1. {{Women with Developmental Disabilities May Be at Risk Of Poor Pregnancy Outcomes}}. {Perspect Sex Reprod Health};2015 (Jun);47(2):107-108.
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2. Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Garcia-Garcia F, Duran M, Dopazo J, Estivill X, Mila M. {{Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency}}. {Gene};2015 (Jun 18)
FMR1 premutation female carriers are at risk for Fragile X-associated primary ovarian insufficiency (FXPOI). Insights from knock-in mouse model have recently demonstrated that FXPOI is due to an increased rate of follicle depletion or an impaired development of the growing follicles. Molecular mechanisms responsible for this reduced viability are still unknown. In an attempt to provide new data on the mechanisms that lead to FXPOI, we report the first investigation involving transcription profiling of total blood from FMR1 premutation female carriers with and without FXPOI. A total of 16 unrelated female individuals (6 FMR1 premutated females with FXPOI; 6 FMR1 premutated females without FXPOI; and 4 no-FXPOI females) were studied by whole human genome oligonucleotide microarray (Agilent Technologies). Fold change analysis did not show any genes with significant differential gene expression. However, functional profiling by gene set analysis showed large number of statistically significant deregulated GO annotations as well as numerous KEGG pathways in FXPOI females. These results suggest that the impairment of fertility in these females might be due to a generalized deregulation of key signaling pathways involved in oocyte maturation. In particular, the vasoendotelial growth factor signaling, the inositol phosphate metabolism, the cell cycle, and the MAPK signaling pathways were found to be down-regulated in FXPOI females. Furthermore, a high statistical enrichment of biological processes involved in cell death and survival were found deregulated among FXPOI females. Our results provide new strategic approaches to further investigate the molecular mechanisms and potential therapeutic targets for FXPOI not focused in a single gene but rather in the set of genes involved in these pathways.
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3. Bedford R, Pellicano E, Mareschal D, Nardini M. {{Flexible integration of visual cues in adolescents with autism spectrum disorder}}. {Autism Res};2015 (Jun 19)
Although children with autism spectrum disorder (ASD) show atypical sensory processing, evidence for impaired integration of multisensory information has been mixed. In this study, we took a Bayesian model-based approach to assess within-modality integration of congruent and incongruent texture and disparity cues to judge slant in typical and autistic adolescents. Human adults optimally combine multiple sources of sensory information to reduce perceptual variance but in typical development this ability to integrate cues does not develop until late childhood. While adults cannot help but integrate cues, even when they are incongruent, young children’s ability to keep cues separate gives them an advantage in discriminating incongruent stimuli. Given that mature cue integration emerges in later childhood, we hypothesized that typical adolescents would show adult-like integration, combining both congruent and incongruent cues. For the ASD group there were three possible predictions (1) « no fusion »: no integration of congruent or incongruent cues, like 6-year-old typical children; (2) « mandatory fusion »: integration of congruent and incongruent cues, like typical adults; (3) « selective fusion »: cues are combined when congruent but not incongruent, consistent with predictions of Enhanced Perceptual Functioning (EPF) theory. As hypothesized, typical adolescents showed significant integration of both congruent and incongruent cues. The ASD group showed results consistent with « selective fusion, » integrating congruent but not incongruent cues. This allowed adolescents with ASD to make perceptual judgments which typical adolescents could not. In line with EPF, results suggest that perception in ASD may be more flexible and less governed by mandatory top-down feedback. Autism Res 2015. (c) 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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4. Bergenmar J, Rosqvist HB, Lonngren AS. {{Autism and the Question of the Human}}. {Lit Med};2015;33(1):202-221.
The article explores how normative notions of emotions and interaction are active in constructions of the categories of « human » and « animal » in different discourses about autism: scientific and autobiographical. In the scientific discourse of autistic emotionality, a deficit perspective of autism is central. The general affective deficit discourse relies on normative discursive notions of « humanity » or « human emotionality. » Thus, neurotypicals are produced as real « humans » and neurotypical emotionality as « normal » human emotionality. This human normativity is challenged in the Swedish autobiographical texts by Gunilla Gerland (b. 1963), Iris Johansson (b. 1945) and Immanuel Brandemo (b. 1980). Along with American authors of autobiographies about autism, such as Temple Grandin’s Thinking in Pictures (1995) and Dawn Prince-Hughes’ Songs of the Gorilla Nation (2004) they destabilize the categories of « human » and « animal » by identifying with nonhuman animals, describing themselves as such, or feeling disqualified as real humans.
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5. Boonen H, van Esch L, Lambrechts G, Maljaars J, Zink I, Van Leeuwen K, Noens I. {{Mothers’ Parenting Behaviors in Families of School-Aged Children with Autism Spectrum Disorder: An Observational and Questionnaire Study}}. {J Autism Dev Disord};2015 (Jun 23)
Although parents of children with ASD face specific challenges in parenting, only a few studies have empirically investigated parenting behaviors among these parents. The current study examined differences in parenting behaviors between mothers of school-aged children with ASD (n = 30) and mothers of typically developing children (n = 39), using both an observational measure and a self-report questionnaire. Results indicated that mothers of children with ASD obtained significantly lower scores on Sensitivity and Provision of structure as measured during the observation. They reported significantly higher scores on Material rewarding and Adapting the environment on the questionnaire. When controlling for parenting stress, the group differences on Sensitivity and Material rewarding did not remain significant.
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6. Chandley MJ, Crawford JD, Szebeni A, Szebeni K, Ordway GA. {{Erratum to: NTRK2 expression levels are reduced in laser captured pyramidal neurons from the anterior cingulate cortex in males with autism spectrum disorder}}. {Mol Autism};2015;6:38.
[This corrects the article DOI: 10.1186/s13229-015-0023-2.].
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7. Chung W, Park S, Hong J, Lee S, Heo J, Kim D, Ko Y. {{Sevoflurane exposure during the neonatal period induces long-term memory impairment but not autism-like behaviors}}. {Paediatr Anaesth};2015 (Jun 11)
OBJECTIVE: To examine whether neonatal exposure to sevoflurane induces autism-like behaviors in mice. BACKGROUND: There are continuing reports regarding the potential negative effects of anesthesia on the developing brain. Recently, several studies suggest that neurotoxicity caused by anesthesia may lead to neurodevelopmental impairments. However, unlike reports focusing on learning and memory, there are only a few animal studies focusing on neurodevelopmental disorders after general anesthesia. Therefore, we have focused on autism, a representative neurodevelopmental disorder. METHODS: Neonatal mice (P6-7) were exposed to a titrated dose of sevoflurane for 6 h. Apoptosis was evaluated by assessing the expression level of cleaved (activated) caspase-3. Autism-like behaviors, general activity, anxiety level, and long-term memory were evaluated with multiple behavioral assays. RESULTS: Western blotting confirmed that neonatal exposure to sevoflurane increased the expression level of activated caspase-3, indicative of apoptosis. Mice exposed to sevoflurane also showed impaired long-term memory in fear tests. However, sevoflurane-exposed mice did not exhibit autism-like features in all of the following assays: social interaction (three-chamber test, caged social interaction), social communication (ultrasonic vocalization test), or repetitive behavior (self-grooming test, digging). There were also no differences in general activity (open field test, home cage activity) and anxiety (open field test, light-dark box) after sevoflurane exposure. CONCLUSIONS: Our results confirm previous studies that neonatal sevoflurane exposure causes neurodegeneration and long-term memory impairment in mice. However, sevoflurane did not induce autism-like features. Our study suggests that mice are more vulnerable to long-term memory deficits than autism-like behaviors after exposure to sevoflurane.
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8. Collins DT, Mannina EM, Mendonca M. {{Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review}}. {Am J Med Genet A};2015 (Jun 19)
Fragile X syndrome (FXS) is a congenital disorder caused by expansion of CGG trinucleotide repeat at the 5′ end of the fragile X mental retardation gene 1 (FMR1) on the X chromosome that leads to chromosomal instability and diminished serum levels of fragile X mental retardation protein (FMRP). Afflicted individuals often have elongated features, marfanoid habitus, macroorchidism and intellectual impairment. Evolving literature suggests the condition may actually protect from malignancy while chromosomal instability would presumably elevate the risk. Increased sensitivity to ionizing radiation should also be predicted by unstable sites within the DNA. Interestingly, in this report, we detail a patient with FXS diagnosed with acute lymphoblastic leukemia treated with induction followed by subsequent cycles of hyper-CVAD (cyclophosphamide, vincristine, doxorubicin, dexamethasone) with a complete response who then was recommended to undergo peripheral stem cell transplantation. The patient underwent total body irradiation (TBI) as a component of his conditioning regimen and despite the concern of his clinicians, developed minimal acute toxicity and successful engraftment. The pertinent literature regarding irradiation of patients with FXS is also reviewed. (c) 2015 Wiley Periodicals, Inc.
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9. Dubey I, Ropar D, Hamilton AF. {{Measuring the value of social engagement in adults with and without autism}}. {Mol Autism};2015;6:35.
BACKGROUND: Differences in social communication are commonly reported in autism spectrum condition (ASC). A recent theory attributes this to a reduced motivation to engage with others, that is, deficits in social motivation. However, there are currently few simple, direct, behavioural ways to test this claim. This study uses a new behavioural measure of social motivation to test if preferences for direct gaze and face stimuli are linked to autistic traits or an ASC diagnosis. Our novel choose-a-movie (CAM) paradigm measures the effort participants invest to see particular stimuli. This aspect of social motivation is also known as social seeking. METHODS: In experiment 1, 80 typical adults completed the CAM task and a measure of autistic traits. In experiment 2, 30 adults with ASC and 24 age/IQ-matched typical adults completed the CAM paradigm. RESULTS: The results from study one showed that typical adults prefer social stimuli over non-social, but this preference is weaker in those with higher levels of autistic traits. In study two, adults with ASC showed a significant reduction in their preference for direct gaze but little difference in their preference for faces without direct gaze. CONCLUSIONS: These data show that social motivation can be measured in a simple, direct, behavioural paradigm. Furthermore, adults with ASC prefer direct gaze less than typical adults but may not avoid faces without direct gaze. This data advance our understanding of how social motivation may differ between those with and without autism.
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10. Ebert M, Lorenzini E, Silva EF. {{Mothers of children with autistic disorder: perceptions and trajectories}}. {Rev Gaucha Enferm};2015 (Mar);36(1):49-55.
Childhood autism is characterized by severe and global impairment in several areas of human development and demands extensive care and dependence on the parents. The objective of this study was to understand the perceptions of mothers of children with autism regarding changes suffered by the child and their trajectories in search of an autism diagnosis. This is an exploratory descriptive study with a qualitative approach conducted with ten participant mothers. Data were collected in 2013 by means of semi-structured interviews. Thematic content analysis produced the following categories: perceptions of mothers as to changes in behaviour and/or development of their children; and trajectories of mothers in search of a diagnosis for their children. After the perception of changes in behaviour/development, mothers face an arduous trajectory of healthcare service utilization.
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11. Hill AP, van Santen J, Gorman K, Langhorst BH, Fombonne E. {{Memory in language-impaired children with and without autism}}. {J Neurodev Disord};2015;7(1):19.
BACKGROUND: A subgroup of young children with autism spectrum disorders (ASD) have significant language impairments (phonology, grammar, vocabulary), although such impairments are not considered to be core symptoms of and are not unique to ASD. Children with specific language impairment (SLI) display similar impairments in language. Given evidence for phenotypic and possibly etiologic overlap between SLI and ASD, it has been suggested that language-impaired children with ASD (ASD + language impairment, ALI) may be characterized as having both ASD and SLI. However, the extent to which the language phenotypes in SLI and ALI can be viewed as similar or different depends in part upon the age of the individuals studied. The purpose of the current study is to examine differences in memory abilities, specifically those that are key « markers » of heritable SLI, among young school-age children with SLI, ALI, and ALN (ASD + language normal). METHODS: In this cross-sectional study, three groups of children between ages 5 and 8 years participated: SLI (n = 18), ALI (n = 22), and ALN (n = 20). A battery of cognitive, language, and ASD assessments was administered as well as a nonword repetition (NWR) test and measures of verbal memory, visual memory, and processing speed. RESULTS: NWR difficulties were more severe in SLI than in ALI, with the largest effect sizes in response to nonwords with the shortest syllable lengths. Among children with ASD, NWR difficulties were not associated with the presence of impairments in multiple ASD domains, as reported previously. Verbal memory difficulties were present in both SLI and ALI groups relative to children with ALN. Performance on measures related to verbal but not visual memory or processing speed were significantly associated with the relative degree of language impairment in children with ASD, supporting the role of verbal memory difficulties in language impairments among early school-age children with ASD. CONCLUSIONS: The primary difference between children with SLI and ALI was in NWR performance, particularly in repeating two- and three-syllable nonwords, suggesting that shared difficulties in early language learning found in previous studies do not necessarily reflect the same underlying mechanisms.
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12. Howe YJ, O’Rourke JA, Yatchmink Y, Viscidi EW, Jones RN, Morrow EM. {{Female Autism Phenotypes Investigated at Different Levels of Language and Developmental Abilities}}. {J Autism Dev Disord};2015 (Jun 23)
This study investigated the differences in clinical symptoms between females and males with autism spectrum disorder (ASD) across three verbal ability groups (nonverbal, phrase and fluent speech), based on which Autism Diagnostic Observation Schedule module was administered to 5723 individuals in four research datasets. In the Simons Simplex Collection and Autism Treatment Network, females with ASD and phrase or fluent speech had lower cognitive, adaptive, and social abilities than males. In the Autism Genetics Resource Exchange and the Autism Consortium, females with phrase or fluent speech had similar or better adaptive and social abilities than males. Females who were nonverbal had similar cognitive, adaptive, and social abilities as males. Population-based longitudinal studies of verbally fluent females with ASD are needed.
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13. Kobayashi T, Hirano Y, Nemoto K, Sutoh C, Ishikawa K, Miyata H, Matsumoto J, Matsumoto K, Masuda Y, Nakazato M, Shimizu E, Nakagawa A. {{Correlation between Morphologic Changes and Autism Spectrum Tendency in Obsessive-Compulsive Disorder}}. {Magn Reson Med Sci};2015 (Jun 23)
OBJECTIVES: Obsessive-compulsive disorder (OCD) is one of the most debilitating psychiatric disorders, with some speculating that a reason for difficulty in its treatment might be its coexistence with autism spectrum. We investigated the tendency for autistic spectrum disorders (ASD) in patients with OCD from a neuroimaging point of view using voxel-based morphometry. METHODS: We acquired T1-weighted images from 20 patients with OCD and 30 healthy controls and investigated the difference in regional volume between the groups as well as the correlation between Autism-Spectrum Quotient (AQ) scores and regional cerebral volumes of patients with OCD. RESULTS: Volumes in the bilateral middle frontal gyri were significantly decreased in patients with OCD compared to controls. Correlational analysis showed significant positive correlations between AQ scores and regional gray matter (GM) volumes in the left dorsolateral prefrontal cortex (DLPFC) and left amygdala. Furthermore, GM volumes of these regions were positively correlated with each other. CONCLUSIONS: The positive correlation of ASD traits in patients with OCD with regional GM volumes in the left DLPFC and amygdala could reflect the heterogeneity of patient symptoms. Our results suggest that differences in GM volume might allow classification of patients with OCD for appropriate therapy based on their particular traits.
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14. Lor L, Hill K, Jacoby P, Leonard H, Downs J. {{A validation study of a modified Bouchard activity record that extends the concept of ‘uptime’ to Rett syndrome}}. {Dev Med Child Neurol};2015 (Jun 23)
AIM: The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical activity, as compared with pragmatic criterion standard measures of walking status and step counts recorded using the StepWatch activity monitor (SAM). METHOD: During the waking hours of 1 day, 43 females (mean age 21y, SD 9y) wore a SAM whilst a proxy completed a modified BAR. Responses to the BAR were compared among participants, who were grouped according to walking status, using the Mann-Whitney two-sample rank-sum test. Relationships were sought between BAR responses and step counts using linear regression. RESULTS: According to the proxy-reported BAR responses, those who needed assistance with walking spent more time sitting (median [interquartile range] 9h 15min [8h 8min-10h 30min] vs 6h 15min [4h 15min-8h 30min]; p<0.001) and less time standing (1h [38min-1h 30min] vs 2h 15min [45min-3h 45min]; p=0.04) than those who could walk independently. In those who could walk independently, time classified as ‘uptime’ (standing and walking) using the BAR was associated with increased step count (r2 =0.58; p<0.001). INTERPRETATION: These data support the validity of proxy-reported BAR responses. In those who could walk independently, uptime, classified using the BAR, could be used to estimate daily step count. This tool offers an inexpensive method for clinicians to gain insights into physical activity levels in individuals with Rett syndrome.
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15. Nordahl CW, Iosif AM, Young GS, Perry LM, Dougherty R, Lee A, Li D, Buonocore MH, Simon T, Rogers S, Wandell B, Amaral DG. {{Erratum: Sex differences in the corpus callosum in preschool-aged children with autism spectrum disorder}}. {Mol Autism};2015;6:39.
[This corrects the article DOI: 10.1186/s13229-015-0005-4.].
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16. Tranfaglia MR. {{GABA and Glutamate: The Yin and Yang of Fragile X}}. {Cell Cycle};2015 (Jun 23):0.
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17. Turi M, Burr DC, Igliozzi R, Aagten-Murphy D, Muratori F, Pellicano E. {{Children with autism spectrum disorder show reduced adaptation to number}}. {Proc Natl Acad Sci U S A};2015 (Jun 23);112(25):7868-7872.
Autism is known to be associated with major perceptual atypicalities. We have recently proposed a general model to account for these atypicalities in Bayesian terms, suggesting that autistic individuals underuse predictive information or priors. We tested this idea by measuring adaptation to numerosity stimuli in children diagnosed with autism spectrum disorder (ASD). After exposure to large numbers of items, stimuli with fewer items appear to be less numerous (and vice versa). We found that children with ASD adapted much less to numerosity than typically developing children, although their precision for numerosity discrimination was similar to that of the typical group. This result reinforces recent findings showing reduced adaptation to facial identity in ASD and goes on to show that reduced adaptation is not unique to faces (social stimuli with special significance in autism), but occurs more generally, for both parietal and temporal functions, probably reflecting inefficiencies in the adaptive interpretation of sensory signals. These results provide strong support for the Bayesian theories of autism.
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18. Wang J, Tao Y, Song F, Sun Y, Ott J, Saffen D. {{Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism}}. {Ann Hum Genet};2015 (Jun 19)
Based on the analysis of mRNA expression and genotype data from the « Brain Cloud » database, we identified seven SNPs within or near the autism candidate gene CYFIP1 that show nominally significant correlations between genotype and CYFIP1 mRNA expression in human dorsolateral prefrontal cortex. Analysis of transmission disequilibrium test (TDT) odds ratios (ORs) for these SNPs in a large Autism Genome Project (AGP) trio-based association study revealed the high-expression alleles of four of these SNPs (rs8028440, rs2289823, rs7403800 and rs3751566) to be susceptibility alleles. Correlations between the regression coefficients for mRNA expression and log10 -transformed TDT ORs were statistically significant [P = 0.008 (ASD); P = 0.002 (classical autism)]. Similarly, statistically significant correlations were obtained between levels of CYFIP1 mRNA expression predicted using the regression equations obtained from multiple linear regression analysis and log10 -transformed TDT ORs for specific combinations of genotypes for both ASD (rs2289823 + rs3751566: P = 0.008) and classical autism (rs2289823 + rs3751566: P = 0.008; rs2289823 + rs3751566 + rs765763: P = 0.0006) diagnoses. Together, these results support the hypothesis that high expression of CYFIP1 mRNA increases susceptibility for both ASD and classical autism.
