1. Blanchard DC, Defensor EB, Meyza KZ, Pobbe RL, Pearson BL, Bolivar VJ, Blanchard RJ. {{Addendum to ‘BTBR T+tf/J mice: autism-relevant behaviors and reduced fractone-associated heparan sulfate’ [Neurosci. Biobehav. Rev. 36(1) (2012) 285-296]}}. {Neurosci Biobehav Rev};2012 (Nov);36(10):2370.
2. Buckley A, Wingert K, Swedo S, Thurm A, Sato S, Appel S, Rodriguez AJ. {{First night effect analysis in a cohort of young children with autism spectrum disorder}}. {J Clin Sleep Med};2013;9(1):67-70.
STUDY OBJECTIVES: To evaluate for the first night effect (FNE) in a group of young children with autism. DESIGN: Analysis of polysomnographic data from a 2-night sleep laboratory study. SETTING: Clinical Center of the National Institutes of Health. PATIENTS OR PARTICIPANTS: 15 children (aged 2-10 years) with a diagnosis of an ASD. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Polysomnographic analysis showed the presence of a FNE for wake after sleep onset minutes, stage 2, and sleep efficiency, but not for REM sleep parameters or TST. CONCLUSIONS: In this 2-night polysomnographic analysis of sleep stages in young children with autism, we did not find the expected second night increase in total sleep time or REM sleep percentage or a decrease in REM sleep latency. This lack of an FNE for TST and REM parameters suggests that a single-night polysomnogram may be sufficient to evaluate children with an ASD for TST or REM parameters. CITATION: Buckley A; Wingert K; Swedo S; Thurm A; Sato S; Appel S; Rodriguez AJ. First night effect analysis in a cohort of young children with autism spectrum disorder. J Clin Sleep Med 2013;9(1):67-70.
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3. Clery H, Bonnet-Brilhault F, Lenoir P, Barthelemy C, Bruneau N, Gomot M. {{Atypical visual change processing in children with autism: An electrophysiological Study}}. {Psychophysiology};2013 (Jan 14)
Children with Autism Spectrum Disorder (ASD) may display atypical behaviors in reaction to unattended changes that occur in all sensory modalities. Atypical automatic auditory change processing has been highlighted in ASD via the analysis of mismatch negativity (MMN). The present study investigated visual deviancy detection in children with ASD in order to determine whether unusual reactions to change operate in other sensory modalities. Twelve children with ASD were presented with a passive visual oddball paradigm using dynamic stimuli. Compared to controls, children with ASD showed an earlier visual mismatch response, suggesting a hypersensitivity to visual deviancy. This study is thus consistent with the hypothesis of the existence of « general » atypical change detection processing in children with ASD that might contribute to their intolerance of change.
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4. Falkmer T, Anderson K, Falkmer M, Horlin C. {{Diagnostic procedures in autism spectrum disorders: a systematic literature review}}. {Eur Child Adolesc Psychiatry};2013 (Jan 16)
At present, ‘gold standard’ diagnosis of autism spectrum disorders (ASD) is a lengthy and time consuming process that requires suitably qualified multi-disciplinary team (MDT) personnel to assess behavioural, historical, and parent-report information to determine a diagnosis. A number of different tools have been developed to assist in determination. To optimise the diagnostic procedures, the best diagnostic instruments need to be identified. This study is a systematic review addressing the accuracy, reliability, validity and utility of reported diagnostic tools and assessments. To be included in this review, studies must have (1) identified an ASD diagnostic tool; (2) investigated either diagnostic procedure or the tools or personnel required; (3) be presented in English; (4) be conducted in the Western world; (5) be one of three types of studies [adapted from Samtani et al. in Cochrane Database Syst Rev 3:1-13, 2011], viz. (a) cohort studies or cross-sectional studies, (b) randomised studies of test accuracy, (c) case-control studies. MEDLINE, PsychINFO, Scopus, EMBASE, and Cochrane Library databases were scrutinised for relevant literature published from 2000 inclusive on 20th January 2012. In total, 68 articles were included. 17 tools were assessed. However, many lacked an evidence base of high quality-independent studies. The Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) stood out with the largest evidence base and highest sensitivity and specificity. When the ADI-R and ADOS were used in combination they revealed levels of accuracy very similar to the correct classification rates for the current ‘gold standard’ diagnostic procedure viz. 80.8 % for ASD. There is scope for future studies on the use of the ADI-R and ADOS in combination.
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5. Froehlich W, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Hallmayer J. {{Head Circumferences in Twins With and Without Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jan 16)
To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20 % of males and 27 % of females with an ASD had macrocephaly. Unaffected co-twins showed similar rates (16 % of males and 22 % of females). Statistical analysis revealed no significant difference in HCs between affected and unaffected twins. Twins with ASDs and unaffected co-twins have similar HCs and increased rates of macrocephaly. Correlations demonstrated partial inheritance of HCs. Thus, macrocephaly may represent an endophenotype in ASDs.
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6. Khan S, Gramfort A, Shetty NR, Kitzbichler MG, Ganesan S, Moran JM, Lee SM, Gabrieli JD, Tager-Flusberg HB, Joseph RM, Herbert MR, Hamalainen MS, Kenet T. {{Local and long-range functional connectivity is reduced in concert in autism spectrum disorders}}. {Proc Natl Acad Sci U S A};2013 (Jan 14)
Long-range cortical functional connectivity is often reduced in autism spectrum disorders (ASD), but the nature of local cortical functional connectivity in ASD has remained elusive. We used magnetoencephalography to measure task-related local functional connectivity, as manifested by coupling between the phase of alpha oscillations and the amplitude of gamma oscillations, in the fusiform face area (FFA) of individuals diagnosed with ASD and typically developing individuals while they viewed neutral faces, emotional faces, and houses. We also measured task-related long-range functional connectivity between the FFA and the rest of the cortex during the same paradigm. In agreement with earlier studies, long-range functional connectivity between the FFA and three distant cortical regions was reduced in the ASD group. However, contrary to the prevailing hypothesis in the field, we found that local functional connectivity within the FFA was also reduced in individuals with ASD when viewing faces. Furthermore, the strength of long-range functional connectivity was directly correlated to the strength of local functional connectivity in both groups; thus, long-range and local connectivity were reduced proportionally in the ASD group. Finally, the magnitude of local functional connectivity correlated with ASD severity, and statistical classification using local and long-range functional connectivity data identified ASD diagnosis with 90% accuracy. These results suggest that failure to entrain neuronal assemblies fully both within and across cortical regions may be characteristic of ASD.
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7. Naigles LR, Kelley E, Troyb E, Fein D. {{Residual Difficulties with Categorical Induction in Children with a History of Autism}}. {J Autism Dev Disord};2013 (Jan 16)
In two experiments, typically developing (TD) children, high-functioning children with autism (HFA) and children with a history of autism who have achieved optimal outcomes (OOs), matched on age (M = 13 years) and nonverbal IQ, were asked to extend properties of categories to new items (categorical induction). All groups demonstrated some knowledge of category structure by extending at above-chance levels; however, the TD group extended more consistently than the OO and HFA groups. More consistent extenders had higher lexical and nonverbal IQ scores (Experiment 1) or higher pragmatics scores (Experiment 2). Thus, even very high functioning individuals with autism, or with an OO, still exhibit residual difficulties with category knowledge and extension; moreover, category tasks relate to a variety of verbal and nonverbal abilities. The difficulty these groups had with categorical induction may be related to their difficulty with generalization more widely; future research should investigate this possibility.
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8. Pearson BL, Corley MJ, Vasconcellos A, Blanchard DC, Blanchard RJ. {{Heparan sulfate deficiency in autistic postmortem brain tissue from the subventricular zone of the lateral ventricles}}. {Behav Brain Res};2013 (Jan 11)
Abnormal cellular growth and organization have been characterized in postmortem tissue from brains of autistic individuals, suggestive of pathology in a critical neurogenic niche, the subventricular zone (SVZ) of the brain lateral ventricles (LV). We examined cellular organization, cell proliferation, and constituents of the extracellular matrix such as N-sulfated heparan sulfate (HS) and laminin (LAM) in postmortem brain tissue from the LV-SVZ of young to elderly individuals with autism (n=4) and age-matched typically developing (TD) individuals (n=4) using immunofluorescence techniques. Strong and systematic reductions in HS immunofluorescence were observed in the LV-SVZ of the TD individuals with increasing age. For young through mature, but not elderly, autistic pair members, HS was reduced compared to their matched TDs. Cellular proliferation (Ki67+) was higher in the autistic individual of the youngest age-matched pair. These preliminary data suggesting that HS may be reduced in young to mature autistic individuals are in agreement with previous findings from the BTBR T+tf/J mouse, an animal model of autism; from mice with genetic modifications reducing HS; and with genetic variants in HS-related genes in autism. They suggest that aberrant extracellular matrix glycosaminoglycan function localized to the subventricular zone of the lateral ventricles may be a biomarker for autism, and potentially involved in the etiology of the disorder.
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9. Winarni TI, Utari A, Mundhofir FE, Hagerman RJ, Faradz SM. {{Fragile X Syndrome: Clinical, Cytogenetics and Molecular Screening among Autism Spectrum Disorder Children in Indonesia}}. {Clin Genet};2013 (Jan 16)
BACKGROUND: Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. METHOD: DSM-IV-TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Scale (CARS). Cytogenetic analysis, PCR, and Southern blot for FMR1 gene analysis were carried out to confirm the diagnosis of fragile X syndrome. RESULTS: The fragile X site and FMR1 full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15 %) children aged 3 to 17 years (57 boys, 8 girls) respectively. CONCLUSION: The Fragile X laboratory workup is essential in the evaluation of patients with ASD. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available.
