Pubmed du 16/09/20

mercredi 16 septembre 2020

1. 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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2. Burke SL, Cobb J, Agarwal R, Maddux M, Cooke MS. How Robust is the Evidence for a Role of Oxidative Stress in Autism Spectrum Disorders and Intellectual Disabilities ?. J Autism Dev Disord ;2020 (Sep 14)

Growing interest in the pathogenesis of autism spectrum disorders (ASDs) and other intellectual and developmental disabilities (IDD) has led to emerging evidence implicating a role for oxidative stress. However, understanding the strength of this association is made challenging by the use of a variety of purported biomarkers of oxidative stress, many of which have either uncertain specificity or flawed methods of analysis. This review aims to address this issue, which is widespread in the ASD and IDD literature, by providing readers with information concerning the strengths and limitations of the choice and analysis of biomarkers of oxidative stress. We highlight that biomarkers and assays should be specific, sensitive, reproducible, precise, robust, and chosen with careful consideration. Future studies should be sufficiently powered and address sample collection, processing, and storage which are, additionally, poorly considered, sources of bad practice, and potential errors. Only with these issues considered, will the data lead to conclusions as to the precise role of oxidative stress in ASDs and IDD.

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3. Chan DV, Klinger MR, Adkisson KA, Klinger LG. Examining Environmental Predictors of Community Participation for Adults with Autism Spectrum Disorder Using Geographic Information Systems (GIS). J Autism Dev Disord ;2020 (Sep 16)

A geographic information system (GIS) approach systematically assessed whether population density and distribution of community resources contributed to caregiver reported community participation outcomes for 124 adults with autism spectrum disorder (ASD). Regression analyses examined whether GIS measures predicted community participation in areas of social activities and use of services, while also accounting for adult age, conversation ability, and daily living skills (DLS). Results indicated that in addition to person factors of greater DLS and better conversation ability, access to specific community features, such as bus stops, contributed to improved participation. Unexpectedly, population density where one lived made minimal contribution to participation outcomes, except in getting together with friends outside of organized activities.

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4. Constantin L, Poulsen RE, Scholz LA, Favre-Bulle IA, Taylor MA, Sun B, Goodhill GJ, Vanwalleghem GC, Scott EK. Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome. BMC Biol ;2020 (Sep 16) ;18(1):125.

BACKGROUND : Loss or disrupted expression of the FMR1 gene causes fragile X syndrome (FXS), the most common monogenetic form of autism in humans. Although disruptions in sensory processing are core traits of FXS and autism, the neural underpinnings of these phenotypes are poorly understood. Using calcium imaging to record from the entire brain at cellular resolution, we investigated neuronal responses to visual and auditory stimuli in larval zebrafish, using fmr1 mutants to model FXS. The purpose of this study was to model the alterations of sensory networks, brain-wide and at cellular resolution, that underlie the sensory aspects of FXS and autism. RESULTS : Combining functional analyses with the neurons’ anatomical positions, we found that fmr1(-/-) animals have normal responses to visual motion. However, there were several alterations in the auditory processing of fmr1(-/-) animals. Auditory responses were more plentiful in hindbrain structures and in the thalamus. The thalamus, torus semicircularis, and tegmentum had clusters of neurons that responded more strongly to auditory stimuli in fmr1(-/-) animals. Functional connectivity networks showed more inter-regional connectivity at lower sound intensities (a - 3 to - 6 dB shift) in fmr1(-/-) larvae compared to wild type. Finally, the decoding capacities of specific components of the ascending auditory pathway were altered : the octavolateralis nucleus within the hindbrain had significantly stronger decoding of auditory amplitude while the telencephalon had weaker decoding in fmr1(-/-) mutants. CONCLUSIONS : We demonstrated that fmr1(-/-) larvae are hypersensitive to sound, with a 3-6 dB shift in sensitivity, and identified four sub-cortical brain regions with more plentiful responses and/or greater response strengths to auditory stimuli. We also constructed an experimentally supported model of how auditory information may be processed brain-wide in fmr1(-/-) larvae. Our model suggests that the early ascending auditory pathway transmits more auditory information, with less filtering and modulation, in this model of FXS.

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5. 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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6. 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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7. Georgiou GP. Identification of Native Vowels in Normal and Whispered Speech by Individuals with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Sep 14)

The present study aims to investigate the identification of native vowel categories by adult individuals with Autism Spectrum Disorder (ASD) and estimate their reaction times in both normal and whisper registers ; their responses were compared with those of typically developing individuals. The results demonstrated that there was no deficit for individuals with ASD in normal speech, but their responses in the whispered speech were impaired. Also, individuals with ASD responded quicker than controls in normal speech but slower in the whispered speech ; still, their responses were quicker than the responses of the controls in the whispered mode. The findings can have implications for the understanding of auditory sensitivities and auditory processing time in individuals with ASD as well as for clinical practice.

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8. Harris HK, Sideridis GD, Barbaresi WJ, Harstad E. Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder. Pediatrics ;2020 (Sep 16)

BACKGROUND AND OBJECTIVES : Genetic testing is recommended for individuals with autism spectrum disorder (ASD). Pathogenic yield varies by clinician and/or patient characteristics. Our objectives were to determine the pathogenic yield of genetic testing, the variability in rate of pathogenic results based on subject characteristics, and the percentage of pathogenic findings resulting in further medical recommendations in toddlers with a Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnosis of ASD. METHODS : We conducted a retrospective chart review of 500 toddlers, 18 to 36 months, diagnosed with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition ASD (mean age : 25.8 months, 79% male). Subject demographics, medical and neuropsychological characteristics, and genetic test results were abstracted. Genetic results were divided into negative or normal, variants of unknown significance, and pathogenic. Subject characteristics were compared across results. Manual chart review determined if further recommendations were made after pathogenic results. RESULTS : Over half of subjects (59.8%, n = 299) completed genetic testing, and of those, 36 (12.0%) had pathogenic findings. There were no significant differences in Bayley Scales of Infant Development cognitive (P = .112), language (P = .898), or motor scores (P = .488) among children with negative or normal findings versus a variant of unknown significance versus pathogenic findings. Medical recommendations in response to the genetic finding were made for 72.2% of those with pathogenic results. CONCLUSIONS : Our findings reinforce the importance of genetic testing for toddlers diagnosed with ASD given the 12% yield and lack of phenotypic differences between subjects with and without pathogenic findings. The majority of pathogenic results lead to further medical recommendations.

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9. Hus Y, Segal O. Functional Communication Profiles of Children and Youth with Autism : A Roadmap to Therapeutic and Educational Interventions. Folia Phoniatr Logop ;2020 (Sep 16):1-17.

BACKGROUND : Autism spectrum disorder (ASD) entails varied developmental pathways along the entire lifespan, demanding early and ongoing diverse and responsive interventions to children’s needs. This study examined in situ education and development attained by children and youth with ASD in a school with a therapeutic and educational curriculum. OBJECTIVES : (1) Construct individual communication profiles in educational and developmental aspects. (2) Examine for associations between variables. (3) Demonstrate the clinical and educational utility of including cognitive-linguistic integrative variables. (4) Showcase how the profiles guide interventions tailored to students’ individual needs. METHODS : Functional communication profiles (FCPs) of 21 students, aged 5.0-16.8 years, mostly from bilingual middle-high socioeconomic status families, were constructed with input from their educational and therapeutic staff. Students’ performance was examined with an array of instruments and tasks, including person and clock drawings, false belief, and bouba-kiki metaphor screens. Qualitative and quantitative analyses were performed to uncover associations, weaknesses, and strengths. RESULTS : The profiles revealed associations between cognitive, linguistic, social, and educational abilities, indicating that some abilities from different domains tend to co-occur. CONCLUSIONS : Including cognitive linguistic integrative variables was a novelty that revealed additional aspects of the children’s abilities. Staff feedback confirmed the utility of FCPs in providing "a roadmap" to needed individual and common curriculum adjustments.

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10. 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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11. 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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12. Linke AC, Mash LE, Fong CH, Kinnear MK, Kohli JS, Wilkinson M, Tung R, Keehn RJJ, Carper RA, Fishman I, Müller RA. Dynamic time warping outperforms Pearson correlation in detecting atypical functional connectivity in autism spectrum disorders. Neuroimage ;2020 (Sep 16):117383.

Resting state fMRI (rsfMRI) is frequently used to study brain function, including in clinical populations. Similarity of blood-oxygen-level-dependent (BOLD) fluctuations during rsfMRI between brain regions is thought to reflect intrinsic functional connectivity (FC), potentially due to history of coactivation. To quantify similarity, studies have almost exclusively relied on Pearson correlation, which assumes linearity and can therefore underestimate FC if the hemodynamic response function differs regionally or there is BOLD signal lag between timeseries. Here we show in three cohorts of children, adolescents and adults, with and without autism spectrum disorders (ASDs), that measuring the similarity of BOLD signal fluctuations using non-linear dynamic time warping (DTW) is more robust to global signal regression (GSR), has higher test-retest reliability and is more sensitive to task-related changes in FC. Additionally, when comparing FC between individuals with ASDs and typical controls, more group differences are detected using DTW. DTW estimates are also more related to ASD symptom severity and executive function, while Pearson correlation estimates of FC are more strongly associated with respiration during rsfMRI. Together these findings suggest that non-linear methods such as DTW improve estimation of resting state FC, particularly when studying clinical populations whose hemodynamics or neurovascular coupling may be altered compared to typical controls.

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13. 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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14. 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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15. Meng J, Li Z, Shen L. Altered neuronal habituation to hearing others’ pain in adults with autistic traits. Sci Rep ;2020 (Sep 14) ;10(1):15019.

This study tested the hypothesis that autistic traits influence the neuronal habituation that underlies the processing of others’ pain. Based on their autism-spectrum quotient (AQ), two groups of participants were classified according to their autistic traits : High-AQ and Low-AQ groups. Their event-related potentials in response to trains of three identical audio recordings, exhibiting either painful or neutral feelings of others, were compared during three experimental tasks. (1) In a Pain Judgment Task, participants were instructed to focus on pain-related cues in the presented audio recordings. (2) In a Gender Judgment Task, participants were instructed to focus on non-pain-related cues in the presented audio recordings. (3) In a Passive Listening Task, participants were instructed to passively listen. In the High-AQ group, an altered empathic pattern of habituation, indexed by frontal-central P2 responses of the second repeated painful audio recordings, was found during the Passive Listening Task. Nevertheless, both High-AQ and Low-AQ groups exhibited similar patterns of habituation to hearing others’ voices, both neutral and painful, in the Pain Judgment and Gender Judgment Tasks. These results suggest altered empathic neuronal habituation in the passive processing of others’ vocal pain by individuals with autistic traits.

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16. Miller M, Austin S, Iosif AM, de la Paz L, Chuang A, Hatch B, Ozonoff S. Shared and distinct developmental pathways to ASD and ADHD phenotypes among infants at familial risk. Dev Psychopathol ;2020 (Sep 16):1-12.

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are believed to share partially overlapping causal mechanisms suggesting that early risk markers may also overlap. Using latent profile analysis (LPA) in a sample of infants enriched for ASD and ADHD, we first examined the number of distinct groups of 3-year-old children, based on ADHD and ASD symptomatology. To investigate early predictors of ASD and ADHD symptom profiles, we next examined differences in trajectories of infant behaviors among the LPA classes spanning general development, negative affect, attention, activity level, impulsivity, and social behavior. Participants included 166 infants at familial risk for ASD (n = 89), ADHD (n = 38), or low-risk for both (n = 39) evaluated at 12, 18, 24, and 36 months of age. A three-class solution was selected reflecting a Typically Developing (TD) class (low symptoms ; n = 108), an ADHD class (high ADHD/low ASD symptoms ; n = 39), and an ASD class (high ASD/ADHD symptoms ; n = 19). Trajectories of infant behaviors were generally suggestive of a gradient pattern of differences, with the greatest impairment within the ASD class followed by the ADHD class. These findings indicate a mixture of overlapping and distinct early markers of preschool ASD- and ADHD-like profiles that can be difficult to disentangle early in life.

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17. Neuhaus E, Bernier RA, Webb SJ. Social Motivation Across Multiple Measures : Caregiver-Report of Children with Autism Spectrum Disorder. Autism Res ;2020 (Sep 14)

Social motivation is a foundational construct with regard to the etiology, neurobiology, and phenotype of autism spectrum disorder (ASD). Multiple theories suggest that early emerging alterations to social motivation underlie a developmental cascade of social and communication deficits across the lifespan. Despite this significance, methods to measure social motivation vary widely, with little data to date as to how different measures might compare. In this study, we explore three existing caregiver-report measures that have been proposed to quantify social motivation among school-age children with ASD (n = 18 ; all male) and without ASD (n = 36 ; 50% female), with the broad goal of characterizing social motivation across measures and specific aims of investigating (a) diagnostic and sex differences in social motivation, (b) correspondence between measures, and (c) relationships between social motivation and broader social outcomes. Across all three measures, individuals with ASD had lower social motivation by caregiver-report. However, they did display individual differences in the degree of social motivation reported. There were no differences in social motivation between males and females without ASD on any of the three measures. For the full sample, measures of social motivation correlated with one another as anticipated, and stronger social motivation was associated with stronger social skills and fewer social difficulties. Our data suggest that social motivation among children with ASD may be best conceptualized as an individual difference that is diminished on average relative to peers but which varies among children and adolescents with ASD, rather than as an absolute absence or uniform deficit. LAY SUMMARY : Several theories suggest that children with autism spectrum disorder (ASD) experience less social motivation than their peers without ASD, contributing to difficulties in social skills. Based on multiple caregiver-report questionnaires, social motivation was reduced on average for school-age children with ASD but also varied among children with ASD. Stronger social motivation was related to stronger social skills and fewer social problems. Future work should include more girls with ASD, consider social motivation across age groups, and include first-hand perspectives from people with ASD.

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18. Richa S, Khoury R, J JR, Chammay R, Kazour F, Bou Khalil R, Kheir W, Choueifaty D, Kouba-Hreich E, Gerbaka B, Adib S. Estimating the prevalence of autism spectrum disorder in Lebanon. Encephale ;2020 (Sep 11)

This cross-sectional survey examines the prevalence rate of Autism spectrum disorder (ASD) in 818 children (16-48 months) across all Lebanese regions. Screening was done using the revised form of the Modified-Checklist for Autism in Toddlers. Based on the total score of items failed, children were classified into 3 categories of ASD risk (low, moderate and high). Phone calls follow-up interviews and clinical assessments for diagnosis ascertainment were conducted. Given the caregivers’ reluctance to participate, the prevalence rate was estimated between 49 and 513 per 10,000 with a male predominance. Our prevalence estimation, even under restrictive assumptions, is higher than elsewhere in the Arab region. Anti- stigma interventions adapted to the socio-cultural context are needed prior to future research in the field.

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19. Root JR, Cox SK, Gilley D, Wade T. Using a Virtual-Representational-Abstract Integrated Framework to Teach Multiplicative Problem Solving to Middle School Students with Developmental Disabilities. J Autism Dev Disord ;2020 (Sep 16)

Effective instructional strategies to improve mathematical problem solving skills are critically important to student success in both school-based and real-world mathematics tasks. This study reports effects of a Virtual-Representational-Abstract Integrated framework on the mathematical problem solving skills of three middle school students with developmental disabilities (autism spectrum disorder and intellectual disability). All participants improved in their problem solving accuracy when solving multiplicative comparison word problems using realistic double and triple multipliers. Additionally, all participants maintained their mathematical problem solving accuracy after visual supports (graphic organizer) were removed. Detailed findings and implications for future research and practitioners are discussed.

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20. Russell I, Pearson B, Masic U. A Longitudinal Study of Features Associated with Autism Spectrum in Clinic Referred, Gender Diverse Adolescents Accessing Puberty Suppression Treatment. J Autism Dev Disord ;2020 (Sep 16)

Literature has documented inflated rates of features associated with autism spectrum (AS) in clinic referred, gender diverse young people. This study examined scores on the Social Responsiveness Scale, Second Edition (SRS-2) over time in a group of clinic referred, gender diverse adolescents accessing gonadotropin-releasing hormone analogues (GnRHa) to supress puberty. Primary caregivers of 95 adolescents presenting to the Gender Identity Development Service (GIDS) completed the SRS-2 prior to receiving endocrine input (mean age : 13.6 ± SEM : 0.11) and after approximately one year of accessing GnRHa (mean age : 14.6 ± SEM : 0.13). No significant differences in SRS-2 scores over time and between birth assigned sex were found. No interactions between time and birth assigned sex were established for SRS-2 subscales or total scores.

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21. 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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