1. Carey MJ. {{Correspondence. Timing of Increased Autistic Disorder Cumulative Incidence}}. {Environ Sci Technol}. 2011 Dec 21.
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2. Frith U, Frith C. {{Reputation management: in autism, generosity is its own reward}}. {Curr Biol}. 2011 Dec 20;21(24):R994-5.
A recent study has found that autistic people donate the same to charity regardless of whether they are observed. This is not because they are oblivious to others, but because they are free of hypocrisy.
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3. Handen BL, Taylor J, Tumuluru R. {{Psychopharmacological treatment of ADHD symptoms in children with autism spectrum disorder}}. {Int J Adolesc Med Health}. 2011;23(3):167-73.
One of the most frequently reported behavioral concerns among children with autism spectrum disorder (ASD) is high rates of activity and inattention, symptoms that are often associated with attention deficit hyperactivity disorder (ADHD). Although there is a considerable body of research regarding the appropriate treatment of ADHD symptoms among typically developing children, the research among children with ASD is more limited. The evidence to date suggests that medication response rates among children with ASD are considerably lower than among typically developing children and that children with ASD tend to be at greater risk for experiencing side effects. The purpose of the present paper is to review the available research on the treatment of ADHD symptoms in children with ASD. This paper summarizes the data on a range of pharmacological options and provides specific recommendations for how best to clinically manage these symptoms.
4. Hassanpour S, O’Connor MJ, Das AK. {{Evaluation of semantic-based information retrieval methods in the autism phenotype domain}}. {AMIA Annu Symp Proc}. 2011;2011:569-77.
Biomedical ontologies are increasingly being used to improve information retrieval methods. In this paper, we present a novel information retrieval approach that exploits knowledge specified by the Semantic Web ontology and rule languages OWL and SWRL. We evaluate our approach using an autism ontology that has 156 SWRL rules defining 145 autism phenotypes. Our approach uses a vector space model to correlate how well these phenotypes relate to the publications used to define them. We compare a vector space phenotype representation using class hierarchies with one that extends this method to incorporate additional semantics encoded in SWRL rules. From a PubMed-extracted corpus of 75 articles, we show that average rank of a related paper using the class hierarchy method is 4.6 whereas the average rank using the extended rule-based method is 3.3. Our results indicate that incorporating rule-based definitions in information retrieval methods can improve search for relevant publications.
5. Hollander E, Soorya L, Chaplin W, Anagnostou E, Taylor BP, Ferretti CJ, et al. {{A Double-Blind Placebo-Controlled Trial of Fluoxetine for Repetitive Behaviors and Global Severity in Adult Autism Spectrum Disorders}}. {Am J Psychiatry}. 2011 Dec 2.
OBJECTIVE: The effects of fluoxetine and placebo on repetitive behaviors and global severity were compared in adults with autism spectrum disorders (ASDs). METHOD: Adults with ASDs were enrolled in a 12-week double-blind placebo-controlled fluoxetine trial. Thirty-seven were randomly assigned to fluoxetine (N=22) or placebo (N=15). Dosage followed a fixed schedule, starting at 10 mg/day and increasing as tolerated up to 80 mg/day. Repetitive behaviors were measured with the compulsion subscale of the Yale-Brown Obsessive Compulsive Scale; the Clinical Global Impression (CGI) improvement scale was used to rate improvement in obsessive-compulsive symptoms and overall severity. RESULTS: There was a significant treatment-by-time interaction indicating a significantly greater reduction in repetitive behaviors across time for fluoxetine than for placebo. With overall response defined as a CGI global improvement score of 2 or less, there were significantly more responders at week 12 in the fluoxetine group than in the placebo group. The risk ratio was 1.5 for CGI global improvement (responders: fluoxetine, 35%; placebo, 0%) and 1.8 for CGI-rated improvement in obsessive-compulsive symptoms (responders: fluoxetine, 50%; placebo, 8%). Only mild and moderate side effects were observed. CONCLUSIONS: Fluoxetine treatment, compared to placebo, resulted in significantly greater improvement in repetitive behaviors, according to both the Yale-Brown compulsion subscale and CGI rating of obsessive-compulsive symptoms, as well as on the CGI overall improvement rating. Fluoxetine appeared to be well tolerated. These findings stand in contrast to findings in a trial of citalopram for childhood autism.
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6. Johnson RA, Lam M, Punzo AM, Li H, Lin BR, Ye K, et al. {{7,8-dihydroxyflavone (7,8-DHF) exhibits therapeutic efficacy in a mouse model of Rett syndrome}}. {J Appl Physiol}. 2011 Dec 22.
Rett syndrome (RTT), caused by mutations in the methyl-CpG binding protein 2 gene (Mecp2), is a debilitating autism spectrum developmental disorder predominantly affecting females. Mecp2 mutant mice have reduced levels of brain-derived neurotrophic factor (BDNF) in the brain; conditional deletion and overexpression of BDNF in the brain accelerates and slows, respectively, disease progression in Mecp2 mutant mice. Thus, we tested the hypothesis that 7,8-dihydroxyflavone (7,8-DHF), a small molecule reported to activate the high affinity BDNF receptor (TrkB) in the CNS, would attenuate disease progression in Mecp2 mutant mice. Following weaning, 7,8-DHF was administered in drinking water throughout life. Treated mutant mice lived significantly longer compared with untreated mutant littermates (80+/-4 and 66+/-2 days, respectively). 7,8-DHF delayed body weight loss, increased neuronal nuclei size and enhanced voluntary locomotor (running wheel) distance in Mecp2 mutant mice. In addition, administration of 7,8-DHF partially improved breathing pattern irregularities and returned tidal volumes to near wild-type levels. Thus, although the specific mechanisms are not completely known, 7,8-DHF appears to reduce disease symptoms in Mecp2 mutant mice and may have potential as a therapeutic treatment for RTT patients.
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7. Malisza KL, Clancy C, Shiloff D, Holden J, Jones C, Paulson K, et al. {{Functional magnetic resonance imaging of facial information processing in children with autistic disorder, attention deficit hyperactivity disorder and typically developing controls}}. {Int J Adolesc Med Health}. 2011;23(3):269-77.
The present study used functional magnetic resonance imaging (fMRI) to compare the neural activation patterns of children diagnosed with autistic disorder (AD), attention deficit hyperactivity disorder (ADHD), and typically developing controls (TCs) in response to a task involving evaluation of facial expressions. Substantially greater functional activity was noted in TCs compared to both subjects diagnosed with AD and ADHD. Consistent with previous studies, differences in functional activation of the amygdala, fusiform gyrus, cerebellum, mesolimbic, and temporal lobe cortical regions of the brain during a task evaluating facial expressions were noted in AD compared to TCs. Differences in the neural activity in these brain regions were also observed in children diagnosed with AD compared to those diagnosed with ADHD. Overall decreased neural activity was observed during the faces task performance in the AD group compared to the other two groups, a finding consistent with studies using adults. Both TC and ADHD control groups showed increased inferior frontal cortex activity compared to the AD group. Significant activity was present in both TC and ADHD control groups in the insula which was absent in the AD group; this is consistent with other studies showing dysfunction of the mesolimbic system in children with AD. Although frontostriatal and mesolimbic systems appear to be affected in AD, these deficits were not in the same attentional networks which are dysfunctional in children diagnosed with ADHD.
8. McDonald ME, Paul JF. {{Reply to Correspondence on « Timing of Increased Autistic Disorder Cumulative Incidence »}}. {Environ Sci Technol}. 2011 Dec 21.
In response to Dr. Carey’s comments, our paper was not about any single population, location, or dataset, but rather the examination of appropriate datasets for changepoints in cumulative AD incidence. In our paper we found similarity in the changepoint years for the CDDS dataset (1988), a Danish dataset (1988), and a worldwide composite dataset (1989), and these were consistent with the timing for increasing autism in other studies. We performed an additional changepoint analysis using Carey’s data transformation and we found a changepoint of 1984. We feel that this shift to an earlier changepoint is a function of the log transformation and that analysis of the original, untransformed data is more appropriate. From a precautionary standpoint, it seems prudent to assume that at least some portion of the observed increases in cumulative AD incidence is real. Since exposure to environmental factors appears to have a role in the development of autism and is potentially preventable, further examination of any relevant candidate environmental factors should include a focus around the timing of these changepoints.
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9. Tanguay PE. {{Autism in DSM-5}}. {Am J Psychiatry}. 2011 Nov 1;168(11):1142-4.
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10. Van der Molen MJ, Van der Molen MW, Ridderinkhof KR, Hamel BC, Curfs LM, Ramakers GJ. {{Auditory change detection in fragile X syndrome males: A brain potential study}}. {Clin Neurophysiol}. 2011 Dec 20.
OBJECTIVE: The present study investigated involuntary change detection in a two-tone pre-attentive auditory discrimination paradigm in order to better understand the information processing mechanisms underlying attention deficits in fragile X syndrome (FXS) males. METHODS: Sixteen males with the FXS full mutation and 20 age-matched control participants (mean age 29years) were presented with series of auditory stimuli consisting of standard and deviant tones while watching a silent movie. RESULTS: Brain potentials recorded to the tones showed that N1 and P2, sensory evoked potentials, were significantly enhanced in FXS compared to age-matched control participants. In contrast to controls, the N1 to standard tones failed to show long-term habituation to stimulus repetition in FXS. Additionally, both mismatch negativity and P3a generation, reflecting automatic change detection and the involuntary switch of attention, respectively, were significantly attenuated in FXS males. CONCLUSIONS: The current study demonstrates that auditory stimulus discrimination in the FXS brain is already compromised during the pre-attentive stages of information processing. Furthermore, the apparent pre-attentive information processing deficiencies in FXS coincide with a weakness in the involuntary engagement of attentional resources. SIGNIFICANCE: The stimulus-driven information processing deficiencies in FXS might compromise information processing in several domains and, thus, present a key-deficit in FXS neurocognition.
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11. Weng SM, Bailey ME, Cobb SR. {{Rett syndrome: from bed to bench}}. {Pediatr Neonatol}. 2011 Dec;52(6):309-16.
Rett syndrome (RTT), a neurodevelopmental condition characterized by delayed-onset loss of spoken language and the development of distinctive hand stereotypies, affects approximately 1 in 10,000 live female births. Clinical diagnosis has been based on symptoms such as loss of acquired purposeful hand skills, autistic behaviors, motor dysfunctions, seizure disorders, and gait abnormalities. RTT is a genetic disease and is caused almost exclusively by mutations in the X-linked gene, MECP2, to produce a phenotype that is thought to be primarily of neurological origin. Clinical reports show RTT patients to have a smaller brain volume, especially in the cerebral hemispheres, and alterations in various neurotransmitter systems, including acetylcholine, dopamine, serotonin, glutamate, substance P, and various trophic factors. Because of its monogenetic characteristic, disruption of Mecp2 is readily recapitulated in mice to produce a prominent RTT-like phenotype and provide an excellent platform for understanding the pathogenesis of RTT. As shown in human studies, Mecp2 mutants also display subtle alterations in neuronal morphology, including smaller cortical neurons with a higher-packing density and reduced dendritic complexity. Neurophysiological studies in Mecp2-mutant mice consistently report alterations in synaptic function, notably, defects in synaptic plasticity. These data suggest that RTT might be regarded as a synaptopathy (disease of the synapse) and thus potentially amenable to rational therapeutic intervention.
