1. Almeida TS, Lamb ME, Weisblatt EJ. {{Effects of Delay, Question Type, and Socioemotional Support on Episodic Memory Retrieval by Children with Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
Twenty-seven autistic children and 32 typically developing (TD) peers were questioned about an experienced event after a two-week delay and again after a two-month delay, using the Revised National Institute of Child Health and Human Development (NICHD) Investigative Interview Protocol. Recall prompts elicited more detailed and more accurate responses from children than recognition prompts. Autistic children recalled fewer correct narrative details than TD peers when questioned using open invitations, cued invitations, and directive questions. Nonetheless, they were as accurate as TD peers when responding to all types of prompts. The informativeness and accuracy of children’s reports remained unchanged over time. Social support was beneficial when children were interviewed for the first time but not after a longer delay.
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2. Broder-Fingert S, Qin S, Goupil J, Rosenberg J, Augustyn M, Blum N, Bennett A, Weitzman C, Guevara JP, Fenick A, Silverstein M, Feinberg E. {{A mixed-methods process evaluation of Family Navigation implementation for autism spectrum disorder}}. {Autism : the international journal of research and practice}. 2018: 1362361318808460.
There is growing interest in Family Navigation as an approach to improving access to care for children with autism spectrum disorder, yet little data exist on the implementation of Family Navigation. The aim of this study was to identify potential failures in implementing Family Navigation for children with autism spectrum disorder, using a failure modes and effects analysis. This mixed-methods study was set within a randomized controlled trial testing the effectiveness of Family Navigation in reducing the time from screening to diagnosis and treatment for autism spectrum disorder across three states. Using standard failure modes and effects analysis methodology, experts in Family Navigation for autism spectrum disorder (n = 9) rated potential failures in implementation on a 10-point scale in three categories: likelihood of the failure occurring, likelihood of not detecting the failure, and severity of failure. Ratings were then used to create a risk priority number for each failure. The failure modes and effects analysis detected five areas for potential « high priority » failures in implementation: (1) setting up community-based services, (2) initial family meeting, (3) training, (4) fidelity monitoring, and (5) attending testing appointments. Reasons for failure included families not receptive, scheduling, and insufficient training time. The process with the highest risk profile was « setting up community-based services. » Failure in « attending testing appointment » was rated as the most severe potential failure. A number of potential failures in Family Navigation implementation-along with strategies for mitigation-were identified. These data can guide those working to implement Family Navigation for children with autism spectrum disorder.
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3. Brown HK, Potvin LA, Lunsky Y, Vigod SN. {{Maternal Intellectual or Developmental Disability and Newborn Discharge to Protective Services}}. {Pediatrics}. 2018.
BACKGROUND: Approximately half of women with intellectual and developmental disabilities (IDDs) lose custody of their children at some point in their child’s development, but their rates of and risk factors for newborn discharge to child protective services from the birth hospitalization are relatively unknown. METHODS: We conducted a population-based study of newborns of 3845 women with IDDs and 379 834 women without IDDs in Ontario, Canada (2002-2012). We used modified Poisson regression to estimate adjusted relative risks (aRRs) and 95% confidence intervals (CIs) for discharge to child protective services directly from the birth hospitalization (1) comparing newborns of women with and without IDDs and (2) among newborns of women with IDDs according to sociodemographic, health, service, and perinatal characteristics. RESULTS: Approximately 5.7% of newborns of women with IDDs, compared with 0.2% of newborns of women without IDDs, were discharged to child protective services (aRR 8.10; 95% CI 6.51-10.09). Among newborns of women with IDDs, risk factors were maternal psychotic disorder (aRR 2.58; 95% CI 1.90-3.50), social assistance receipt (aRR 2.55; 95% CI 1.87-3.47), failure to receive an ultrasound by 20 weeks’ gestation (aRR 1.76; 95% CI 1.32-2.34), and receipt of <4 prenatal visits by 36 weeks' gestation (aRR 1.71; 95% CI 1.05-2.78). CONCLUSIONS: Although women with IDDs are at risk for custody loss immediately postdelivery, certain subgroups are at higher risk than others. Women with vulnerabilities related to comorbid psychotic disorders, poverty, and inadequate prenatal care may benefit from tailored, behavior-based parenting interventions before and during pregnancy to prevent maternal-newborn separations. Lien vers le texte intégral (Open Access ou abonnement)
4. Chang HK, Hsu JW, Wu JC, Huang KL, Chang HC, Bai YM, Chen TJ, Chen MH. {{Traumatic Brain Injury in Early Childhood and Risk of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: A Nationwide Longitudinal Study}}. {The Journal of clinical psychiatry}. 2018; 79(6).
OBJECTIVE: Early childhood (< 3 years of age) is a critical period for neurodevelopment. This study investigated the correlation between early childhood traumatic brain injury (TBI) and subsequent risk of attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and developmental delay (DD) by analyzing a national-scale cohort. METHODS: Data from the National Health Insurance Research Database, which comprises health care information from > 99% of the Taiwanese population, were analyzed. Children with TBI in their early childhood were enrolled from 1998-2008, and the incidence of subsequent ADHD, ASD, or DD (according to ICD-9 criteria) was assessed and compared with controls without TBI. Patients’ age, number of TBI events, and TBI severity were investigated for the risk of ADHD, ASD, or DD. RESULTS: A total of 7,801 and 31,204 children were enrolled in the TBI and control cohorts, respectively. The TBI cohort exhibited a higher incidence of subsequent ADHD, ASD, or DD than the controls (all P < .001). Diagnoses of ADHD, ASD, or DD in the TBI cohort were made at a younger age compared with the controls. Cox regression demonstrated the highest hazard ratios (HRs) of ADHD, ASD, or DD with repeated TBI events, severe TBI, and TBI events before 1 year of age, with the exception that the HR of ASD did not significantly increase after repeated TBI (P = .335). In addition, cumulative HRs (> 10 years) of ADHD, ASD, or DD were increased after TBI (all P < .001). CONCLUSIONS: Data from this study suggest that the incidence of ADHD, ASD, and DD significantly increased after TBI events in early childhood (< 3 years of age). The risk factors include severe TBI, repeated TBI events, and TBI at a younger age. The long-term follow-up demonstrated an increased cumulative risk of ADHD, ASD, and DD after TBI. Lien vers le texte intégral (Open Access ou abonnement)
5. Conner CM, White SW, Beck KB, Golt J, Smith IC, Mazefsky CA. {{Improving emotion regulation ability in autism: The Emotional Awareness and Skills Enhancement (EASE) program}}. {Autism : the international journal of research and practice}. 2018: 1362361318810709.
Emotion regulation impairments are common among individuals with autism spectrum disorder and are believed to often underlie commonly seen problems with aggression, depression, and anxiety. The Emotional Awareness and Skills Enhancement program was developed to reduce emotion regulation impairment and thereby improve behavioral disturbance, via mindfulness. Emotional Awareness and Skills Enhancement consists of a 16-week individual therapy treatment targeting emotion regulation impairments among individuals with autism spectrum disorder. We describe the conceptual framework and development of the program and present data on feasibility and preliminary efficacy from a pilot trial. The Emotional Awareness and Skills Enhancement manual was developed using a participatory action framework, based on emotion regulation research specific to autism spectrum disorder and input from individuals with autism spectrum disorder, therapists, and parents of children with autism spectrum disorder. Emotional Awareness and Skills Enhancement was piloted in a two-site open trial with 20 participants with autism spectrum disorder (12-17 years old, confirmed autism spectrum disorder diagnosis, IQ > 80).Outcome data support program feasibility and acceptability to participants, as well as significant improvement in emotion regulation impairments and related concerns.Findings offer preliminary support for both the feasibility and clinical effectiveness of the Emotional Awareness and Skills Enhancement program.
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6. Franz L, Adewumi K, Chambers N, Viljoen M, Baumgartner JN, de Vries PJ. {{Providing early detection and early intervention for autism spectrum disorder in South Africa: stakeholder perspectives from the Western Cape province}}. {Journal of child and adolescent mental health}. 2018: 1-17.
We set out to examine key stakeholder perspectives on early detection and intervention for autism spectrum disorder (ASD) in South Africa. Early detection and intervention improves child and family outcomes and lessens long-term costs. We focused on stakeholders in the Western Cape province, one of the better-resourced in terms of healthcare. Eight senior management level stakeholders, two each from government’s Health, Education, and Social Development, and the non-profit sector were identified using purposive sampling. In-depth interviews focused on key implementation- related themes. The National Integrated Early Childhood Development Policy was the most relevant to early detection and intervention. This policy, however, is not ASD specific. This lack of specificity is in keeping with an emerging theme: ASD was only seen within the context of other developmental disabilities, particularly by Health and Social Development. Specific ASD early detection and intervention may not currently align with Health and Social Development departmental goals. These departments are primarily responsible for identifying and providing services and financial support to young children with ASD. Increased ASD knowledge and local South African statistics on prevalence, burden and associated costs may alter this approach. At this time, ASD early intervention may be more closely aligned with Education department goals.
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7. Gandaglia A, Brivio E, Carli S, Palmieri M, Bedogni F, Stefanelli G, Bergo A, Leva B, Cattaneo C, Pizzamiglio L, Cicerone M, Bianchi V, Kilstrup-Nielsen C, D’Annessa I, Di Marino D, D’Adamo P, Antonucci F, Frasca A, Landsberger N. {{A Novel Mecp2(Y120D) Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome}}. {Molecular neurobiology}. 2018.
MeCP2 is a fundamental protein associated with several neurological disorders, including Rett syndrome. It is considered a multifunctional factor with a prominent role in regulating chromatin structure; however, a full comprehension of the consequences of its deficiency is still lacking. Here, we characterize a novel mouse model of Mecp2 bearing the human mutation Y120D, which is localized in the methyl-binding domain. As most models of Mecp2, the Mecp2(Y120D) mouse develops a severe Rett-like phenotype. This mutation alters the interaction of the protein with chromatin, but surprisingly, it also impairs its association with corepressors independently on the involved interacting domains. These features, which become overt mainly in the mature brain, cause a more accessible and transcriptionally active chromatin structure; conversely, in the Mecp2-null brain, we find a less accessible and transcriptionally inactive chromatin. By demonstrating that different MECP2 mutations can produce concordant neurological phenotypes but discordant molecular features, we highlight the importance of considering personalized approaches for the treatment of Rett syndrome.
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8. Gao F, Qi L, Yang Z, Yang T, Zhang Y, Xu H, Zhao H. {{Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome}}. {Neural plasticity}. 2018; 2018: 8423420.
Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by silence of the fmr1 gene and the deficiency of Fragile X mental retardation protein (FMRP). Patients present neuronal alterations that lead to severe intellectual disability and altered sleep rhythms. However, the neural circuit mechanisms underlying FXS remain unclear. Previous studies have suggested that metabolic glutamate and gamma-aminobutyric acid (GABA) receptors/circuits are two counter-balanced factors involved in FXS pathophysiology. More and more studies demonstrated that attenuated GABAergic circuits in the absence of FMRP are critical for abnormal progression of FXS. Here, we reviewed the changes of GABA neural circuits that were attributed to intellectual-deficient FXS, from several aspects including deregulated GABA metabolism, decreased expressions of GABA receptor subunits, and impaired GABAergic neural circuits. Furthermore, the activities of GABA neural circuits are modulated by circadian rhythm of FMRP metabolism and reviewed the abnormal condition of FXS mice or patients.
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9. Harrop C, Jones D, Zheng S, Nowell SW, Boyd BA, Sasson N. {{Sex differences in social attention in autism spectrum disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2018; 11(9): 1264-75.
Although reduced social attention and increased nonsocial attention have been reported in individuals with autism spectrum disorder (ASD), the studies have relied on predominantly male samples and have been underpowered to examine sex differences. These processes may differ for females with ASD, who have been shown to be dissimilar to males in social motivation and nonsocial features, including circumscribed interests (CI). The goal of this study was to compare social and nonsocial visual attention between males and females with ASD on a validated eye-tracking paradigm. Eighty-five school-aged (6-10 years) males and females with and without ASD completed a paired preference task of face and object stimuli (half of which related to common CI). After covarying for chronological and mental age, the presence of concurrently presented CI images reduced prioritization and attention to faces for males more than females, replicating previous findings. ASD females maintained comparable attention patterns to typically developing females, suggesting that previous findings of reduced social attention and increased attention to CI-related objects in autism may be specific to males. These findings are also inconsistent with the « extreme male brain » theory of autism. The more normative orienting and attention to social stimuli for females with ASD may indicate distinct phenotypic characteristics relative to males and possibly serve as a protective effect. Autism Res 2018, 11: 1264-1275. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: As autism is more commonly diagnosed in males, less is known about females with autism. Two areas of interest include the interests held by individuals with autism and how socially motivated they are. We used eye tracking as a way to understand these two areas. Our data reveal that elementary school-aged females (6-10 years) with autism attended to faces comparatively to females without autism, suggesting that (1) they were more socially motivated than males with autism and (2) the images of common interests were less motivating to them.
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10. Li G, Rossbach K, Jiang W, Zhao L, Zhang K, Du Y. {{Reduction in grey matter volume and its correlation with clinical symptoms in Chinese boys with low functioning autism spectrum disorder}}. {Journal of intellectual disability research : JIDR}. 2018.
BACKGROUND: Previous studies have reported changes within grey matter (GM) volume in children with autism spectrum disorder (ASD); however, little is known about GM volume changes and the relation with symptom severity in Chinese boys with low functioning autism spectrum disorder (LFASD). METHOD: GM volume was analysed using SPM 8 and compared between 16 boys with LFASD as well as 16 typically developing (TD) boys (using REST 1.8). Additionally, the correlation between GM volume and clinical symptoms was analysed, using subscales within the Autism Behaviour Checklist (ABC). RESULTS: The comparison showed a reduced volume of GM in 11 clusters in the boys with LFASD (i.e., the left inferior frontal gyrus, orbital part; right superior temporal gyrus, superior frontal gyrus, dorsolateral; precuneus and postcentral; bilateral rectus and middle temporal gyrus) and 1 area with increased GM volume (right caudate) compared to the TD group. Additionally, the GM volume of the left inferior frontal gyrus, orbital part was negatively correlated with the Social subscale score of the ABC (r = -0.765, P = 0.002), and the GM volume of the left Rectus was negatively associated with the Language, Body concept and Self-care subscale scores and the total score on the ABC(r = -0.624, P = 0.023; r = -0.657, P = 0.011; r = -0.618, P = 0.025; r = -0.625, P = 0.022). Further, the GM volume of the right Caudate was negatively correlated with the Sensory subscale on the ABC (r = -0.593, P = 0.033). CONCLUSION: In conclusion, the current study’s findings display that the GM volume was widely reduced in Chinese boys with LFASD compared to TD boys and negatively correlated with the clinical symptoms, indicating a possible pathological mechanism of LFASD.
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11. Margolis AE, Pagliaccio D, Thomas L, Banker S, Marsh R. {{Salience network connectivity and social processing in children with nonverbal learning disability or autism spectrum disorder}}. {Neuropsychology}. 2018.
OBJECTIVE: Nonverbal learning disability (NVLD) is a putative neurodevelopmental disorder characterized by spatial processing deficits as well as social deficits similar to those characteristic of autism spectrum disorder (ASD). Nonetheless, NVLD may be a distinct disorder that is differentially associated with the functioning and connectivity of the salience (SN) and default mode (DMN) networks that support social processing. Thus, we sought to assess and compare connectivity across these networks in children with NVLD, ASD, and typically developing children. METHOD: Resting-state fMRI data were examined in 17 children with NVLD, 17 children with ASD selected from the Autism Brain Imaging Data Exchange (ABIDE), and 40 TD children (20 from ABIDE). Average DMN and SN functional connectivity and pairwise region-to-region connectivity were compared across groups. Associations with social impairment and IQ were assessed. RESULTS: Children with NVLD showed reduced connectivity between SN regions (anterior insula to anterior cingulate and to rostral prefrontal cortex [rPFC]), whereas children with ASD showed greater connectivity between SN regions (supramarginal gyrus to rPFC) relative to the other groups. Both clinical groups showed higher levels of parent-reported social problems, which related to altered SN connectivity in the NVLD group. No differences were detected in overall average connectivity within or between networks. CONCLUSIONS: The social deficits common across children with NVLD and ASD may derive from distinct alterations in connectivity within the SN. Such findings represent the first step toward identifying a neurobiological signature of NVLD. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
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12. Muller Spaniol M, Shalev L, Mevorach C. {{Reduced distractor interference in neurotypical adults with high expression of autistic traits irrespective of stimulus type}}. {Autism research : official journal of the International Society for Autism Research}. 2018; 11(10): 1345-55.
Attention atypicality is evident in autism spectrum disorder (ASD) and its broader phenotype with previous studies suggesting that in some cases participants can be more efficient at ignoring distracting irrelevant information. However, it is not clear to what extent this improved filtering capacity is driven by perceptual atypicality, such as local bias or atypical face processing, which is also sometimes reported in these populations. For instance, better ability to ignore the global aspect of a display could stem from a local perceptual bias rather than from improved distractor inhibition. To test whether distractor suppression per se, is associated with high expression of autistic traits, in the present study a large cohort of neurotypical participants (n = 218), in whom expression of autistic traits was assessed, performed two nonspatial attention selection tasks with different categories of stimuli (global/local and face/scene). Importantly, both tasks involved a conflict with one aspect of the stimuli designated as the target and the other designated as the distractor. Across the two experiments adults with high autistic traits were overall, better able to ignore distractors than adults with low autistic traits, irrespective of the type of perceptual processing involved. These results support the notion that autistic tendencies are associated with increased attention filtering (at least when target and distractor remain constant) which is not dependent on perceptual biases. Thus, future work in the broader autism phenotype should explicitly consider the effect played by attention mechanisms in this population. Autism Res 2018, 11: 1345-1355. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In the present study, we show that neurotypical adults with high autistic traits are better able to avoid distraction from conspicuous (but completely irrelevant) distractors when told in advance to do so. This ability is not affected by the type of visual input (for instance, whether the distractor is a face or whether small rather than large letters should be reported). This finding could be important in better understanding the way attention is utilized in Autism.
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13. Neil L, White H, Warren K, Pellicano E. {{Anxiety and Interpretation of Ambiguity in Autistic Children, Typical Children and Their Mothers}}. {Journal of autism and developmental disorders}. 2018.
Anxiety is highly prevalent in autistic children. Yet interpretation biases implicated in anxiety in non-autistic individuals have received little research attention in this group. Twenty-two autistic children and 25 typical children completed an ambiguous scenarios interview and questionnaire-based measures of anxiety. A subsample of mothers completed parent-report and adult relevant versions of the interview and anxiety questionnaires. Autistic children self-reported similar interpretations of ambiguous scenarios, and similar levels of anxiety, to their typical peers. In contrast, mothers of autistic children reported greater levels of anxiety, and more negative interpretations of ambiguous scenarios in both their children and themselves, relative to mothers of typical children. These data highlight the importance of including autistic children’s self-reports when measuring and treating anxiety.
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14. Nik Adib NA, Ibrahim MI, Ab Rahman A, Bakar RS, Yahaya NA, Hussin S, Nor Arifin W. {{Translation and Validation of the Malay Version of the Parents’ Satisfaction Scale (PSS-M) for Assessment of Caregivers’ Satisfaction with Health Care Services for Children with Autism Spectrum Disorder}}. {International journal of environmental research and public health}. 2018; 15(11).
BACKGROUND: A Malay version of Parent Satisfaction Scale (PSS-M) is needed to investigate the factors contributing to the Malay caregivers’ satisfaction with health care management for children with autism spectrum disorder (ASD). The aim of the study is to translate and validate the questionnaire to assess the caregivers’ satisfaction on health care services. METHODS: A cross-sectional study was conducted among 110 caregivers of children with ASD aged between 2 and 17 years old that received treatment at two tertiary care centres in Kelantan. Permission to use the original version of the PSS questionnaire was obtained. The original English version of the PSS was translated into a Malay version following the 10 steps proposed by an established guideline. Pre-testing of the PSS was carried out with 30 caregivers before confirmatory factor analysis (CFA) was established using 110 caregivers. They were asked to assess their understanding of the questionnaire. The one-dimensional questionnaire consists of 11 items, including staff attitudes, availability of staff, supportiveness, and helpfulness. The 5-point Likert scale provided ratings from 1 (strongly disagree) to 5 (strongly agree). Confirmatory factor analysis was performed using a robust maximum likelihood estimator. RESULTS: The analysis showed model fit data with good reliability. CONCLUSION: The PSS-M shows overall model fitness based on specific indices, with good construct validity and excellent absolute reliability to determine the satisfaction level of caregivers of children with ASD with respect to health care services.
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15. Papp LM, Hartley SL. {{Child-present and child-themed marital conflict in daily life of parents of children with and without autism spectrum disorder}}. {Developmental psychology}. 2018.
Parents of 5- to 12-year-old children (half had been diagnosed with autism spectrum disorder [ASD] and half were typically developing) provided reports of the most significant marital conflict of the day and ratings of child behaviors problems on a daily basis for 14 days. Mothers and fathers in the ASD group reported having more conflicts in daily life with any children present and more conflicts with the target child present than their counterparts with typically developing children did. Fathers (but not mothers) in the ASD group reported more conflicts as including child-related themes, although parents across the groups did not differ in their reporting marital conflict that specifically discussed the study’s target child. Results from multilevel modeling revealed within-person associations between child presence during marital conflict and parents’ emotions; specifically, child presence was related to lower dyadic positivity and higher dyadic anger, according to both mothers and fathers. In addition, results identified significant, positive within-person associations between child presence during marital conflict and discussing certain conflict topics (increased likelihoods of discussing any children and the study’s target children). These direct associations were found consistently across mothers’ and fathers’ reports, and did not vary across ASD and comparison families. Multilevel models focused on implications of the marital conflict for the study’s target children generally found child presence during conflict and discussion of child-themed conflict topics to predict higher levels of behavior problems in daily life. One moderating effect was identified, with child presence during conflict related to higher behavior problems according to mothers in the ASD group but not those in the comparison group. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
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16. Stice LV, Lavner JA. {{Social Connectedness and Loneliness Mediate the Association Between Autistic Traits and Internalizing Symptoms Among Young Adults}}. {Journal of autism and developmental disorders}. 2018.
Adults with autism and subclinical autistic traits report greater internalizing problems than their peers, but the psychological processes underlying these associations are not well understood. The current study used structural equation modeling to examine whether social experiences (social connectedness and loneliness) mediate the link between autistic traits and internalizing symptoms among 821 college students. Those with higher total Broader Autism Phenotype Questionnaire (BAPQ) scores reported lower social connectedness, which related to greater loneliness, and, in turn, greater anxious and depressive symptoms. Relations with specific BAPQ subscales were also examined. Results indicate that, among young adults, stronger subclinical autistic traits relate to greater mental health and social difficulties and point to the important role of social experiences in mental health adjustment.
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17. Waitara MS, Stuever M, Eiferman D, Steinberg S. {{Concomitant Fecal Impaction and Perforated Appendicitis in an Autistic Patient}}. {The American surgeon}. 2017; 83(12): e471-e3.
18. Zane E, Yang Z, Pozzan L, Guha T, Narayanan S, Grossman RB. {{Motion-Capture Patterns of Voluntarily Mimicked Dynamic Facial Expressions in Children and Adolescents With and Without ASD}}. {Journal of autism and developmental disorders}. 2018.
Research shows that neurotypical individuals struggle to interpret the emotional facial expressions of people with Autism Spectrum Disorder (ASD). The current study uses motion-capture to objectively quantify differences between the movement patterns of emotional facial expressions of individuals with and without ASD. Participants volitionally mimicked emotional expressions while wearing facial markers. Recorded marker movement was grouped by expression valence and intensity. We used Growth Curve Analysis to test whether movement patterns were predictable by expression type and participant group. Results show significant interactions between expression type and group, and little effect of emotion valence on ASD expressions. Together, results support perceptions that expressions of individuals with ASD are different from-and more ambiguous than-those of neurotypical individuals’.
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19. Zhang Q, Yang X, Wang J, Li J, Wu Q, Wen Y, Zhao Y, Zhang X, Yao H, Wu X, Yu S, Wei L, Bao X. {{Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2018.
PURPOSE: To determine the role of mosaicism in the pathogenesis and inheritance of Rett and Rett-like disorders. METHODS: We recruited 471 Rett and Rett-like patients. Panel-sequencing targeting MECP2, CDKL5, and FOXG1 was performed. Mosaicism was quantified in 147 patients by a Bayesian genotyper. Candidates were validated by amplicon sequencing and digital PCR. Germline mosaicism of 21 fathers with daughters carrying pathogenic MECP2 variants was further quantified. RESULTS: Pathogenic variants of MECP2/CDKL5/FOXG1 were found in 324/471 (68.7%) patients. Somatic MECP2 mosaicism was confirmed in 5/471 (1.1%) patients, including 3/18 males (16.7%) and 2/453 females (0.4%). Three of the five patients with somatic MECP2 mosaicism had mosaicism at MECP2-Arg106. Germline MECP2 mosaicism was detected in 5/21 (23.8%) fathers. CONCLUSION: This is the first systematic screening of somatic and paternal germline MECP2 mosaicism at a cohort level. Our findings indicate that somatic MECP2 mosaicism contributes directly to the pathogenicity of Rett syndrome, especially in male patients. MECP2-Arg106 might be a mosaic hotspot. The high proportion of paternal germline MECP2 mosaicism indicates an underestimated mechanism underlying the paternal origin bias of MECP2 variants. Finally, this study provides an empirical foundation for future studies of genetic disorders caused by de novo variations of strong paternal origin.
