1. Alonso-Esteban Y, Marco R, Hedley D, Uljarevie M, Barbaro J, Canal-Bedia R, Alcantud-Marin F. {{Screening instruments for early detection of autism spectrum disorder in Spanish speaking communities}}. {Psicothema}. 2020; 32(2): 245-52.
BACKGROUND: Since autism detection protocols rely primarily on parental accounts of early symptoms, the use by Spanish-speaking populations of screening tools developed in a different language and socio-cultural context (usually English) might hamper the success of early detection programs. METHOD: A systematic search in four databases was completed, identifying 59 tools used for ASD detection. Of these, only nine tools had been applied in Spanish-speaking populations, and of those, only five can be considered specific tools for the early detection of autism. RESULTS: Sensitivity detecting autism was generally lower in the Spanish versions of the reviewed instruments, while specificity tended to be equal to or higher than that reported in the original screeners. CONCLUSIONS: Heterogeneity and poor methodological rigor of the studies conducted to date emphasize an urgent need for a concerted effort to develop reliable and valid instruments for the early detection of autism in Spanish-speaking populations worldwide.
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2. Azim A, Rdesinski RE, Phelps R, Zuckerman KE. {{Nonclinical Factors in Autism Diagnosis: Results From a National Health Care Provider Survey}}. {J Dev Behav Pediatr}. 2020.
OBJECTIVE: The prevalence of autism spectrum disorder (ASD) has increased 10-fold in the past 40 years, and disparities have been noted by race/ethnicity and socioeconomic status, prompting concern about diagnostic accuracy. Provider perceptions of ASD diagnostic accuracy are not known. We conducted a survey of providers who diagnose ASD assessing how nonclinical factors might affect ASD diagnostic rates. METHODS: The mixed-mode survey was sent to the members of the Society of Developmental and Behavioral Pediatrics with clinical interest in ASD (n = 400). Respondents used a Likert-type scale to address how often they and their colleagues overdiagnosed or underdiagnosed ASD. They were also asked how families grouped by race/ethnicity, education, socioeconomic status, and urbanicity perceived an ASD diagnosis. RESULTS: Sixty-three percent of providers completed the survey. Eight point seven percent of providers self-reported that they overdiagnose ASD at least sometimes. However, 58% of providers reported that local colleagues overdiagnose ASD at least sometimes. Seven point eight percent of providers self-reported underdiagnosing ASD at least sometimes and cited parents not wanting a diagnosis as one of the most common reasons they may underdiagnose. Providers reported that non-white and rural families were more likely to think that ASD diagnosis was « a bad thing » than « a good thing » than white and urban and suburban families, respectively. CONCLUSION: Providers report moderate rates of ASD misdiagnosis and perceive differences in diagnostic preferences according to family characteristics. The study results may help explain the trends and disparities in ASD diagnosis.
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3. Bednarz HM, Trapani JA, Kana RK. {{Metacognition and behavioral regulation predict distinct aspects of social functioning in autism spectrum disorder}}. {Child Neuropsychol}. 2020: 1-29.
Executive function (EF) deficits are common in autism spectrum disorder (ASD), and previous studies suggest that EF may influence or predict social functioning. Thus, EF is a potential treatment target in this population. However, the nature of how specific metacognition and behavioral regulation components of EF may differentially impact social function remains unclear. The goal of the current study was to examine the relationships between sub-components of EF (e.g., working memory, shifting, inhibition, etc.) and social functioning as measured by parent ratings on the Behavior Rating Inventory of Executive Functioning (BRIEF) and the Social Responsiveness Scale (SRS), while controlling for the influence of age, sex, and IQ. A second goal was to examine whether BRIEF scores were predictive of clinician-rated measures of ASD symptoms. Behavioral data were acquired from the Autism Brain Imaging Data Exchange-II database and included 106 children with ASD (ages 5-13). Based on analysis of parent ratings, self-monitoring skills predicted social awareness; shifting ability predicted social cognition; working memory and monitoring skills predicted social communication; initiation predicted social motivation; and shifting ability predicted restrictive and repetitive behaviors among children with ASD. Parent ratings on the BRIEF did not predict clinician-rated measures of ASD symptoms; this requires further study. Overall, the current findings indicate that metacognition and behavioral regulation both contribute to social functioning in ASD, although they each have distinct patterns of influence on different aspects of social functioning. These findings have promising implications for tailoring social interventions for ASD that target specific EF skills.
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4. Crane L, Hearst C, Ashworth M, Davies J, Hill EL. {{Supporting Newly Identified or Diagnosed Autistic Adults: An Initial Evaluation of an Autistic-Led Programme}}. {J Autism Dev Disord}. 2020.
Sixteen adults (diagnosed or self-identified as autistic) participated in one of two iterations of a ten-week autistic-led programme, aimed at helping autistic adults learn more about autism within a peer group context. Motivations for taking part in the programme included a desire for: (1) exploration of autism; (2) empowerment; and (3) the development of practical strategies and coping mechanisms. Interviews were conducted upon completion of the programme and again 6 months later. Using thematic analysis, three themes were identified: (1) appreciation of the autistic-led nature of the programme; (2) unity in diversity; and (3) developing a positive, practical outlook on autism. These promising initial results highlight the value of autistic-led peer support for those recently diagnosed/identified as autistic.
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5. Fellowes S. {{The Importance of Getting Kanner’s Account Right in Debates over First Descriptions of Autism}}. {J Autism Dev Disord}. 2020.
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6. Hanrahan R, Smith E, Johnson H, Constantin A, Brosnan M. {{A Pilot Randomised Control Trial of Digitally-Mediated Social Stories for Children on the Autism Spectrum}}. {J Autism Dev Disord}. 2020.
Social stories is a widely used intervention for children on the autism spectrum, particularly within an educational context. To date, systematic reviews and meta analyses of the research evaluating social stories has produced mixed results, often due to a lack of methodological rigour and variability in the development and delivery of the social stories. To address the gap in methodological rigour, a pilot Randomised Control Trial (RCT) was conducted, incorporating a social stories intervention group (n = 9 children on the autism spectrum) and an attentional control group who received a poem (n = 6 children on the autism spectrum) using a digital platform to address variability. Digitally-mediated social stories were found to be effective in producing beneficial changes in behaviour outcomes, which were sustained at a six-week follow up.
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7. Hill J, Ziviani J, Driscoll C, Teoh AL, Chua JM, Cawdell-Smith J. {{Canine Assisted Occupational Therapy for Children on the Autism Spectrum: A Pilot Randomised Control Trial}}. {J Autism Dev Disord}. 2020.
Children on the autism spectrum frequently display difficulties engaging with people and with functional tasks. A pilot, randomised control trial was completed to explore the impact of canine assisted occupational therapy on the on-task behaviours and goal attainment of autistic children when compared to occupational therapy sessions as usual. Twenty-two children between the ages of 4, and 6 years and 11 months, were randomly placed in either the treatment group (n-11) or waitlist control group (n = 11). Results showed that although there was a positive trend for on-task behaviour and goal attainment within the treatment group, results were not statistically significant. These results support the need for further research in the area of canine assisted occupational therapy for autistic children.
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8. Jenabi E, Seyedi M, Hamzehei R, Bashirian S, Rezaei M, Razjouyan K, Khazaei S. {{The association between assisted reproductive technology and autism spectrum disorders in Iran: A case-control study}}. {Clinical and experimental pediatrics}. 2020.
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by impairments in social interaction and verbal and non-verbal communication. Purpose: determinate the association between use of assisted reproduction technology (ART) and the risk of ASD among children. Methods: This case-control study con notducted on 300 participants (100 case and 200 control) in 2019. The control group were women who had child aged 2-10 years without ASD and the cases group were women who had child with ASD aged 2-10 years. We used a researcher-made questionnaire. Data were analyzed using the Stata ver. 14 at 0.05 significance level. Results: In univariable analysis, there was significant association between child’s gender, type of delivery, having history of preterm delivery, mothers with history of using ART and maternal age at child’s birth were potentially associated with higher odds of ASD. While After adjusting for other variables, this association was significant for boy’s gender 2.66 (95% CI: 1.11, 4.31, P =0.001) and history of using ART 4.03 (1.76, 9.21, P=0.001). Therefore, after adjusting for confounder variables, there was not significant association between ART and the risk of ASD among children 4.98 (0.91, 27.30, P=0.065). Conclusion: Our findings showed that after adjusting for other variables, risk factors for ASD were boy gender and history preterm delivery for children with ASD. Therefore, after adjusting for confounder variables, there was not significant association between ART and the risk of ASD among children.
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9. Kang J, Han X, Song J, Niu Z, Li X. {{The identification of children with autism spectrum disorder by SVM approach on EEG and eye-tracking data}}. {Computers in biology and medicine}. 2020; 120: 103722.
OBJECTIVE: To identify autistic children, we used features extracted from two modalities (EEG and eye-tracking) as input to a machine learning approach (SVM). METHODS: A total of 97 children aged from 3 to 6 were enrolled in the present study. After resting-state EEG data recording, the children performed eye-tracking tests individually on own-race and other-race stranger faces stimuli. Power spectrum analysis was used for EEG analysis and areas of interest (AOI) were selected for face gaze analysis of eye-tracking data. The minimum redundancy maximum relevance (MRMR) feature selection method combined with SVM classifiers were used for classification of autistic versus typically developing children. RESULTS: Results showed that classification accuracy from combining two types of data reached a maximum of 85.44%, with AUC = 0.93, when 32 features were selected. LIMITATIONS: The sample consisted of children aged from 3 to 6, and no younger patients were included. CONCLUSIONS: Our machine learning approach, combining EEG and eye-tracking data, may be a useful tool for the identification of children with ASD, and may help for diagnostic processes.
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10. Kruth KA, Grisolano TM, Ahern CA, Williams AJ. {{SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?}}. {Mol Autism}. 2020; 11(1): 23.
Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers’ attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel NaV1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patient-derived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism.
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11. Peters BC, Wood W, Hepburn S, Bundy A. {{Pilot Study: Occupational Therapy in an Equine Environment for Youth With Autism}}. {OTJR : occupation, participation and health}. 2020: 1539449220912723.
Despite growing prevalence, research investigating occupational therapy incorporating horses for youth with autism is limited. This study aimed to (a) pilot a screening, evaluation, and intervention protocol of occupational therapy in an equine environment and (b) assess preliminary effects on occupational performance goals, behavior, and social functioning of youth with autism. A multiple baseline single-case experimental design was used. Six youth with autism participated in a no-treatment baseline phase and 10 weeks of intervention. Therapists implemented the intervention with 95% fidelity. Per parent report, participants improved in occupational performance goals, social motivation, and communication; four demonstrated decreased irritability and hyperactivity. This research operationalizes a screening, evaluation, and intervention protocol for occupational therapy in an equine environment, and demonstrates it may improve occupational, behavioral, and social outcomes for youth with autism. Next steps include manualizing the intervention, refining feasibility measures, and implementing a randomized controlled efficacy study.
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12. Rotem RS, Chodick G, Shalev V, Davidovitch M, Koren G, Hauser R, Coull BA, Seely EW, Nguyen VT, Weisskopf MG. {{Maternal Thyroid Disorders and Risk of Autism Spectrum Disorder in Progeny}}. {Epidemiology (Cambridge, Mass)}. 2020; 31(3): 409-17.
BACKGROUND: Maternal thyroid dysfunction is suspected of causing adverse neurodevelopmental effects, but current evidence is inconclusive. Epidemiologic investigations generally suggest an association between maternal thyroid dysfunction and neurodevelopment impairments in progeny, but clinical trials of thyroid treatment during pregnancy reported null effects. To better understand these discrepant findings, we evaluated the association between maternal thyroid conditions and autism spectrum disorder (ASD), including examining the role of gestational thyroid-related hormone concentrations and thyroid medications use. METHODS: Analyses considered 437,222 singleton live births occurring in a large Israeli health fund in 1999-2013, followed through 2016. Thyroid conditions and ASD cases were identified through International Classification of Diseases-9 codes with subsequent validation through review of medical records. Laboratory gestational thyroid hormone measurements were also considered. RESULTS: Children of mothers who ever experienced hypothyroidism had a higher risk of ASD compared with children of mothers without hypothyroidism (adjusted odds ratio [aOR] = 1.26, 95% confidence interval [CI] = 1.12, 1.42). The association with hyperthyroidism was less consistent, but elevated in main analyses (aOR = 1.42, 95% CI = 1.04, 1.94). These associations were not explained by maternal gestational thyroid hormones levels nor mitigated by gestational use of thyroid medications. CONCLUSIONS: Results indicate that maternal thyroid conditions are associated with increased ASD risk in progeny, but suggestively not due to direct effects of thyroid hormones. Instead, factors that influence maternal thyroid function could have etiologic roles in ASD through pathways independent of maternal gestational thyroid hormones and thus be unaffected by medication treatment. Factors known to disrupt thyroid function should be examined for possible involvement in ASD etiology.
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13. Shepherd D, Landon J, Goedeke S, Meads J. {{The Cold Shoulder or a Shoulder to Cry on? Mechanisms of Formal and Informal Social Support in the ASD Parenting Context}}. {J Autism Dev Disord}. 2020.
The underlying mechanisms by which social support exerts its (typically) positive effects on parental wellbeing are still being investigated in the autism spectrum disorder (ASD) context. Parents (n = 674) of a child with ASD responded to questions probing parenting stress, parent psychological health, their child’s ASD symptoms, and the types of social supports they were currently utilising. Hierarchical multiple linear regression analyses examined whether social support moderated or mediated (or neither) the relationships between: (a) parent-rated child ASD symptoms and parenting stress, and (b) parenting stress and parent psychological health. The main findings were that none of the mediating models reached statistical significance, while 7/20 moderation analyses were significant, though significance was dependent upon how social support was operationalised.
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14. Simoes M, Mouga S, Pereira AC, de Carvalho P, Oliveira G, Castelo-Branco M. {{Virtual Reality Immersion Rescales Regulation of Interpersonal Distance in Controls but not in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Interpersonal distance (IPD) is a simple social regulation metric which is altered in autism. We performed a stop-distance paradigm to evaluate IPD regulation in autism spectrum disorder (ASD) and control groups in a real versus a virtual environment mimicking in detail the real one. We found a bimodal pattern of IPDs only in ASD. Both groups showed high IPD correlations between real and virtual environments, but the significantly larger slope in the control group suggests rescaling, which was absent in ASD. We argue that loss of nuances like non-verbal communication, such as perception of subtle body gestures in the virtual environment, lead to changed regulation of IPD in controls, whilst ASD participants show similar deficits in perceiving such subtle cues in both environments.
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15. Snyder W, Troiani V. {{Behavioural profiling of autism connectivity abnormalities – Erratum}}. {BJPsych open}. 2020; 6(3): e35.
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16. Turgeon S, Lanovaz MJ, Dufour MM. {{Effects of an Interactive Web Training to Support Parents in Reducing Challenging Behaviors in Children with Autism}}. {Behav Modif}. 2020: 145445520915671.
Many children with autism spectrum disorder (ASD) engage in challenging behaviors, which may interfere with their daily functioning, development, and well-being. To address this issue, we conducted a four-week randomized waitlist control trial to examine the effects of a fully self-guided interactive web training (IWT) on (a) child engagement in challenging behaviors and (b) parental intervention. After 4 weeks, parents in the treatment group reported lower levels of challenging behaviors in their children and more frequent use of behavioral interventions than those in the waitlist groups. Furthermore, within-group analyses suggest that these changes persisted up to 12 weeks following completion of the IWT. Our results highlight the potential utility of web training, but our high attrition rate and potential side effects prevent us from recommending the training as a standalone treatment.
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17. Walker SC, Williams K, Moore DJ. {{Superior identification of component odours in a mixture is linked to autistic traits in children and adults}}. {Chemical senses}. 2020.
Most familiar odours are complex mixtures of volatile molecules which the olfactory system automatically synthesises into a perceptual whole. However, odours are rarely encountered in isolation, thus the brain must also separate distinct odour objects from complex and variable backgrounds. In vision, autistic traits are associated with superior performance in tasks that require focus on the local features of a perceptual scene. The aim of the present study was to determine whether the same advantage was observed in the analysis of olfactory scenes. To do this, we compared the ability of (i) Forty young adults (aged 16-35) with high (n=20) and low levels of autistic traits and, (ii) Twenty children (aged 7-11), with (n=10) and without an autism spectrum disorder diagnosis, to identify individual odour objects presented within odour mixtures. First, we used a 4-alternative forced choice task to confirm both adults and children were able to reliably identify eight blended fragrances, representing food related odours, when presented individually. We then used the same forced-choice format to test participants’ ability to identify the odours when they were combined in either binary or ternary mixtures. Adults with high levels of autistic traits showed superior performance on binary but not ternary mixture trials. While children with an autism spectrum disorder diagnosis outperformed age matched neurotypical peers, irrespective of mixture complexity. These findings indicate, the local processing advantages associated with high levels of autistic traits in visual tasks are also apparent in a task requiring analytical processing of odour mixtures.
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18. Xie X, Meng H, Wu H, Hou F, Chen Y, Zhou Y, Xue Q, Zhang J, Gong J, Li L, Song R. {{Integrative analyses indicate an association between ITIH3 polymorphisms with autism spectrum disorder}}. {Sci Rep}. 2020; 10(1): 5223.
It is challenge to pinpoint the functional variants among numerous genetic variants. Investigating the spatial dynamics of the human brain transcriptome for genes and exploring the expression quantitative trait loci data may provide the potential direction to identify the functional variants among autism spectrum disorders (ASD) patients. In order to explore the association of ITIH3 with ASD, the present study included three components: identifying the spatial-temporal expression of ITIH3 in the developing human brain using the expression data from the Allen Institute for Brain Science; examining the cis-acting regulatory effect of SNPs on the ITIH3 expression using UK Brain Expression Consortium database; validating the effect of identified SNPs using a case-control study with samples of 602 cases and 604 controls. The public expression data showed that ITIH3 may have a role in the development of human brain and suggested a cis-eQTL effect for rs2535629 and rs3617 on ITIH3 in the hippocampus. Genetic analysis of the above two SNPs suggested that the over-dominant model of rs2535629 was significantly associated with decreased risk of ASD. Convergent lines of evidence supported ITIH3 rs25352629 as a susceptibility variant for ASD.
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19. Zaro C, Jeon H, Harstad E, Conrad C, Solomon D, Augustyn M. {{Questioning a Previous Autism Spectrum Disorder Diagnosis: Can You « Lose » the Diagnosis?}}. {J Dev Behav Pediatr}. 2020.
CASE: Heidi is an almost 6-year-old girl presenting to your primary care office to establish care because of a change in insurance status. You review her previous medical records before seeing her.She was diagnosed with autism spectrum disorder (ASD) when she was 25 months old. Her parents were initially concerned about language delay. Through a comprehensive evaluation by a developmental-behavioral pediatrician and a child psychologist, including administration of the Bayley Scales of Infant and Toddler Development and the Autism Diagnostic Observation Schedule, she was diagnosed with ASD. Her cognitive skills were reported to be within the average range. Soon after the diagnosis, she began receiving 20 hours of applied behavioral analysis (ABA) per week, as well as music therapy, occupational therapy, and a toddler playgroup through early intervention. Four months after the initial diagnosis, her parents reported that she had started making small improvements in her behavior, used more eye contact, and seemed more socially engaged. Approximately 1 year after the diagnosis, she was receiving 6 hours of ABA per week in addition to starting preschool with an Individualized Education Program. She reportedly continued to show progress with social communication and pretend play skills.At the age of 3 years, 8 months, neuropsychological testing was completed at her parent’s request, and her cognitive skills and adaptive skills were reported to be within the average range. She continued to meet the diagnostic criteria for ASD, given her challenges with social awareness, communication, delayed play skills, decreased flexibility, and tendency toward subtle self-direction. She continued to receive speech/language therapy and attended an integrated preschool program within the school district because of her social and communication challenges. She also received ABA 4 hours weekly at home.During your first visit with Heidi, her parents report that she has continued to make progress in all areas, including social skills. She can engage in imaginary play with her friends, ask strangers questions, and comprehend the perspective of others, and she is no longer « rigid. » She is not receiving services outside of school and is only receiving once weekly speech/language therapy in school. Her parents no longer believe that she meets the criteria for ASD, and they are interested in further evaluation. Her parents ask if it is possible to « lose » the diagnosis of ASD. They also want to know if there are other things to be concerned about for her future. How do you respond?
