1. Alonso-Gonzalez A, Rodriguez-Fontenla C, Carracedo A. {{De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis}}. {Frontiers in genetics}. 2018; 9: 406.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by repetitive behavior and restricted interests. ASD is characterized by its clinical and etiological heterogeneity, which makes it difficult to elucidate the neurobiological mechanisms underlying its pathogenesis. Recently, de novo mutations (DNMs) have been recognized as strong source of genetic causality. Here, we review different aspects of the DNMs associated with ASD, including their functional annotation and classification. In addition, we also focus on the most recent advances in this area, such as the detection of PZMs (post-zygotic mutations), and we outline the main bioinformatics tools commonly employed to study these. Some of these approaches available allow DNMs to be analyzed in the context of gene networks and pathways, helping to shed light on the biological processes underlying ASD. To end this review, a brief insight into the future perspectives for genetic studies into ASD will be provided.
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2. Budimirovic DB, Cvjetkovic S, Bukumiric Z, Duy PQ, Protic D. {{Fragile X-Associated Disorders in Serbia: Baseline Quantitative and Qualitative Survey of Knowledge, Attitudes and Practices Among Medical Professionals}}. {Frontiers in neuroscience}. 2018; 12: 652.
We conducted a knowledge, attitude, and practice (KAP) survey of fragile X-associated disorders (FXD) in Serbia in order to obtain baseline quantitative and qualitative KAP data on fragile X mental retardation 1 gene (FMR1) pre- and full mutations (PM, FM). The survey’s 16-item questionnaire included a knowledge component (12/16), such as self-assessment knowledge (SAK) and factual knowledge (FK, 2/5 questions for PM, FXTAS and FXPOI). Education-directed attitudes in the FXD field and FMR1 DNA testing practices had 4/16 items, including brief case vignettes of FXTAS and FXPOI, respectively. The study’s cohort consisted of primary care physicians (referred to as « physicians » in the rest of the text) throughout Serbia (n = 284, aged 26-64 years, 176/284, 62.2% in Belgrade, Serbia) and senior medical students (n = 245, aged 23-30 years; 33.5% males) at the Belgrade School of Medicine. Strikingly, half of the survey respondents indicated « not having any » knowledge for the fragile X gene premutation and FXD. Physicians were more likely to indicate « not having any » knowledge than students (41.2% of physicians vs. 13.1% of students, P < 0.05). Roughly half of the students had "minimal knowledge" (53.5 vs. 30.5% of physicians, P < 0.05). Low FK was common in the cohort, as few physicians had "all correct answers" (7.5 vs. 3.7% of students, P < 0.05; 16.5 vs. 9.5% of students for the 2/5 premutation-related questions). Statistical analyses identified physicians' practice setting and length of clinical experience as predictors of the lack of FK on questions related to FXD. Physicians were more likely than students to indicate "strongly agreed" to expand their knowledge of the gene premutation and FXD (90.9 vs. 66.7% of students, P < 0.01). However, students more frequently indicated that they are willing to recommend DNA testing in their future practices than physicians (93.5 vs. 64.8% of physicians, P < 0.001). In conclusion, there is a major gap in knowledge regarding fragile X gene PM and FXD among the study's participants in Serbia. The study's informative-educational survey serves as an initial step in the process of enhancing the KAP of medical professionals with regards to the fragile X gene premutation and FXD. Lien vers le texte intégral (Open Access ou abonnement)
3. Gromis A, Liu K. {{The roles of neighborhood composition and autism prevalence on vaccination exemption pockets: A population-wide study}}. {Vaccine}. 2018.
The number of children entering schools without mandated vaccinations has increased in high-income countries due to the rise of nonmedical exemptions from school vaccination requirements. Herd immunity is threatened when unvaccinated children are concentrated in spatial pockets. Despite the role of vaccine-autism controversy in the current wave of the anti-vaccine movement, we do not know if exemption clusters are associated with local autism rates; it is often assumed that these clusters are merely the result of sociodemographic composition. This study uses data on the number of students with a Personal Belief Exemption reported by schools from 1992 to 2014 and unique data on the locations of children with an autism diagnosis in California to study the correlates of large exemption pockets. Our spatial analysis shows that the prevalence of autism is not associated with the locations of large pockets of vaccination exemptions. Likewise, the spatial distributions of socioeconomic factors and proximity to health care resources have limited roles in explaining these large exemption pockets. Racial/ethnic composition, however, has strong associations with the locations of the large pockets. Our results suggest that community-level interventions are needed to maintain herd immunity as exemption pockets are not merely the result of population composition.
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4. He L, Liu X, Song Y, Tang Y. {{[Role of NRXN-NLGN-SHANK pathway gene variations in the pathogenesis of autism spectrum disorders]}}. {Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics}. 2018; 35(5): 753-6.
Autism spectrum disorders (ASDs) comprise a group of common neurodevelopmental disorders whose pathogenesis remains unclear. More than 100 genes have been associated with ASDs, some of which have shown to play important roles in the development and function of synapses, a crucial step of information transmission between neurons. Studies have found abnormalities in synaptic transmission, density, and structures in the brains of autistic patients. NRXN-NLGN-SHANK pathway has been associated with synaptic function of the brain, and its primary role is to regulate synaptic formation, elimination, plasticity and maturation. Genes including NRXN, NLGN, SHANK, and PSD95 are involved in the NRXN-NLGN-SHANK pathway. Mutations of such genes may lead to dysfunction of the pathway and ASDs-related phenotypes found in patients and animal models. This paper has provided a review for the research progress made on the mutations of NRXN-NLGN-SHANK pathway related genes and their roles in the pathogenesis of ASDs.
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5. Healy S, Pacanowski CR, Williams E. {{Weight management interventions for youth with autism spectrum disorder: a systematic review}}. {International journal of obesity (2005)}. 2018.
BACKGROUND AND OBJECTIVE: In response to the elevated levels of overweight and obesity among children with autism spectrum disorder (ASD), this article provides a systematic review of the extant empirical literature reporting the effect of weight management interventions (including exercise, diet, and medication) for youth with ASD. DESIGN: A systematic review of published studies. The databases CINAHL, Web of Science, ERIC, Pubmed, and PsychINFO were searched, revealing 12 studies that were eligible for review. RESULTS: Of the included studies, half (n = 6) demonstrated significant weight loss; including comprehensive (n = 3), pharmaceutical (n = 2), and exercise (n = 1) interventions. Of relevance, and concern, was that only one of the included studies was determined to be of strong research quality, with the majority (n = 8) determined as being of weak study quality. Furthermore, studies included highly heterogeneous treatment approaches, study designs, and sample characteristics. CONCLUSIONS: This review demonstrates the potential of interventions (particularly individualized, comprehensive, and multidisciplinary team- based interventions) to effectively impact on weight among youth with ASD. It is imperative to rigorously test these interventions in individuals with ASD given the rates of obesity in this population and complications that ensue.
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6. Kawakami S, Uono S, Otsuka S, Zhao S, Toichi M. {{Everything has Its Time: Narrow Temporal Windows are Associated with High Levels of Autistic Traits Via Weaknesses in Multisensory Integration}}. {Journal of autism and developmental disorders}. 2018.
The present study examined whether fundamental sensory functions such as temporal processing and multisensory integration are related to autistic traits in the general population. Both a narrower temporal window (TW) for simultaneous perception, as measured by a temporal order judgement task, and a reduced ability to engage in multisensory integration during the sound-induced flash illusion task were related to higher levels of autistic traits. Additionally, a narrow TW is associated with high levels of autistic traits due to a deficiency in multisensory integration. Taken together, these findings suggest that alterations in fundamental functions produce a cascading effect on higher-order social and cognitive functions, such as those experienced by people with autism spectrum disorder.
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7. Kerley CP, Elnazir B, Greally P, Coghlan D. {{Blunted serum 25(OH)D response to vitamin D3 supplementation in children with autism}}. {Nutritional neuroscience}. 2018: 1-6.
INTRODUCTION: Data suggest a potential role for vitamin D in autism spectrum disorder (ASD) prevention and treatment. It is likely that the serum response to vitamin D supplementation contributes to its effectiveness. Multiple factors affect serum vitamin D 25(OH)D response to supplementation. METHODS: We conducted post-hoc analysis of two double-blind, randomized, placebo-controlled trials (RCT) of vitamin D3 supplementation, one RCT involving children with ASD and another involving children with asthma. Both trials were conducted in the same geographic location (Dublin, Ireland, 53 degrees N), conducted over Winter season and utilized the same vitamin D3 dose (2000 IU/day). RESULTS: We included 18 children with ASD and 17 children with asthma. There was no significant difference in 25(OH)D or age at baseline, however, BMI was significantly lower in ASD (P = 0.03). Compliance with vitamin D supplementation was high in both trials. Despite a significantly longer intervention period (20w vs. 15w; P < 0.0001), ASD children had a significantly lower absolute increase (+26 vs. +45 nmol/l) in 25(OH)D (P = 0.04). CONCLUSIONS: Despite similar demographics, children with ASD had a lower increase in 25(OH)D levels with supplementation. Potential mechanisms include altered absorption/metabolism as well as well genetic factors. Clinical and research work relating to vitamin D is ASD should measure 25(OHO)D response to supplementation to assess therapeutic doses. Lien vers le texte intégral (Open Access ou abonnement)
8. Kim SH, Grzadzinski R, Martinez K, Lord C. {{Measuring treatment response in children with autism spectrum disorder: Applications of the Brief Observation of Social Communication Change to the Autism Diagnostic Observation Schedule}}. {Autism : the international journal of research and practice}. 2018: 1362361318793253.
This study aims to determine the validity and reliability of applying the coding strategy from the Brief Observation of Social Communication Change, a newly validated treatment outcome measure, to videotaped segments of the Autism Diagnostic Observation Schedule. Results indicate strong reliability and validity of the Brief Observation of Social Communication Change ratings using the Autism Diagnostic Observation Schedule segments in detecting changes in social communication over the course of treatment in young, minimally verbal children with autism spectrum disorder. Results also suggest that the Brief Observation of Social Communication Change, when applied to Autism Diagnostic Observation Schedule segments, may be more sensitive in detecting subtle changes in social communication compared to the Autism Diagnostic Observation Schedule Calibrated Severity Scores. These results may support the application of the Brief Observation of Social Communication Change to pre-existing datasets of Autism Diagnostic Observation Schedule videos to examine treatment responses.
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9. Lim YH, Lee HC, Falkmer T, Allison GT, Tan T, Lee WL, Morris SL. {{Effect of Optic Flow on Postural Control in Children and Adults with Autism Spectrum Disorder}}. {Neuroscience}. 2018.
Individuals with autism spectrum disorder (ASD) have been associated with sensorimotor difficulties, commonly presented by poor postural control. Postural control is necessary for all motor behaviors. However, findings concerning the effect of visual motion on postural control and the age progression of postural control in individuals with ASD are inconsistent. The aims of the present study were to examine postural responses to optic flow in children and adults with and without ASD, postural responses to optic flow in the central and peripheral visual fields, and the changes in postural responses between the child and adult groups. Thirty-three children (8-12years old) and 33 adults (18-50years old) with and without ASD were assessed on quiet standing for 60s under conditions of varying optic flow illusions, consisting of different combinations of optic flow directions and visual field display. The results showed that postural responses to most optic flow conditions were comparable between children with and without ASD and between adults with and without ASD. However, adults with ASD appeared more responsive to forward-moving optic flow in the peripheral visual field compared with typically developed adults. The findings suggest that children and adults with ASD may not display maladaptive postural responses all the time. In addition, adults in the ASD group may have difficulties prioritizing visual information in the central visual field over visual information in the peripheral visual field when in unfamiliar environments, which may have implications in understanding their motor behaviors in new surroundings.
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10. Ma X, Chen K, Lu Z, Piechowicz M, Liu Q, Wu J, Qiu S. {{Disruption of MET Receptor Tyrosine Kinase, an Autism Risk Factor, Impairs Developmental Synaptic Plasticity in the Hippocampus}}. {Developmental neurobiology}. 2018.
As more genes conferring risks to neurodevelopmental disorders are identified, translating these genetic risk factors into biological mechanisms that impact the trajectory of the developing brain is a critical next step. Here, we report that disrupted signaling mediated MET receptor tyrosine kinase (RTK), an established risk factor for autism spectrum disorders, in the developing hippocampus glutamatergic circuit leads to profound deficits in neural development, synaptic transmission, and plasticity. In cultured hippocampus slices prepared from neonatal mice, pharmacological inhibition of MET kinase activity suppresses dendritic arborization and disrupts normal dendritic spine development. In addition, single-neuron knockdown (RNAi) or overexpression of Met in the developing hippocampal CA1 neurons leads to alterations, opposite in nature, in basal synaptic transmission and long-term plasticity. In forebrain-specific Met conditional knockout mice (Met(fx/fx) ;emx1(cre) ), an enhanced long-term potentiation (LTP) and long-term depression (LTD) were observed at early developmental stages (P12-14) at the Schaffer collateral to CA1 synapses compared with wild-type littermates. In contrast, LTP and LTD were markedly reduced at young adult stage (P56-70) during which wild-type mice show robust LTP and LTD. The altered trajectory of synaptic plasticity revealed by this study indicate that temporally regulated MET signaling as an intrinsic, cell autonomous, and pleiotropic mechanism not only critical for neuronal growth and functional maturation, but also for the timing of synaptic plasticity during forebrain glutamatergic circuits development.
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11. Manfredonia J, Bangerter A, Manyakov NV, Ness S, Lewin D, Skalkin A, Boice M, Goodwin MS, Dawson G, Hendren R, Leventhal B, Shic F, Pandina G. {{Automatic Recognition of Posed Facial Expression of Emotion in Individuals with Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
Facial expression is impaired in autism spectrum disorder (ASD), but rarely systematically studied. We focus on the ability of individuals with ASD to produce facial expressions of emotions in response to a verbal prompt. We used the Janssen Autism Knowledge Engine (JAKE((R))), including automated facial expression analysis software (FACET) to measure facial expressions in individuals with ASD (n = 144) and a typically developing (TD) comparison group (n = 41). Differences in ability to produce facial expressions were observed between ASD and TD groups, demonstrated by activation of facial action units (happy, scared, surprised, disgusted, but not angry or sad). Activation of facial action units correlated with parent-reported social communication skills. This approach has potential for diagnostic and response to intervention measures. Trial Registration NCT02299700.
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12. Nayar K, Gordon PC, Martin GE, Hogan AL, La Valle C, McKinney W, Lee M, Norton ES, Losh M. {{Links between looking and speaking in autism and first-degree relatives: insights into the expression of genetic liability to autism}}. {Molecular autism}. 2018; 9: 51.
Background: Rapid automatized naming (RAN; naming of familiar items presented in an array) is a task that taps fundamental neurocognitive processes that are affected in a number of complex psychiatric conditions. Deficits in RAN have been repeatedly observed in autism spectrum disorder (ASD), and also among first-degree relatives, suggesting that RAN may tap features that index genetic liability to ASD. This study used eye tracking to examine neurocognitive mechanisms related to RAN performance in ASD and first-degree relatives, and investigated links to broader language and clinical-behavioral features. Methods: Fifty-one individuals with ASD, biological parents of individuals with ASD (n = 133), and respective control groups (n = 45 ASD controls; 58 parent controls) completed RAN on an eye tracker. Variables included naming time, frequency of errors, and measures of eye movement during RAN (eye-voice span, number of fixations and refixations). Results: Both the ASD and parent-ASD groups showed slower naming times, more errors, and atypical eye-movement patterns (e.g., increased fixations and refixations), relative to controls, with differences persisting after accounting for spousal resemblance. RAN ability and associated eye movement patterns were correlated with increased social-communicative impairment and increased repetitive behaviors in ASD. Longer RAN times and greater refixations in the parent-ASD group were driven by the subgroup who showed clinical-behavioral features of the broad autism phenotype (BAP). Finally, parent-child dyad correlations revealed associations between naming time and refixations in parents with the BAP and increased repetitive behaviors in their child with ASD. Conclusions: Differences in RAN performance and associated eye movement patterns detected in ASD and in parents, and links to broader social-communicative abilities, clinical features, and parent-child associations, suggest that RAN-related abilities might constitute genetically meaningful neurocognitive markers that can help bridge connections between underlying biology and ASD symptomatology.
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13. Ousset A, Bassand C, Chavez PF, Meeus J, Robin F, Schubert MA, Somville P, Dodou K. {{Development of a small-scale spray-drying approach for amorphous solid dispersions (ASDs) screening in early drug development}}. {Pharmaceutical development and technology}. 2018: 1-47.
The present study details the development of a small-scale spray-drying approach for the routine screening of amorphous solid dispersions (ASDs). This strategy aims to overcome the limitations of standard screening methodologies like solvent casting and quench cooling to predict drug-polymer miscibility of spray-dried solid dispersions (SDSDs) and therefore to guarantee appropriate carrier and drug-loading (DL) selection. A DoE approach was conducted to optimize process conditions of ProCept 4M8-TriX spray-drying to maximize the yield from a 100 mg batch of Itraconazole/HPMCAS-LF and Itraconazole/Soluplus 40:60 (w/w). Optimized process parameters include: inlet temperature, pump speed, drying and atomizing airflows. Identified process conditions derived from the DoE analysis were further i) tested with Itraconazole, Naproxen and seven polymers, ii) adapted for small cyclone use, iii) downscaled to 20 mg batch production. Drug-polymer miscibility was systematically characterized using modulated differential scanning calorimetry (mDSC). Spray-drying was identified as a well-suited screening approach: mean yield of 10.1 to 40.6% and 51.1 to 81.0% were obtained for 20 and 100 mg ASD productions, respectively. Additionally, this work demonstrates the interest to move beyond conventional screening approaches and integrate spray-drying during screening phases so that a greater prediction accuracy in terms of SDSDs miscibility and performance can be obtained.
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14. Pu S, Nakagome K, Satake T, Ohtachi H, Itakura M, Yamanashi T, Miura A, Yokoyama K, Matsumura H, Iwata M, Nagata I, Kaneko K. {{Comparison of prefrontal hemodynamic responses and cognitive deficits between adult patients with autism spectrum disorder and schizophrenia}}. {Schizophrenia research}. 2018.
Autism spectrum disorder (ASD) and schizophrenia share many phenotypic characteristics, but their association with prefrontal function have not been directly compared. The aim of this study is to compare cognitive profiles and their association with the prefrontal function between the two groups. We explored prefrontal dysfunction among adult individuals with ASD (n=32), schizophrenia (n=87), and healthy controls (HCs; n=50). We assessed cognitive function in all participants using the Brief Assessment of Cognition in Schizophrenia (BACS). The BACS data of patients with schizophrenia were entered into hierarchical cluster analyses to assign subjects to a specific subgroup based on individual profiles. Using near-infrared spectroscopy, we measured hemodynamic responses in the fronto-temporal regions during a working memory task. Among the patients with schizophrenia, we defined 4 neurocognitive subgroups, including a global impairment, a mild impairment, and 2 selective impairment groups. Compared to the HCs, the ASD and schizophrenia groups had much weaker hemodynamic responses in the left DLPFC, left frontopolar cortex (FPC), and left inferior frontal gyrus. The ASD group showed a similar level of cognitive impairment with the mild level subgroup of schizophrenia. Additionally, the two groups shared reduced activity in the left DLPFC and left FPC during the task compared to HCs. Moreover, the BACS composite scores correlated positively with hemodynamic responses in a broad area involving fronto-temporal regions in the total patient sample. This research indicates considerable similarity in the left PFC dysfunction and its association with cognitive deficits between the disorders. These findings may guide future studies that investigate pathophysiological similarities between ASD and schizophrenia.
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15. Rasmussen L, Bilenberg N, Thomsen Ernst M, Abitz Boysen S, Pottegard A. {{Use of Psychotropic Drugs among Children and Adolescents with Autism Spectrum Disorders in Denmark: A Nationwide Drug Utilization Study}}. {Journal of clinical medicine}. 2018; 7(10).
Children with autism spectrum disorder (ASD) have a considerable use of psychotropics. Leveraging nationwide registry data, we aimed to describe the use of psychotropics among children and adolescents with ASD in Denmark. Use of melatonin and attention-deficit/hyperactivity disorder (ADHD) medication increased from 2010 to 2017, while there were limited changes in use of antidepressants and antipsychotics. Thirty percent of the identified children used psychotropics in 2017 most commonly ADHD medication (17%) and melatonin (13%). Methylphenidate, sertraline and risperidone were most often prescribed. Most children filled more than one prescription and, across drug classes, at least 38% received treatment two years after treatment initiation. Use of psychotropics followed psychiatric comorbidities. Comorbidities did not affect age at treatment initiation. Use of psychotropics varied according to age and sex with limited use in the youngest children. In summary, psychotropic drug use has increased in children with ASD mainly due to an increase in the use of ADHD medication and melatonin. In accordance with previous studies, use seems to follow comorbidities. The long treatment duration underlines the need to investigate long-term effects of psychotropic drug use in children with ASD.
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16. Stahlhut M, Esbensen BA, Larsen JL, Bisgaard AM, Downs J, Nordmark E. {{Facilitators and Barriers of Participation in « Uptime » Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals}}. {Qualitative health research}. 2018: 1049732318803358.
Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. It is associated with intellectual and multiple disabilities leading to a high level of dependency in all aspects of daily living including participation in physical activities. This study explored facilitators and barriers to « uptime » (non-sedentary) activities in Danish girls and women with RTT as perceived by parents and professionals using focus groups. Through thematic analysis, one central theme emerged: a constant balance to do the best thing for the girl or woman. Within the central theme, five subthemes of facilitators and barriers were identified relating to the individual and the physical, organizational, social, and attitudinal environments. Environmental barriers can be reduced through policy and management-level changes in health promotion and strong advocacy of physical activity by health professionals. Targeting both facilitators and barriers of « uptime » activities enables the planning and implementing of health-promoting interventions in individuals with RTT.
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17. Thompson C, Bolte S, Falkmer T, Girdler S. {{Viewpoints on how students with autism can best navigate university}}. {Scandinavian journal of occupational therapy}. 2018: 1-12.
BACKGROUND: Despite recognition of the challenges faced by students with autism spectrum disorders (ASD) there is limited understanding of the barriers and facilitators to participation in major life areas, such as being a university student. AIM/OBJECTIVE: This research aimed to examine viewpoints on what affects the success of Australian university students with ASD. MATERIAL AND METHOD: Q-methodology was used to describe the viewpoints of university students with ASD, their parents and their mentors, on success at university for students with ASD. A total of 57 participants completed the Q-sort. RESULTS/FINDINGS: Three viewpoints emerged; Individualised Support, Contextual Support and Social Support. CONCLUSIONS: This study highlighted that supports need to be individualized to the barriers and facilitators faced by Australian students with ASD. Supports also need to be contextualized to the built and social environments of universities. SIGNIFICANCE: This study supports the premise that environmental interventions can be effective in facilitating participation in major life areas, such as university education. Peer mentoring for students with ASD may have utility for this group, but should be extended to include social, emotional and psychological support.
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18. Vivanti G, Dissanayake C, Duncan E, Feary J, Capes K, Upson S, Bent CA, Rogers SJ, Hudry K. {{Outcomes of children receiving Group-Early Start Denver Model in an inclusive versus autism-specific setting: A pilot randomized controlled trial}}. {Autism : the international journal of research and practice}. 2018: 1362361318801341.
A major topic of debate is whether children with autism spectrum disorder should be educated in inclusive or specialized settings. We examined the feasibility and preliminary effectiveness of delivering the Group-Early Start Denver Model to children with autism spectrum disorder in inclusive versus specialized classrooms. We randomly assigned 44 preschoolers with autism spectrum disorder to receive the Group-Early Start Denver Model across one school calendar year in classrooms that included only children with autism spectrum disorder or mostly children who were typically developing. Blind-rated indicators of teaching quality showed similar results across settings, which were above the local benchmark. Children showed improvements across blinded proximal measures of spontaneous vocalization, social interaction, and imitation and across distal measures of verbal cognition, adaptive behavior, and autism symptoms irrespective of intervention setting. Mothers of participants experienced a reduction in stress irrespective of child intervention setting. Across both settings, age at intervention start was negatively associated with gains in verbal cognition. Delivery of Group-Early Start Denver Model in an inclusive setting appeared to be feasible, with no significant differences in teaching quality and child improvements when the program was implemented in inclusive versus specialized classrooms.
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19. Vousden B, Wilkes-Gillan S, Cordier R, Froude E. {{The play skills of children with high-functioning autism spectrum disorder in peer-to-peer interactions with their classmates: A multiple case study design}}. {Australian occupational therapy journal}. 2018.
BACKGROUND/AIM: Children with ASD are known to have lower play skills than their typically developing peers. However, the play skills of children with ASD are rarely investigated using observational measures in the context of their everyday peer-to-peer play interactions. To explore the play skills of children with ASD and their aged matched classmates during a peer-to-peer play interaction. METHODS: Using convenience sampling, four children with ASD (5-11 years) attending mainstream schools were recruited for this multiple case design study. Each child with ASD was paired with one of their aged matched typically developing classmates. Children’s play skills were measured using the Test of Playfulness (ToP). Additional case data were collected through teacher-reported social skills and behaviours. Rasch analysis was utilised to convert raw ToP scores into an interval level overall score for each child. Children’s individual ToP item scores, social skills and behaviours are presented by case. RESULTS: The two children with ASD who had the highest ToP scores, also had the highest teacher-reported social skills. All children with ASD had greatest difficulty on ToP items reflecting suspension of reality and framing. Two children with ASD had higher ToP scores than their classmate. In these two cases, the classmates had similar play skills of children with ASD. CONCLUSION: The play skills of children with ASD varied by case. Across the cases, teacher-reported social skills, classmate age and existence of friendship between children were all factors observed to influence play. These findings require replication and investigation in larger scale studies.
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20. Xi H, Zhang Y, Qin L, Kang H, Duan R, Jia Z, Wang H. {{[Genetic screening and prenatal diagnosis for high risk families of Fragile X syndrome]}}. {Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics}. 2018; 35(5): 653-6.
OBJECTIVE: To assess the value of genetic testing for Fragile X syndrome (FXS). METHODS: A domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting. RESULTS: Pedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus. In pedigree 6, the proband was mosaic for a full-mutation allele and a pre-mutation allele. His sister was asymptomatic with a full-mutation. His mother carried pre-mutation allele, while his father and sister’s baby were normal. The number of CGG repeats of the pedigrees 2 to 5 were in the normal range. CONCLUSION: Genetic testing can provide an effective way to prevent FXS caused by FMR1 mutations and enable prenatal diagnosis for families with a high risk for the disease.
