1. Best C, Arora S, Porter F, Doherty M. {{The Relationship Between Subthreshold Autistic Traits, Ambiguous Figure Perception and Divergent Thinking}}. {J Autism Dev Disord};2015 (Aug 14)
This research investigates the paradox of creativity in autism. That is, whether people with subclinical autistic traits have cognitive styles conducive to creativity or whether they are disadvantaged by the implied cognitive and behavioural rigidity of the autism phenotype. The relationship between divergent thinking (a cognitive component of creativity), perception of ambiguous figures, and self-reported autistic traits was evaluated in 312 individuals in a non-clinical sample. High levels of autistic traits were significantly associated with lower fluency scores on the divergent thinking tasks. However autistic traits were associated with high numbers of unusual responses on the divergent thinking tasks. Generation of novel ideas is a prerequisite for creative problem solving and may be an adaptive advantage associated with autistic traits.
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2. Brunner D, Kabitzke P, He D, Cox K, Thiede L, Hanania T, Sabath E, Alexandrov V, Saxe M, Peles E, Mills A, Spooren W, Ghosh A, Feliciano P, Benedetti M, Luo Clayton A, Biemans B. {{Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder}}. {PLoS One};2015;10(8):e0134572.
Autism spectrum disorder comprises several neurodevelopmental conditions presenting symptoms in social communication and restricted, repetitive behaviors. A major roadblock for drug development for autism is the lack of robust behavioral signatures predictive of clinical efficacy. To address this issue, we further characterized, in a uniform and rigorous way, mouse models of autism that are of interest because of their construct validity and wide availability to the scientific community. We implemented a broad behavioral battery that included but was not restricted to core autism domains, with the goal of identifying robust, reliable phenotypes amenable for further testing. Here we describe comprehensive findings from two known mouse models of autism, obtained at different developmental stages, using a systematic behavioral test battery combining standard tests as well as novel, quantitative, computer-vision based systems. The first mouse model recapitulates a deletion in human chromosome 16p11.2, found in 1% of individuals with autism. The second mouse model harbors homozygous null mutations in Cntnap2, associated with autism and Pitt-Hopkins-like syndrome. Consistent with previous results, 16p11.2 heterozygous null mice, also known as Del(7Slx1b-Sept1)4Aam weighed less than wild type littermates displayed hyperactivity and no social deficits. Cntnap2 homozygous null mice were also hyperactive, froze less during testing, showed a mild gait phenotype and deficits in the three-chamber social preference test, although less robust than previously published. In the open field test with exposure to urine of an estrous female, however, the Cntnap2 null mice showed reduced vocalizations. In addition, Cntnap2 null mice performed slightly better in a cognitive procedural learning test. Although finding and replicating robust behavioral phenotypes in animal models is a challenging task, such functional readouts remain important in the development of therapeutics and we anticipate both our positive and negative findings will be utilized as a resource for the broader scientific community.
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3. Calfee S. {{Durban, J. (2014). ‘Despair and hope: on some varieties of countertransference and enactment in the psychoanalysis of ASD (autistic spectrum disorder) children’. Journal of Child Psychotherapy, 40, 2, 187-200}}. {J Anal Psychol};2015 (Sep);60(4):587-591.
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4. Duong BT, Savarirayan R, Winship I. {{Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned}}. {Fam Cancer};2015 (Aug 15)
Incidental findings are inevitable as clinical research and practice transitions from a single gene approach to a genomic approach. A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male who underwent a molecular karyotype as part of an autism spectrum disorder research project. This unexpected result implies a predisposition to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), a rare, autosomal dominant condition and has unforeseen implications for him and his family. We review the typical features and management of HLRCC and discuss the challenges that face health professionals, as genetic testing advances and becomes more accessible.
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5. Gentile S. {{Prenatal antidepressant exposure and the risk of autism spectrum disorders in children. Are we looking at the fall of Gods?}}. {J Affect Disord};2015 (Aug 15);182:132-137.
Recent information suggests that antenatal exposure to psychotropics may impair child neurodevelopment. Thus, aim of this review is to examine systematically available literature investigating potential associations between prenatal use of selective serotonin reuptake inhibitors (SSRIs) and the risk of autism spectrum disorders (ASDs). METHODS: Medical literature published in English since 1988 identified using MEDLINE/PubMed, EMBASE, SCOPUS, and The Cochrane Library. Search terms: antidepressants, autism (spectrum disorders), childhood, children, neurodevelopment, pregnancy, SSRIs. Searches were updated until March 5, 2015. RESULTS: Six out of eight reviewed articles confirm an association between antenatal SSRI exposure and an increased risk of ASDs in children. However, the epidemiologic evidence on the link between prenatal SSRI exposure and ASD risk must still be cautiously interpreted, because of potential biases of analyzed research. LIMITATIONS: Main limitations of reviewed studies include: lack of directly validated clinical evaluation, impossibility to identify women who really took the prescribed medications during pregnancy, no assessment of severity and course of symptoms in relation to the pregnancy, lack of information about unhealthy prenatal lifestyle behaviors. CONCLUSIONS: Despite such limitations, available data show that some signal exists suggesting that antenatal exposure to SSRIs may increase the risk of ASDs. Thus, there is an urgent need for further, large, well-designed research finalized to definitively assess the existence and the magnitude of this severe risk, thus confirming or denying that we are truly looking at « the fall of Gods », since for many years SSRIs have been considered the first-choice agents for treating antenatal depression (Gentile, 2014; Gentile, 2011a; Gentile, 2005).
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6. Johnco CJ, De Nadai AS, Lewin AB, Ehrenreich-May J, Wood JJ, Storch EA. {{Erratum to: Defining Treatment Response and Symptom Remission for Anxiety Disorders in Pediatric Autism Spectrum Disorders Using the Pediatric Anxiety Rating Scale}}. {J Autism Dev Disord};2015 (Aug 14)
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7. Mor M, Nardone S, Sams DS, Elliott E. {{Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex}}. {Mol Autism};2015;6:46.
BACKGROUND: MicroRNAs are small RNA molecules that regulate the translation of protein from gene transcripts and are a powerful mechanism to regulate gene networks. Next-generation sequencing technologies have produced important insights into gene transcription changes that occur in the brain of individuals diagnosed with autism spectrum disorder (asd). However, these technologies have not yet been employed to uncover changes in microRNAs in the brain of individuals diagnosed with asd. METHODS: Small RNA next-generation sequencing was performed on RNA extracted from 12 human autism brain samples and 12 controls. Real-time PCR was used to validate a sample of the differentially expressed microRNAs, and bioinformatic analysis determined common pathways of gene targets. MicroRNA expression data was correlated to genome-wide DNA methylation data to determine if there is epigenetic regulation of dysregulated microRNAs in the autism brain. Luciferase assays, real-time PCR, and Western blot analysis were used to determine how dysregulated microRNAs may regulate the expression and translation of an autism-related gene transcript. RESULTS: We determined that miR-142-5p, miR-142-3p, miR-451a, miR-144-3p, and miR-21-5p are overexpressed in the asd brain. Furthermore, the promoter region of the miR-142 gene is hypomethylated in the same brain samples, suggesting that epigenetics plays a role in dysregulation of microRNAs in the brain. Bioinformatic analysis revealed that these microRNAs target genes that are involved in synaptic function. Further bioinformatic analysis, coupled with in vitro luciferase assays, determined that miR-451a and miR-21-5p can target the oxytocin receptor (OXTR) gene. OXTR gene expression is increased in these same brain samples, and there is a positive correlation between miR-21-5p and OXTR expression. However, miR-21-5p expression negatively correlates to production of OXTR protein from the OXTR transcript. Therefore, we suggest that miR-21-5p may attenuate OXTR expression in the human autism brain. CONCLUSIONS: Our data suggests that dysregulation of microRNAs may play a biological role in the brain of individuals of autism. In addition, we suggest an interaction between epigenetic mechanisms and microRNA dysregulation in the brain. Overall, this data adds an important link in our understanding of the molecular events that are dysregulated in the brain of individuals diagnosed with autism.
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8. Ornoy A, Weinstein-Fudim L, Ergaz Z. {{Prenatal factors associated with autism spectrum disorder (ASD)}}. {Reprod Toxicol};2015 (Aug 15);56:155-169.
Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal and postnatal etiologies. We discuss the known associated prenatal factors affecting the fetus throughout pregnancy; whenever relevant, also summarize some animal data. Among the maternal diseases in pregnancy associated with ASD are pregestational and/or gestational diabetes mellitus (PGDM, GDM), maternal infections (i.e. rubella, cytomegalovirus (CMV)), prolonged fever and maternal inflammation, which cause changes in a variety of inflammatory cytokines. Among the drugs are valproic acid, thalidomide, and possibly misoprostol and serotonin reuptake inhibitors (SSRIs). Associations were described with ethanol, and possibly cocaine, heavy metals heavy smoking and Folic acid deficiency. Heavy exposure to pesticides and air pollution during pregnancy was recently associated with ASD. We need more epidemiologic data to establish many of these associations; if proven, they might be promising avenues for prevention.
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9. Strahle J, Maher CO. {{Letter to the Editor: Chiari malformation I and autism spectrum disorder}}. {J Neurosurg Pediatr};2015 (Aug 14):1-2.
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10. Thiebaut FI, White SJ, Walsh A, Klargaard SK, Wu HC, Rees G, Burgess PW. {{Does Faux Pas Detection in Adult Autism Reflect Differences in Social Cognition or Decision-Making Abilities?}}. {J Autism Dev Disord};2015 (Aug 15)
43 typically-developed adults and 35 adults with ASD performed a cartoon faux pas test. Adults with ASD apparently over-detected faux pas despite good comprehension abilities, and were generally slower at responding. Signal detection analysis demonstrated that the ASD participants had significantly greater difficulty detecting whether a cartoon depicted a faux pas and showed a liberal response bias. Test item analysis demonstrated that the ASD group were not in agreement with a reference control group (n = 69) about which non-faux pas items were most difficult. These results suggest that the participants with ASD had a primary problem with faux pas detection, but that there is another factor at work, possibly compensatory, that relates to their choice of a liberal response criterion.
