1. Akcimen M, Bedel C. {{Comparison between new modified external rotation method and external rotation method for reduction of ASD}}. {Am J Emerg Med};2019 (Jul 2)
INTRODUCTION: Dislocation of the shoulder joint is common and is mainly anterior. Several reduction methods have been described and the external reduction method (ERM) is one of the newest. We modified the ERM by making some additions in hopes to develop a less painful, quick and simple method. The aim of this study was to compare the new modified external rotation reduction method (MERM) with ERM in acute anterior shoulder dislocations (ASD). METHODS: A total of 62 patients with ASD were classified randomly into 2 groups. The reduction was performed with MERM in one group and with ERM in the other group and the results were compared. Patients’ pain scores, reduction time, success rate of the reduction methods, age, sex, dislocation side, dislocation time, previous dislocations history, injury mechanism, any complications, reduction time and neurovascular examination were collected. Parametric and nonparametric analyses were used to compare MERM and ERM. RESULTS: The study cohort consisted of 62 patients (52 males, 10 females; mean age, 35years; age range, 18-73years) who were randomly assigned to treatment with the MERM (n=32) or the ERM (n=30). There was a statistically significant difference between the two methods in terms of time, and the MERM can be applied much faster than ERM (1.34+/-1.41min vs 3.05+/-1.93min; p<0.001). The intra-reduction VAS pain score was not significantly in patients who were treated with MERM (85.31+/-10.39 vs. 78.33+/-16.54; p=0.122). CONCLUSION: MERM can be an alternate method compared to the ERM for the reduction of ASD. Lien vers le texte intégral (Open Access ou abonnement)
2. Bharath R, Moodithaya SS, Bhat SU, Mirajkar AM, Shetty SB. {{Comparison of Physiological and Biochemical Autonomic Indices in Children with and without Autism Spectrum Disorders}}. {Medicina (Kaunas)};2019 (Jul 7);55(7)
Background and objectives: Autism Spectrum Disorder (ASD) is a complex neuro-developmental disorder and it has been suggested that symptoms of ASD are associated with neural networks that regulate the Autonomic Nervous System (ANS). However, the nature of autonomic atypicalities in ASDs remain largely unknown. Measures like Heart Rate Variability (HRV) and urinary Vanillylmandelic Acid (VMA) estimation are sensitive and non-invasive physiological and biochemical indicators of autonomic nervous activity. This study aimed to compare the physiological and biochemical autonomic indices in children with and without ASD. Materials and Methods: In this case-control study, 40 children with autism and 40 Typically Developing (TD) children were recruited. Measures of physiological autonomic index were assessed by the analysis of short term HRV, and the urinary levels of VMA estimation was used as a biochemical autonomic index. Results: Cardiac sympathetic activity assessed by Low Frequency (nu) of HRV was significantly higher in the ASD group in comparison with the TD group (p = 0.006). On the contrary, both the High Frequency (abs) and (nu) of HRV were found to be significantly lower in autistic children (p = 0.034 and p = 0.000) than controls. Autistic children also exhibited a significantly higher level (p = 0.049) of VMA concentration compared to TD children. Conclusion: The study concludes that children with ASD exhibit lower cardio-vagal activity as measured by HRV and increased sympathetic activity as assessed by urinary VMA compared to that of TD children. The core autistic symptoms exhibited by children with ASD could be due to the differences in baseline arousal or stress which might be associated with autonomic dysfunction. Further studies are needed to examine the association of this autonomic dysregulation with ASD symptoms and comorbidities.
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3. Carpenter KL, Williams DM, Nicholson T. {{Putting Your Money Where Your Mouth is: Examining Metacognition in ASD Using Post-decision Wagering}}. {J Autism Dev Disord};2019 (Jul 10)
It has been argued that metacognition and mindreading rely on the same cognitive processes (Carruthers in The opacity of mind: an integrative theory of self-knowledge, Oxford University Press, Oxford, 2011). It is widely accepted that mindreading is diminished among individuals diagnosed with autism (Brunsdon and Happe in Autism 18(1):17-30, 2014), however, little is known about metacognition. This study examined metacognition in relation to mindreading and autism using post-decision wagering. Results from a student sample showed negative associations between autism traits and metacognitive accuracy, and metacognitive reaction times and mindreading. These findings were replicated in a general population sample, providing evidence of a reliable association between metacognition, mindreading and autism traits. However, adults diagnosed with autism showed equivalent levels of metacognitive accuracy to age- and IQ-matched comparison participants, albeit only with an overall increase in meta-level processing time.
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4. Cheung CC, Rong Y, Chen F, Chen S, Leung MT, Tang TPY, Peng G. {{Comprehension of literal statements and similes in Cantonese-speaking children with and without autism spectrum disorders}}. {Clin Linguist Phon};2019 (Jul 9):1-15.
While it has been proposed, following relevance theory, that similes can be understood at a purely literal level on a par with literal statements, it remains unclear whether children with high-functioning autism spectrum disorders (HFASD) perform similarly to typically developing (TD) children in comprehending literal statements and similes. The present study investigated comprehension of literal statements and similes in Cantonese-speaking children with HFASD and TD children matched on both chronological age and verbal mental age. An utterance-picture matching task was devised to assess their comprehension of literal statements and similes in Cantonese. Overall results showed that Cantonese-speaking children with HFASD performed worse than TD children in comprehending literal statements and similes, and both groups showed more difficulty in comprehending similes than literal statements. After the effects of chronological age and verbal mental age were controlled for, no group difference was found between children with HFASD and TD children in comprehending literal statements, whereas the group difference in simile comprehension still existed, suggesting that children with HFASD showed deficits in comprehending similes relative to TD children. These findings challenge the proposal that similes can be understood at a purely literal level on a par with literal statements. Future studies should investigate the role of different aspects of language ability and different levels of theory-of-mind skills in comprehension of similes and metaphors in children with HFASD.
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5. Constable PA, Bailey K, Beck A, Borrello D, Kozman M, Schneider K. {{Effect size of search superiority in autism spectrum disorder}}. {Clin Exp Optom};2019 (Jul 8)
This review of the literature in visual search superiority in autism was intended to quantify the effect size of visual search performance in autism. Not all studies have found an advantage within the autistic population. Early findings on search superiority have led to different proposed mechanisms for the observed results. A review of feature search found that the effect size was low across 15 included studies (Cohen’s d 0.089 [-0.150 to 0.293]). However, the effect size was larger for more complex search paradigms using a conjunctive search strategy with Cohen’s d showing a moderate effect of 0.223 (0.087 to 0.293). The majority of studies were limited to a small sample size and biased toward the high-functioning end of the autistic spectrum. The overall results indicate that within the autism spectrum disorder population there is a low to moderate search advantage compared to typically developing individuals.
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6. Eklof E, Martensson GE, Aden U, Padilla N. {{Reduced structural brain asymmetry during neonatal life is potentially related to autism spectrum disorders in children born extremely preterm}}. {Autism Res};2019 (Jul 9)
Disruption of the normal patterns of structural brain asymmetry, and in language-related areas, has been reported in individuals with autism spectrum disorder (ASD). We tested the hypothesis that 16 children born extremely preterm (EPT), and diagnosed with ASD at 6.5 years of age (EPT-ASD), would have different patterns of brain structural asymmetry, particularly in language-related areas, to 21 EPT children without ASD and 15 term-born children. They all underwent neonatal magnetic resonance imaging scans at 40 weeks of gestation. ASD diagnoses and the Weschler Intelligence Scale for Children-Fourth Edition, were performed in the EPT children, but not in the term group. Asymmetry indices (AIs) were assessed at three levels: global (hemispheres), lobar (brain lobes), and modular (primary sensorimotor, unimodal, and higher-order association areas). AIs were also assessed in language-related regions and correlational analyses were performed between these AIs and verbal scores. The EPT-ASD group showed reduced structural asymmetry at the modular level, mainly involving the higher-order association cortices and the language-related areas. Predominant positive correlations between language functioning and leftward AIs in the inferior frontal gyrus (opercular) and supplementary cortices, and rightward asymmetry in the angular and supramarginal gyri, were identified in the EPT-ASD group. The overall results suggest that reduced brain structural asymmetry identified during the neonatal period would be a risk factor for the development of ASD in EPT infants. This finding could identify EPT children at risk at an early stage, so that tailored interventions could be used to optimize their functions and quality of life. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Babies born before the expected date (preterm) are more likely to develop autism, due to abnormal brain development. Compared with children without autism, preterm children with autism did not display the important physical differences between the two sides of their brain that are needed for normal functioning. As this alteration was found just after birth, this information could be used to identify children who are likely to develop autism, so that they can get medical support at an earlier age.
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7. Goin-Kochel RP. {{On Measuring Regression in Autism Spectrum Disorder: A Commentary}}. {Neurosci Biobehav Rev};2019 (Jul 5)
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8. He Y, Su Q, Wang L, He W, Tan C, Zhang H, Ng ML, Yan N, Chen Y. {{The Characteristics of Intelligence Profile and Eye Gaze in Facial Emotion Recognition in Mild and Moderate Preschoolers With Autism Spectrum Disorder}}. {Front Psychiatry};2019;10:402.
Childhood autism spectrum disorder (ASD) can easily be misdiagnosed, due to the nonspecific social and communicational deficits associated with the disorder. The present study attempted to profile the mental development and visual attention toward emotion among preschool children with mild or moderate ASD who were attending mainstream kindergartens. A total of 21 children (17 boys and 4 girls) diagnosed with mild or moderate ASD selected from 5,178 kindergarteners from the Xi’an city were recruited. Another group of 21 typically developing (TD) children who were matched with age, gender, and class served as controls. All children were assessed using the Griffiths Mental Development Scales-Chinese (GDS-C), and their social visual attention was assessed during watching 20 ecologically valid film scenes by using eye tracking technique. The results showed that ASD children had lower mental development scores in the Locomotor, Personal-Social, Language, Performance, and Practical Reasoning subscales than the TD peers. Moreover, deficits in recognizing emotions from facial expressions based on naturalistic scene stimuli with voice were found for ASD children. The deficits were significantly correlated with their ability in social interaction and development quotient in ASD group. ASD children showed atypical eye-gaze pattern when compared to TD children during facial emotion expression task. Children with ASD had reduced visual attention to facial emotion expression, especially for the eye region. The findings confirmed the deficits of ASD children in real life multimodal of emotion recognition, and their atypical eye-gaze pattern for emotion recognition. Parents and teachers of children with mild or moderate ASD should make informed educational decisions according to their level of mental development. In addition, eye tracking technique might clinically help provide evidence diagnosing children with mild or moderate ASD.
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9. Johnston K, Murray K, Spain D, Walker I, Russell A. {{Executive Function: Cognition and Behaviour in Adults with Autism Spectrum Disorders (ASD)}}. {J Autism Dev Disord};2019 (Jul 8)
Studies of executive function (EF) in autism spectrum disorder (ASD) have reported mixed findings. Possible confounds include EF domain assessed and co-occurring neurodevelopmental diagnoses. EF task performance across multiple domains and everyday function of autistic adults (n = 110) was significantly different to age- and IQ-matched controls (n = 31). Although significantly more likely to fall into the clinically impaired range, 35.8% of the ASD group showed no impairment on EF measures. Factor analysis revealed a single unifying EF construct rather than a selective pattern of impairment. Dysexecutive behaviours were frequently reported in the ASD group, unrelated to Autism symptoms, EF task performance or co-occurring conditions. This study suggests autistic adults can experience clinically significant executive function difficulties and co-occuring dysexecutive behaviours that are disabling in everyday life.
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10. King JB, Prigge MBD, King CK, Morgan J, Weathersby F, Fox JC, Dean DC, 3rd, Freeman A, Villaruz JAM, Kane KL, Bigler ED, Alexander AL, Lange N, Zielinski B, Lainhart JE, Anderson JS. {{Generalizability and reproducibility of functional connectivity in autism}}. {Mol Autism};2019;10:27.
Background: Autism is hypothesized to represent a disorder of brain connectivity, yet patterns of atypical functional connectivity show marked heterogeneity across individuals. Methods: We used a large multi-site dataset comprised of a heterogeneous population of individuals with autism and typically developing individuals to compare a number of resting-state functional connectivity features of autism. These features were also tested in a single site sample that utilized a high-temporal resolution, long-duration resting-state acquisition technique. Results: No one method of analysis provided reproducible results across research sites, combined samples, and the high-resolution dataset. Distinct categories of functional connectivity features that differed in autism such as homotopic, default network, salience network, long-range connections, and corticostriatal connectivity, did not align with differences in clinical and behavioral traits in individuals with autism. One method, lag-based functional connectivity, was not correlated to other methods in describing patterns of resting-state functional connectivity and their relationship to autism traits. Conclusion: Overall, functional connectivity features predictive of autism demonstrated limited generalizability across sites, with consistent results only for large samples. Different types of functional connectivity features do not consistently predict different symptoms of autism. Rather, specific features that predict autism symptoms are distributed across feature types.
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11. Kolli S, Gujjula S. {{Autism and Piperacillin-tazobactam-induced Hypersensitivity Vasculitis: A Silent Malady}}. {Cureus};2019 (Apr 30);11(4):e4574.
Autism spectrum disorder (ASD) is a disorder affecting communication, with behaviors such as hyporesponsiveness to stimuli. When coupled with a lower threshold for allergic reactions, it can lead to a delayed identification of life-threatening anaphylaxis. It can also delay treatment for lesser complications such as with our patient, who developed a pruritic, erythematous rash as direct causation from piperacillin-tazobactam. This case addresses the delays in clinical care when approaching the administration of new medication in patients affected by autism.
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12. Lindsay S, Osten V, Rezai M, Bui S. {{Disclosure and workplace accommodations for people with autism: a systematic review}}. {Disabil Rehabil};2019 (Jul 7):1-14.
Purpose: The objective of this systematic review was to describe the prevalence and processes of disability disclosure for persons with autism spectrum disorder. Methods: Systematic searches of seven international databases revealed 26 studies meeting our inclusion criteria. We analyzed these studies with respect to participant demographics, methodology, results and quality of the evidence. Results: Among the 26 studies, 7006 participants (aged 13-75, mean 28.1 years) were represented across seven countries. Our findings showed that rates of disclosure and receiving workplace accommodations varied considerably. Benefits of disclosing in the workplace included greater acceptance and inclusion, receiving accommodations, and increasing awareness about autism. Limitations of disclosing to employers involved experiencing stigma and discrimination. Factors affecting decisions to disclose included age at diagnosis, social demands of the job, and workplace policies. Types of accommodations that were received or desired included adjustments to the job interview process, schedules (i.e., flexibility, working from home), job content or working conditions, environment (i.e., lighting, quiet space); support with communication and social skills; and disability awareness training for their workplace colleagues. Conclusions: Our findings highlight that disclosing a condition of autism in the workplace and requesting accommodations is complex. More research is needed to explore processes of disclosing and accommodation and how these processes vary by autism sub-type, gender, and industry type. Implications for rehabilitation Clinicians and vocational Counselors should support people with autism to advocate for their needs in the workplace, including the potential benefits of disclosing their conditions so they can access accommodations that allow them to keep healthy and productive in workplace. Clinicians should recognize that people with autism spectrum disorder may have different workplace accommodation needs than those with other types of disabilities, in particular support with social and communication skills. Clinicians should aid people with autism to access resources and supports that are available to them to access workplace accommodations.
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13. Micai M, Vulchanova M, Saldana D. {{Do Individuals with Autism Change Their Reading Behavior to Adapt to Errors in the Text?}}. {J Autism Dev Disord};2019 (Jul 10)
Reading monitoring is poorly explored, but it may have an impact on well-documented reading comprehension difficulties in autism. This study explores reading monitoring through the impact of instructions and different error types on reading behavior. Individuals with autism and matched controls read correct sentences and sentences containing orthographic and semantic errors. Prior to the task, participants were given instructions either to focus on semantic or orthographic errors. Analysis of eye-movements showed that the group with autism, differently from controls, were less influenced by the error’s type in the regression-out to-error measure, showing less change in eye-movements behavior between error types. Individuals with autism might find it more difficult to adapt their reading strategies to various reading materials and task demands.
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14. Neul JL. {{Can Rett syndrome be diagnosed before regression?}}. {Neurosci Biobehav Rev};2019 (Jul 5)
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15. Ning M, Daniels J, Schwartz J, Dunlap K, Washington P, Kalantarian H, Du M, Wall DP. {{Identification and Quantification of Gaps in Access to Autism Resources in the United States: An Infodemiological Study}}. {J Med Internet Res};2019 (Jul 10);21(7):e13094.
BACKGROUND: Autism affects 1 in every 59 children in the United States, according to estimates from the Centers for Disease Control and Prevention’s Autism and Developmental Disabilities Monitoring Network in 2018. Although similar rates of autism are reported in rural and urban areas, rural families report greater difficulty in accessing resources. An overwhelming number of families experience long waitlists for diagnostic and therapeutic services. OBJECTIVE: The objective of this study was to accurately identify gaps in access to autism care using GapMap, a mobile platform that connects families with local resources while continuously collecting up-to-date autism resource epidemiological information. METHODS: After being extracted from various databases, resources were deduplicated, validated, and allocated into 7 categories based on the keywords identified on the resource website. The average distance between the individuals from a simulated autism population and the nearest autism resource in our database was calculated for each US county. Resource load, an approximation of demand over supply for diagnostic resources, was calculated for each US county. RESULTS: There are approximately 28,000 US resources validated on the GapMap database, each allocated into 1 or more of the 7 categories. States with the greatest distances to autism resources included Alaska, Nevada, Wyoming, Montana, and Arizona. Of the 7 resource categories, diagnostic resources were the most underrepresented, comprising only 8.83% (2472/28,003) of all resources. Alarmingly, 83.86% (2635/3142) of all US counties lacked any diagnostic resources. States with the highest diagnostic resource load included West Virginia, Kentucky, Maine, Mississippi, and New Mexico. CONCLUSIONS: Results from this study demonstrate the sparsity and uneven distribution of diagnostic resources in the United States, which may contribute to the lengthy waitlists and travel distances-barriers to be overcome to be able to receive diagnosis in specific regions. More data are needed on autism diagnosis demand to better quantify resource needs across the United States.
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16. Nowell SW, Watson LR, Boyd B, Klinger LG. {{Efficacy Study of a Social Communication and Self-Regulation Intervention for School-Age Children With Autism Spectrum Disorder: A Randomized Controlled Trial}}. {Lang Speech Hear Serv Sch};2019 (Jul 12);50(3):416-433.
Purpose This study aimed to examine the initial efficacy of a parent-assisted blended intervention combining components of Structured TEACCHing and Social Thinking, designed to increase social communication and self-regulation concept knowledge in 1st and 2nd graders ( n = 17) diagnosed with autism spectrum disorder (ASD) and their parents. Method A randomized delayed treatment control group design with pre- and postintervention assessments of both parents and children was implemented within a community practice setting. Two follow-up assessments at 3 and 6 months postintervention were also completed. Results Overall, results indicate that the intervention is efficacious in teaching social communication and self-regulation concept knowledge to children with ASD and their parents. Both parents and children demonstrated an increase in social communication and self-regulation knowledge after participating in the Growing, Learning, and Living With Autism Group as compared to a delayed treatment control group. The effects of the intervention did not extend to parent-child interactions coded from video recordings. Child treatment effects were maintained at the 3- and 6-month follow-up assessments. Conclusions Preliminary efficacy of the Growing, Learning, and Living With Autism Group was established. Based on parent report at the conclusion of the intervention, this is a socially valid intervention for teaching social communication and self-regulation skills to school-age children with ASD. Supplemental Material https://doi.org/10.23641/asha.8637236.
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17. Parsons L, Cordier R, Munro N, Joosten A. {{A Play-Based, Peer-Mediated Pragmatic Language Intervention for School-Aged Children on the Autism Spectrum: Predicting Who Benefits Most}}. {J Autism Dev Disord};2019 (Jul 10)
This study explored characteristics of children with autism with large intervention effects following a peer-mediated pragmatic language intervention, to devise algorithms for predicting children most likely to benefit. Children attended a 10-week intervention with a typically-developing peer. Data from a pilot study and RCT formed the dataset for this study. The POM-2 measured intervention outcomes. Children completed the EVT-2, TACL-4, and Social Emotional Evaluation at baseline, and parents completed the CCC-2 and CCBRS. High CCC-2 Use of Context and CCBRS Separation Anxiety scores and comparatively lower EVT-2, CCC-2 Nonverbal Communication and Cohesion scores predicted children with large intervention effects. Results can be used by clinicians to predict which children within their clinics might benefit most from participating in this intervention.
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18. Robison MA, Mann TB, Ingvarsson ET. {{Life skills instruction for children with developmental disabilities}}. {J Appl Behav Anal};2019 (Jul 10)
The Preschool Life Skills program is an intervention package designed to teach functional skills to prevent problem behavior in typically developing children. The purpose of the current study was to evaluate the effects of the instructional package (renamed « Life Skills ») with children with developmental disabilities. The program involved teaching 12 life skills to nine participants across four instructional units. The units were instruction following, functional communication, tolerance of denial and delay, and friendship skills. Teachers provided instruction through a three-tiered instructional approach, starting with class-wide instruction followed by small group and one-to-one instruction as necessary. We extended previous research by using visual prompts during all three tiers and progressively increasing intertrial intervals during one-to-one instruction. Results indicated that the intervention led to skill acquisition with all nine participants. The skills maintained 4 weeks after instruction ended.
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19. Schuwerk T, Batz J, Trauble B, Sodian B, Paulus M. {{Do ostensive cues affect object processing in children with and without autism? A test of natural pedagogy theory}}. {Psychol Res};2019 (Jul 10)
Theories suggest that the perception of others’ actions and social cues leads to selective processing of object features. Most recently, natural pedagogy theory postulated that ostensive cues lead to a selective processing of an object’s features at the expense of processing of its location. This study examined this hypothesis in 10-year-old children with and without autism spectrum condition (ASC) to better understand social information processing in ASC and the relevance of observing others in human object processing in general. Participants saw an agent either ostensively pointing to an object or non-ostensively grasping an object. Thereafter, the cued or uncued object changed either its location or identity. We assessed not only behavioral responses, but also participants’ gaze behavior by means of eye tracking. In contrast to natural pedagogy theory, we found that in the non-ostensive grasping context, participants rather noticed an identity change than a location change. Moreover, location changes were more readily identified in the ostensive pointing context. Importantly, there was no difference between children with and without ASC. Our study shows that the perception of ostensively vs. non-ostensively framed actions leads to different processing of object features, indicating a close link between action perception, object processing, and social cues. Moreover, the lacking group difference in our study suggests that these basic perception-action processes are not impaired in autism.
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20. Segatto M, Tonini C, Pfrieger FW, Trezza V, Pallottini V. {{Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome}}. {Int J Mol Sci};2019 (Jul 5);20(13)
The mevalonate (MVA)/cholesterol pathway is crucial for central nervous system (CNS) development and function and consequently, any dysfunction of this fundamental metabolic pathway is likely to provoke pathologic changes in the brain. Mutations in genes directly involved in MVA/cholesterol metabolism cause a range of diseases, many of which present neurologic and psychiatric symptoms. This raises the question whether other diseases presenting similar symptoms are related albeit indirectly to the MVA/cholesterol pathway. Here, we summarized the current literature suggesting links between MVA/cholesterol dysregulation and specific diseases, namely autism spectrum disorder and Rett syndrome.
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21. Sheinerman K, Djukic A, Tsivinsky VG, Umansky SR. {{Brain-enriched microRNAs circulating in plasma as novel biomarkers for Rett syndrome}}. {PLoS One};2019;14(7):e0218623.
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2). Minimally invasive and accurate biomarkers of disease progression and treatment response could facilitate screening of therapeutic compounds in animal models, enrollment of better-defined participants into clinical trials, and treatment monitoring. In this study, we used a targeted approach based on analysis of brain-enriched microRNAs (miRNAs) circulating in plasma to identify miRNA biomarkers of RTT using Mecp2-mutant mice as a model system and human plasma samples. An « miRNA pair » approach, i.e. the ratio between two miRNAs, was used for data normalization. Specific miRNA pairs and their combinations (classifiers) analyzed in plasma differentiated wild-type from Mecp2 male and female mice with >90% accuracy. Individual miRNA pairs were more effective in distinguishing male (homozygous) animals than female (heterozygous) animals, suggesting that disease severity correlated with the levels of the miRNA biomarkers. In the human study, 30 RTT patients were compared with age-matched controls. The results of this study showed that miRNA classifiers were able to differentiate RTT patients from controls with 85-100% sensitivity. In addition, a comparison of various age groups demonstrated that the dynamics in levels of miRNAs appear to be associated with disease development (involvement of liver, muscle and lipid metabolism in the pathology). Importantly, certain miRNA biomarker pairs were common to both the animal models and human subjects, indicating the similarity between the underlying pathological processes. The data generated in this feasibility study suggest that circulating miRNAs have the potential to be developed as markers of RTT progression and treatment response. Larger clinical studies are needed to further evaluate the findings presented here.
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22. Smeets EE, Townend GS, Curfs LMG. {{Rett syndrome and developmental regression}}. {Neurosci Biobehav Rev};2019 (Jul 5);104:100-101.
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23. Sullivan MO, Gallagher L, Heron EA. {{Gaining Insights into Aggressive Behaviour in Autism Spectrum Disorder Using Latent Profile Analysis}}. {J Autism Dev Disord};2019 (Jul 10)
Aggressive behaviour is a significant issue for individuals with autism spectrum disorder (ASD), yet our understanding is limited compared to aggression in typically developing populations. This study examined behavioural, adaptive and cognitive data provided by the Simons Simplex Collection (N = 2184) to identify behavioural subgroups in children and adolescents with ASD using latent profile analysis. Results showed five subgroups that differed with regards to behavioural severity, IQ and adaptive behaviour. In two profiles with higher aggression, individuals had greater comorbid anxiety symptoms and attentional deficits and also differed in adaptive behaviour and IQ. These results identify potentially important avenues for research in aggressive behaviour in ASD.
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24. Tammimies K, Li D, Rabkina I, Stamouli S, Becker M, Nicolaou V, Berggren S, Coco C, Falkmer T, Jonsson U, Choque-Olsson N, Bolte S. {{Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder}}. {Sci Rep};2019 (Jul 8);9(1):9810.
Challenges in social communication and interaction are core features of autism spectrum disorder (ASD) for which social skills group training (SSGT) is a commonly used intervention. SSGT has shown modest and heterogeneous effects. One of the major genetic risk factors in ASD is rare copy number variation (CNV). However, limited information exists whether CNV profiles could be used to aid intervention decisions. Here, we analyzed the rare genic CNV carrier status for 207 children, of which 105 received SSGT and 102 standard care as part of a randomized clinical trial for SSGT. We found that being a carrier of rare genic CNV did not have an impact on the SSGT outcome measured by the parent-report Social Responsiveness Scale (SRS). However, when stratifying by pathogenicity and size of the CNVs, we identified that carriers of clinically significant and large genic CNVs (>500 kb) showed inferior SRS outcomes at post-intervention (P = 0.047 and P = 0.036, respectively) and follow-up (P = 0.008 and P = 0.072, respectively) when adjusting for standard care effects. Our study provides preliminary evidence that carriers of clinically significant and large genic CNVs might not benefit as much from SSGT as non-carriers. Our results indicate that genetic information might help guide the modifications of interventions in ASD.
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25. Wilder DA, Ertel H, Hodges AC, Thomas R, Luong N. {{The use of auditory feedback and edible reinforcement to decrease toe walking among children with autism}}. {J Appl Behav Anal};2019 (Jul 10)
We replicated and extended previous research on the use of auditory feedback to decrease toe walking exhibited by 3 children with autism. After pretreatment screening analyses suggested that toe walking occurred independent of social consequences, we attached squeakers to the heels of each participants’ shoes. The squeakers provided auditory feedback when participants walked appropriately (i.e., with a heel-to-toe gait). For all participants, the auditory feedback itself produced increases in appropriate walking. For 1 participant, this feedback was sufficient to reduce toe walking to clinically acceptable levels; however, for 2 other participants, delivery of edible items paired with the auditory feedback was necessary. Intervention effects maintained when the schedule for edible delivery was thinned for all participants. In addition, for 2 participants, effects maintained when the intervention was implemented in a different setting and with a different person with no edibles or a thin schedule of edibles.
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26. Yang R, Walder-Christensen KK, Kim N, Wu D, Lorenzo DN, Badea A, Jiang YH, Yin HH, Wetsel WC, Bennett V. {{ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity}}. {Proc Natl Acad Sci U S A};2019 (Jul 8)
Giant ankyrin-B (ankB) is a neurospecific alternatively spliced variant of ANK2, a high-confidence autism spectrum disorder (ASD) gene. We report that a mouse model for human ASD mutation of giant ankB exhibits increased axonal branching in cultured neurons with ectopic CNS axon connectivity, as well as with a transient increase in excitatory synapses during postnatal development. We elucidate a mechanism normally limiting axon branching, whereby giant ankB localizes to periodic axonal plasma membrane domains through L1 cell-adhesion molecule protein, where it couples microtubules to the plasma membrane and prevents microtubule entry into nascent axon branches. Giant ankB mutation or deficiency results in a dominantly inherited impairment in selected communicative and social behaviors combined with superior executive function. Thus, gain of axon branching due to giant ankB-deficiency/mutation is a candidate cellular mechanism to explain aberrant structural connectivity and penetrant behavioral consequences in mice as well as humans bearing ASD-related ANK2 mutations.
