Pubmed du 15/09/20

mardi 15 septembre 2020

1. Aguilar-Lacasaña S, Vilor-Tejedor N, Jansen PR, López-Vicente M, Bustamante M, Burgaleta M, Sunyer J, Alemany S. Polygenic risk for ADHD and ASD and their relation with cognitive measures in school children. Psychol Med ;2020 (Sep 14):1-9.

BACKGROUND : Attention deficit and hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are child-onset neurodevelopmental disorders frequently accompanied by cognitive difficulties. In the current study, we aim to examine the genetic overlap between ADHD and ASD and cognitive measures of working memory (WM) and attention performance among schoolchildren using a polygenic risk approach. METHODS : A total of 1667 children from a population-based cohort aged 7-11 years with data available on genetics and cognition were included in the analyses. Polygenic risk scores (PRS) were calculated for ADHD and ASD using results from the largest GWAS to date (N = 55 374 and N = 46 351, respectively). The cognitive outcomes included verbal and numerical WM and the standard error of hit reaction time (HRTSE) as a measure of attention performance. These outcomes were repeatedly assessed over 1-year period using computerized version of the Attention Network Test and n-back task. Associations were estimated using linear mixed-effects models. RESULTS : Higher polygenic risk for ADHD was associated with lower WM performance at baseline time but not over time. These findings remained significant after adjusting by multiple testing and excluding individuals with an ADHD diagnosis but were limited to boys. PRS for ASD was only nominally associated with an increased improvement on verbal WM over time, although this association did not survive multiple testing correction. No associations were observed for HRTSE. CONCLUSIONS : Common genetic variants related to ADHD may contribute to worse WM performance among schoolchildren from the general population but not to the subsequent cognitive-developmental trajectory assessed over 1-year period.

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2. Bai D, Marrus N, Yip BHK, Reichenberg A, Constantino JN, Sandin S. Inherited Risk for Autism Through Maternal and Paternal Lineage. Biol Psychiatry ;2020 (Sep 15) ;88(6):480-487.

BACKGROUND : Autism spectrum disorder (ASD) is highly familial, with a positively skewed male-to-female ratio that is purported to arise from the so-called female protective effect. A serious implication of a female protective effect is that familial ASD liability would be expected to aggregate asymptomatically in sisters of affected probands, who would incur elevated rates of ASD among their offspring. Currently, there exist no data on second-generation recurrence rates among families affected by ASD. METHODS : We analyzed data from the Swedish National Patient Register and the Multi-Generation Register for a cohort of children born between 2003 and 2012. ASD was ascertained in both the child and parental generations. RESULTS : Among 847,732 children, 13,103 (1.55%) children in the cohort were diagnosed with ASD. Among their maternal/paternal aunts and uncles, 1744 (0.24%) and 1374 (0.18%) were diagnosed with ASD, respectively. Offspring of mothers with a sibling(s) diagnosed with ASD had higher rates of ASD than the general population (relative risk, 3.05 ; 95% confidence interval, 2.52-3.64), but not more than would be predicted for second-degree relatives within a generation, and only slightly more than was observed for fathers with siblings with ASD (relative risk, 2.08 ; 95% confidence interval, 1.53-2.67). Models adjusting for temporal trends and for psychiatric history in the parental generation did not alter the results. CONCLUSIONS : These findings establish a robust general estimate of ASD transmission risk for siblings of individuals affected by ASD, the first ever reported. Our findings do not suggest female protective factors as the principal mechanism underlying the male sex bias in ASD.

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3. Baltazar M, Geoffray MM, Chatham C, Bouvard M, Martinez Teruel A, Monnet D, Scheid I, Murzi E, Couffin-Cadiergues S, Umbricht D, Murtagh L, Delorme R, Ly Le-Moal M, Leboyer M, Amestoy A. "Reading the Mind in the Eyes" in Autistic Adults is Modulated by Valence and Difficulty : An InFoR Study. Autism Res ;2020 (Sep 15)

Autism spectrum disorders (ASD) are heterogeneous and complex neurodevelopmental conditions that urgently need reliable and sensitive measures to inform diagnosis properly. The Reading the Mind in the Eyes Task (or Eyes Test from now on) is widely used for this purpose. A recent study showed that subcategories of items of the children version of the Eyes Test could be especially discriminative to distinguish ASD and control children. Here, we analyzed the performance on the Eyes Test of 30 high functioning (IQ > 70) adults with ASD and 29 controls from the InFoR cohort multicentric study, using a Generalized Linear Mixed Model. We found that valence and difficulty modulate the performance on the Eyes Test, with easy and positive items being the most discriminative to distinguish ASD and controls. In particular, we suggest this result might be actionable to discriminate ASD patients from controls in subgroups where their overall scores show less difference with controls. We propose for future research the computation of two additional indexes when using the Eyes Test : the first focusing on the easy and positive items (applying a threshold of 70% of correct responses for these items, above which people are at very low risk of having ASD) and the second focusing on the performance gain from difficult to easy items (with a progression of less than 15% showing high risk of having ASD). Our findings open the possibility for a major change in how the Eyes Test is used to inform diagnosis in ASD. LAY SUMMARY : The Eyes Test is used worldwide to inform autism spectrum disorders (ASD) diagnosis. We show here that ASD and neurotypical adults show the most difference in performance on subgroups of items : ASD adults do not improve as expected when comparing easy and difficult items, and they do not show an improvement for items displaying a positive feeling. We advise clinicians to focus on these comparisons to increase the property of the test to distinguish people with ASD from neurotypical adults.

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4. Carpenter KLH, Hahemi J, Campbell K, Lippmann SJ, Baker JP, Egger HL, Espinosa S, Vermeer S, Sapiro G, Dawson G. Digital Behavioral Phenotyping Detects Atypical Pattern of Facial Expression in Toddlers with Autism. Autism Res ;2020 (Sep 14)

Commonly used screening tools for autism spectrum disorder (ASD) generally rely on subjective caregiver questionnaires. While behavioral observation is more objective, it is also expensive, time-consuming, and requires significant expertise to perform. As such, there remains a critical need to develop feasible, scalable, and reliable tools that can characterize ASD risk behaviors. This study assessed the utility of a tablet-based behavioral assessment for eliciting and detecting one type of risk behavior, namely, patterns of facial expression, in 104 toddlers (ASD N = 22) and evaluated whether such patterns differentiated toddlers with and without ASD. The assessment consisted of the child sitting on his/her caregiver’s lap and watching brief movies shown on a smart tablet while the embedded camera recorded the child’s facial expressions. Computer vision analysis (CVA) automatically detected and tracked facial landmarks, which were used to estimate head position and facial expressions (Positive, Neutral, All Other). Using CVA, specific points throughout the movies were identified that reliably differentiate between children with and without ASD based on their patterns of facial movement and expressions (area under the curves for individual movies ranging from 0.62 to 0.73). During these instances, children with ASD more frequently displayed Neutral expressions compared to children without ASD, who had more All Other expressions. The frequency of All Other expressions was driven by non-ASD children more often displaying raised eyebrows and an open mouth, characteristic of engagement/interest. Preliminary results suggest computational coding of facial movements and expressions via a tablet-based assessment can detect differences in affective expression, one of the early, core features of ASD. LAY SUMMARY : This study tested the use of a tablet in the behavioral assessment of young children with autism. Children watched a series of developmentally appropriate movies and their facial expressions were recorded using the camera embedded in the tablet. Results suggest that computational assessments of facial expressions may be useful in early detection of symptoms of autism.

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5. Carvalho MM, Mazza J. Williams Syndrome Associated With Autism Spectrum Disorder : A Case Report and Review of the Literature. Cureus ;2020 (Aug 10) ;12(8):e9641.

We present a case report of patient H., a four-year-old male who was brought to the neurogenetics clinic of a university hospital. He was diagnosed with Williams syndrome (WS), which was confirmed by microarray ; the patient was also diagnosed with autism spectrum disorder (ASD) by the pediatric neurology department. It is known that due to WS’s phenotypical pattern, a co-diagnosis of both ASD and WS is apparently unlikely and often ignored. This case report discusses how this matter is addressed in the literature to understand the overlap of these two diseases, treating this case as a study model.

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6. Cascia J, Barr JJ. Associations among parent and teacher ratings of systemizing, vocabulary and executive function in children with autism spectrum disorder. Res Dev Disabil ;2020 (Sep 15) ;106:103779.

Individuals with Autism Spectrum Disorder (ASD) show a heightened drive toward systemizing, which is the capability to analyze, or the drive to construct, a rule-based system. In addition, executive function deficits as well as diminished language capacity and vocabulary have been consistently demonstrated in individuals with ASD. The primary purpose of this study was to create a model to understand how these constructs interact in children with ASD. Forty-six children diagnosed with ASD along with their parents and teachers participated. All children completed standardized vocabulary testing. For each child, one parent and one teacher completed executive function and systemizing scales. For parents and teachers, systemizing was significantly associated with vocabulary. For parents, systematizing was significantly associated with all executive function subscales, however, for teachers, systemizing was only significantly associated with half of the executive function subscales. The mediation model indicated that the relationship between vocabulary and systemizing was fully mediated by executive function for parents but the model was not significant for teachers. This model demonstrates that systemizing, vocabulary and executive function should not be studied in isolation when attempting to understand the behaviors of children with ASD and can help us to better plan educational and therapeutic interventions.

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7. Chen T, Yang W, Wang Q, Zhang Y, Ma Z. Effects of social stories intervention for children and adolescents with autism spectrum disorders : A protocol for a systematic review and meta-analysis of randomized controlled trials. Medicine (Baltimore) ;2020 (Sep 11) ;99(37):e22018.

BACKGROUND : Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, which lacks specific medical treatment. Intervention is the key point of rehabilitation training for ASD. Social stories (SS) are a commonly used intervention practice in individuals with ASD. However, there is mixed evidence on the effectiveness of SS. Thus, the objective of this systematic review and meta-analysis is to assess studies of the effects of SS for children and adolescents with ASD. METHODS : To identify relevant studies, we will search PubMed, EMBASE, Cochrane Library, Web of Science, Google Scholar and trials registers (the World Health Organization International Clinical Trial Registration Platform, ClinicalTrials.gov, and Chinese Clinical Trial Register) from inception to May 2020. In addition, we will also perform handsearching of grey literature, such as conference proceedings and academic degree dissertations. Only the randomized control trials will be accepted, no matter what the languages they were reported. We will first focus on the effectiveness of the intervention on the behavior of the targets. Then we will do further analysis of the study design, including the length and intensity of intervention, the characteristics of participants and interveners, the methods of assessment, the place, the medium, and the economic feasibility. Two independent reviewers will carry out literature identification, data collection, and study quality assessment. Discrepancies will be resolved by a third reviewer. The Cochrane Risk of Bias Tool will be used to evaluate the risk of bias of the randomized controlled trials. Data analysis will be calculated using the STATA 13.0 software. RESULT : This study will offer new evidence whether the SS is an appropriate intervention of benefiting the children and adolescents with ASD, and to determine which factors affect the effectiveness of SS. CONCLUSION : The conclusion drawn from this systematic review will benefit the children and adolescents with ASD.

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8. Chetcuti L, Uljarević M, Varcin KJ, Boutrus M, Wan MW, Green J, Iacono T, Dissanayake C, Whitehouse AJO, Hudry K. Subgroups of Temperament Associated with Social-Emotional Difficulties in Infants with Early Signs of Autism. Autism Res ;2020 (Sep 14)

Links between temperament and social-emotional difficulties are well-established in normative child development but remain poorly characterized in autism. We sought to characterize distinct temperament subgroups and their associations with concurrent internalizing and externalizing symptoms in a sample of 103 infants (M(age) = 12.39 months, SD = 1.97 ; 68% male) showing early signs of autism. Latent profile analysis was used to identify subgroups of infants with distinct temperament trait configurations on the Infant Behavior Questionnaire-Revised. Derived subgroups were then compared in terms of internalizing and externalizing symptoms on the Infant-Toddler Social and Emotional Assessment. Three distinct temperament subgroups were identified : (a) inhibited/low positive (n = 22), characterized by low Smiling and Laughter, low High-Intensity Pleasure, low Vocal Reactivity, and low Approach ; (b) active/negative reactive (n = 23), characterized by high Activity Level, high Distress to Limitations, high Sadness, high Fear, and low Falling Reactivity ; and (c) well-regulated (n = 51), characterized by high Cuddliness, high Soothability, and high Low-Intensity Pleasure. There were no differences in infant sex ratio, mean age or developmental/cognitive ability. Inhibited/low-positive infants had significantly more behavioral autism signs than active/negative reactive and well-regulated infants, who did not differ. Inhibited/low-positive and active/negative reactive infants had higher internalizing symptoms, relative to well-regulated infants, and active/negative reactive infants also had higher externalizing symptoms. These findings align closely with those garnered in the context of normative child development, and point to child temperament as a putative target for internalizing and externalizing interventions. LAY SUMMARY : This study explored whether infants with early signs of autism could be grouped according to temperament characteristics (i.e., emotional, behavioral, and attentional traits). Three subgroups were identified that differed with respect to emotional and behavioral difficulties. Specifically, "inhibited/low-positive" infants had high emotional difficulties, "active/negative reactive" infants had high emotional and behavioral difficulties, while "well-regulated" infants had the lowest difficulties.

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9. Courcy I, des Rivières-Pigeon C. ’We’re responsible for the diagnosis and for finding help’. The help-seeking trajectories of families of children on the autism spectrum. Sociol Health Illn ;2020 (Sep 15)

This article focuses on parents’ process of seeking help for their child when a diagnosis of autism spectrum disorder is made or suspected. The study was conducted with 18 parents of children aged 4-10 years in Quebec (Canada). A trajectory-network approach was applied in order to carry out an in-depth analysis of family help-seeking trajectories based on the relationships mobilised (or neglected) over time and on life course events that may have precipitated (or hindered) help-seeking actions. Semi-directed interviews based on a name generator were conducted. A qualitative analysis of the content of family narratives was done and followed by the production of a schematic representation of each families’ help-seeking trajectory. The results identified four constitutive phases during which relationships within the family, within associations, or with health and social services or education professionals helped or hindered the help-seeking process. The results show the relevance of the proposed approach for analysing the help-seeking process and better supporting families of children on the autism spectrum.

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10. Fowler K, O’Connor C. ’I just rolled up my sleeves’ : Mothers’ perspectives on raising girls on the autism spectrum. Autism ;2020 (Sep 15):1362361320956876.

Autism in boys has been well researched but very little is known about the everyday experiences of autistic girls or their families. Mothers’ views and insights can be very helpful in increasing knowledge around the unique demands of raising a daughter with autism. This study conducted interviews with Irish mothers to examine their own experiences regarding (a) getting an autism diagnosis for their daughter, (b) their daughters’ personal characteristics and (c) the impact of caring for a daughter with autism. The study suggests that the route to an autism diagnosis for girls in Ireland is made more difficult by delays and missed diagnoses, and often followed by inadequate supports. Mothers described autistic girls as presenting with social challenges and mental health difficulties. Many mothers experienced judgement from other parents and family members, acute stress and mental health struggles. However, these challenges were offset by mothers’ resilience, pride in their daughters and support from other women. The findings of this study highlight the importance of specific support for autistic girls and their families.

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11. Gandhi TK, Tsourides K, Singhal N, Cardinaux A, Jamal W, Pantazis D, Kjelgaard M, Sinha P. Autonomic and Electrophysiological Evidence for Reduced Auditory Habituation in Autism. J Autism Dev Disord ;2020 (Sep 14)

It is estimated that nearly 90% of children on the autism spectrum exhibit sensory atypicalities. What aspects of sensory processing are affected in autism ? Although sensory processing can be studied along multiple dimensions, two of the most basic ones involve examining instantaneous sensory responses and how the responses change over time. These correspond to the dimensions of ’sensitivity’ and ’habituation’. Results thus far have indicated that autistic individuals do not differ systematically from controls in sensory acuity/sensitivity. However, data from studies of habituation have been equivocal. We have studied habituation in autism using two measures : galvanic skin response (GSR) and magneto-encephalography (MEG). We report data from two independent studies. The first study, was conducted with 13 autistic and 13 age-matched neurotypical young adults and used GSR to assess response to an extended metronomic sequence. The second study involved 24 participants (12 with an ASD diagnosis), different from those in study 1, spanning the pre-adolescent to young adult age range, and used MEG. Both studies reveal consistent patterns of reduced habituation in autistic participants. These results suggest that autism, through mechanisms that are yet to be elucidated, compromises a fundamental aspect of sensory processing, at least in the auditory domain. We discuss the implications for understanding sensory hypersensitivities, a hallmark phenotypic feature of autism, recently proposed theoretical accounts, and potential relevance for early detection of risk for autism.

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12. Hacohen-Kleiman G, Moaraf S, Kapitansky O, Gozes I. Sex-and Region-Dependent Expression of the Autism-Linked ADNP Correlates with Social- and Speech-Related Genes in the Canary Brain. J Mol Neurosci ;2020 (Sep 14)

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13. Hammerschlag AR, Byrne EM, Bartels M, Wray NR, Middeldorp CM. Refining Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder Genetic Loci by Integrating Summary Data From Genome-wide Association, Gene Expression, and DNA Methylation Studies. Biol Psychiatry ;2020 (Sep 15) ;88(6):470-479.

BACKGROUND : Recent genome-wide association studies (GWASs) identified the first genetic loci associated with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The next step is to use these results to increase our understanding of the biological mechanisms involved. Most of the identified variants likely influence gene regulation. The aim of the current study is to shed light on the mechanisms underlying the genetic signals and prioritize genes by integrating GWAS results with gene expression and DNA methylation (DNAm) levels. METHODS : We applied summary-data-based Mendelian randomization to integrate ADHD and ASD GWAS data with fetal brain expression and methylation quantitative trait loci, given the early onset of these disorders. We also analyzed expression and methylation quantitative trait loci datasets of adult brain and blood, as these provide increased statistical power. We subsequently used summary-data-based Mendelian randomization to investigate if the same variant influences both DNAm and gene expression levels. RESULTS : We identified multiple gene expression and DNAm levels in fetal brain at chromosomes 1 and 17 that were associated with ADHD and ASD, respectively, through pleiotropy at shared genetic variants. The analyses in brain and blood showed additional associated gene expression and DNAm levels at the same and additional loci, likely because of increased statistical power. Several of the associated genes have not been identified in ADHD and ASD GWASs before. CONCLUSIONS : Our findings identified the genetic variants associated with ADHD and ASD that likely act through gene regulation. This facilitates prioritization of candidate genes for functional follow-up studies.

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14. Hickey E, Sheldrick RC, Kuhn J, Broder-Fingert S. A commentary on interpreting the United States preventive services task force autism screening recommendation statement. Autism ;2020 (Sep 14):1362361320957463.

In 2016, the US Preventive Services Task Force concluded that there was "insufficient" ("I" statement) evidence to support universal primary care screening for autism spectrum disorder. The statement led to controversy among research and clinical communities. Although a number of papers have since been published arguing for the potential benefit of autism spectrum disorder screening, none adequately address the potential harms of autism spectrum disorder screening. This evidence gap may relate to confusion regarding how the US Preventive Services Task Force conceptualizes and evaluates potential harm. In this commentary, we explore how the US Preventive Services Task Force operationalizes harm and discuss how the potential for harm was described in the "I" statement on autism spectrum disorder screening. This information can serve as a guide for investigators working to study the benefits and harms of autism spectrum disorder screening in order to fill the research gaps cited by the US Preventive Services Task Force report. Finally, we recommend future research directions for exploring harms of autism spectrum disorder screening, filling cited research gaps, and ultimately ensuring that the benefits of autism spectrum disorder screening truly outweigh the harms for all children and their families.

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15. Jachyra P, Renwick R, Gladstone B, Anagnostou E, Gibson BE. Physical activity participation among adolescents with autism spectrum disorder. Autism ;2020 (Sep 14):1362361320949344.

Adolescents with autism spectrum disorder are less likely to be physically active compared to their age-related peers. Despite the lower levels of physical activity observed among adolescents with autism spectrum disorder, it is unknown why they are predominantly inactive. Much of the research so far has focused on understanding how biological aspects influence physical activity participation. But there is little research that has examined how social and cultural components influence their physical activity participation. There is also little research that has sought the perspectives and experiences of adolescents with autism spectrum disorder. In this study, 10 adolescent boys with autism spectrum disorder created a digital story, and also participated in two face-to-face interviews. The purpose of the study was to examine how individual, social, and cultural forces influenced physical activity participation. Analysis of the data highlight that bullying, challenges in community programs, and the prioritization of therapeutic interventions limited participation. On the contrary, participants were more likely to be active when physical activity generated meaning, purpose, a sense of identity, and affective pleasures. The findings add new knowledge suggesting that adolescents with autism spectrum disorder are not simply unmotivated. Rather, physical activity participation was shaped by wider social experiences, norms, values, and practices in which they were immersed. The findings suggest a need for directed efforts to create policies and practices which are individualized and reflective of the needs and abilities of adolescents with autism spectrum disorder to promote physical activity participation and potentially enhance physical health and wellbeing.

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16. Jouravlev O, Kell AJE, Mineroff Z, Haskins AJ, Ayyash D, Kanwisher N, Fedorenko E. Reduced Language Lateralization in Autism and the Broader Autism Phenotype as Assessed with Robust Individual-Subjects Analyses. Autism Res ;2020 (Sep 15)

One of the few replicated functional brain differences between individuals with autism spectrum disorders (ASD) and neurotypical (NT) controls is reduced language lateralization. However, most prior reports relied on comparisons of group-level activation maps or functional markers that had not been validated at the individual-subject level, and/or used tasks that do not isolate language processing from other cognitive processes, complicating interpretation. Furthermore, few prior studies have examined functional responses in other brain networks, as needed to determine the spatial selectivity of the effect. Using functional magnetic resonance imaging (fMRI), we compared language lateralization between 28 adult ASD participants and carefully pairwise-matched controls, with the language regions defined individually using a well-validated language "localizer" task. Across two language comprehension paradigms, ASD participants showed less lateralized responses due to stronger right hemisphere activity. Furthermore, this effect did not stem from a ubiquitous reduction in lateralization of function across the brain : ASD participants did not differ from controls in the lateralization of two other large-scale networks-the Theory of Mind network and the Multiple Demand network. Finally, in an exploratory study, we tested whether reduced language lateralization may also be present in NT individuals with high autism-like traits. Indeed, autistic trait load in a large set of NT participants (n = 189) was associated with less lateralized language responses. These results suggest that reduced language lateralization is robustly associated with autism and, to some extent, with autism-like traits in the general population, and this lateralization reduction appears to be restricted to the language system. LAY SUMMARY : How do brains of individuals with autism spectrum disorders (ASD) differ from those of neurotypical (NT) controls ? One of the most consistently reported differences is the reduction of lateralization during language processing in individuals with ASD. However, most prior studies have used methods that made this finding difficult to interpret, and perhaps even artifactual. Using robust individual-level markers of lateralization, we found that indeed, ASD individuals show reduced lateralization for language due to stronger right-hemisphere activity. We further show that this reduction is not due to a general reduction of lateralization of function across the brain. Finally, we show that greater autistic trait load is associated with less lateralized language responses in the NT population. These results suggest that reduced language lateralization is robustly associated with autism and, to some extent, with autism-like traits in the general population.

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17. Landa RJ, Reetzke R, Tahseen M, Hess CR. Early behavioral profiles elucidating vulnerability and resiliency to later ASD outcomes. Dev Psychopathol ;2020 (Sep 15):1-13.

Infant siblings of children with autism spectrum disorder (ASD) exhibit greater heterogeneity in behavioral presentation and outcomes relative to infants at low familial risk (LR), yet there is limited understanding of the diverse developmental profiles that characterize these infants. We applied a hierarchical agglomerative cluster analysis approach to parse developmental heterogeneity in 420 toddlers with heightened (HR) and low (LR) familial risk for ASD using measures of four dimensions of development : language, social, play, and restricted and repetitive behaviors (RRB). Results revealed a two-cluster solution. Comparisons of clusters revealed significantly lower language, social, and play performance, and higher levels of restricted and repetitive behaviors in Cluster 1 relative to Cluster 2. In Cluster 1, 25% of children were later diagnosed with ASD compared to 8% in Cluster 2. Comparisons within Cluster 1 between subgroups of toddlers having ASD+ versus ASD- 36-month outcomes revealed significantly lower functioning in the ASD+ subgroup across cognitive, motor, social, language, symbolic, and speech dimensions. Findings suggest profiles of early development associated with resiliency and vulnerability to later ASD diagnosis, with multidimensional developmental lags signaling vulnerability to ASD diagnosis.

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18. Larson C, Gangopadhyay I, Prescott K, Kaushanskaya M, Ellis Weismer S. Planning in Children with Autism Spectrum Disorder : The Role of Verbal Mediation. J Autism Dev Disord ;2020 (Sep 15)

This study examined verbal mediation during planning in school-age children with autism spectrum disorder (ASD) relative to age- and nonverbal IQ- matched typically developing peers using a dual-task paradigm. Analyses showed no group differences in performance. However, in the condition intended to disrupt verbal mediation, language skills were associated with planning performance for the TD group, but not the ASD group. Upon examining ASD subgroups with versus without comorbid structural language impairment, children with ASD and normal language appeared to rely on verbal mediation to a greater degree than children with ASD and language impairment, but to a lesser degree than TD peers. Thus, the role of verbal mediation in planning for children with ASD differs depending on language status.

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19. Macdonald D, Luk G, Quintin EM. Correction to : Early Word Reading of Preschoolers with ASD, Both With and Without Hyperlexia, Compared to Typically Developing Preschoolers. J Autism Dev Disord ;2020 (Sep 15)

The original version of this article unfortunately contained a mistake in Table 6. The column headings was repeated in the first column along with the text. The corrected Table 6 is given below.

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20. McDonald J, Milne S, Masi A, Zieba J, Eapen V. Where are they now ? An autism follow-up study. J Paediatr Child Health ;2020 (Sep 15)

AIM : To explore the stability of diagnosis and the relationship between behavioural, adaptive and developmental skills in early to middle childhood in children with autism spectrum disorder (ASD). METHODS : Fifty-four children recruited to the study were diagnosed with ASD before 42 months. Outcomes at follow-up after a mean interval of 64 months were measured using the Autism Diagnostic Observation Schedule, Vineland-II adaptive scale and Wechsler Intelligence Scale for Children and parental survey data. Scores before school were compared with follow-up data through descriptive, correlational and multiple regression analyses. RESULTS : ASD was confirmed in all children at follow-up (mean age 10 years). Fifty-eight percent of children were enrolled in a supported educational class or school and 42% were taking a psychotropic medication. Adaptive function improved significantly in 19% of children. Developmental and adaptive behavioural scores before school correlated with cognitive, behaviour and adaptive assessments at follow-up. CONCLUSION : At follow-up, the diagnosis was confirmed in all children. The children showed gains in their adaptive skills but and many required ongoing educational and behavioural support. Early developmental and adaptive assessments reliably predicted later educational support needs, cognitive and adaptive function and are a useful component of a diagnostic assessment.

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21. Oh M, Kim SA, Yoo HJ. Higher Lactate Level and Lactate-to-Pyruvate Ratio in Autism Spectrum Disorder. Exp Neurobiol ;2020 (Aug 31) ;29(4):314-322.

Mitochondrial dysfunction is considered one of the pathophysiological mechanisms of autism spectrum disorder (ASD). However, previous studies of biomarkers associated with mitochondrial dysfunction in ASD have revealed inconsistent results. The objective of this study was to evaluate biochemical markers associated with mitochondrial dysfunction in subjects with ASD and their unaffected family members. Lactate and pyruvate levels, as well as the lactate-to-pyruvate ratio, were examined in the peripheral blood of probands with ASD (Affected Group, AG) and their unaffected family members (biological parents and unaffected siblings, Unaffected Group, UG). Lactate ≥22 mg/dl, pyruvate ≥1.4 mg/dl, and lactate-topyruvate ratio >25 were defined as abnormal. The clinical variables were compared between subjects with higher (>25) and lower (≤25) lactate-topyruvate ratios within the AG. The AG (n=59) had a significantly higher lactate and lactate-to-pyruvate ratio than the UG (n=136). The frequency of subjects with abnormally high lactate levels and lactate-to-pyruvate ratio was significantly higher in the AG (lactate 31.0% vs. 9.5%, ratio 25.9% vs. 7.3%, p<0.01). The relationship between lactate level and the repetitive behavior domain of the Autism Diagnostic Interview-Revised was statistically significant. These results suggest that biochemical markers related to mitochondrial dysfunction, especially higher lactate levels and lactateto- pyruvate ratio, might be associated with the pathophysiology of ASD. Further larger studies using unrelated individuals are needed to control for the possible effects of age and sex on chemical biomarker levels.

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22. Ring M, Guillery-Girard B, Quinette P, Gaigg SB, Bowler DM. Short-Term Memory Span and Cross-Modality Integration in Younger and Older Adults With and Without Autism Spectrum Disorder. Autism Res ;2020 (Sep 14)

This study tested whether adults with autism spectrum disorder (ASD) show the same pattern of difficulties and absence of age-related differences in short-term memory (STM) as those that have been reported in episodic long-term memory (LTM). Fifty-three adults with ASD (age range : 25-65 years) were compared to 52 age-, biological sex-, and intelligence-matched typically developing (TD ; age range : 21-67 years) adults on three STM span tasks, which tested STM performance for letters (Verbal), grid locations (Visuospatial), or letters in grid locations (Multimodal). A subsample of 34 TD and 33 ASD participants ranging in age from 25 to 64 years completed a fourth Multimodal Integration task. We also administered the Color Trails Test as a measure of executive function. ASD participants’ accuracy was lower than that of the TD participants on the three span tasks (Cohen’s d : 0.26-0.50). The Integration task difference was marginally significant (p = .07) but had a moderate effect size (Cohen’s d = 0.50). Regression analyses confirmed reduced STM performance only for older TD participants. Analyses also indicated that executive processes played a greater role in the ASD group’s performance. The demonstration of similar difficulties and age-related patterning of STM in ASD to those documented for LTM and the greater recruitment of executive processes by older ASD participants on the Integration task suggest a compensatory role of frontal processes both as a means of achieving undiminished task performance and as a possible protection against older age cognitive decline in ASD. Longitudinal research is needed to confirm this. LAY SUMMARY : Little is known about short-term memory (STM) in younger and older adults with autism spectrum disorder (ASD). This study tested different kinds of STM and showed that ASD adults remembered shorter sequences of letters, crosses, or letters in grid cells less well than matched participants with typical development. However, older ASD individuals performed similarly to younger ASD individuals, nor showing the reduction in performance usually seen with older age. The data suggest that ASD individuals use different underlying mechanisms when performing the tasks and that this might help protect their memory as they grow older.

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23. Roberts TPL, Bloy L, Ku M, Blaskey L, Jackel CR, Edgar JC, Berman JI. A Multimodal Study of the Contributions of Conduction Velocity to the Auditory Evoked Neuromagnetic Response : Anomalies in Autism Spectrum Disorder. Autism Res ;2020 (Sep 14)

This multimodal imaging study used magnetoencephalography, diffusion magnetic resonance imaging (MRI), and gamma-aminobutyric acid (GABA) magnetic resonance spectroscopy (MRS) to identify and contrast the multiple physiological mechanisms associated with auditory processing efficiency in typically developing (TD) children and children with autism spectrum disorder (ASD). Efficient transmission of auditory input between the ear and auditory cortex is necessary for rapid encoding of auditory sensory information. It was hypothesized that the M50 auditory evoked response latency would be modulated by white matter microstructure (indexed by diffusion MRI) and by tonic inhibition (indexed by GABA MRS). Participants were 77 children diagnosed with ASD and 40 TD controls aged 7-17 years. A model of M50 latency with auditory radiation fractional anisotropy and age as independent variables was able to predict 52% of M50 latency variance in TD children, but only 12% of variance in ASD. The ASD group exhibited altered patterns of M50 latency modulation characterized by both higher variance and deviation from the expected structure-function relationship established with the TD group. The TD M50 latency model was used to identify a subpopulation of ASD who are significant "outliers" to the TD model. The ASD outlier group exhibited unexpectedly long M50 latencies in conjunction with significantly lower GABA levels. These findings indicate the dependence of electrophysiologic sensory response latency on underlying microstructure (white matter) and neurochemistry (synaptic activity). This study demonstrates the use of biologically based measures to stratify ASD according to their brain-level "building blocks" as an alternative to their behavioral phenotype. LAY SUMMARY : Children with ASD often have a slower brain response when hearing sounds. This study used multiple brain imaging techniques to examine the structural and neurochemical factors which control the brain’s response time to auditory tones in children with ASD and TD children. The relationship between brain imaging measures and brain response time was also used to identify ASD subgroups.

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24. Rodriguez G, Drastal K, Hartley SL. Cross-lagged model of bullying victimization and mental health problems in children with autism in middle to older childhood. Autism ;2020 (Sep 12):1362361320947513.

Youth with autism spectrum disorders are disproportionately at risk for bullying victimization compared to typically developing children and adolescents. While internalizing and externalizing mental health problems have been linked to victimization experiences, few studies have examined the longitudinal effects bullying victimization experiences may have on youth mental health outcomes. The present study investigated longitudinal associations between bullying victimization and mental health problems in a sample of children with autism in middle childhood to early adolescence (aged 5 to 12 years). Findings from our study suggest that youth with autism who experienced bullying victimization (versus no victimization) were older in age, had more severe autism symptoms, and higher levels of internalizing and externalizing mental health problems at study onset. Though externalizing mental health problems at study onset (Time 1) did not relate to change in the likelihood of being bullied one year later (Time 2), experiences of bullying victimization did relate to an increase in parent reports of internalizing mental health problems. This study expanded on previous cross-sectional studies by including two waves of data in a relatively large sample of youth with autism and highlights important information that may be helpful in adapting approaches to intervention at the individual level. Moreover, our findings support the need for bullying programs that may need to focus particular attention to subgroups of youth with autism who may be most at-risk for bullying victimization such as those with more autism symptoms and those with past experiences of victimization (given the chronic nature of bullying).

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25. Safer-Lichtenstein J, Hamilton J, McIntyre LL. School-Based Autism Rates by State : An Analysis of Demographics, Political Leanings, and Differential Identification. J Autism Dev Disord ;2020 (Sep 14)

We reviewed federal special education data to determine school-identified prevalence of Autism Spectrum Disorder (ASD) and other disability categories by U.S. state. We also examined whether state-level policies, demographic factors, and rates of other eligibility categories are predictive of these state ASD rates. Results indicate that overall, 1 of 81 school-aged children are served under an ASD special education eligibility. State-level demographic factors, such as socioeconomic status and political leanings were highly predictive of rates of ASD. States with higher rates of ASD had lower rates of intellectual and learning disabilities, but higher rates of Other Health Impairment (OHI).

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26. Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ. Double Genetic Hit : Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder. J Dev Behav Pediatr ;2020 (Sep 15)

BACKGROUND : Fragile X syndrome (FXS) is an X-linked genetic disorder caused by the absence of the fragile X mental retardation 1 protein. FXS is the most common inherited cause of intellectual disability and autism spectrum disorder (ASD). Approximately 60% of subjects with FXS present with ASD, and 2% to 4% of individuals diagnosed with ASD have FXS. Most individuals with ASD have a genetic disorder, so detailed molecular testing of individuals with ASD is medically indicated. Deletions of the protein patched homolog 1 antisense (PTCHD1-AS) gene have been associated with ASD. Here, we describe, for the first time, a boy with FXS because of a point mutation in the FMR1 gene and autism, and the latter comorbidity of ASD is likely because of a deletion of PTCHD1-AS. Thus, the observed phenotype of FXS with severe autism symptoms is likely caused by a double hit of genetic mutations. CASE PRESENTATION : The case is a 5-year-old boy with phenotypic characteristics of FXS. The psychological assessment based on parent report and the Autism Diagnostic Observation Schedule, Second Edition identified severe difficulties on every item of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnostic criteria for ASD, with language impairment, anxiety, attention, and affective problems. Exome sequencing identified a de novo pathogenic variant in the FMR1 gene c.229delT (p.Cys77Alafs*5) and, coupled with comparative genomic hybridization, also diagnosed a maternally inherited partial deletion of the PTCHD1-AS gene. CONCLUSION : Fragile X syndrome presents with clinical features in virtually all affected men, predominantly intellectual disability. However, there are other comorbidities present in a subset of patients, including ASD. We propose that the variable expressivity in FXS could be partially explained by the additive effect of a second genetic mutation that increases the individual susceptibility to the unique phenotypic findings, as is the case of the patient described here.

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27. Schmitt LM, Wang J, Pedapati EV, Thurman AJ, Abbeduto L, Erickson CA, Sweeney JA. A neurophysiological model of speech production deficits in fragile X syndrome. Brain Commun ;2020 ;2(1)

Fragile X syndrome is the most common inherited intellectual disability and monogenic cause of autism spectrum disorder. Expressive language deficits, especially in speech production, are nearly ubiquitous among individuals with fragile X, but understanding of the neurological bases for these deficits remains limited. Speech production depends on feedforward control and the synchronization of neural oscillations between speech-related areas of frontal cortex and auditory areas of temporal cortex. Interaction in this circuitry allows the corollary discharge of intended speech generated from an efference copy of speech commands to be compared against actual speech sounds, which is critical for making adaptive adjustments to optimize future speech. We aimed to determine whether alterations in coherence between frontal and temporal cortices prior to speech production are present in individuals with fragile X and whether they relate to expressive language dysfunction. Twenty-one participants with full-mutation fragile X syndrome (aged 7-55 years, eight females) and 20 healthy controls (matched on age and sex) completed a talk/listen paradigm during high-density EEG recordings. During the talk task, participants repeated pronounced short vocalizations of ’Ah’ every 1-2 s for a total of 180 s. During the listen task, participants passively listened to their recordings from the talk task. We compared pre-speech event-related potential activity, N1 suppression to speech sounds, single trial gamma power and fronto-temporal coherence between groups during these tasks and examined their relation to performance during a naturalistic language task. Prior to speech production, fragile X participants showed reduced pre-speech negativity, reduced fronto-temporal connectivity and greater frontal gamma power compared to controls. N1 suppression during self-generated speech did not differ between groups. Reduced pre-speech activity and increased frontal gamma power prior to speech production were related to less intelligible speech as well as broader social communication deficits in fragile X syndrome. Our findings indicate that coordinated pre-speech activity between frontal and temporal cortices is disrupted in individuals with fragile X in a clinically relevant way and represents a mechanism contributing to prominent speech production problems in the disorder.

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28. Sparapani N, Solari E, Towers L, McIntyre N, Henry A, Zajic M. Secondary Analysis of Reading-Based Activities Utilizing a Scripted Language Approach : Evaluating Interactions Between Students With Autism and Their Interventionists. J Speech Lang Hear Res ;2020 (Sep 15) ;63(9):3130-3154.

Students with autism spectrum disorder (ASD) often exhibit challenges with reading development. Evidence-based interventions and specialized approaches to reading instruction are currently being implemented across educational contexts for learners with ASD (Machalicek et al., 2008), yet there is limited understanding of how core ASD features may impact effective delivery of instruction and student participation. We begin to address this need by evaluating the reciprocity between instructional talk and student participation within a reading intervention utilizing a scripted language approach that was being piloted on students with ASD. Method This study used archival video-recorded observations from the beginning of a reading intervention to examine the interactions between 20 students (18 boys, two girls) with ASD (7-11 years old, M = 9.10, SD = 1.74) and their interventionists (n = 7). Lag sequential analysis was used to examine the frequency of student initiations and responses following the interventionists’ use of responsive, open-ended, closed-ended, and directive language. Results Findings describe the types of and illustrate the variability in interactions between students and their interventionists, as well as highlight language categories that are linked to student participation. Conclusions These data provide a snapshot of the nature and quality of interactions between students with ASD and their interventionists. Findings suggest that delivery of instruction, including the language that interventionists use, may be an important area of focus when evaluating the effectiveness of reading-based practices across educational settings for learners with ASD, even within the confines of highly structured interventions.

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29. Su PL, Rogers SJ, Estes A, Yoder P. The role of early social motivation in explaining variability in functional language in toddlers with autism spectrum disorder. Autism ;2020 (Sep 12):1362361320953260.

About one-third of children with autism spectrum disorder never develop the language that they need in different day-to-day situations. Identifying potential factors that can predict later language development is crucial to understanding why some children with autism spectrum disorder successfully develop language while others do not. This study sought to investigate one of the understudied predictors of language development, social motivation, and to test theories for why this association may occur. Testing the theories requires that we measure children’s ability to deliberately and directly communicate with others (i.e. intentional communication) and children’s language understanding between the measures of social motivation and later expressive language. We tested 87 children with autism spectrum disorder, aged 14-31 months, at four times over 24 months. We found that children with relatively stronger social motivation had relatively better language use 2 years later. This positive link was partly due to a child’s ability to produce intentional communication and to understand language. Although we did not measure parents’ talking to their children, a theory that inspired this study suggests that children who use frequent intentional communication probably motivate others to talk with them frequently, which facilitates children’s language understanding which leads to the development of expressive language. This theory, if confirmed to be true, can provide guidance for parents who want to help their children learn to talk. Parents could look for intentional communication from their children and respond by talking to their children. Effective intervention on both parent and child targets will likely enhance treatment efficacy. Future work is needed to test these ideas.

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30. Tubío-Fungueiriño M, Cruz S, Sampaio A, Carracedo A, Fernández-Prieto M. Social Camouflaging in Females with Autism Spectrum Disorder : A Systematic Review. J Autism Dev Disord ;2020 (Sep 14)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with increasing prevalence, and a male-to-female ratio of 4:1. Research has been suggesting that discrepancy in prevalence may be due to the fact that females camouflage their symptoms. In this study, we aimed to systematically review evidence on the camouflage effect in females with ASD. Following the PRISMA guidelines, we reviewed empirical research published from January 2009 to September 2019 on PubMed, Web of Science, PsychInfo and Scopus databases. Thirteen empirical articles were included in this review. Overall, evidence supports that camouflaging seems to be an adaptive mechanism for females with ASD, despite the negative implications of these behaviours in their daily life.

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31. Utami KH, Skotte NH, Colaço AR, Yusof N, Sim B, Yeo XY, Bae HG, Garcia-Miralles M, Radulescu CI, Chen Q, Chaldaiopoulou G, Liany H, Nama S, Peteri UA, Sampath P, Castrén ML, Jung S, Mann M, Pouladi MA. Integrative Analysis Identifies Key Molecular Signatures Underlying Neurodevelopmental Deficits in Fragile X Syndrome. Biol Psychiatry ;2020 (Sep 15) ;88(6):500-511.

BACKGROUND : Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by epigenetic silencing of FMR1 and loss of FMRP expression. Efforts to understand the molecular underpinnings of the disease have been largely performed in rodent or nonisogenic settings. A detailed examination of the impact of FMRP loss on cellular processes and neuronal properties in the context of isogenic human neurons remains lacking. METHODS : Using CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 to introduce indels in exon 3 of FMR1, we generated an isogenic human pluripotent stem cell model of FXS that shows complete loss of FMRP expression. We generated neuronal cultures and performed genome-wide transcriptome and proteome profiling followed by functional validation of key dysregulated processes. We further analyzed neurodevelopmental and neuronal properties, including neurite length and neuronal activity, using multielectrode arrays and patch clamp electrophysiology. RESULTS : We showed that the transcriptome and proteome profiles of isogenic FMRP-deficient neurons demonstrate perturbations in synaptic transmission, neuron differentiation, cell proliferation and ion transmembrane transporter activity pathways, and autism spectrum disorder-associated gene sets. We uncovered key deficits in FMRP-deficient cells demonstrating abnormal neural rosette formation and neural progenitor cell proliferation. We further showed that FMRP-deficient neurons exhibit a number of additional phenotypic abnormalities, including neurite outgrowth and branching deficits and impaired electrophysiological network activity. These FMRP-deficient related impairments have also been validated in additional FXS patient-derived human-induced pluripotent stem cell neural cells. CONCLUSIONS : Using isogenic human pluripotent stem cells as a model to investigate the pathophysiology of FXS in human neurons, we reveal key neural abnormalities arising from the loss of FMRP.

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32. Wang JY. Using an Isogenic Human Pluripotent Stem Cell Model for Better Understanding Neurodevelopmental Defects in Fragile X Syndrome. Biol Psychiatry ;2020 (Sep 15) ;88(6):e25-e27.

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33. Xie Y, Zhang X, Liu F, Qin W, Fu J, Xue K, Yu C. Brain mRNA Expression Associated with Cortical Volume Alterations in Autism Spectrum Disorder. Cell Rep ;2020 (Sep 15) ;32(11):108137.

Numerous studies report abnormal cerebral cortex volume (CCV) in autism spectrum disorder (ASD) ; however, genes related to CCV abnormalities in ASD remain largely unknown. Here, we identify genes associated with CCV alterations in ASD by performing spatial correlations between the gene expression of 6 donated brains and neuroimaging data from 1,404 ASD patients and 1,499 controls. Based on spatial correlations between gene expression and CCV differences from two independent meta-analyses and between gene expression and individual CCV distributions of 404 patients and 496 controls, we identify 417 genes associated with both CCV differences and individual CCV distributions. These genes are enriched for genetic association signals and genes downregulated in the ASD post-mortem brain. The expression patterns of these genes are correlated with brain activation patterns of language-related neural processes frequently impaired in ASD. These findings highlight a model whereby genetic risk impacts gene expression (downregulated), which leads to CCV alterations in ASD.

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34. Young DR, Suter B, Levine JT, Glaze DG, Layne CS. Characteristic behaviors associated with gait of individuals with Rett syndrome. Disabil Rehabil ;2020 (Sep 15):1-8.

BACKGROUND : Individuals with Rett syndrome (RTT) exhibit impaired motor performance and gait performance, leading to decreased quality of life. Currently, there is no robust observational instrument to identify gait characteristics in RTT. Current scales are limited as individuals with intellectual disorders may be unable to understand instructions. Our primary purpose was to utilize video analysis to characterize the behaviors associated with walking in individuals with RTT and explore the relationship between behaviors during overground and during treadmill walking. METHODS : Fourteen independently ambulatory females with RTT were video-taped and observed during overground and treadmill walking. Their gait was codified into an observational checklist to reveal prominent features associated with gait in this population. RESULTS : Participants exhibited similar rates of freezing, veering, and hand stereotypies between overground and treadmill walking ; however, freeze duration was shortened during treadmill walking. Toe walking was prominently exhibited during overground, but not treadmill walking. During both walking modes, participants required extensive external motivation to maintain their walking patterns. CONCLUSIONS : Results identify several gait characteristics observable during overground and treadmill walking. In general, participants behaved similarly during overground and treadmill walking. We conclude that both overground and treadmill walking are appropriate tools to evaluate gait in this population. Implications for rehabilitation Locomotor rehabilitation may increase the quantity of walking performed by the patients, which can alleviate negative effects of the sedentary lifestyle commonly observed in patients with Rett syndrome (RTT). Video analysis of natural walking can be an effective tool to characterize gait in patients with RTT which does not require particular instructions which may not be fully understood. Both overground and treadmill walking are appropriate means of evaluating gait in individuals with RTT.

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35. Zuckerman KE, Chavez AE, Wilson L, Unger K, Reuland C, Ramsey K, King M, Scholz J, Fombonne E. Improving autism and developmental screening and referral in US primary care practices serving Latinos. Autism ;2020 (Sep 14):1362361320957461.

Latino children experience delays in access to diagnosis and treatment of autism spectrum disorder. Primary care-based screening of all children for autism spectrum disorder and referring them for services may reduce racial/ethnic differences and improve care. REAL-START, a yearlong screening intervention, was effective in increasing screening for autism spectrum disorder and general developmental delays, increasing therapy referrals, and shortening time for developmental assessment in primary care clinics with Latino patients.

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