1. Allen AA, Schlosser RW, Brock KL, Shane HC. {{The effectiveness of aided augmented input techniques for persons with developmental disabilities: a systematic review}}. {Augment Altern Commun}. 2017: 1-11.
When working with individuals with little or no functional speech, clinicians often recommend that communication partners use the client’s augmentative and alternative communication (AAC) device when speaking to the client. This is broadly known as « augmented input » and is thought to enhance the client’s learning of language form and content. The purpose of this systematic review was to determine the effects of augmented input on communication outcomes in persons with developmental disabilities and persons with childhood apraxia of speech who use aided AAC. Nineteen studies met the inclusion criteria. Each included study was reviewed in terms of participant characteristics, terminology used, symbol format, augmented input characteristics, outcomes measured, effectiveness, and study quality. Results indicate that augmented input can improve single-word vocabulary skills and expression of multi-symbol utterances; however, comprehension beyond the single word level has not been explored. Additionally, it is difficult to form conclusions about the effect of augmented input on specific diagnostic populations. Directions for future research are posited.
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2. Bethlehem RAI, Romero-Garcia R, Mak E, Bullmore ET, Baron-Cohen S. {{Structural Covariance Networks in Children with Autism or ADHD}}. {Cereb Cortex}. 2017: 1-10.
Background: While autism and attention-deficit/hyperactivity disorder (ADHD) are considered distinct conditions from a diagnostic perspective, clinically they share some phenotypic features and have high comorbidity. Regardless, most studies have focused on only one condition, with considerable heterogeneity in their results. Taking a dual-condition approach might help elucidate shared and distinct neural characteristics. Method: Graph theory was used to analyse topological properties of structural covariance networks across both conditions and relative to a neurotypical (NT; n = 87) group using data from the ABIDE (autism; n = 62) and ADHD-200 datasets (ADHD; n = 69). Regional cortical thickness was used to construct the structural covariance networks. This was analysed in a theoretical framework examining potential differences in long and short-range connectivity, with a specific focus on relation between central graph measures and cortical thickness. Results: We found convergence between autism and ADHD, where both conditions show an overall decrease in CT covariance with increased Euclidean distance between centroids compared with a NT population. The 2 conditions also show divergence. Namely, there is less modular overlap between the 2 conditions than there is between each condition and the NT group. The ADHD group also showed reduced cortical thickness and lower degree in hub regions than the autism group. Lastly, the ADHD group also showed reduced wiring costs compared with the autism groups. Conclusions: Our results indicate a need for taking an integrated approach when considering highly comorbid conditions such as autism and ADHD. Furthermore, autism and ADHD both showed alterations in the relation between inter-regional covariance and centroid distance, where both groups show a steeper decline in covariance as a function of distance. The 2 groups also diverge on modular organization, cortical thickness of hub regions and wiring cost of the covariance network. Thus, on some network features the groups are distinct, yet on others there is convergence.
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3. Chan W, Smith LE, Hong J, Greenberg JS, Mailick MR. {{Validating the social responsiveness scale for adults with autism}}. {Autism Res}. 2017.
The Social Responsiveness Scale [SRS; Constantino & Gruber, 2005] is a widely-used measure of autism symptoms, but its application for the study of adults with autism spectrum disorders has not been fully evaluated. Using a factor structure consistent with The Diagnostic and Statistical Manual of Mental Disorders (5th ed., DSM-V) criteria for autism spectrum disorder [Frazier et al., 2014], the primary purpose of the current study was to establish the validity of the SRS with a sample of adults with autism spectrum disorder (N = 237). Correlational analyses indicated that SRS factors were highly associated with autism symptoms and behavioral measures, indicating concurrent and predictive validity. Multiple regression results demonstrated that SRS factors were differentially related to measures specific to social or behavioral domains, indicating convergent and discriminant validity. Implications for future research are discussed. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Engelhardt PE, Alfridijanta O, McMullon MEG, Corley M. {{Speaker-Versus Listener-Oriented Disfluency: A Re-examination of Arguments and Assumptions from Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
We re-evaluate conclusions about disfluency production in high-functioning forms of autism spectrum disorder (HFA). Previous studies examined individuals with HFA to address a theoretical question regarding speaker- and listener-oriented disfluencies. Individuals with HFA tend to be self-centric and have poor pragmatic language skills, and should be less likely to produce listener-oriented disfluency. However, previous studies did not account for individual differences variables that affect disfluency. We show that both matched and unmatched controls produce fewer repairs than individuals with HFA. For silent pauses, there was no difference between matched controls and HFA, but both groups produced more than unmatched controls. These results identify limitations in prior research and shed light on the relationship between autism spectrum disorders and disfluent speech.
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5. Estes A, Munson J, John TS, Dager SR, Rodda A, Botteron K, Hazlett H, Schultz RT, Zwaigenbaum L, Piven J, Guralnick MJ. {{Parent Support of Preschool Peer Relationships in Younger Siblings of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Preschool-aged siblings of children with ASD are at high-risk (HR) for ASD and related challenges, but little is known about their emerging peer competence and friendships. Parents are the main providers of peer-relationship opportunities during preschool. Understanding parental challenges supporting early peer relationships is needed for optimal peer competence and friendships in children with ASD. We describe differences in peer relationships among three groups of preschool-aged children (15 HR-ASD, 53 HR-NonASD, 40 low-risk, LR), and examine parent support activities at home and arranging community-based peer activities. Children with ASD demonstrated precursors to poor peer competence and friendship outcomes. Parents in the HR group showed resilience in many areas, but providing peer opportunities for preschool-age children with ASD demanded significant adaptations.
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6. Farmer GD, Baron-Cohen S, Skylark WJ. {{People With Autism Spectrum Conditions Make More Consistent Decisions}}. {Psychol Sci}. 2017: 956797617694867.
People with autism spectrum conditions (ASC) show reduced sensitivity to contextual stimuli in many perceptual and cognitive tasks. We investigated whether this also applies to decision making by examining adult participants’ choices between pairs of consumer products that were presented with a third, less desirable « decoy » option. Participants’ preferences between the items in a given pair frequently switched when the third item in the set was changed, but this tendency was reduced among individuals with ASC, which indicated that their choices were more consistent and conventionally rational than those of control participants. A comparison of people who were drawn from the general population and who varied in their levels of autistic traits revealed a weaker version of the same effect. The reduced context sensitivity was not due to differences in noisy responding, and although the ASC group took longer to make their decisions, this did not account for the enhanced consistency of their choices. The results extend the characterization of autistic cognition as relatively context insensitive to a new domain, and have practical implications for socioeconomic behavior.
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7. Filippini A, Bonini D, Lacoux C, Pacini L, Zingariello M, Sancillo L, Bosisio D, Salvi V, Mingardi J, La Via L, Zalfa F, Bagni C, Barbon A. {{Absence of the Fragile X Mental Retardation Protein results in defects of RNA editing of neuronal mRNAs in mouse}}. {RNA Biol}. 2017: 0.
The fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the absence of FMRP, a protein regulating RNA metabolism. Recently, an unexpected function of FMRP in modulating the activity of Adenosine Deaminase Acting on RNA (ADAR) enzymes has been reported both in Drosophila and Zebrafish. ADARs are RNA-binding proteins that increase transcriptional complexity through a post-transcriptional mechanism called RNA editing. In order to evaluate the ADAR2-FMRP interaction in mammals we analysed several RNA editing re-coding sites in the fmr1 knockout (KO) mice. Ex vivo and in vitro analysis revealed that absence of FMRP lead to an increase in the editing levels of brain specific mRNAs, indicating that FMRP might act as an inhibitor of editing activity. Proximity Ligation Assay (PLA) in mouse primary cortical neurons and in non-neuronal cells revealed that ADAR2 and FMRP co-localize in the nucleus. The ADAR2-FMRP co-localization was further observed by double-immunogold Electron Microscopy (EM) in the hippocampus. Moreover, ADAR2-FMRP interaction appeared to be RNA independent. Because changes in the editing pattern are associated with neuropsychiatric and neurodevelopmental disorders, we propose that the increased editing observed in the fmr1-KO mice might contribute to the FXS molecular phenotypes.
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8. Havdahl KA, Bishop SL, Suren P, Oyen AS, Lord C, Pickles A, von Tetzchner S, Schjolberg S, Gunnes N, Hornig M, Lipkin WI, Susser E, Bresnahan M, Magnus P, Stenberg N, Reichborn-Kjennerud T, Stoltenberg C. {{The influence of parental concern on the utility of autism diagnostic instruments}}. {Autism Res}. 2017.
The parental report-based Autism Diagnostic Interview-Revised (ADI-R) and the clinician observation-based Autism Diagnostic Observation Schedule (ADOS) have been validated primarily in U.S. clinics specialized in autism spectrum disorder (ASD), in which most children are referred by their parents because of ASD concern. This study assessed diagnostic agreement of the ADOS-2 and ADI-R toddler algorithms in a more broadly based sample of 679 toddlers (age 35-47 months) from the Norwegian Mother and Child Cohort. We also examined whether parental concern about ASD influenced instrument performance, comparing toddlers identified based on parental ASD concern (n = 48) and parent-reported signs of developmental problems (screening) without a specific concern about ASD (n = 400). The ADOS cutoffs showed consistently well-balanced sensitivity and specificity. The ADI-R cutoffs demonstrated good specificity, but reduced sensitivity, missing 43% of toddlers whose parents were not specifically concerned about ASD. The ADI-R and ADOS dimensional scores agreed well with clinical diagnoses (area under the curve >/= 0.85), contributing additively to their prediction. On the ADI-R, different cutoffs were needed according to presence or absence of parental ASD concern, in order to achieve comparable balance of sensitivity and specificity. These results highlight the importance of taking parental concern about ASD into account when interpreting scores from parental report-based instruments such as the ADI-R. While the ADOS cutoffs performed consistently well, the additive contributions of ADI-R and ADOS scores to the prediction of ASD diagnosis underscore the value of combining instruments based on parent accounts and clinician observation in evaluation of ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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9. Malaia E, Cockerham D, Rublein K. {{Visual integration of fear and anger emotional cues by children on the autism spectrum and neurotypical peers: An EEG study}}. {Neuropsychologia}. 2017.
Communication deficits in children with autism spectrum disorders (ASD) are often related to inefficient interpretation of emotional cues, which are conveyed visually through both facial expressions and body language. The present study examined ASD behavioral and ERP responses to emotional expressions of anger and fear, as conveyed by the face and body. Behavioral results showed significantly faster response times for the ASD than for the typically developing (TD) group when processing fear, but not anger, in isolated face expressions, isolated body expressions, and in the integration of the two. In addition, EEG data for the N170 and P1 indicated processing differences between fear and anger stimuli only in TD group, suggesting that individuals with ASD may not be distinguishing between emotional expressions. These results suggest that ASD children may employ a different neural mechanism for visual emotion recognition than their TD peers, possibly relying on inferential processing.
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10. Mengoni SE, Irvine K, Thakur D, Barton G, Dautenhahn K, Guldberg K, Robins B, Wellsted D, Sharma S. {{Feasibility study of a randomised controlled trial to investigate the effectiveness of using a humanoid robot to improve the social skills of children with autism spectrum disorder (Kaspar RCT): a study protocol}}. {BMJ Open}. 2017; 7(6): e017376.
INTRODUCTION: Interventions using robot-assisted therapy may be beneficial for the social skills development of children with autism spectrum disorder (ASD); however, randomised controlled trials (RCTs) are lacking. The present research aims to assess the feasibility of conducting an RCT evaluating the effectiveness of a social skills intervention using Kinesics and Synchronisation in Personal Assistant Robotics (Kaspar) with children with ASD. METHODS AND ANALYSIS: Forty children will be recruited. Inclusion criteria are the following: aged 5-10 years, confirmed ASD diagnosis, IQ over 70, English-language comprehension, a carer who can complete questionnaires in English and no current participation in a private social communication intervention. Children will be randomised to receive an intervention with a therapist and Kaspar, or with the therapist only. They will receive two familiarisation sessions and six treatment sessions for 8 weeks. They will be assessed at baseline, and at 10 and 22 weeks after baseline. The primary outcome of this study is to evaluate whether the predetermined feasibility criteria for a full-scale trial are met. The potential primary outcome measures for a full-scale trial are the Social Communication Questionnaire and the Social Skills Improvement System. We will conduct a preliminary economic analysis. After the study has ended, a sample of 20 participants and their families will be invited to participate in semistructured interviews to explore the feasibility and acceptability of the study’s methods and intervention. ETHICS AND DISSEMINATION: Parents/carers will provide informed consent, and children will give assent, where appropriate. Care will be taken to avoid pressure or coercion to participate. Aftercare is available from the recruiting NHS Trust, and a phased withdrawal protocol will be followed if children become excessively attached to the robot. The results of the study will be disseminated to academic audiences and non-academic stakeholders, for example, families of children with ASD, support groups, clinicians and charities. TRIAL REGISTRATION NUMBER: ISRCTN registry (ISRCTN14156001); Pre-results.
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11. Niu M, Han Y, Dy ABC, Du J, Jin H, Qin J, Zhang J, Li Q, Hagerman RJ. {{Fragile X Syndrome: Prevalence, Treatment, and Prevention in China}}. {Front Neurol}. 2017; 8: 254.
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. Although FXS has been studied for several decades, there is relatively little basic science or clinical research being performed on FXS in China. Indeed, there is a large gap between China and Western countries in the FXS field. China has a potentially large number of FXS patients. However, many of them are underdiagnosed or even misdiagnosed, and treatments are not always administered in the Chinese population. This review discusses the prevalence, treatment, and prevention of FXS in China to facilitate an understanding of this disease in the Chinese population.
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12. Soke GN, Rosenberg SA, Rosenberg CR, Vasa RA, Lee LC, DiGuiseppi C. {{Self-injurious behaviors in children with autism spectrum disorder enrolled in the Study to Explore Early Development}}. {Autism}. 2017: 1362361316689330.
We assessed potential factors associated with « current » or « ever » self-injurious behaviors, reported in the Autism Diagnostic Interview-Revised, among children with autism spectrum disorder (n = 692) from the Study to Explore Early Development. Data on factors examined were obtained from questionnaires, standardized clinical instruments, and birth certificates. We employed a log-binomial regression to assess these associations. Although most associations were quite similar for currently and ever exhibiting self-injurious behaviors, a few differences were noted. We documented previously unreported associations of current self-injurious behaviors with maternal age and cesarean delivery, and ever self-injurious behaviors with maternal age, child sex, gestational age, and maternal race. We also confirmed previously reported associations with adaptive skills, somatic conditions (sleep, gastrointestinal, and sensory abnormalities), and other behavioral problems. These findings are informative for clinical practice and future research.
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13. Stadelmaier R, Nasri H, Deutsch CK, Bauman M, Hunt A, Stodgell CJ, Adams J, Holmes LB. {{Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism}}. {Birth Defects Res}. 2017.
BACKGROUND: Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure to VPA has also been associated with an increased frequency of autism spectrum disorder (ASD). An increased cephalic index (the ratio of the cranial lateral width to the cranial anterior-posterior length) has been observed in children with ASD. METHODS: Forty-seven children exposed to VPA during the first trimester of pregnancy were evaluated for dysmorphic facial features, identified subjectively and by measurements. Each VPA-exposed child was evaluated for ASD using the Social Communication Questionnaire, Autism Diagnostic Interview-Revised, and Autism Diagnostic Observation Schedule. The same physical examination was carried out on an unexposed comparison group of 126 children. The unexposed children also had testing for cognitive performance by the Wechsler Intelligence Scale for Children. RESULTS: Several dysmorphic craniofacial features, including telecanthus, wide philtrum, and increased length of the upper lip were identified subjectively. Anthropometric measurements confirmed the increased intercanthal distance and documented additional findings, including an increased cephalic index and decreased head circumference/height index. There were no differences between the craniofacial features of VPA-exposed children with and without ASD. CONCLUSION: An increased frequency of dysmorphic craniofacial features was identified in children exposed to VPA during the first trimester of pregnancy. The most consistent finding was a larger cephalic index, which indicates a disproportion of increased width of the skull relative to the shortened anterior-posterior length. Birth Defects Research, 2017.(c) 2017 Wiley Periodicals, Inc.
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14. Tang J, Yu Y, Yang W. {{Long noncoding RNA and its contribution to autism spectrum disorders}}. {CNS Neurosci Ther}. 2017.
Recent studies have indicated that long noncoding RNAs (lncRNAs) play important roles in multiple processes, such as epigenetic regulation, gene expression regulation, development, nutrition-related and other diseases, toxic response, and response to drugs. Although the functional roles and mechanisms of several lncRNAs have been discovered, a better understanding of the vast majority of lncRNAs remains elusive. To understand the functional roles and mechanisms of lncRNAs is critical because these transcripts represent the majority of the transcriptional output of the mammalian genome. Recent studies have also suggested that lncRNAs are more abundant in the human brain and are involved in neurodevelopment and neurodevelopmental disorders, including autism spectrum disorders (ASDs). In this study, we review several known functions of lncRNAs and the potential contribution of lncRNAs to ASDs and to other genetic syndromes that have a similar clinical presentation to ASDs, such as fragile X syndrome and Rett syndrome.
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15. Ventola P, Lei J, Paisley C, Lebowitz E, Silverman W. {{Parenting a Child with ASD: Comparison of Parenting Style Between ASD, Anxiety, and Typical Development}}. {J Autism Dev Disord}. 2017.
Parenting children with ASD has a complex history. Given parents’ increasingly pivotal role in children’s treatment, it is critical to consider parental style and behaviours. This study (1) compares parenting style of parents of children with ASD, parents of children with anxiety disorders, and parents of typically developing (TD) children and (2) investigates contributors to parenting style within and between groups. Parents of children with anxiety had a distinct parenting style compared to ASD and TD parents. Unique relationships between child symptoms and parenting behaviours emerged across the three groups. Understanding factors that impact parenting between and within clinical groups can guide the development of interventions better tailored to support the needs of parents, particularly parents of children with ASD.
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16. Vlaskamp C, Oranje B, Madsen GF, Mollegaard Jepsen JR, Durston S, Cantio C, Glenthoj B, Bilenberg N. {{Auditory processing in autism spectrum disorder: Mismatch negativity deficits}}. {Autism Res}. 2017.
Children with autism spectrum disorders (ASD) often show changes in (automatic) auditory processing. Electrophysiology provides a method to study auditory processing, by investigating event-related potentials such as mismatch negativity (MMN) and P3a-amplitude. However, findings on MMN in autism are highly inconsistent, partly due to small sample sizes in the studies and differences in MMN paradigms. Therefore, in the current study, MMN and P3a amplitude were assessed in a relatively large sample of children with ASD, using a more extensive MMN paradigm and compared with that of typically developing children (TDC). Thirty-five children (aged 8-12 years) with ASD and 38 age and gender matched TDC were assessed with a MMN paradigm with three types of deviants, i.e., frequency, duration and a combination of these two. MMN elicited by duration and frequency-duration deviants was significantly reduced in the ASD group. P3a-amplitude elicited by duration deviants was significantly increased in the ASD group. Reduced MMN in children with ASD suggests that children with ASD may be less responsive to environmentally deviant stimuli at an early (sensory) level. P3a-amplitude was increased in ASD, implying a hyper-responsivity at the attentional level. In addition, as similar MMN deficits are found in schizophrenia, these MMN results may explain some of the frequently reported increased risk of children with ASD to develop schizophrenia later in life. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
