1. Baker EK, Godler DE, Bui M, Hickerton C, Rogers C, Field M, Amor DJ, Bretherton L. {{Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes}}. {J Neurodev Disord}. 2018; 10(1): 24.
BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. RESULTS: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. CONCLUSIONS: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS.
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2. Cassidy S, Bradley L, Shaw R, Baron-Cohen S. {{Risk markers for suicidality in autistic adults}}. {Mol Autism}. 2018; 9: 42.
Background: Research has shown high rates of suicidality in autism spectrum conditions (ASC), but there is lack of research into why this is the case. Many common experiences of autistic adults, such as depression or unemployment, overlap with known risk markers for suicide in the general population. However, it is unknown whether there are risk markers unique to ASC that require new tailored suicide prevention strategies. Methods: Through consultation with a steering group of autistic adults, a survey was developed aiming to identify unique risk markers for suicidality in this group. The survey measured suicidality (SBQ-R), non-suicidal self-injury (NSSI-AT), mental health problems, unmet support needs, employment, satisfaction with living arrangements, self-reported autistic traits (AQ), delay in ASC diagnosis, and ‘camouflaging’ ASC. One hundred sixty-four autistic adults (65 male, 99 female) and 169 general population adults (54 males, 115 females) completed the survey online. Results: A majority of autistic adults (72%) scored above the recommended psychiatric cut-off for suicide risk on the SBQ-R; significantly higher than general population (GP) adults (33%). After statistically controlling for a range of demographics and diagnoses, ASC diagnosis and self-reported autistic traits in the general population significantly predicted suicidality. In autistic adults, non-suicidal self-injury, camouflaging, and number of unmet support needs significantly predicted suicidality. Conclusions: Results confirm previously reported high rates of suicidality in ASC, and demonstrate that ASC diagnosis, and self-reported autistic traits in the general population are independent risk markers for suicidality. This suggests there are unique factors associated with autism and autistic traits that increase risk of suicidality. Camouflaging and unmet support needs appear to be risk markers for suicidality unique to ASC. Non-suicidal self-injury, employment, and mental health problems appear to be risk markers shared with the general population that are significantly more prevalent in the autistic community. Implications for understanding and prevention of suicide in ASC are discussed.
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3. Chandroo R, Strnadova I, Cumming TM. {{A systematic review of the involvement of students with autism spectrum disorder in the transition planning process: Need for voice and empowerment}}. {Res Dev Disabil}. 2018; 83: 8-17.
BACKGROUND: Students with autism spectrum disorder (ASD) typically struggle with post-school employment, post-secondary education, and independent living outcomes. This may be due to their limited input on the goals that are set for their future during the transition planning process. AIM: The aim of this systematic review was to investigate the extent of involvement of students in their IEP transition planning meetings in published research on the topic to date. METHOD AND PROCEDURES: The authors reviewed articles published between 1994 and 2016. Searches were performed in ERIC, ProQuest Education Journals, PsycINFO, and Scopus databases, resulting in 15 articles meeting the inclusion criteria. OUTCOMES AND RESULTS: Out of the 15 articles included in this review, five were survey research articles and ten were intervention studies. The overall results of the studies revealed that students with ASD had minimal active involvement in the transition planning process. CONCLUSIONS AND IMPLICATIONS: It is essential for teachers to educate students about the transition planning process to increase their awareness of the purposes and procedures of the transition planning meeting. There is a pressing need for a more student-centred approach in transition planning to empower students and support them in becoming better self-advocates.
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4. Eslami N, Movahed T, Asadi M. {{Parents’ Perceptions of the Oral Health-related Quality of Life of their Autistic Children in Iran}}. {The Journal of clinical pediatric dentistry}. 2018.
OBJECTIVES: The aim of this study was to evaluate parents’ perception of the oral health-related quality of life (OHRQoL) of autistic children in Iran, and to determine the quality of life of their families in relation to child’ oral health status. STUDY DESIGN: 70 families with at least one child with autism, and 70 families with normal children were enrolled. Parents’ perceptions of the OHRQoL of children were assessed using pre-validated PedsQL oral health scale questionnaire. PedsQL Family Impact Module questionnaire was also used to evaluate the impact of having an autistic child on the quality of life of their families. Both of the questionnaires were filled by parents. Parents of children with autism spectrum filled a separate questionnaire for the sibling of the autistic child. In the control families, child-reported PedsQL oral health scale questionnaire was also filled by the child himself/herself. Mann-Whitney U-test, and chi-square were used for statistical analysis. RESULTS: There was a significant difference in the mean total score of PedsQL oral health scale questionnaire between autistics and controls. Parents of normal children reported more oral problems (p<0.001). There was not a significant difference in the mean total score of PedsQL Family Impact Module questionnaire between the families of autistics and controls in the last 7 and 30 days. CONCLUSION: According to parents' point of view, oral health-related quality of life of autistic children was better than normal children. However, parents of autistic children had more problems in the social and communication issues. Lien vers le texte intégral (Open Access ou abonnement)
5. Field SS. {{Factors Affecting Vaccination in Children and Their Siblings After Autism Spectrum Disorder Diagnosis}}. {JAMA Pediatr}. 2018.
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6. Ghodsi R, Kheirouri S, Nosrati R. {{ANNALS EXPRESS: Carnosine supplementation does not affect serum levels of advanced glycation and precursors of lipoxidation end products in autism: A randomized controlled clinical trial}}. {Annals of clinical biochemistry}. 2018: 4563218796860.
BACKGROUND: Abundant evidence indicates the increased levels of oxidative stress in patients with autism. Advanced glycation end products (AGEs) and advanced lipoxidation end products (ALEs) and their precursors play the major role in increased oxidative stress in numerous metabolic and neurologic diseases. Carnosine is a natural dipeptide with anti-glycation effects. The aim of this trial was to examine the effects of carnosine supplementation on the AGEs and the precursors of ALEs in patients with autism. METHOD: This randomized double-blind, placebo-controlled clinical trial was conducted on 36 autistic children, 18 in the carnosine group and 18 in the placebo group. The groups received a daily supplement of 500 mg carnosine or placebo for two months, respectively. Plasma levels of glycation and precursors of lipoxidation markers were evaluated by ELISA method. RESULTS: In all, 63.9% of the autistic children had normal nutritional status. Carnosine supplementation did not significantly alter plasma levels of AGEs and precursors of ALEs in autistic children. CONCLUSION: The findings indicate that supplementation of carnosine could not change AGEs and precursor of ALEs in autistic children.
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7. Gotham KO, Siegle GJ, Han GT, Tomarken AJ, Crist RN, Simon DM, Bodfish JW. {{Pupil response to social-emotional material is associated with rumination and depressive symptoms in adults with autism spectrum disorder}}. {PLoS One}. 2018; 13(8): e0200340.
BACKGROUND: Autism spectrum disorder (ASD) is marked by repetitive thinking and high rates of depression. Understanding the extent to which repetitive negative thinking in ASD reflects autistic stereotypy versus general depressive thinking patterns (e.g., rumination) could help guide treatment research to improve emotional health in ASD. We compared associations between rumination, depressive symptoms, and pupil response to social-emotional material in adults with ASD and typically developing (TD) adults with and without depression. METHODS: N = 53 verbally fluent young adults were recruited to three cohorts: ASD, n = 21; TD-depressed, n = 13; never-depressed TD-controls, n = 19. Participants completed Ruminative Response Scale and Beck Depression Inventory self-reports and a passive-viewing task employing emotionally-expressive faces, during which pupillary motility was assessed to quantify cognitive-affective load. Main and interactive effects of cohort, emotion condition, and time on pupil amplitude were tested via a linear mixed effects analysis of variance using restricted maximum likelihood estimation. Similar procedures were used to test for effects of rumination and depressive symptoms on pupil amplitude over time within ASD. RESULTS: Responsive pupil dilation in the ASD cohort tended to be significantly lower than TD-depressed initially but increased to comparable levels by trial end. When viewing sad faces, individuals with ASD who had higher depression scores resembled TD-depressed participants’ faster, larger, and sustained pupil response. Within ASD, depressive symptoms uniquely predicted early pupil response to sad faces, while rumination and depression scores each independently predicted sustained pupil response. CONCLUSIONS: People with elevated depressive symptoms appear to have faster and greater increases in pupil-indexed neural activation following sad stimuli, regardless of ASD status, suggesting the utility of conceptualizing rumination as depression-like in treatment. Ruminative processes may increase more slowly in ASD, suggesting the potential utility of interventions that decrease reactions before they are uncontrollable. Findings also reinforce the importance of testing for effects of internalizing variables in broader ASD research.
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8. Issarraras A, Matson JL, Matheis M, Burns CO. {{Differences in Developmental Concerns of Young Children with Autism Spectrum Disorder Across Racial/Ethnic Groups}}. {Dev Neurorehabil}. 2018: 1-6.
PURPOSE: Parents/caregivers of children with autism spectrum disorder (ASD) have varying types of initial concerns regarding their child’s development, which may be culturally bound to parents’ perceptions of their child’s development. This study investigated differences in the types of initial developmental concerns reported by parents or caregivers of different racial/ethnic groups with children in an early intervention program. METHOD: This study examined the frequency of endorsement of different types of concerns in African American, Caucasian, and Hispanic families. RESULTS: No significant differences between racial/ethnic groups were found in the endorsement of concerns related to communication, language/speech, motor, problem behavior, sensory, feeding, prematurity, attention, adaptive functioning, and medical conditions. Racial/ethnic groups differed significantly in their endorsement for social concerns. CONCLUSION: Racial/ethnic group differences were confirmed regarding initial developmental concerns related to social behavior, which may be due to cultural beliefs. The implications of these findings on early identification are discussed.
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9. Kraan CM, Godler DE, Amor DJ. {{Epigenetics of fragile X syndrome and fragile X-related disorders}}. {Dev Med Child Neurol}. 2018.
The fragile X mental retardation 1 gene (FMR1)-related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism. FXS usually results when a premutation trinucleotide CGG repeat in the 5′ untranslated region of the FMR1 gene (CGG 55-200) expands over generations to a full mutation allele (CGG >200). This expansion is associated with silencing of the FMR1 promoter via an epigenetic mechanism that involves DNA methylation of the CGG repeat and the surrounding regulatory regions. Decrease in FMR1 transcription is associated with loss of the FMR1 protein that is needed for typical brain development. The past decade has seen major advances in our understanding of the genetic and epigenetic processes that underlie FXS. Here we review these advances and their implications for diagnosis and treatment for individuals who have FMR1-related disorders.
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10. Laura P, Marie G, Romuald B, Catherine B, Sylvie R, Arnold M, Serge R, Nadia AH, Valerie M, Frederique BB. {{22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype}}. {Translational psychiatry}. 2018; 8(1): 146.
Phelan-McDermid syndrome is related to terminal 22q13 deletions of various sizes affecting the SHANK3 gene. In this neurodevelopmental disorder, behavioural symptoms of autism spectrum disorder (ASD) are reported in half of cases. Extensive clinical and neurophysiological characterization is lacking to understand the genotype-phenotype correlation. Eighteen patients (8 males, mean age 12.7 years, SD = 9.2) with known 22q13 deletions were fully explored with determination of deletion size, along with behavioural, language and cognitive standardized assessments. Neurophysiological indices previously reported to be altered in autism (i.e., eye tracking in a social/non-social task and auditory evoked potential mismatch) were also recorded. Thirty-nine percent met ASD clinical criteria, exceeding cut-off scores on both ADI-R (Autism Diagnosis Interview based on the period spanning 4-5 years of age) and ADOS-2 (Autism Diagnosis Observation Schedule for the current period). All patients had intellectual disability and language disability. Deletion size was significantly correlated with expressive and receptive language disability but not with ASD standardized assessment scores. Developmental Quotient tended to be lower in patients with the largest deletions. Using Eye Tracking, smaller pupil size, which is typically described in ASD, was not observed in these patients. Furthermore, atypical shortened latency of mismatch negativity response previously reported in ASD was not observed, whereas the N250 pattern, related to language, was affected. Language disability combined with cognitive deficits may lead to autistic behavioural symptoms, but with different neurophysiological networks compared to typical autism. These results highlight the indication for early speech therapy rather than intensive autism programme to treat these patients.
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11. Le Thi Thanh H, Do Thi Diem T, Duy CV, Thanh HLT, Phuong HBT, Thanh LN. {{Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome}}. {BMC Med Genet}. 2018; 19(1): 137.
BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6-18 months followed by a period of motor and vocal deterioration with stereotypic hand movements. Incidence of RTT is mostly due to de novo mutation in the MECP2 gene (methyl-CpG-binding protein 2). METHODS: The study assessed 27 female patients presented with classical RTT phenotype age range from 18 months to 48 months. Specialist carried out the clinical evaluation and diagnosis according to RTT diagnosis criteria. Blood samples from patients were then collected for genomic DNA extraction. We next performed MECP2 gene amplification and sequencing of the whole coding region to screen for mutations. RESULT: MECP2 mutation was found in 20 patients (74%) including: 2 missense, 4 nonsense, 6 frameshift and 2 deletion mutation. The study identified 14 pathogenic mutations which we found 4 mutation, to our knowledge and extensive search, not priory reported in any mutation database or publication: c.1384-1385DelGT, c.1205insT, c.717delC and c.1132_1207del77. High percentage of C > T (70%) in CpG sites mutation was found. CONCLUSION: Our result reveals a high percentage of C > T mutation in CpG hot spot, which is more prone to modification and more likely to be detected in RTT as a disorder is strictly due to de novo mutations. The study is the first to identify the mutation spectrum of MECP2 gene in Vietnamese patients and also an important step toward better diagnosis and care for RTT patients in Vietnam.
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12. Qin S, King S, Broder-Fingert S. {{Factors Affecting Vaccination in Children and Their Siblings After Autism Spectrum Disorder Diagnosis}}. {JAMA Pediatr}. 2018.
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13. Sandbank M, Cascio C. {{Using a motion-tracking device to facilitate motion control in children with ASD for neuroimaging}}. {Dev Neurorehabil}. 2018: 1-11.
PURPOSE: Conducting neurological scans of children with disabilities is difficult because participants exhibit excessive motion. We examined whether a motion-tracking system that combined real-time visual feedback with positive reinforcement and shaping could facilitate motion control in two children with autism spectrum disorder. METHODS: Using a modified changing criterion design, we evaluated whether the intervention could facilitate decreases in the participants’ range of motion and increases in duration of motion control in a mock scanner. RESULTS: Participants restricted head motion to increasingly smaller distance windows for 2 min. Once participants limited head displacement to 3 mm for 2 min, duration of motion control increased to a range of 7-20 min. Summary-level data from the actual scan suggests increases in motion control generalized outside of the intervention context. CONCLUSION: This study adds to the limited research on the use of behavioral interventions to increase motion control for neuroimaging in children with disabilities.
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14. Schaeken W, Van Haeren M, Bambini V. {{The Understanding of Scalar Implicatures in Children With Autism Spectrum Disorder: Dichotomized Responses to Violations of Informativeness}}. {Front Psychol}. 2018; 9: 1266.
This study investigated the understanding of underinformative sentences like « Some elephants have trunks » by children with autism spectrum disorder (ASD). The scalar term ‘some’ can be interpreted pragmatically, ‘Not all elephants have trunks,’ or logically, ‘Some and possibly all elephants have trunks.’ Literature indicates that adults with ASD show no real difficulty in interpreting scalar implicatures, i.e., they often interpret them pragmatically, as controls do. This contrasts with the traditional claim of difficulties of people with ASD in other pragmatic domains, and is more in line with the idea that pragmatic problems are not universal. The aim of this study was to: (a) gain insight in the ability of children with ASD to derive scalar implicatures, and (b) do this by assessing not only sensitivity to underinformativeness, but also different degrees of tolerance to violations of informativeness. We employed a classic statement-evaluation task, presenting optimal, logical false, and underinformative utterances. In Experiment 1, children had to express their judgment on a binary option ‘I agree’ vs. ‘I disagree.’ In Experiment 2, a ternary middle answer option ‘I agree a bit’ was also available. Sixty-six Flemish-speaking 10-year-old children were tested: 22 children with ASD, an IQ-matched group, and an age-matched group. In the binary judgment task, the ASD group gave more pragmatic answers than the other groups, which was significant in the mixed effects logistic regression analysis, although not in the non-parametric analysis. In the ternary judgment task, the children with ASD showed a dichotomized attitude toward the speaker’s meaning, by tending to either fully agree or fully disagree with underinformative statements, in contrast with TD children, who preferred the middle option. Remarkably, the IQ-matched group exhibited the same pattern of results as the ASD group. Thanks to a fine-grained measure such as the ternary judgment task, this study highlighted a neglected aspect of the pragmatic profile of ASD, whose struggle with social communication seems to affect also the domain of informativeness. We discuss the implications of the dichotomized reaction toward violations of informativeness in terms of the potential role of ASD and of cognitive and verbal abilities.
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15. Thiemann-Bourque K, Feldmiller S, Hoffman L, Johner S. {{Incorporating a Peer-Mediated Approach Into Speech-Generating Device Intervention: Effects on Communication of Preschoolers With Autism Spectrum Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(8): 2045-61.
Purpose: This study examined the effects of incorporating a peer-mediated approach into a speech-generating device (SGD) intervention on communication of 45 nonverbal and minimally verbal preschoolers with autism spectrum disorder (ASD) and 95 peers without disabilities. The SGD was an iPad 2 (Apple) with voice output app. Method: Effects were evaluated using a multivariate randomized control trial design with repeated measures for 4 cohorts across baseline, intervention, generalization, and maintenance phases. Children were randomly assigned to an experimental treatment that trained peers on use of the SGD or a business-as-usual comparison condition with untrained peers. Communication outcomes were measured for both children with ASD and peers. Results: Children receiving the treatment demonstrated significant increases in rates of communication and more balanced responses and initiations (a measure of reciprocity) than children in the comparison group. They were able to generalize improvements and maintain communication gains. Treatment fidelity was high for school staff and peer implementation. Conclusions: Results support positive effects on communication of teaching young children with ASD and peers without disabilities to use the same SGD system in typical preschool activities. SGD interventions that utilize peer-mediated approaches may improve core deficits in communication and reciprocity and allow for greater classroom social participation and interactions with peers.
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16. Tripathi N, Shankar RK, Baghdassarian A. {{Nutritional Rickets Presenting as Chronic Episodic Extremity Pain in a 9-year-old with Autism}}. {Clinical practice and cases in emergency medicine}. 2018; 2(3): 251-4.
Rickets due to vitamin D deficiency, typically presenting as bowed legs in toddlers, is uncommon in the modern era. We describe the case of a nine-year-old girl with autism and developmental delay who was evaluated for chronic intermittent extremity pain for more than one year prior to referral to the emergency department for hypocalcemia and increased alkaline phosphatase, which eventually led to the diagnosis of rickets confirmed by radiographic and laboratory findings. This report highlights the importance of the patient’s history of developmental delay and autism in the evaluation and approach to limb pain, and discusses the appropriate diagnostic approach.
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17. Walsh JJ, Christoffel DJ, Heifets BD, Ben-Dor GA, Selimbeyoglu A, Hung LW, Deisseroth K, Malenka RC. {{5-HT release in nucleus accumbens rescues social deficits in mouse autism model}}. {Nature}. 2018.
Dysfunction in prosocial interactions is a core symptom of autism spectrum disorder. However, the neural mechanisms that underlie sociability are poorly understood, limiting the rational development of therapies to treat social deficits. Here we show in mice that bidirectional modulation of the release of serotonin (5-HT) from dorsal raphe neurons in the nucleus accumbens bidirectionally modifies sociability. In a mouse model of a common genetic cause of autism spectrum disorder-a copy number variation on chromosome 16p11.2-genetic deletion of the syntenic region from 5-HT neurons induces deficits in social behaviour and decreases dorsal raphe 5-HT neuronal activity. These sociability deficits can be rescued by optogenetic activation of dorsal raphe 5-HT neurons, an effect requiring and mimicked by activation of 5-HT1b receptors in the nucleus accumbens. These results demonstrate an unexpected role for 5-HT action in the nucleus accumbens in social behaviours, and suggest that targeting this mechanism may prove therapeutically beneficial.
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18. Yamamoto T, Yamamoto-Shimojima K, Ueda Y, Imai K, Takahashi Y, Imagawa E, Miyake N, Matsumoto N. {{Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism}}. {Human genome variation}. 2018; 5: 18.
Consecutive occurrence of de novo variants in the same family is an extremely rare phenomenon. Two siblings, a younger brother with hypomyelinating leukodystrophy and an elder brother with severe intellectual disability and autistic features, had independent de novo variants of HSPD1 c.139T > G (p.Leu47Val) and HIP1 c.1393G > A (p.Glu465Lys), respectively. These novel variants were predicted to be pathogenic. Both patients also had a known MECP2 variant, c.499C > T (p.Arg167Trp).
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19. Yuan SNV, Ip HHS. {{Using virtual reality to train emotional and social skills in children with autism spectrum disorder}}. {London journal of primary care}. 2018; 10(4): 110-2.
With emerging technology, computerised, internet-based and virtual reality (VR)-based treatment and training became increasingly popular. VR provides an immersive experience into a simulated environment. Autism spectrum disorder (ASD) is characterised by social communication deficits and repetitive behaviours. Children with ASD often require social skills training while VR provides a safe, controllable environment to practice skills repeatedly. The Centre for Innovative Applications of Internet and Multimedia Technologies (AIMTech Centre) at City University of Hong Kong developed a VR-enabled training program to examine its efficacy on emotional and social skills with six VR scenarios depicting the daily lives of typical children in Hong Kong. 94 children from mainstream primary schools in Hong Kong completed the study and 72 children were included in the analysis. Children from training group scored higher on emotion expression and regulation (M = 20.2, SD = 3.00) than before the training (M = 18.9, SD = 3.57, t(35) = -2.174, p = .037) and higher on social interaction and adaptation after the training (M = 21.8, SD = 2.99) than before training (M = 20.2, SD = 3.43, t(35) = -3.987, p < .0005). There was a statistically significant interaction between group and time on affective expressions, F(1, 70) = 5.223, p = .025, partial eta(2) = .069, and on social reciprocity, F(1, 70) = 7.769, p = .007, partial eta(2) = .100. Children were able to engage in VR training despite initial challenges with viewing goggles. Some children declined to participate due to scheduling reasons which may be minimised through the adoption of head-mounted displays as a portable, cost-effective device. VR seems to be a promising asset to traditional training and therapy while the importance trainers' or therapists' support has yet to be further investigated. Lien vers le texte intégral (Open Access ou abonnement)
20. Zerbo O, Klein NP. {{Factors Affecting Vaccination in Children and Their Siblings After Autism Spectrum Disorder Diagnosis-Reply}}. {JAMA Pediatr}. 2018.