Pubmed du 12/04/17

mercredi 12 avril 2017

1. Barnett JP. Intersectional harassment and deviant embodiment among Autistic adults : (dis)ability, gender and sexuality. Cult Health Sex ;2017 (Apr 12):1-15.

Harassment scholarship increasingly attends to the intersectional nature of harassment and its function within systems of domination. However, little of this work includes disability. In-depth interviews with 24 adults on the autism spectrum in the USA demonstrate the intersections of gender, sexuality and (dis)ability in the construction of deviant embodiments as targets for harassment. These intersections also shape how participants made sense of these experiences of violence. Participants’ disability characteristics were often read as gender or sexual variance, with harassers relying on sexist and heterosexist constructs to frighten, demean or humiliate them for disability characteristics. Participant experiences demonstrate the cisgender basis of ’able-bodied’ identity as well as the ’able-bodied’ basis of cisgender and heterosexual identities and experiences. The interdependency of gender, sexuality and (dis)ability embodiment point to how it is critical for scholars and activists to account for the role of gender and heterosexist harassment in ableist oppression and disability harassment in (hetero)sexist oppression, as well as the limits of current US law enforcement structures in providing redress for harassment.

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2. Ben-Itzchak E, Kirzon M, Peled N, Zachor DA. Coherence and content of relating emotions to life events in autism spectrum disorder and typical development : a cross-sectional age study. J Abnorm Child Psychol ;2017 (Apr 12)

Understanding one’s own emotions is an important part of social-emotional development in early childhood. Few studies have looked at the ability of children with autism spectrum disorder (ASD) to relate their own emotions to previous life events. Our previous study showed that the description of events that elicited specific emotions is qualitatively and quantitatively different in ASD in comparison to typically developing (TD) pre-adolescents. The current study evaluated differences in coherence and content of responses to questions on emotions in ASD and TD in two age groups. The evaluation was based on the section on Emotions of the Autism Diagnostic Observation Schedule Module 3 test. The study included 96 boys, 48 diagnosed with ASD (IQ>/=85) and 48 TD children, divided into younger (6:0-8:0y) and older (8:2-11:0y) groups. Young TD children were able to give coherent responses to questions on experiences that evoked basic emotions. Children with ASD gave fewer coherent responses and more ’no response’ and ’odd’ responses across the examined age range. Only in the TD group was the level of vocabulary associated with the number of coherent statements. TD children gave more responses with content related to interpersonal relationships, self-awareness and social events than children with ASD. Deficits in coherence and content of responses to questions on emotions related to previous life events derive from the core deficits of ASD. The significant quantitative and qualitative gap that exists between ASD and TD may be useful during the diagnostic process of ASD in childhood.

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3. Bidet-Caulet A, Latinus M, Roux S, Malvy J, Bonnet-Brilhault F, Bruneau N. Atypical sound discrimination in children with ASD as indicated by cortical ERPs. J Neurodev Disord ;2017 ;9:13.

BACKGROUND : Individuals with autism spectrum disorder (ASD) show a relative indifference to the human voice. Accordingly, and contrarily to their typically developed peers, adults with autism do not show a preferential response to voices in the superior temporal sulcus ; this lack of voice-specific response was previously linked to atypical processing of voices. In electroencephalography, a slow event-related potential (ERP) called the fronto-temporal positivity to voice (FTPV) is larger for vocal than for non-vocal sounds, resulting in a voice-sensitive response over right fronto-temporal sites. Here, we investigated the neurophysiological correlates of voice perception in children with and without ASD. METHODS : Sixteen children with autism and 16 age-matched typically developing children heard vocal (speech and non-speech) and non-vocal sounds while their electroencephalographic activity was recorded ; overall IQ was smaller in the group of children with ASD. ERP amplitudes were compared using non-parametric statistical tests at each electrode and in successive 20-ms time windows. Within each group, differences between conditions were assessed using a non-parametric Quade test between 0 and 400 ms post-stimulus. Inter-group comparisons of ERP amplitudes were performed using non-paired Kruskal-Wallis tests between 140 and 180 ms post-stimulus. RESULTS : Typically developing children showed the classical voice-sensitive response over right fronto-temporal electrodes, for both speech and non-speech vocal sounds. Children with ASD did not show a preferential response to vocal sounds. Inter-group analysis showed no difference in the processing of vocal sounds, both speech and non-speech, but significant differences in the processing of non-vocal sounds over right fronto-temporal sites. CONCLUSIONS : Our results demonstrate a lack of voice-preferential response in children with autism spectrum disorders. In contrast to observations in adults with ASD, the lack of voice-preferential response was attributed to an atypical response to non-vocal sounds, which was overall more similar to the event-related potentials evoked by vocal sounds in both groups. This result suggests atypical maturation processes in ASD impeding the specialization of temporal regions in voice processing.

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4. Connon P, Larner AJ. Fragile X-associated tremor/ataxia syndrome : cognitive presentations. Br J Hosp Med (Lond) ;2017 (Apr 02) ;78(4):230-231.

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5. Franchini M, Wood de Wilde H, Glaser B, Gentaz E, Eliez S, Schaer M. Corrigendum : Brief Report : A Preference for Biological Motion Predicts a Reduction in Symptom Severity 1 Year Later in Preschoolers with Autism Spectrum Disorders. Front Psychiatry ;2017 ;8:58.

[This corrects the article on p. 143 in vol. 7, PMID : 27605914.].

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6. Gillberg C, Fernell E, Kocovska E, Minnis H, Bourgeron T, Thompson L, Allely CS. The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders : A hypothesis paper. Autism Res ;2017 (Apr 12)

Based on evidence from the relevant research literature, we present a hypothesis that there may be a link between cholesterol, vitamin D, and steroid hormones which subsequently impacts on the development of at least some of the "autisms" [Coleman & Gillberg]. Our hypothesis, driven by the peer reviewed literature, posits that there may be links between cholesterol metabolism, which we will refer to as "steroid metabolism" and findings of steroid abnormalities of various kinds (cortisol, testosterone, estrogens, progesterone, vitamin D) in autism spectrum disorder (ASD). Further research investigating these potential links is warranted to further our understanding of the biological mechanisms underlying ASD. Autism Res 2017. (c) 2017 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

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7. Hunihan L, Brown J, Cacace A, Fernandes A, Weston A. Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line. Stem Cell Res ;2017 (Apr) ;20:67-69.

Human fibroblast cells collected from a 3-year old, female Rett Syndrome patient with a 32bp deletion in the X-linked MECP2 gene were obtained from the Coriell Institute. Fibroblasts were reprogrammed to iPSC cells using a Sendai-virus delivery system expressing human KOSM transcription factors. Cell-line pluripotency was demonstrated by gene expression, immunocytochemistry, in-vitro differentiation trilineage capacity and was of normal karyotype. Interestingly, subsequent clones retained the epigenetic memory of the parent fibroblasts allowing for the segregation of wild-type and mutant expressing clones. This MECP2 mutant expressing clone may serve as a model for investigating MECP2 reactivation in Rett’s Syndrome.

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8. Irimia A, Torgerson CM, Jacokes ZJ, Van Horn JD. The connectomes of males and females with autism spectrum disorder have significantly different white matter connectivity densities. Sci Rep ;2017 (Apr 11) ;7:46401.

Autism spectrum disorder (ASD) encompasses a set of neurodevelopmental conditions whose striking sex-related disparity (with an estimated male-to-female ratio of 4:1) remains unknown. Here we use magnetic resonance imaging (MRI) and diffusion weighted imaging (DWI) to identify the brain structure correlates of the sex-by-ASD diagnosis interaction in a carefully selected cohort of 110 ASD patients (55 females) and 83 typically-developing (TD) subjects (40 females). The interaction was found to be predicated primarily upon white matter connectivity density innervating, bilaterally, the lateral aspect of the temporal lobe, the temporo-parieto-occipital junction and the medial parietal lobe. By contrast, regional gray matter (GM) thickness and volume are not found to modulate this interaction significantly. When interpreted in the context of previous studies, our findings add considerable weight to three long-standing hypotheses according to which the sex disparity of ASD incidence is (A) due to WM connectivity rather than to GM differences, (B) modulated to a large extent by temporoparietal connectivity, and (C) accompanied by brain function differences driven by these effects. Our results contribute substantially to the task of unraveling the biological mechanisms giving rise to the sex disparity in ASD incidence, whose clinical implications are significant.

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9. Jones RM, Carberry C, Hamo A, Lord C. Placebo-like response in absence of treatment in children with Autism. Autism Res ;2017 (Apr 12)

Caregiver report is the most common measure of change in pediatric psychiatry. Yet, placebo response rates pose significant challenges to reliably detect a treatment response. The present study simulated an eight-week clinical trial protocol for Autism Spectrum Disorder (ASD) for the purpose of testing the feasibility and validity of several outcome measures. Twenty caregivers answered questions about their child’s behavior on their smartphone each week and completed a battery of paper questionnaires during weeks one and eight. No treatment was administered. Caregivers reported a significant decrease in problem behaviors on the Aberrant Behavior Checklist (ABC) (29% decrease) and general ASD behaviors on the Social Responsiveness Scale (SRS) (7% decrease). There was also a trend of behavior improvement from smartphone questions but no significant changes in clinical ratings of core diagnostic features of ASD. Participation in a comprehensive protocol in the absence of a particular treatment significantly influenced how caregivers perceived the severity of their children’s problem behaviors. These placebo-like effects represent substantial challenges for randomized controlled trials (RCTs) that use treatment as usual and have implications for future behavioral and pharmacological treatment trial designs. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.

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10. Kocovska E, Gaughran F, Krivoy A, Meier UC. Vitamin-D Deficiency As a Potential Environmental Risk Factor in Multiple Sclerosis, Schizophrenia, and Autism. Front Psychiatry ;2017 ;8:47.

In this short review, we want to summarize the current findings on the role of vitamin-D in multiple sclerosis (MS), schizophrenia, and autism. Many studies have highlighted hypovitaminosis-D as a potential environmental risk factor for a variety of conditions such as MS, asthma, cardiovascular disease, and, more recently, psychiatric diseases. However, whether hypovitaminosis-D is a potential causative factor for the development or activity in these conditions or whether hypovitaminosis-D may be due to increased vitamin-D consumption by an activated immune system (reverse causation) is the focus of intense research. Here, we will discuss current evidence exploring the role of vitamin-D in MS, schizophrenia, and autism and its impact on adaptive and innate immunity, antimicrobial defense, the microbiome, neuroinflammation, behavior, and neurogenesis. More work is needed to gain insight into its role in the underlying pathophysiology of these conditions as it may offer attractive means of intervention and prevention.

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11. Liu S, Zhou L, Yuan H, Vieira M, Sanz-Clemente A, Badger JD, 2nd, Lu W, Traynelis SF, Roche KW. A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density. J Neurosci ;2017 (Apr 12) ;37(15):4093-4102.

NMDA receptors (NMDARs) are ionotropic glutamate receptors that are crucial for neuronal development and higher cognitive processes. NMDAR dysfunction is involved in a variety of neurological and psychiatric diseases ; however, the mechanistic link between the human pathology and NMDAR dysfunction is poorly understood. Rare missense variants within NMDAR subunits have been identified in numerous patients with mental or neurological disorders. We specifically focused on the GluN2B NMDAR subunit, which is highly expressed in the hippocampus and cortex throughout development. We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins. In addition, we observed a deficit in surface expression for GluN2B S1413L. Furthermore, there were fewer dendritic spines in GluN2B S1413L-expressing neurons. Importantly, synaptic NMDAR currents in neurons transfected with GluN2B S1413L in GluN2A/B-deficient mouse brain slices revealed only partial rescue of synaptic current amplitude. Functional properties of GluN2B S1413L in recombinant systems revealed no change in receptor properties, consistent with synaptic defects being the result of reduced trafficking and targeting of GluN2B S1413L to the synapse. Therefore, we find that GluN2B S1413L displays deficits in NMDAR trafficking, synaptic currents, and spine density, raising the possibility that this mutation may contribute to the phenotype in this autism patient. More broadly, our research demonstrates that the targeted study of certain residues in NMDARs based on rare variants identified in patients is a powerful approach to studying receptor function.SIGNIFICANCE STATEMENT We have used a "bedside-to-bench" approach to investigate the functional regulation of NMDA receptors (NMDARs). Using information from deep sequencing of patients with neurological or psychiatric disorders, we investigated missense variants identified in the intracellular C-terminal domain of the GluN2B NMDAR subunit. We found several variants that displayed altered properties. In particular, one variant identified in a patient with autism, human GluN2B S1415L, displayed reduced surface expression and binding to PSD-95. Furthermore expression of GluN2B S1415L (S1413L in mouse) showed a deficit in rescue of synaptic NMDAR currents and fewer dendritic spines, consistent with other reports of spine abnormalities being associated with autism. More broadly, we demonstrate that using patient data is an effective approach to probing the structure/function relationship of NMDARs.

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12. Mohammad Nijres B, Al-Kubaisi M, Bokowski J, Abdulla RI, Awad S. Coronary Sinus Defect Following Transcatheter Closure of ASD Using Amplatzer Septal Occluder : Potential Erosion by the Device. Pediatr Cardiol ;2017 (Apr 10)

We present a case of small coronary sinus defect detected after transcatheter device closure of a large secundum atrial septal defect. Although device erosion of the dilated coronary sinus is suspected, the defect in the coronary sinus may have been present prior to ASD device closure. Dilated coronary sinus may be a risk factor when closing a secundum ASD with a device. To the best of our knowledge, coronary sinus erosion by an ASD device has not yet been reported in the medical literature.

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13. Montiel-Nava C, Chacin JA, Gonzalez-Avila Z. Age of diagnosis of autism spectrum disorder in Latino children : The case of Venezuelan children. Autism ;2017 (Apr 01):1362361317701267.

Latino children are diagnosed with autism spectrum disorder later in life, usually with more severe symptoms, and lower IQs, compared with non-Latino children. Possible reasons for such disparities could be due to lower levels of parent education, lower socioeconomic status, limited knowledge of parents about autism spectrum disorder, and diminished health-care knowledge. The goal of the study was to describe the age of parental concerns and at first autism spectrum disorder diagnosis, and factors associated with age at the first diagnosis in a sample of Venezuelan children. Diagnostic and demographic data were collected from 103 children between 2 and 7 years of age. Although the mean age of first concerns was 17 months, the age of diagnosis varied from 53.03 months for the Pervasive Developmental Disorders-Not Otherwise specified group to 54.38 months for the autism group. Although parents were aware of developmental difficulties before the second year of life, their children were diagnosed 36 months later. In Latin cultures, behavior problems are usually attributed to poor parenting skills, so parents might take longer to seek professional help. A better understanding of cultural influences on age of diagnosis will translate to quicker use of services independent of ethnicity.

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14. Planerova A, Philip S, Elad S. Gingival bleeding in a patient with autism spectrum disorder : A key finding leading to a diagnosis of scurvy. Quintessence Int ;2017 ;48(5):407-411.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that can affect all aspects of life, including nutrition. This case reports a patient with ASD in which gingival bleeding was the key finding that led to a diagnosis of scurvy. The literature review discusses behavioral food aversions in patients with ASD that lead to significant nutritional deficiencies, such as scurvy. Through this case report, the objective is to raise clinical awareness to consider relatively rare diseases in patients with ASD who have atypical feeding patterns.

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15. Post SG, Pomeroy J, Keirns C, Cover VI, Dorn ML. A Grassroots Community Dialogue on the Ethics of the Care of People with Autism and Their Families : The Stony Brook Guidelines. HEC Forum ;2017 (Apr 10)

The increased recognition and reported prevalence of autism spectrum disorders (ASD) combined with the associated societal and clinical impact call for a broad grassroots community-based dialogue on treatment related ethical and social issues. In these Stony Brook Guidelines, which were developed during a full year of community dialogue (2010-2011) with affected individuals, families, and professionals in the field, we identify and discuss topics of paramount concern to the ASD constituency : treatment goals and happiness, distributive justice, managing the desperate hopes for a cure, sibling responsibilities, intimacy and sex, diagnostic ethics, and research ethics. The members of the dialogue core committee included doctors, ethicists, administrators, social workers, ministers, disability experts, and many family members of individuals with autism who were especially engaged in community activities on behalf of their constituency, including siblings, parents, and grandparents. Our guidelines are not based on "top-down" imposition of professional expertise, but rather on a "bottom-up" grass roots attention to the voices of affected individuals and families speaking from experience. These guidelines can inform clinical practice, but they also are meaningful for the wider social conversation emerging over the treatment of individuals with ASD.

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16. Shuffrey LC, Guter SJ, Delaney S, Jacob S, Anderson GM, Sutcliffe JS, Cook EH, Veenstra-VanderWeele J. Is there sexual dimorphism of hyperserotonemia in autism spectrum disorder ?. Autism Res ;2017 (Apr 12)

Approximately 30% of individuals with autism spectrum disorder (ASD) have elevated whole blood serotonin (5-HT) levels. Genetic linkage and association studies of ASD and of whole blood 5-HT levels as a quantitative trait have revealed sexual dimorphism. Few studies have examined the presence of a sex difference on hyperserotonemia within ASD. To assess whether the rate of hyperserotonemia is different in males than in females with ASD, we measured whole blood 5-HT levels in 292 children and adolescents with ASD, the largest sample in which this biomarker has been assessed. Based upon previous work suggesting that hyperserotonemia is more common prior to puberty, we focused our analysis on the 182 pre-pubertal children with ASD. 42% of pre-pubertal participants were within the hyperserotonemia range. In this population, we found that males were significantly more likely to manifest hyperserotonemia than females (P = 0.03). As expected, no significant difference was found in the post-pubertal population. Additional work will be needed to replicate this intriguing finding and to understand whether it could potentially explain differences in patterns of ASD risk between males and females. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.

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17. Zeestraten EA, Gudbrandsen MC, Daly E, de Schotten MT, Catani M, Dell’Acqua F, Lai MC, Ruigrok AN, Lombardo MV, Chakrabarti B, Baron-Cohen S, Ecker C, Murphy DG, Craig MC. Sex differences in frontal lobe connectivity in adults with autism spectrum conditions. Transl Psychiatry ;2017 (Apr 11) ;7(4):e1090.

Autism spectrum conditions (ASC) are more prevalent in males than females. The biological basis of this difference remains unclear. It has been postulated that one of the primary causes of ASC is a partial disconnection of the frontal lobe from higher-order association areas during development (that is, a frontal ’disconnection syndrome’). Therefore, in the current study we investigated whether frontal connectivity differs between males and females with ASC. We recruited 98 adults with a confirmed high-functioning ASC diagnosis (61 males : aged 18-41 years ; 37 females : aged 18-37 years) and 115 neurotypical controls (61 males : aged 18-45 years ; 54 females : aged 18-52 years). Current ASC symptoms were evaluated using the Autism Diagnostic Observation Schedule (ADOS). Diffusion tensor imaging was performed and fractional anisotropy (FA) maps were created. Mean FA values were determined for five frontal fiber bundles and two non-frontal fiber tracts. Between-group differences in mean tract FA, as well as sex-by-diagnosis interactions were assessed. Additional analyses including ADOS scores informed us on the influence of current ASC symptom severity on frontal connectivity. We found that males with ASC had higher scores of current symptom severity than females, and had significantly lower mean FA values for all but one tract compared to controls. No differences were found between females with or without ASC. Significant sex-by-diagnosis effects were limited to the frontal tracts. Taking current ASC symptom severity scores into account did not alter the findings, although the observed power for these analyses varied. We suggest these findings of frontal connectivity abnormalities in males with ASC, but not in females with ASC, have the potential to inform us on some of the sex differences reported in the behavioral phenotype of ASC.

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18. Zuckerman KE, Friedman NDB, Chavez AE, Shui AM, Kuhlthau KA. Parent-Reported Severity and Health/Educational Services Use Among US Children with Autism : Results from a National Survey. J Dev Behav Pediatr ;2017 (Apr 12)

OBJECTIVE : Little national data exist regarding service use patterns for children with autism spectrum disorder (ASD) of varying severity. This study aimed to assess the relationship between parent-reported severity and use of educational and health care services. METHODS : Data from the 2011 Survey of Pathways to Diagnosis and Services were used to examine a nationally representative sample of 1420 US children aged 6 to 17 years with ASD, with or without developmental delay and intellectual disability. Weighted multivariable logistic regression assessed associations of parent-reported ASD severity and child sociodemographic characteristics with school-based therapy, non-school-based therapy, behavioral interventions, and specialty provider visits. RESULTS : Higher parent-reported ASD severity was associated with increased likelihood of current use of school-based therapy (adjusted odds ratio [AOR] = 4.08, 95% confidence interval =1.85-8.98), non-school-based therapy (AOR = 3.60 [1.95-6.66]), and behavioral interventions (AOR = 2.30 [1.22-4.34]), as well as regular specialty provider visits (AOR = 2.99 [1.38-6.46]). Although rates of service use were generally highest among children with severe ASD, non-school-based therapy and behavioral interventions were only used by about half of children with severe ASD, and about 1 in 4 children with mild ASD were using none of the therapies asked about. CONCLUSION : Parent-reported severity is associated with increased therapy and specialty provider service use among children with ASD. However, substantial variability exists in service use across levels of severity.

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