1. Bitsika V, Sharpley CF, Sweeney JA, Andronicos NM, Agnew LL, Arnold WM. {{A comparison of age, cognitive, hormonal, symptomatic and mood correlates of Aggression towards Others in boys with ASD}}. {Res Dev Disabil};2017 (Mar 06)
BACKGROUND: Aggression is a major problem in children with Autism Spectrum Disorder (ASD) but little is known about the possible contributors to this behaviour. AIMS: To determine the relative strength of the relationships between developmental, cognitive, symptomatic, hormonal and mood factors and ‘Aggression towards Others’ in boys with ASD. METHOD: Predictors of Aggression towards Others were investigated in a sample of 136 boys with Autism Spectrum Disorder (M age=11.3yr, SD=3.2yr, range=6yr to 17yr). Data were collected from the boys themselves and their parents (14 fathers, 122 mothers). RESULTS: Results indicated that age and Low Registration on the Sensory Profile were the only significant correlates of this form of aggression. Importantly, testosterone levels did not account for level of social aggression. CONCLUSIONS: These data suggest that these boys may have learnt more effective methods of dealing with their frustration as they grew older or benefitted from cognitive maturation, and that having a high neurological threshold may be a source of frustration for these boys. The relationship between Aggression towards Others and Low Registration is discussed and clinical implications of the findings explicated.
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2. Guo H, Peng Y, Hu Z, Li Y, Xun G, Ou J, Sun L, Xiong Z, Liu Y, Wang T, Chen J, Xia L, Bai T, Shen Y, Tian Q, Hu Y, Shen L, Zhao R, Zhang X, Zhang F, Zhao J, Zou X, Xia K. {{Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort}}. {Sci Rep};2017 (Mar 10);7:44155.
Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with high heritability, although the underlying genetic determinants of ASDs remain largely unknown. Large-scale whole-genome studies of copy number variation in Han Chinese samples are still lacking. We performed a genome-wide copy number variation analysis of 343 ASD trios, 203 patients with sporadic cases and 988 controls in a Chinese population using Illumina genotyping platforms to identify CNVs and related genes that may contribute to ASD risk. We identified 32 rare CNVs larger than 1 Mb in 31 patients. ASD patients were found to carry a higher global burden of rare, large CNVs than controls. Recurrent de novo or case-private CNVs were found at 15q11-13, Xp22.3, 15q13.1-13.2, 3p26.3 and 2p12. The de novo 15q11-13 duplication was more prevalent in this Chinese population than in those with European ancestry. Several genes, including GRAMD2 and STAM, were implicated as novel ASD risk genes when integrating whole-genome CNVs and whole-exome sequencing data. We also identified several CNVs that include known ASD genes (SHANK3, CDH10, CSMD1) or genes involved in nervous system development (NYAP2, ST6GAL2, GRM6). Besides, our study also implicated Contactins-NYAPs-WAVE1 pathway in ASD pathogenesis. Our findings identify ASD-related CNVs in a Chinese population and implicate novel ASD risk genes and related pathway for further study.
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3. Hogan AL, Caravella KE, Ezell J, Rague L, Hills K, Roberts JE. {{Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective Case Series}}. {J Autism Dev Disord};2017 (Mar 09)
No studies to date have prospectively examined early autism spectrum disorder (ASD) markers in infants with fragile X syndrome (FXS), who are at elevated risk for ASD. This paper describes the developmental profiles of eight infants with FXS from 9 to 24 months of age. Four meet diagnostic criteria for ASD at 24 months of age, and four do not. Trends in these case studies suggest that early social-communicative deficits differentiate infants with and without later ASD diagnoses in ways that are similar to later-born siblings of children with ASD. Repetitive behaviors and cognitive and adaptive impairments are present in all FXS infants throughout development, suggesting that these deficits reflect the general FXS phenotype and not ASD in FXS specifically.
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4. Jiujias M, Kelley E, Hall L. {{Restricted, Repetitive Behaviors in Autism Spectrum Disorder and Obsessive-Compulsive Disorder: A Comparative Review}}. {Child Psychiatry Hum Dev};2017 (Mar 09)
This review paper critically examines literature regarding restricted and repetitive behaviors (RRBs) in Autism Spectrum Disorder (ASD) and Obsessive-Compulsive Disorder (OCD). The similar behavioral profiles of these disorders presents the potential for confusion regarding diagnoses and intervention efforts. As such, this review highlights the similarities and differences between RRBs in ASD and OCD. The developmental trajectories of RRBs are presented, followed by an exploration of three constructs implicated in RRB manifestation: anxiety, executive functioning, and sensory phenomena. While RRBs tend to develop with some similarity in both disorders, the differing role of anxiety highlights important distinctions between ASD and OCD. We urge researchers and clinicians to think critically about the dimensions that affect RRB presentation. Future research should use this review as a starting point to further elucidate the differences between RRBs in these two populations.
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5. Lussu M, Noto A, Masili A, Rinaldi AC, Dessi A, De Angelis M, De Giacomo A, Fanos V, Atzori L, Francavilla R. {{The urinary 1 H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings}}. {Autism Res};2017 (Mar 11)
Autism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined. The purpose of this study was to evaluate the potential use of 1 H-NMR metabolomics to analyze the global biochemical signature of ASD patients (n = 21) and controls (n = 21), these being siblings of autistic patients. A multivariate model has been used to extrapolate the variables of importance. The discriminating urinary metabolites were identified; in particular, significantly increased levels of hippurate, glycine, creatine, tryptophan, and d-threitol and decreased concentrations of glutamate, creatinine, lactate, valine, betaine, and taurine were observed in ASD patients. Based on the identified discriminant metabolites, the attention was focused on two possible mechanisms that could be involved in ASD: oxidative stress conditions and gut microflora modifications. In conclusion, nuclear magnetic resonance-based metabolomics analysis of the urine seems to have the potential for the identification of a metabolic fingerprint of ASD phenotypes and appears to be suitable for further investigation of the disease mechanisms. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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6. McPhee PG, Gorter JW. {{A life course approach to increase physical activity in individuals with Rett syndrome}}. {Dev Med Child Neurol};2017 (Mar 11)
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7. Moskowitz LJ, Walsh CE, Mulder E, McLaughlin DM, Hajcak G, Carr EG, Zarcone JR. {{Intervention for Anxiety and Problem Behavior in Children with Autism Spectrum Disorder and Intellectual Disability}}. {J Autism Dev Disord};2017 (Mar 11)
There is little research on the functional assessment and treatment of anxiety and related problem behavior in children with autism spectrum disorder (ASD), particularly those with intellectual and developmental disability (IDD). In a recent study, we evaluated a multimethod strategy for assessing anxiety in children with ASD and IDD (Am J Intellect Dev Disabil 118:419-434, 2013). In the present study, we developed treatments for the anxiety and associated problem behavior in these same children. A multiple baseline design was used to evaluate the effectiveness of a multicomponent intervention package, incorporating individualized strategies from Positive Behavior Support and Cognitive Behavioral Therapy. During intervention, all three participants showed substantial decreases in anxiety and problem behavior and significant increases in respiratory sinus arrhythmia in the situations that had previously been identified as anxiety-provoking.
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8. Murray K, Johnston K, Cunane H, Kerr C, Spain D, Gillan N, Hammond N, Murphy D, Happe F. {{A new test of advanced theory of mind: The « Strange Stories Film Task » captures social processing differences in adults with autism spectrum disorders}}. {Autism Res};2017 (Mar 11)
Real-life social processing abilities of adults with autism spectrum disorders (ASD) can be hard to capture in lab-based experimental tasks. A novel measure of social cognition, the « Strange Stories Film task’ (SSFt), was designed to overcome limitations of available measures in the field. Brief films were made based on the scenarios from the Strange Stories task (Happe) and designed to capture the subtle social-cognitive difficulties observed in ASD adults. Twenty neurotypical adults were recruited to pilot the new measure. A final test set was produced and administered to a group of 20 adults with ASD and 20 matched controls, alongside established social cognition tasks and questionnaire measures of empathy, alexithymia and ASD traits. The SSFt was more effective than existing measures at differentiating the ASD group from the control group. In the ASD group, the SSFt was associated with the Strange Stories task. The SSFt is a potentially useful tool to identify social cognitive dis/abilities in ASD, with preliminary evidence of adequate convergent validity. Future research directions are discussed. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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9. Pongsaksri M, Lersilp S, Suchart S. {{Development and Reliability of the Basic Skill Assessment Tool for Adolescents with Autism Spectrum Disorder}}. {ScientificWorldJournal};2017;2017:2403943.
The purpose of this study was to improve upon the first version of the basic work skills assessment tool for adolescents with autism spectrum disorder (ASD) and examine interrater and intrarater reliability using Intraclass Correlation Coefficient (ICC). The modified tool includes 2 components: (1) three tasks measuring work abilities and work attitudes and (2) a form to record the number of verbal and nonverbal prompts. 26 participants were selected by purposive sampling and divided into 3 groups-group 1 (10 subjects, aged 11-13 years), group 2 (10, aged 14-16 years), and group 3 (6, aged 17-19 years). The results show that interrater reliabilities of work abilities and work attitudes were high in all groups except that the work attitude in group 1 was moderate. Intrarater reliabilities of work abilities in group 1 and group 2 were high. Group 3 was moderate. Intrarater reliabilities of work attitudes in group 1 and group 3 were high but not in group 2 in which they were moderate. Nevertheless, interrater and intrarater reliabilities in the total scores of all groups were high, which implies that this tool is applicable for adolescents aged 11-19 years with consideration of relevance for each group.
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10. Siper PM, Kolevzon A, Wang AT, Buxbaum JD, Tavassoli T. {{A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD}}. {Autism Res};2017 (Mar 11)
Sensory reactivity, including hyperreactivity, hyporeactivity, and sensation seeking, is a new criterion for autism spectrum disorder (ASD) in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). However, there is no consensus on how to reliably measure sensory reactivity, particularly in minimally verbal individuals. The current study is an initial validation of the Sensory Assessment for Neurodevelopmental Disorders (SAND), a novel clinician-administered observation and corresponding caregiver interview that captures sensory symptoms based on DSM-5 criteria for ASD. DSM-5 criteria of sensory hyperreactivity, hyporeactivity, and seeking behaviors are measured across visual, auditory, and tactile domains. Children with ASD showed significantly more sensory reactivity symptoms compared to typically developing (TD) children across sensory domains (visual, tactile, and auditory) and within each sensory subtype (hyperreactivity, hyporeactivity, and seeking). Psychometric properties including internal consistency, inter-rater reliability, test-retest reliability, and convergent validity were all strong. The SAND provides a novel method to characterize sensory reactivity symptoms based on DSM-5 criteria for ASD. This is the first known sensory assessment that combines a clinician-administered observation and caregiver interview to optimally capture sensory phenotypes characteristic of individuals with neurodevelopmental disorders. The SAND offers a beneficial new tool for both research and clinical purposes and has the potential to meaningfully enhance gold-standard assessment of ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Yu X, Qiu Z, Zhang D. {{Recent Research Progress in Autism Spectrum Disorder}}. {Neurosci Bull};2017 (Apr);33(2):125-129.
