1. {{International Society for Autism Research News}}. {Autism Res};2015 (Jun);8(3):355.
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2. 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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3. 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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4. Gumuslu KE, Savli H, Sunnetci D, Cine N, Kara B, Eren Keskin S, Akkoyunlu RU. {{A CGH array study in nonsyndromic (primary) autism patients: deletions on 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1}}. {Turk J Med Sci};2015;45(2):313-319.
BACKGROUND/AIM: To detect specific molecular changes of DNA level in primary autism patients by using whole genome CGH array technology. MATERIALS AND METHODS: A cohort of 35 primary autism patients received clinical genetic testing by using an oligonucleotide-based CGH array platform to test for submicroscopic genomic deletions and duplications. Fluorescent in situ hybridization was performed in seven patients for confirmation of the results. RESULTS: We found 16p13.11 deletion in thirteen patients, 16p11.2 deletion in twelve patients, 1q21.1 deletion in ten patients, 2q21.1q21.2 deletion in eight patients, and 8p23.1 deletion in seven patients. CONCLUSION: Our study indicates that genes in 16p13.11, 16p11.2, 1q21.1, 2q2l.1q21.2, and 8p23.1 loci are potential predisposition and new suspicious regions for primary autism. Deletion’s in these regions should be investigated in further studies to understand pathogenesis of primary autism.
5. Jamnadass ES, Keelan JA, Hollier LP, Hickey M, Maybery MT, Whitehouse AJ. {{The perinatal androgen to estrogen ratio and autistic-like traits in the general population: a longitudinal pregnancy cohort study}}. {J Neurodev Disord};2015;7(1):17.
BACKGROUND: Prenatal androgen exposure has been hypothesized to be linked to autism spectrum disorder (ASD). While previous studies have found a link between testosterone levels in amniotic fluid and autistic-like traits, a similar relationship has not been found for testosterone in umbilical cord blood. However, it may be the net biological activity of multiple androgens and estrogens that influences postnatal effects of prenatal sex steroids. Accordingly, composite levels of androgens (A) and estrogens (E) were investigated, along with their ratio, in relation to autistic-like traits in young adulthood. METHODS: Sex steroid data in umbilical cord blood were available from 860 individuals at delivery. Samples were analyzed for androgens (testosterone, androstenedione, and dehydroepiandrosterone) and estrogens (estrone, estradiol, estriol, and estetrol). Levels of bioavailable testosterone, estradiol, and estrone were measured and used to calculate A and E composites and the A to E ratio. Participants were approached in early adulthood to complete the autism-spectrum quotient (AQ) as a self-report measure of autistic-like traits, with 183 males (M = 20.10 years, SD = 0.65 years) and 189 females (M =19.92 years, SD = 0.68 years) providing data. RESULTS: Males exhibited significantly higher androgen composites and A to E composite ratios than females. Males also scored significantly higher on the details/patterns subscale of the AQ. Subsequent categorical and continuous analyses, which accounted for covariates, revealed no substantial relationships between the A/E composites or the A to E ratio and the AQ total or subscale scores. CONCLUSIONS: The current study found no link between the A/E composites or the A to E ratio in cord blood and autistic-like traits in the population as measured by the AQ. These outcomes do not exclude the possibility that these sex steroid variables may predict other neurodevelopmental traits in early development.
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6. Lumish HS, Wynn J, Devinsky O, Chung WK. {{Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy}}. {J Autism Dev Disord};2015 (Jun 18)
Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2.
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7. Miller KK. {{The Autism Paradox}}. {AMA J Ethics};2015 (Apr);17(4):297-298.
8. Nazneen N, Rozga A, Smith CJ, Oberleitner R, Abowd GD, Arriaga RI. {{A Novel System for Supporting Autism Diagnosis Using Home Videos: Iterative Development and Evaluation of System Design}}. {JMIR Mhealth Uhealth};2015;3(2):e68.
BACKGROUND: Observing behavior in the natural environment is valuable to obtain an accurate and comprehensive assessment of a child’s behavior, but in practice it is limited to in-clinic observation. Research shows significant time lag between when parents first become concerned and when the child is finally diagnosed with autism. This lag can delay early interventions that have been shown to improve developmental outcomes. OBJECTIVE: To develop and evaluate the design of an asynchronous system that allows parents to easily collect clinically valid in-home videos of their child’s behavior and supports diagnosticians in completing diagnostic assessment of autism. METHODS: First, interviews were conducted with 11 clinicians and 6 families to solicit feedback from stakeholders about the system concept. Next, the system was iteratively designed, informed by experiences of families using it in a controlled home-like experimental setting and a participatory design process involving domain experts. Finally, in-field evaluation of the system design was conducted with 5 families of children (4 with previous autism diagnosis and 1 child typically developing) and 3 diagnosticians. For each family, 2 diagnosticians, blind to the child’s previous diagnostic status, independently completed an autism diagnosis via our system. We compared the outcome of the assessment between the 2 diagnosticians, and between each diagnostician and the child’s previous diagnostic status. RESULTS: The system that resulted through the iterative design process includes (1) NODA smartCapture, a mobile phone-based application for parents to record prescribed video evidence at home; and (2) NODA Connect, a Web portal for diagnosticians to direct in-home video collection, access developmental history, and conduct an assessment by linking evidence of behaviors tagged in the videos to the Diagnostic and Statistical Manual of Mental Disorders criteria. Applying clinical judgment, the diagnostician concludes a diagnostic outcome. During field evaluation, without prior training, parents easily (average rating of 4 on a 5-point scale) used the system to record video evidence. Across all in-home video evidence recorded during field evaluation, 96% (26/27) were judged as clinically useful, for performing an autism diagnosis. For 4 children (3 with autism and 1 typically developing), both diagnosticians independently arrived at the correct diagnostic status (autism versus typical). Overall, in 91% of assessments (10/11) via NODA Connect, diagnosticians confidently (average rating 4.5 on a 5-point scale) concluded a diagnostic outcome that matched with the child’s previous diagnostic status. CONCLUSIONS: The in-field evaluation demonstrated that the system’s design enabled parents to easily record clinically valid evidence of their child’s behavior, and diagnosticians to complete a diagnostic assessment. These results shed light on the potential for appropriately designed telehealth technology to support clinical assessments using in-home video captured by families. This assessment model can be readily generalized to other conditions where direct observation of behavior plays a central role in the assessment process.
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9. Obeid R, Daou N, DeNigris D, Shane-Simpson C, Brooks PJ, Gillespie-Lynch K. {{A Cross-Cultural Comparison of Knowledge and Stigma Associated with Autism Spectrum Disorder Among College Students in Lebanon and the United States}}. {J Autism Dev Disord};2015 (Jun 18)
Although misconceptions associated with ASD are apparent worldwide, they may differ across cultures. This study compares knowledge and stigma associated with ASD in a country with limited autism resources, Lebanon, and a country with substantial autism resources, the United States (US). College students in the US (N = 346) and Lebanon (N = 329) completed assessments of knowledge and stigma associated with ASD before and after an online ASD training. Although students in the US exhibited higher overall knowledge and lower stigma towards ASD, certain misconceptions were more apparent in the US than in Lebanon. Participation in the training was associated with decreased stigma and increased knowledge in both countries. Thus, online training may be useful for increasing understanding about ASD internationally.
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10. Solomon O, Angell AM, Yin L, Lawlor MC. {{‘You can turn off the light if you’d like’: Pediatric Healthcare Visits for Children with Autism Spectrum Disorder as an Interactional Achievement}}. {Med Anthropol Q};2015 (Jun 18)
Autism spectrum disorder (ASD, American Psychiatric Association 2013) is defined in biomedicine as a neuro-developmental syndrome of wide phenotypic variability (Muhle et al 2004). From a socio-cultural perspective it is a « contested category » (Silverman 2012:16): a lived experience, a way of being in the world, and a form of neurodiversity (Grinker 2010; Edding Prince 2010). Because of this dualistic framing, ASD refracts in important ways the social science research on child-parent-doctor interactions during healthcare encounters (Tates and Meeuwesen 2001). This literature, however, focuses on healthcare encounters that meet the socio-cultural expectations of normative development under implicitly ‘default’ conditions, i.e. most children in these studies are typically developing, white and middle-class. This article is protected by copyright. All rights reserved.
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11. 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.
