1. 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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2. Corbett BA, Key AP, Qualls L, Fecteau S, Newsom C, Coke C, Yoder P. {{Improvement in Social Competence Using a Randomized Trial of a Theatre Intervention for Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Sep 29)
The efficacy of a peer-mediated, theatre-based intervention on social competence in participants with autism spectrum disorder (ASD) was tested. Thirty 8-to-14 year-olds with ASD were randomly assigned to the treatment (n = 17) or a wait-list control (n = 13) group. Immediately after treatment, group effects were seen on social ability, (d = .77), communication symptoms (d = -.86), group play with toys in the company of peers (d = .77), immediate memory of faces as measured by neuropsychological (d = .75) and ERP methods (d = .93), delayed memory for faces (d = .98), and theory of mind (d = .99). At the 2 month follow-up period, group effects were detected on communication symptoms (d = .82). The results of this pilot clinical trial provide initial support for the efficacy of the theatre-based intervention.
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3. Coury DL. {{Babies, Bathwater, and Screening for Autism Spectrum Disorder: Comments on the USPSTF Recommendations for Autism Spectrum Disorder Screening}}. {J Dev Behav Pediatr};2015 (Sep 29)
Current guidelines for developmental screening and screening for autism spectrum disorders (ASDs) recommend screening of all children for ASD at ages 18 and 24 months. In a draft recommendation, the United States Preventive Services Task Force finds insufficient evidence to support this practice. Some of the assumptions behind these recommendations fail to consider other benefits of developmental surveillance and screening that ensue from periodic formal screening of all children. Primary care clinicians should err on the side of discovery and advocate for continued formal screening at designated intervals.
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4. De-la-Iglesia M, Olivar JS. {{Risk Factors for Depression in Children and Adolescents with High Functioning Autism Spectrum Disorders}}. {ScientificWorldJournal};2015;2015:127853.
The objective of our study was to examine, discuss, and provide proposals on diagnostic comorbidity of depression in children and adolescents with high functioning autism spectrum disorder (HFASD) in the following aspects. (1) Prevalence. It was concluded that there are an elevated depression rate and the need for longitudinal studies to determine prevalence and incidence based on functioning level, autistic symptoms, gender, age, type of depression, prognosis, duration, and treatment. (2) Explicative Hypotheses and Vulnerability. The factors that present the greatest specific risk are higher cognitive functioning, self-awareness of deficit, capacity for introspection, stressful life events, adolescence, quality of social relationships, and alexithymia. (3) Risk of Suicide. The need for control and detection of suicidal tendencies and bullying is emphasised. (4) Depressive Symptoms. Indicators for early detection are proposed and their overlap with HFASD is analysed, examining the assessment techniques used and arguing that specific adapted tests are needed.
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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. 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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7. Menezo YJ, Elder K, Dale B. {{Link Between Increased Prevalence of Autism Spectrum Disorder Syndromes and Oxidative Stress, DNA Methylation, and Imprinting: The Impact of the Environment}}. {JAMA Pediatr};2015 (Sep 28):1-2.
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8. Moseley RL, Ypma RJ, Holt RJ, Floris D, Chura LR, Spencer MD, Baron-Cohen S, Suckling J, Bullmore E, Rubinov M. {{Whole-brain functional hypoconnectivity as an endophenotype of autism in adolescents}}. {Neuroimage Clin};2015;9:140-152.
Endophenotypes are heritable and quantifiable markers that may assist in the identification of the complex genetic underpinnings of psychiatric conditions. Here we examined global hypoconnectivity as an endophenotype of autism spectrum conditions (ASCs). We studied well-matched groups of adolescent males with autism, genetically-related siblings of individuals with autism, and typically-developing control participants. We parcellated the brain into 258 regions and used complex-network analysis to detect a robust hypoconnectivity endophenotype in our participant group. We observed that whole-brain functional connectivity was highest in controls, intermediate in siblings, and lowest in ASC, in task and rest conditions. We identified additional, local endophenotype effects in specific networks including the visual processing and default mode networks. Our analyses are the first to show that whole-brain functional hypoconnectivity is an endophenotype of autism in adolescence, and may thus underlie the heritable similarities seen in adolescents with ASC and their relatives.
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9. Nickel RE, Huang-Storms L. {{Early Identification of Young Children with Autism Spectrum Disorder}}. {Indian J Pediatr};2015 (Sep 28)
Early identification and treatment of children with autism and other developmental disorders is an international priority. Currently there is great interest in lowering the age of identification. Attention has been focused on public awareness campaigns and the regular use of developmental screening tests by health care providers, health workers and others. In this article the authors discuss the rationale for the use of autism specific screening tests, review the characteristics of selected tools, and make recommendations for the diagnostic evaluation of young children for autism spectrum disorder in an international context.
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10. Nicolaidis C, Raymaker D, Katz M, Oschwald M, Goe R, Leotti S, Grantham L, Plourde E, Salomon J, Hughes RB, Powers LE. {{Community-Based Participatory Research to Adapt Health Measures for Use by People With Developmental Disabilities}}. {Prog Community Health Partnersh};2015 (Summer);9(2):157-170.
BACKGROUND: People with developmental disabilities (DD) are often not included as participants in research owing to a variety of ethical and practical challenges. One major challenge is that traditional measurement instruments may not be accessible to people with DD. Participatory research approaches promise to increase the participation of marginalized communities in research, but few partnerships have successfully used such approaches to conduct quantitative studies people with DD. OBJECTIVE: To use a community-based participatory research (CBPR) approach to create an accessible, computer-assisted survey about violence and health in people with DD, and to psychometrically test adapted health instruments. METHODS: Our academic-community partnership, composed of academic researchers, people with DD, and supporters, collaboratively selected and modified data collection instruments, conducted cognitive interviews and pilot tests, and then administered the full survey to 350 people with DD. RESULTS: Although team members sometimes had opposing accommodation needs and adaptation recommendations, academic and community partners were able to work together successfully to adapt instruments to be accessible to participants with a wide range of DD. Results suggest the adapted health instruments had strong content validity and all but one had good to excellent internal consistency reliability (alpha, 0.81-0.94). The majority of participants (75%) responded that all or most of the questions were easy to understand. CONCLUSIONS: Researchers should consider using participatory approaches to adapting instruments so people with DD can be validly included in research.
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11. Nicolaidis C, Raymaker D, Katz M, Oschwald M, Goe R, Leotti S, Grantham L, Plourde E, Salomon J, Hughes RB, Powers LE. {{Community-Based Participatory Research to Adapt Health Measures for Use by People With Developmental Disabilities}}. {Prog Community Health Partnersh};2015 (Summer);9(2):141-143.
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12. 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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13. 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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14. Stefanovic S, DeMarco BA, Underwood A, Williams KR, Bassell GJ, Mihailescu MR. {{Fragile X mental retardation protein interactions with a G quadruplex structure in the 3′-untranslated region of NR2B mRNA}}. {Mol Biosyst};2015 (Sep 28)
Fragile X syndrome, the most common cause of inherited intellectual disability, is caused by a trinucleotide CGG expansion in the 5′-untranslated region of the FMR1 gene, which leads to the loss of expression of the fragile X mental retardation protein (FMRP). FMRP, an RNA-binding protein that regulates the translation of specific mRNAs, has been shown to bind a subset of its mRNA targets by recognizing G quadruplex structures. It has been suggested that FMRP controls the local protein synthesis of several protein components of the post synaptic density (PSD) in response to specific cellular needs. We have previously shown that the interactions between FMRP and mRNAs of the PSD scaffold proteins PSD-95 and Shank1 are mediated via stable G-quadruplex structures formed within the 3′-untranslated regions of these mRNAs. In this study we used biophysical methods to show that a comparable G quadruplex structure forms in the 3′-untranslated region of the glutamate receptor subunit NR2B mRNA encoding for a subunit of N-methyl-d-aspartate (NMDA) receptors that is recognized specifically by FMRP, suggesting a common theme for FMRP recognition of its dendritic mRNA targets.
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15. 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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16. Zhao XN, Kumari D, Gupta S, Wu D, Evanitsky M, Yang W, Usdin K. {{MutSbeta generates both expansions and contractions in a mouse model of the Fragile X-associated disorders}}. {Hum Mol Genet};2015 (Sep 29)
Fragile X-associated disorders are Repeat Expansion Diseases that result from expansion of a CGG/CCG-repeat in the FMR1 gene. Contractions of the repeat tract also occur, albeit at lower frequency. However, these contractions can potentially modulate disease symptoms or generate an allele with repeat numbers in the normal range. Little is known about the expansion mechanism and even less about contractions. We have previously demonstrated that the mismatch repair (MMR) protein MSH2 is required for expansions in a mouse model of these disorders. Here we show that, MSH3, the MSH2-binding partner in the MutSbeta complex, is required for 98% of germ line expansions and all somatic expansions in this model. In addition, we provide evidence for two different contraction mechanisms that operate in the mouse model, a MutSbeta-independent one that generates small contractions and a MutSbeta-dependent one that generates larger ones. We also show that MutSbeta complexes formed with the repeats have altered kinetics of ATP hydrolysis relative to complexes with bona fide MMR substrates and that MutSbeta increases the stability of the CCG-hairpins at physiological temperatures. These data may have important implications for our understanding of the mechanism(s) of repeat instability and for the role of mismatch repair proteins in this process.
