.4-42.0%); for autism (total score >/= 22) the proportion was 16.5% (95% CI: 13.2-19.8%). Children who met the cut-off for ASD were significantly more likely to be reported as having emotional symptoms, conduct problems and hyperactivity on the SDQ than children who scored well below cut-off (total score < 10). However, the profile of their autism characteristics on the SCQ was atypical compared with individuals with idiopathic ASD. The pervasiveness of ASD in children with DS in England and Wales is substantially higher than in the general population. These children also experience significantly greater behavioural problems than children with DS only. Early detection of autism characteristics is important for appropriate intervention. However, the unusual profile of autism characteristics in this group may affect the recognition of the disorder and hinder the implementation of appropriate interventions. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Wassink TH, Hazlett HC, Davis LK, Reiss AL, Piven J. {{Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome}}. {J Neurodev Disord}. 2014; 6(1): 6.
BACKGROUND: Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have previously shown that the monoamine oxidase A (MAOA) promoter polymorphism is associated with cerebral cortical volumes in children with autism, and we now sought to determine whether the association was also present in children with FXS. METHODS: Participants included 47 2-year-old Caucasian boys with FXS, some of whom also had autism, as well as 34 2-year-old boys with idiopathic autism analyzed in a previous study. The MAOA promoter polymorphism was genotyped and tested for relationships with gray and white matter volumes of the cerebral cortical lobes and cerebro-spinal fluid volume of the lateral ventricles. RESULTS: MAOA genotype effects in FXS children were the same as those previously observed in idiopathic autism: the low activity MAOA promoter polymorphism allele was associated with increased gray and white matter volumes in all cerebral lobes. The effect was most pronounced in frontal lobe gray matter and all three white matter regions: frontal gray, F = 4.39, P = 0.04; frontal white, F = 5.71, P = 0.02; temporal white, F = 4.73, P = 0.04; parieto-occipital white, F = 5.00, P = 0.03. Analysis of combined FXS and idiopathic autism samples produced P values for these regions <0.01 and effect sizes of approximately 0.10. CONCLUSIONS: The MAOA promoter polymorphism is similarly associated with brain structure volumes in both idiopathic autism and FXS. These data illuminate a number of important aspects of autism and FXS heritability: a genetic effect on a core biological trait of illness, the specificity/generalizability of the genetic effect, and the utility of examining individual genetic effects on the background of a single gene disorder such as FXS.
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15. Zainal H, Magiati I, Tan JW, Sung M, Fung DS, Howlin P. {{Erratum to: A Preliminary Investigation of the Spence Children’s Anxiety Parent Scale as a Screening Tool for Anxiety in Young People with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014.
