1. Daimon CM, Jasien JM, Wood WH, 3rd, Zhang Y, Becker KG, Silverman JL, Crawley JN, Martin B, Maudsley S. {{Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder}}. {Front Physiol};2015;6:324.
Autism spectrum disorders (ASD) are complex heterogeneous neurodevelopmental disorders of an unclear etiology, and no cure currently exists. Prior studies have demonstrated that the black and tan, brachyury (BTBR) T+ Itpr3tf/J mouse strain displays a behavioral phenotype with ASD-like features. BTBR T+ Itpr3tf/J mice (referred to simply as BTBR) display deficits in social functioning, lack of communication ability, and engagement in stereotyped behavior. Despite extensive behavioral phenotypic characterization, little is known about the genes and proteins responsible for the presentation of the ASD-like phenotype in the BTBR mouse model. In this study, we employed bioinformatics techniques to gain a wide-scale understanding of the transcriptomic and proteomic changes associated with the ASD-like phenotype in BTBR mice. We found a number of genes and proteins to be significantly altered in BTBR mice compared to C57BL/6J (B6) control mice controls such as BDNF, Shank3, and ERK1, which are highly relevant to prior investigations of ASD. Furthermore, we identified distinct functional pathways altered in BTBR mice compared to B6 controls that have been previously shown to be altered in both mouse models of ASD, some human clinical populations, and have been suggested as a possible etiological mechanism of ASD, including « axon guidance » and « regulation of actin cytoskeleton. » In addition, our wide-scale bioinformatics approach also discovered several previously unidentified genes and proteins associated with the ASD phenotype in BTBR mice, such as Caskin1, suggesting that bioinformatics could be an avenue by which novel therapeutic targets for ASD are uncovered. As a result, we believe that informed use of synergistic bioinformatics applications represents an invaluable tool for elucidating the etiology of complex disorders like ASD.
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2. Jung M, Mody M, Saito DN, Tomoda A, Okazawa H, Wada Y, Kosaka H. {{Sex Differences in the Default Mode Network with Regard to Autism Spectrum Traits: A Resting State fMRI Study}}. {PLoS One};2015;10(11):e0143126.
Autism spectrum traits exist on a continuum and are more common in males than in females, but the basis for this sex difference is unclear. To this end, the present study draws on the extreme male brain theory, investigating the relationship between sex difference and the default mode network (DMN), both known to be associated with autism spectrum traits. Resting-state functional magnetic resonance imaging (MRI) was carried out in 42 females (mean age +/- standard deviation, 22.4 +/- 4.2 years) and 43 males (mean age +/- standard deviation, 23.8 +/- 3.9 years) with typical development. Using a combination of different analyses (viz., independent component analysis (ICA), fractional amplitude of low-frequency fluctuation (fALFF), regional homogeneity (ReHo), and seed-based analyses), we examined sex differences in the DMN and the relationship to autism spectrum traits as measured by autism-spectrum quotient (AQ) scores. We found significant differences between female and male subjects in DMN brain regions, with seed-based analysis revealing a significant negative correlation between default-mode resting state functional connectivity of the anterior medial prefrontal cortex seed (aMPFC) and AQ scores in males. However, there were no relationships between DMN sex differences and autism spectrum traits in females. Our findings may provide important insight into the skewed balance of functional connectivity in males compared to females that could serve as a potential biomarker of the degree of autism spectrum traits in line with the extreme male brain theory.
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3. Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH. {{SATB2-associated syndrome presenting with Rett-like phenotypes}}. {Clin Genet};2015 (Nov 24)
The SATB2-associated syndrome was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentition problems. Here, we describe two novel SATB2 sequence variants in two unrelated patients presenting with Rett-like phenotypes. We performed trio-based whole exome sequencing in a 17-month-old girl presenting with severe retardation and Rett-like phenotypes, which revealed a de novo missense variant in SATB2 (p.Glu396Gln). Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome. A nonsense variant in SATB2 was identified in this patient (p.Arg459*). This study expanded the clinical and genetic spectrum of SATB2-associated syndrome. SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate.
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4. Posner DS. {{W. Solomon, C. Holland, M. J. Middleton: Autism and Understanding: The Waldon Approach to Child Development : SAGE Publications, London, 2012, 240 pp, $50.00 (paper), ISBN-10: 1446209245}}. {J Autism Dev Disord};2015 (Nov 24)
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5. Postorino V, Fatta LM, Sanges V, Giovagnoli G, De Peppo L, Vicari S, Mazzone L. {{Intellectual disability in Autism Spectrum Disorder: Investigation of prevalence in an Italian sample of children and adolescents}}. {Res Dev Disabil};2015 (Nov 24);48:193-201.
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6. Sheppard E, Pillai D, Wong GT, Ropar D, Mitchell P. {{How Easy is it to Read the Minds of People with Autism Spectrum Disorder?}}. {J Autism Dev Disord};2015 (Nov 24)
How well can neurotypical adults’ interpret mental states in people with ASD? ‘Targets’ (ASD and neurotypical) reactions to four events were video-recorded then shown to neurotypical participants whose task was to identify which event the target had experienced. In study 1 participants were more successful for neurotypical than ASD targets. In study 2, participants rated ASD targets equally expressive as neurotypical targets for three of the events, while in study 3 participants gave different verbal descriptions of the reactions of ASD and neurotypical targets. It thus seems people with ASD react differently but not less expressively to events. Because neurotypicals are ineffective in interpreting the behaviour of those with ASD, this could contribute to the social difficulties in ASD.
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7. Woynaroski T, Watson L, Gardner E, Newsom CR, Keceli-Kaysili B, Yoder PJ. {{Early Predictors of Growth in Diversity of Key Consonants Used in Communication in Initially Preverbal Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Nov 24)
Diversity of key consonants used in communication (DKCC) is a value-added predictor of expressive language growth in initially preverbal children with autism spectrum disorder (ASD). Studying the predictors of DKCC growth in young children with ASD might inform treatment of this under-studied aspect of prelinguistic development. Eighty-seven initially preverbal preschoolers with ASD and their parents were observed at five measurement periods. In this longitudinal correlational investigation, we found that child intentional communication acts and parent linguistic responses to child leads predicted DKCC growth, after controlling for two other predictors and two background variables. As predicted, receptive vocabulary mediated the association between the value-added predictors and endpoint DKCC.
