1. {{Erratum Re: Relationship Between Neonatal Vitamin D at Birth and Risk of Autism Spectrum Disorders: the NBSIB Study}}. {J Bone Miner Res}. 2018; 33(3): 550.
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2. Burgio E, Leo I, Lucangeli D. {{The Little Prince: is not a glimpse into the world of autism}}. {Arch Dis Child}. 2018.
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3. Cashin A, Yorke J. {{The Relationship between Anxiety, External Structure, Behavioral History and Becoming Locked into Restricted and Repetitive Behaviors in Autism Spectrum Disorder}}. {Issues in mental health nursing}. 2018: 1-5.
Restricted and repetitive behaviors (RRBs) are central to the diagnosis of autism spectrum disorder (ASD), yet there remains a paucity of research in this domain. What is clear is that people with ASD are vulnerable to getting locked into rigid patterns of thought and behavior that contribute to a lack of adaptation. This study utilized an online survey to explore the relationship between anxiety, external structure, the measurement of RRBs and behavioral history of being locked into RRBs. A significant relationship was identified between level of anxiety and a history of becoming locked into RRBs. The likelihood of becoming locked into RRBs increased at times of decreased external structure in the routine of people with ASD.
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4. Catalano D, Holloway L, Mpofu E. {{Mental Health Interventions for Parent Carers of Children with Autistic Spectrum Disorder: Practice Guidelines from a Critical Interpretive Synthesis (CIS) Systematic Review}}. {Int J Environ Res Public Health}. 2018; 15(2).
Parent carers of children with Autism Spectrum Disorder (ASD) often report increased levels of stress, depression, and anxiety. Unmet parent carer mental health needs pose a significant risk to the psychological, physical, and social well-being of the parents of the child affected by ASD and jeopardize the adaptive functioning of the family as well as the potential of the child affected by ASD. This systematic review identifies key qualities of interventions supporting the mental health of parent carers and proposes practitioner-parent carer support guidelines. A search of four databases (Medline, PubMed, PsycINFO, and Social Science Data) was conducted to identify studies that met the following criteria: (1) an intervention was delivered to parent carers of a child with ASD under the age of 18 years; (2) the research design allowed for a comparison on outcomes across groups; and (3) outcome measures of the parent carers’ mental health were used. A total of 23 studies met the inclusion criteria. A critical interpretive synthesis approach was used to produce an integrated conceptualization of the evidence. Findings suggest practitioner guidelines to support the mental health and wellbeing of parent carers should include addressing the parent’s self-perspective taking and skill for real time problem-solving.
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5. Dachew BA, Mamun A, Maravilla JC, Alati R. {{Pre-eclampsia and the risk of autism-spectrum disorder in offspring: meta-analysis}}. {The British journal of psychiatry : the journal of mental science}. 2018; 212(3): 142-7.
BACKGROUND: Evidence about the effect of intrauterine exposure to pre-eclampsia on offspring autism-spectrum disorder (ASD) is not well established. Aims To examine the association between pre-eclampsia and ASD. METHOD: PubMed, Embase and PsycINFO databases were searched. Pooled relative risks (RR) with 95% confidence intervals were calculated. Subgroup and sensitivity analyses were performed. Heterogeneity was assessed using Cochran’s Q- and the I 2-test. The presence of publication bias was evaluated by Egger’s test and visual inspection of the symmetry in funnel plots. RESULTS: Ten studies meet the inclusion criteria. The risk of ASD was 32% higher in offspring who had intrauterine exposure to pre-eclampsia compared with those not exposed (RR = 1.32, 95% CI 1.20-1.45). Sensitivity analysis revealed consistent pooled estimates ranging from RR = 1.30 (95% CI 1.17-1.44) to RR = 1.37 (95% CI 1.26-1.48). We found no significant heterogeneity and evidence of publication bias. CONCLUSION: Pre-eclampsia increased the risk of ASD in offspring. The finding suggests a need for early screening for ASD in offspring of women with pre-eclampsia. Declaration of interest None.
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6. Davidson D, Hilvert E, Misiunaite I, Giordano M. {{Proneness to guilt, shame, and pride in children with Autism Spectrum Disorders and neurotypical children}}. {Autism Res}. 2018.
Self-conscious emotions (e.g., guilt, shame, and pride) are complex emotions that require self-reflection and self-evaluation, and are thought to facilitate the maintenance of societal norms and personal standards. Despite the importance of self-conscious emotions, most research has focused on basic emotion processing in children with Autism Spectrum Disorders (ASD). Therefore, in the present study, we used the Test of Self-Conscious Affect for Children (TOSCA-C) to assess proneness to, or propensity to experience, the self-conscious emotions guilt, shame, and pride in children with ASD and neurotypical children. The TOSCA-C is designed to capture a child’s natural tendency to experience a given emotion across a range of everyday situations [Tangney, Stuewig, & Mashek, 2007]. We also assessed how individual characteristics contribute to the development of proneness to self-conscious emotions, including theory of mind (ToM) and ASD symptomatology. In comparison to neurotypical children, children with ASD showed less proneness to guilt, although all children showed relatively high levels of proneness to guilt. Greater ToM ability was related to more proneness to guilt and authentic pride in children with ASD. Additionally, we found that children with ASD with more severe symptomatology were more prone to hubristic pride. Our results provide evidence of differences in proneness to self-conscious emotions in children with ASD, as well as highlight important mechanisms contributing to how children with ASD may experience self-conscious emotions. Autism Res 2017,4. (c)2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This research examined proneness to guilt, shame, and pride in children with Autism Spectrum Disorders (ASD) and neurotypical children. We found that children with ASD showed less proneness to guilt than neurotypical children. Better understanding of theory of mind was related to greater proneness to guilt and pride, but only for children with ASD. These findings are important because these complex emotions are linked with both positive and negative social behaviors towards others and oneself.
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7. Foss-Feig JH, Stavropoulos KKM, McPartland JC, Wallace MT, Stone WL, Key AP. {{Electrophysiological response during auditory gap detection: Biomarker for sensory and communication alterations in autism spectrum disorder?}}. {Developmental neuropsychology}. 2018; 43(2): 109-22.
Sensory symptoms, including auditory processing deficits, are common in autism spectrum disorder (ASD). Processing of temporal aspects of auditory input is understudied; yet, deficits in this domain could contribute to language-related impairments. In children with ASD and well-matched controls, this study examined electrophysiological response to silent gaps in auditory stimuli. Results revealed attenuated amplitude of the P2 event-related potential (ERP) component in ASD. The P2 amplitude reduction was also associated with sensory, language, and diagnostic features. These results suggest that neural response during auditory gap detection is a promising ASD biomarker that could be useful for stratifying subgroups and evaluating treatment response.
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8. Fuentes-Albero M, Cauli O. {{Homocysteine levels in autism spectrum disorder: A clinical update}}. {Endocrine, metabolic & immune disorders drug targets}. 2018.
Homocysteine (Hcy) is a non-protein alpha-amino acid, which plays several important roles in human physiology and in the central nervous system. Although Hcy has several known biological properties in one-carbon metabolism, its overproduction might be harmful and could add to the pathophysiology associated with autism spectrum disorder (ASD). This review presents updated information about alterations in the concentration of this amino acid in biological fluids (blood and urine) in patients with ASD. In addition, we assessed its clinical significance by analyzing if there are any potential associations between abnormal Hcy levels and the severity ASD or any of its symptoms. Further research is still needed to correlate the occurrence of increased Hcy levels with specific symptoms/deficits in ASD and to evaluate the clinical impact on ASD of strategies that can reduce the Hcy concentration.
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9. Glineburg MR, Todd PK, Charlet-Berguerand N, Sellier C. {{Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome}}. {Brain Res}. 2018.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and dementia associated with mild brain atrophy. The cause of FXTAS is a premutation expansion, of 55 to 200 CGG repeats localized within the 5’UTR of FMR1. These repeats are transcribed in the sense and antisense directions into mutants RNAs, which have increased expression in FXTAS. Furthermore, CGG sense and CCG antisense expanded repeats are translated into novel proteins despite their localization in putatively non-coding regions of the transcript. Here we focus on two proposed disease mechanisms for FXTAS: 1) RNA gain-of-function, whereby the mutant RNAs bind specific proteins and preclude their normal functions, and 2) repeat-associated non-AUG (RAN) translation, whereby translation through the CGG or CCG repeats leads to the production of toxic homopolypeptides, which in turn interfere with a variety of cellular functions. Here, we analyze the data generated to date on both of these potential molecular mechanisms and lay out a path forward for determining which factors drive FXTAS pathogenicity.
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10. Hirata K, Egashira K, Harada K, Nakashima M, Hirotsu M, Isomura S, Watanuki T, Matsubara T, Kaku Y, Kaneyuki H, Watanabe Y, Matsuo K. {{Differences in frontotemporal dysfunction during social and non-social cognition tasks between patients with autism spectrum disorder and schizophrenia}}. {Sci Rep}. 2018; 8(1): 3014.
Although literature evidence suggests deficits in social and non-social cognition in patients with autistic spectrum disorder (ASD) and schizophrenia (SCZ), the difference in neural correlates of the impairments between the two disorders has not been elucidated. We examined brain function in response to a non-social cognition and a social cognition task using functional near-infrared spectroscopy (fNIRS) in 13 patients with ASD, 15 patients with SCZ, and 18 healthy subjects. We assessed the brain function of participants using a verbal fluency task and an emotional facial recognition task. The patients with ASD showed significantly reduced brain activation in the left frontotemporal area during both tasks compared to healthy subjects. The patients with ASD with larger score in ‘attention to detail’ in the autism spectrum quotient showed lower activation of the left frontotemporal area during the two tasks. The patients with SCZ showed significantly reduced activation, compared to healthy subjects, and greater activation, compared to patients with ASD, in the area during the verbal fluency task. The patients with SCZ with more severe symptoms had lower brain activation during the task in this area. Our results suggest that two distinct areas are involved in the distinctive brain pathophysiology relevant to cognitive processing in patients with ASD and SCZ.
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11. Isaksson S, Salomaki S, Tuominen J, Arstila V, Falter-Wagner CM, Noreika V. {{Is there a generalized timing impairment in Autism Spectrum Disorders across time scales and paradigms?}}. {Journal of psychiatric research}. 2018; 99: 111-21.
Individuals with ASD have abnormal motor and perceptual functions that do not currently form diagnostic criteria of ASD, but nevertheless may affect everyday behaviour. Temporal processing seems to be one of such non-diagnostic yet impaired domains, although the lack of systematic studies testing different aspects of timing in the same sample of participants prevents a conclusive assessment of whether there is a generalized temporal deficit in ASD associated with diagnostic symptoms. 17 children diagnosed with ASD and 18 typically developing age- and IQ-matched controls carried out a set of motor and perceptual timing tasks: free tapping, simultaneity judgment, auditory duration discrimination, and verbal duration estimation. Parents of participants filled in a questionnaire assessing the sense and management of time. Children with ASD showed faster and more variable free tapping than controls. Auditory duration discrimination thresholds were higher in the ASD group than controls in a sub-second version of the task, while there were no group differences in a supra-second discrimination of intervals. Children with ASD showed more variable thresholds of simultaneity judgment, and they received lower parental scores for their sense and management of time. No group differences were observed in the verbal duration estimation task in the minute-range. Different timing functions were correlated in the ASD group but not among controls, whilst several timing measures correlated with ASD symptoms. We conclude that children with ASD show a broad range of abnormalities in temporal processing tasks including motor timing, perceptual timing, and temporal perspective.
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12. Kaya C, Hanley-Maxwell C, Chan F, Tansey T. {{Differential vocational rehabilitation service patterns and outcomes for transition-age youth with autism}}. {J Appl Res Intellect Disabil}. 2018.
BACKGROUND: It is important to investigate receipt of vocational rehabilitation (VR) services, service patterns and outcomes for youth with autism, so that limited public resources can be used more efficiently. METHOD: This study used chi-squared automatic interaction detector, and multivariate logistic regression analysis to investigate relationships between demographic variables, receipt of VR services and employment outcomes for transition-age youth (TAY) with Autism. RESULTS: The results indicate that gender, education level and cash benefits are significant predictors of employment outcomes. After controlling for the effect of demographic variables, several VR services (i.e., job placement, on-the-job support, on-the-job training, maintenance, other services, information referral, and diagnostic and treatment services) were significantly associated with competitive employment. CONCLUSIONS: Overall, the results indicate that job-related services were significantly related to employment outcomes for TAY with Autism; therefore, it is important these youths are provided with more targeted job placements and supported employment services (Wehman et al., ).
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13. Nguyen AT, Mattiassi S, Loeblein M, Chin E, Ma D, Coquet P, Viasnoff V, Teo EHT, Goh EL, Yim E. {{Human Rett-derived neuronal progenitor cells in 3D graphene scaffold as an in vitro platform to study the effect of electrical stimulation on neuronal differentiation}}. {Biomedical materials (Bristol, England)}. 2018.
Studies of electrical stimulation therapies for the treatment of neurological disorders, such as deep brain stimulation, have almost exclusively been performed using animal-models. However, because animal-models can only approximate human brain disorders, these studies should be supplemented with an in vitro human cell-culture based model to substantiate the results of animal-based studies and further investigate therapeutic benefit in humans. This study presents a novel approach to analyse the effect of electrical stimulation on the neurogenesis of patient-induced pluripotent stem cell (iPSC) derived neural progenitor cell (NPC) lines, in vitro using a 3D graphene scaffold system. The iPSC-derived hNPCs used to demonstrate the system were collected from patients with Rett syndrome, a debilitating neurodevelopmental disorder. The graphene scaffold readily supported both the wild-type and Rett NPCs. Electrical stimulation parameters were optimized to accommodate both wild-type and Rett cells. Increased cell maturation and improvements in cell morphology of the Rett cells was observed after electrical stimulation. The results of the pilot study of electrical stimulation to enhance Rett NPCs neurogenesis were promising and support further investigation of the therapy. Overall, this system provides a valuable tool to study electrical stimulation as a potential therapy for neurological disorders using patient-specific cells.
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14. Rotem RS, Chodick G, Davidovitch M, Hauser R, Coull BA, Weisskopf MG. {{Congenital Abnormalities of the Male Reproductive System and Risk of Autism Spectrum Disorders}}. {American journal of epidemiology}. 2018.
Androgens have an extensive influence on brain development in regions of the brain that are relevant for autism spectrum disorder (ASD), yet their etiological involvement remains unclear. Hypospadias (abnormal positioning of the urethral opening) and cryptorchidism (undescended testes) are 2 relatively common male birth defects that are strongly associated with prenatal androgen deficiencies. Having either disorder is a proxy indicator of atypical gestational androgen exposure, yet the association between these disorders and autism has not been extensively studied. We analyzed male singleton live births (n = 224,598) occurring from January 1, 1999, through December 31, 2013, in a large Israeli health-care organization. Boys with autism, cryptorchidism, and hypospadias were identified via International Classification of Diseases, Ninth Revision, codes, with further verification of autism case status by review of medical records. In multivariable-adjusted analyses, the odds ratio for ASD among boys with either condition was 1.62 (95% confidence interval (CI): 1.44, 1.82). The odds ratio for boys with cryptorchidism only was 1.55 (95% CI: 1.34, 1.78), and that for boys with hypospadias only was 1.65 (95% CI: 1.38, 1.98). ASD risk was not elevated among unaffected brothers of hypospadias or cryptorchidism cases, despite familial aggregation of all 3 conditions, providing some indication for the possibility of pregnancy-specific risk factors driving the observed associations. Results suggest that in-utero hypoandrogenicity could play a role in ASD etiology.
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15. Schieve LA, Shapira SK. {{Invited Commentary: Male Reproductive System Congenital Malformations and the Risk of Autism Spectrum Disorder}}. {American journal of epidemiology}. 2018.
Autism spectrum disorder (ASD) is a prevalent developmental disorder. Studies indicate that while ASD etiology has a genetic component, the risk is polygenic, with gene-environment interactions being likely. The prenatal period is a critical exposure window for nongenetic risk factors. Previous studies have found positive associations between congenital malformations (all types) and ASD; a few also found specific associations between genitourinary system malformations and ASD; and one study found an association between hypospadias and ASD. In the accompanying article, Rotem et al. (Am J Epidemiol. 2018;000(00):000-000) describe how they conducted a comprehensive analysis focusing on the shared risk of ASD with hypospadias or cryptorchidism, using existing data from a large Israeli health services system, which afforded several advantages because of the large sample size and low attrition of the patient population. The authors conducted a careful analysis, including sensitivity analyses, to account for risk factor and case misclassifications that might have occurred had they relied solely on preexisting diagnostic codes to define exposures and outcome. They observed positive associations between both hypospadias and cryptorchidism and ASD that were independent of numerous sociodemographic and pregnancy health factors. This study advances our understanding of ASD etiology and illustrates how existing data might be used to assess some ASD risk factors.
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16. Thabtah F. {{Machine learning in autistic spectrum disorder behavioral research: A review and ways forward}}. {Informatics for health & social care}. 2018: 1-20.
Autistic Spectrum Disorder (ASD) is a mental disorder that retards acquisition of linguistic, communication, cognitive, and social skills and abilities. Despite being diagnosed with ASD, some individuals exhibit outstanding scholastic, non-academic, and artistic capabilities, in such cases posing a challenging task for scientists to provide answers. In the last few years, ASD has been investigated by social and computational intelligence scientists utilizing advanced technologies such as machine learning to improve diagnostic timing, precision, and quality. Machine learning is a multidisciplinary research topic that employs intelligent techniques to discover useful concealed patterns, which are utilized in prediction to improve decision making. Machine learning techniques such as support vector machines, decision trees, logistic regressions, and others, have been applied to datasets related to autism in order to construct predictive models. These models claim to enhance the ability of clinicians to provide robust diagnoses and prognoses of ASD. However, studies concerning the use of machine learning in ASD diagnosis and treatment suffer from conceptual, implementation, and data issues such as the way diagnostic codes are used, the type of feature selection employed, the evaluation measures chosen, and class imbalances in data among others. A more serious claim in recent studies is the development of a new method for ASD diagnoses based on machine learning. This article critically analyses these recent investigative studies on autism, not only articulating the aforementioned issues in these studies but also recommending paths forward that enhance machine learning use in ASD with respect to conceptualization, implementation, and data. Future studies concerning machine learning in autism research are greatly benefitted by such proposals.
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17. Traynor JM, Doyle-Thomas KAR, Hanford LC, Foster NE, Tryfon A, Hyde KL, Anagnostou E, Evans AC, Zwaigenbaum L, Hall GBC. {{Indices of repetitive behaviour are correlated with patterns of intrinsic functional connectivity in youth with autism spectrum disorder}}. {Brain Res}. 2018; 1685: 79-90.
The purpose of the current study was to examine how repetitive behaviour in Autism Spectrum Disorder (ASD) is related to intrinsic functional connectivity patterns in a number of large-scale, neural networks. Resting-state fMRI scans from thirty subjects with ASD and thirty-two age-matched, typically developing control subjects were analysed. Seed-to-voxel and ROI-to-ROI functional connectivity analyses were used to examine resting-state connectivity in a number of cortical and subcortical neural networks. Bivariate correlation analysis was performed to examine the relationship between repetitive behaviour scores from the Repetitive Behaviour Scale – Revised and intrinsic functional connectivity in ASD subjects. Compared to control subjects, ASD subjects displayed marked over-connectivity of the thalamus with several cortical sensory processing areas, as well as over-connectivity of the basal ganglia with somatosensory and motor cortices. Within the ASD group, significant correlations were found between functional connectivity patterns and total RBS-R scores as well as one principal component analysis-derived score from the RBS-R. These results suggest that thalamocortical resting-state connectivity is altered in individuals with ASD, and that resting-state functional connectivity is associated with ASD symptomatology.
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18. Zhang J, Meng Y, Tong X, Yuan Z, Wu C, Ieong SL. {{Exploring the neural correlates of lexical stress perception in english among Chinese-English bilingual children with autism spectrum disorder: An ERP study}}. {Neurosci Lett}. 2018; 666: 158-64.
Previous studies found that individuals with autism spectrum disorder (ASD) were less sensitive to the variations of lexical stress in their native language than typically developing controls. However, no study has been conducted to explore the perception of lexical stress in the second language among individuals with ASD. Using ERPs (event-related potentials) measurement with an oddball paradigm, the current study examined and compared the neural responses by Chinese-English bilingual children with ASD and typically developing controls in the processing of English lexical stress. The results showed that when compared with typically developing controls, children with ASD manifested reduced MMN (mismatch negativity) amplitude at the left temporal-parietal and parietal sites, indicating that they were less sensitive to lexical stress. However, a more negative MMN response was found for ASD group than for typically developing group at the right central-parietal, temporal-parietal, and temporal sites. In addition, the right hemisphere was more activated than the left hemisphere for ASD group, which might be derived from the reversed asymmetry of brain activation for individuals with ASD when processing language-related stimuli.
