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. Di Renzo M, Bianchi Di Castelbianco F, Petrillo M, Racinaro L, Rea M. {{ASSESSMENT OF A LONG-TERM DEVELOPMENTAL RELATIONSHIP-BASED APPROACH IN CHILDREN WITH AUTISM SPECTRUM DISORDER}}. {Psychol Rep};2015 (Aug 13)
-90 Italian children (72 boys, 18 girls) with a diagnosis of infantile autism (age range = 2.5-16.5 yr.) were assessed with a non-verbal intelligence test (Leiter-R). The test was repeated 3 times in four years. The measures used were IQ and Fluid Reasoning (FR), as evaluation of inductive and deductive reasoning, and the Autism Diagnostic Observation Schedule (ADOS), indicative of the severity of autistic symptoms at the beginning and at the end of therapy. The increase in the average IQ and FR scores at retests demonstrates the effectiveness of a treatment that emphasizes the centrality of the relationship-based approach. Moreover, the FR score at intake was predictive of a significant decrease of ADOS scores after four years of treatment, and of the increase in IQ observed in later evaluations. The data support the hypothesis that a relationship-based intervention allows cognitive improvement regardless of the autism severity expressed in the ADOS score.
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4. Frisch M, Simonsen J. {{Circumcision-autism link needs thorough evaluation: Response to Morris and Wiswell}}. {J R Soc Med};2015 (Aug);108(8):297-298.
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5. 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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6. Magana S, Lopez K, Machalicek W. {{Parents Taking Action: A Psycho-Educational Intervention for Latino Parents of Children With Autism Spectrum Disorder}}. {Fam Process};2015 (Aug 13)
The increased prevalence of autism spectrum disorder (ASD) among Latino children, later diagnosis, limited access to bicultural specialist support, and worsened health outcomes when compared to non-Latinos points to the need for a culturally relevant parent education intervention. This pilot study examined the feasibility, acceptability, and preliminary outcomes of a culturally derived intervention, Parents Taking Action, for 19 Spanish-speaking mothers of children with ASD. This study introduces the Promotora de Salud Model of intervention delivery to the autism field. A mixed-methods design including one group pre- and posttest design and focus groups was used to evaluate the outcomes of PTA. We found that the intervention was both feasible to implement and acceptable to participants. We also found significant increases in empowerment oriented outcomes for parents between pre- and posttest suggesting that the intervention is promising. Suggestions for future research and practice are offered.
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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. Morris BJ, Wiswell TE. {{‘Circumcision pain’ unlikely to cause autism}}. {J R Soc Med};2015 (Aug);108(8):297.
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9. Parma V, de Marchena AB. {{Motor signatures in Autism Spectrum Disorder: The importance of variability}}. {J Neurophysiol};2015 (Aug 12):jn 00647 02015.
In a recent study, Wang and colleagues (2015) used a precision grip force control task to unveil the contribution of feed-forward and feedback mechanisms to sensorimotor dysfunction in autism spectrum disorder (ASD). Impairment of both motor control mechanisms was observed, along with significant variability in the motor response. Here we discuss these findings within the conceptual framework of the grasping circuit, and within the broader context of clinical and research applications based on motor behavior.
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10. Ruzich E, Allison C, Smith P, Watson P, Auyeung B, Ring H, Baron-Cohen S. {{Erratum: Measuring autistic traits in the general population: a systematic review of the Autism-Spectrum Quotient (AQ) in a nonclinical population sample of 6,900 typical adult males and females}}. {Mol Autism};2015;6:45.
[This corrects the article DOI: 10.1186/2040-2392-6-2.].
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11. 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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12. Zeidler S, Hukema RK, Willemsen R. {{The quest for targeted therapy in fragile X syndrome}}. {Expert Opin Ther Targets};2015 (Aug 14):1-5.
Fragile X syndrome (FXS) is the most common, monogenetic cause of intellectual disability and autism-spectrum disorders. Although there is no effective therapy, greater understanding of disturbed neuronal pathways has introduced options for targeted therapy. But whereas many FXS phenotypes were improved in preclinical studies with drugs targeting these pathways in the FXS mouse model, attempts to translate these animal-model success stories into treatment of patients in clinical trials have been extremely disappointing. Complicating factors, particularly in animal studies, include mouse inbred strains, variability in functional studies between laboratories, publication bias and lack of reliable and objective primary outcome measures in both mice and patients. Possibly most important, however, is one factor that has been little explored: the complexity of the molecular imbalance in FXS and the need to simultaneously target several different disturbed pathways and different cellular compartments. New, well-conceived animal studies should generate more productive approaches in the quest for targeted therapy for FXS.
