1. Birtwell KB, Platner AK, Nowinski LA. {{Exploring the use of Sidekicks! For children with autism spectrum disorder (ASD)}}. {Psychological services}. 2018.
Clinicians and educators are increasingly using technology within the context of existing therapies and teaching methodologies. The growing use of mobile clinical tools is particularly exciting for individuals with autism spectrum disorder (ASD), as technologically based interventions have been shown to be both efficacious (to target academics, adaptive behavior, disruptive behavior, etc.) and accepted in this population (Odom et al., 2015). In addition, these tools have the potential to address two significant impediments in ASD intervention, the anxiety and/or skill deficits often associated with face-to-face interactions and skill generalization outside of the therapy office (Wieckowski & White, 2017). In other words, the use of technology may serve as an important preliminary or prerequisite step for face-to-face therapeutic progress. The purpose of this paper is to present a new, interactive clinical app that explicitly utilizes an individual’s restricted interests to teach skills and improve communication. The paper will briefly review the ways in which individuals with ASD may be good candidates for technological-based interventions, explore the current role of technology in existing evidence-based therapies, and discuss the use of a new technology, Sidekicks!, that has been developed for this population. A case example will then illustrate the use of Sidekicks! and its anticipated functionality across several public service settings, including hospitals, outpatient clinics, and school systems, thereby coordinating the intervention efforts of various professionals involved in the treatment of children with ASD. Finally, limitations of the app (and of technology more generally) and the need for future research will be discussed. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
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2. Geary DC. {{Autism in the broader context of cognitive sex differences}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018.
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3. Greenberg DM, Warrier V, Allison C, Baron-Cohen S. {{Testing the Empathizing-Systemizing theory of sex differences and the Extreme Male Brain theory of autism in half a million people}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018.
The Empathizing-Systemizing (E-S) theory of typical sex differences suggests that individuals may be classified based on empathy and systemizing. An extension of the E-S theory, the Extreme Male Brain (EMB) theory suggests that autistic people on average have a shift towards a more masculinized brain along the E-S dimensions. Both theories have been investigated in small sample sizes, limiting their generalizability. Here we leverage two large datasets (discovery n = 671,606, including 36,648 autistic individuals primarily; and validation n = 14,354, including 226 autistic individuals) to investigate 10 predictions of the E-S and the EMB theories. In the discovery dataset, typical females on average showed higher scores on short forms of the Empathy Quotient (EQ) and Sensory Perception Quotient (SPQ), and typical males on average showed higher scores on short forms of the Autism Spectrum Quotient (AQ) and Systemizing Quotient (SQ). Typical sex differences in these measures were attenuated in autistic individuals. Analysis of « brain types » revealed that typical females on average were more likely to be Type E (EQ > SQ) or Extreme Type E and that typical males on average were more likely to be Type S (SQ > EQ) or Extreme Type S. In both datasets, autistic individuals, regardless of their reported sex, on average were « masculinized. » Finally, we demonstrate that D-scores (difference between EQ and SQ) account for 19 times more of the variance in autistic traits (43%) than do other demographic variables including sex. Our results provide robust evidence in support of both the E-S and EMB theories.
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4. Lipinski S, Blanke ES, Suenkel U, Dziobek I. {{Outpatient Psychotherapy for Adults with High-Functioning Autism Spectrum Condition: Utilization, Treatment Satisfaction, and Preferred Modifications}}. {Journal of autism and developmental disorders}. 2018.
Many adults with autism spectrum condition (ASC) desire outpatient psychotherapy (PT). This study compared reasons for seeking PT, experiences with PT, and modifications preferred with respect to PT of individuals with ASC to non-autistic individuals with depression (MDD). Furthermore, factors predictive for treatment satisfaction were identified in individuals with ASC. A total of 262 adults with ASC without intellectual impairment and 304 non-autistic controls with MDD were surveyed. In this pilot study both groups predominantly sought treatment for depressiveness. A low level of expertise with autism was the main reason for being declined by therapists and a contributing factor to the overall treatment dissatisfaction of patients with ASC. ASC patients desire adjustments such as written communication, and clearly structured sessions.
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5. Park CB, Choi VN, Jun JB, Kim JH, Lee Y, Lee J, Lim G, Kim J, Jeong SY, Yim SY. {{Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder}}. {Biochemical and biophysical research communications}. 2018.
Mitochondrial dysfunction and subsequent enhanced oxidative stress is implicated in the pathogenesis of autism spectrum disorder (ASD). Mitochondrial transcription factor B2 (TFB2M) is an essential protein in mitochondrial gene expression. No reports have described TFB2M mutations and variations involved in any human diseases. We identified a rare homozygous c.790C>T (His264Tyr) variation in TFB2M gene in two Korean siblings with ASD by whole-exome sequencing. The roles of the TFB2M variation in the pathogenesis of ASD were investigated. Patient fibroblasts revealed increased transcription of mitochondrial genes and mitochondrial function in terms of ATP, membrane potential, oxygen consumption, and reactive oxygen species (ROS). Overexpression of the TFB2M variant in primary-cultured fibroblasts demonstrated significantly increased transcription of mitochondrial genes and mitochondrial function compared with overexpression of wild-type TFB2M. Molecular dynamics simulation of the TFB2M variant protein suggested an increase in the rigidity of the hinge region, which may cause alterations in loading and/or unloading of TFB2M on target DNA. Our results suggest that augmentation of mitochondrial gene expression and subsequent enhancement of mitochondrial function may be associated with the pathogenesis of ASD in Korean patients.
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6. Sanders SJ. {{Next-Generation Sequencing in Autism Spectrum Disorder}}. {Cold Spring Harbor perspectives in medicine}. 2018.
Autism spectrum disorder (ASD) is a common disorder that causes substantial distress. Heritability studies consistently show a strong genetic contribution, raising the hope that identifying ASD-associated genetic variants will offer insights into neurobiology and ultimately therapeutics. Next-generation sequencing (NGS) enabled the identification of disruptive variants throughout protein-coding regions of the genome. Alongside large cohorts and novel statistical methods, these NGS methods revolutionized ASD gene discovery. NGS methods have also contributed substantially to functional genetic data, such as gene expression, used to understand the neurobiological consequences of disrupting these ASD-associated genes. These functional data are also critical for annotating the noncoding genome as whole-genome sequencing (WGS) begins to provide initial insights outside of protein-coding regions. NGS methods still have a major role to play, as do similarly transformative advances in stem cell and gene-editing methods, in translating genetic discoveries into a first generation of ASD therapeutics.
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7. Yuk V, Urbain C, Pang EW, Anagnostou E, Buchsbaum D, Taylor MJ. {{Do you know what I’m thinking? Temporal and spatial brain activity during a theory-of-mind task in children with autism}}. {Developmental cognitive neuroscience}. 2018; 34: 139-47.
The social impairments observed in children with autism spectrum disorder are thought to arise in part from deficits in theory of mind, the ability to understand other people’s thoughts and feelings. To determine the temporal-spatial dynamics of brain activity underlying these atypical theory-of-mind processes, we used magnetoencephalography to characterize the sequence of functional brain patterns (i.e. when and where) related to theory-of-mind reasoning in 19 high-functioning children with autism compared to 22 age- and sex-matched typically-developing children aged 8-12 during a false-belief (theory-of-mind) task. While task performance did not differ between the two groups, children with autism showed reduced activation in the left temporoparietal junction between 300-375 and 425-500 ms, as well as increased activation in the right inferior frontal gyrus from 325 to 375 ms compared to controls. The overlap in decreased temporoparietal junction activity and increased right inferior frontal gyrus activation from 325 to 375 ms suggests that in children with autism, the right inferior frontal gyrus may compensate for deficits in the temporoparietal junction, a neural theory-of-mind network hub. As the right inferior frontal gyrus is involved in inhibitory control, this finding suggests that children with autism rely on executive functions to bolster their false-belief understanding.
