Pubmed du 21/05/19

mardi 21 mai 2019

1. Adams D, Paynter J, Clark M, Roberts J, Keen D. The Developmental Behaviour Checklist (DBC) Profile in Young Children on the Autism Spectrum : The Impact of Child and Family Factors. J Autism Dev Disord. 2019.

High levels of emotional/behavioural difficulties are frequently reported in children on the autism spectrum. However, given the diversity in profiles, there is a need to explore such behaviours in relation to individual factors. Parents of 130 children aged 4-5 on the autism spectrum completed measures of behaviour and adaptive behaviour. Hierarchical multiple regressions explored child and family characteristics in relation to children’s emotional/behavioural presentation. Different aspects of the behavioural profile were associated with different factors, with child autism characteristics, medication use, and parent mental health making significant unique contributions to a range of behavioural subscales. Understanding individual profiles beyond total scores is therefore needed to truly understand the emotional and behavioural profile of specific subgroups.

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2. Austriaco K, Aban I, Willig J, Kong M. Contemporary Trainee Knowledge of Autism : How Prepared Are Our Future Providers ?. Front Pediatr. 2019 ; 7 : 165.

Background : Over the last several decades, the prevalence of Autism Spectrum Disorder (ASD) has continued to increase, creating a unique challenge for general physicians who are likely to encounter these patients in their practice. The primary aim of this cross-sectional study design was to identify potential knowledge gaps that were present among medical students and pediatric trainees (interns, residents, and fellows) particularly during the management of a sick child with ASD. Methods : A 23-question online survey was developed and distributed to medical students and pediatric trainees at a tertiary children’s hospital affiliated with a medical school. Results : Medical students and pediatric trainees reported a low general knowledge of ASD and were unfamiliar with sensory issues that are often present in these children. Increased discomfort and insufficient didactic and clinical training for providing care to children with ASD during an acute illness were also identified. Both medical students and trainees reported the need for increased education and training, preferentially via patient interaction and small group-based learning. We found that as education/training levels increased, participants perceived increased comfort, and knowledge in managing an ill child with ASD. Conclusions : A perceived knowledge gap and discomfort is present amongst medical students and pediatric trainees on the management of children with ASD. Across all education levels, awareness for sensory dysregulation in ASD children is low. Education programs using direct patient interaction and small group learning were the preferred training modalities to learn how to provide optimal care for children with ASD.

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3. Betz E, Hackman NM, Mayes S, Chin EM, Ivy JW, Tierney C. Validity of the Autism Mental Status Exam in Developmental Pediatrics and Primary Care Settings. Global pediatric health. 2019 ; 6 : 2333794x19847905.

The Autism Mental Status Exam (AMSE) is a brief clinician-completed observational instrument that has shown promise in identifying autism spectrum disorder (ASD) in a referred sample. Our study explores the feasibility of the AMSE in both developmental pediatric and primary care samples. Fifty-three toddlers with ASD and other disabilities were scored using the AMSE and compared with 55 typically developing toddlers. AMSE scores differed significantly between ASD, non-ASD developmental disability, and neurotypical groups. A cutoff score on the AMSE of >/=5 for ASD maximized sensitivity (81.2%) and specificity (90.5%). Score differences between groups suggest that the AMSE may be useful in a clinical setting to help identify children with possible ASD.

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4. Bishop-Fitzpatrick L, Dababnah S, Baker-Ericzen MJ, Smith MJ, Magana SM. Autism spectrum disorder and the science of social work : A grand challenge for social work research. Social work in mental health. 2019 ; 17(1) : 73-92.

The social work profession has not yet taken a leadership role in addressing the myriad of challenges that individuals on the autism spectrum encounter across the lifespan. In this essay, we argue that social workers are well equipped to engage in research and practice aimed at promoting full and meaningful inclusion in society, as well as social and economic justice, for individuals on the autism spectrum. We highlight short- and long-term goals that provide the social work profession with a framework to engage in research, practice, education, and advocacy aimed at supporting individuals on the autism spectrum and their families.

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5. Cosentino L, Vigli D, Franchi F, Laviola G, De Filippis B. Rett syndrome before regression : a time window of overlooked opportunities for diagnosis and intervention. Neurosci Biobehav Rev. 2019.

Rett syndrome (RTT) is a rare neurological disorder primarily affecting females, causing severe cognitive, social, motor and physiological impairments for which no cure currently exists. RTT clinical diagnosis is based on the peculiar progression of the disease, since patients show an apparently normal initial development with a subsequent sudden regression at around 2 years of age. Accumulating evidences are rising doubts regarding the absence of early impairments, hence questioning the concept of regression. We reviewed the published literature addressing the pre-symptomatic stage of the disease in both patients and animal models with a particular focus on behavioral, physiological and brain abnormalities. The emerging picture delineates subtle, but reliable impairments that precede the onset of overt symptoms whose bases are likely set up already during embryogenesis. Some of the outlined alterations appear transient, suggesting compensatory mechanisms to occur in the course of development. There is urgent need for more systematic developmental analyses able to detect early pathological markers to be used as diagnostic tools and precocious targets of time-specific interventions.

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6. Crandall MC, McDaniel J, Watson LR, Yoder PJ. The Relation Between Early Parent Verb Input and Later Expressive Verb Vocabulary in Children With Autism Spectrum Disorder. Journal of speech, language, and hearing research : JSLHR. 2019 : 1-11.

Purpose The purpose of this study was to evaluate if higher quantity, diversity, and grammatical informativeness of verb phrases in parent follow-in utterances (i.e., utterances that mapped onto child attentional leads) were significantly related to later expressive verb vocabulary in children with autism spectrum disorder (ASD). Method We examined these associations in a sample of 31 toddlers with ASD and their parents in a longitudinal correlational study. Key aspects of parents’ verb input were measured in 2 video-recorded 15-min parent-child free-play sessions. Child expressive verb vocabulary was measured using parent report. Results An aggregate variable composed of the quantity, diversity, and grammatical informativeness of parent verb input in follow-in utterances across the 2 parent-child sessions strongly and positively predicted later child expressive verb vocabulary, total R (2) = .25, even when early child expressive verb vocabulary was controlled, R (2) change = .17. Parent follow-in utterances without verbs were not significantly related to later child expressive verb vocabulary, R (2) = .001. Conclusions These correlational findings are initial steps toward developing a knowledge base for how strong verb vocabulary skills might be facilitated in children with ASD.

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7. Lee KS, Chung SJ, Thomas HR, Park J, Kim SH. Exploring diagnostic validity of the autism diagnostic observation schedule-2 in South Korean toddlers and preschoolers. Autism Res. 2019.

This study aims to provide the initial validity of the Autism Diagnostic Observation Schedule-2 (ADOS-2) Toddler Module and Module 1-2 for South Korean toddlers and preschoolers. Based on 143 children, the ASD group (n = 68) showed significantly higher ADOS-2 item and algorithm total scores as well as social affect and repetitive and restricted behaviors domain scores compared with children with nonspectrum (NS ; n = 42) disorders and typically developing (TD ; n = 33) children. Using lower algorithm cutoffs, sensitivities were excellent for the ASD versus NS/TD comparisons, ranging from 94% to 100% across different Modules. Specificities varied more, ranging from 82% to 100%. Internal consistency was strong with high item-total correlations (r of 0.6-0.9) and Cronbach’s Alphas (all above 0.7). Results demonstrated promising, initial evidence for the validity of the ADOS-2 for South Korean toddlers and preschoolers from 1 to 4 years of age. The ADOS-2 could be implemented, with minimal adaptations, in research and clinical settings in South Korea. This study is one of the first steps toward validating the ADOS-2 in other Eastern countries that are in great need for a valid instrument for the detection of ASD. Autism Res 2019, 1-11. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Results of this study demonstrated promising, initial evidence for the validity of a gold standard measure for the diagnosis of autism, the Autism Diagnostic Observation Schedule-2 (ADOS-2), for South Korean toddlers and preschoolers. The ADOS-2 could be implemented, with minimal adaptations, in research and clinical settings in South Korea. This study is one of the first steps toward validating the ADOS-2 in other Eastern countries that are in great need of a valid instrument for the detection of ASD.

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8. Ringland KE. A Place to Play : The (Dis)Abled Embodied Experience for Autistic Children in Online Spaces. Proceedings of the SIGCHI conference on human factors in computing systems CHI Conference. 2019 ; 2019.

Play is the work of children-but access to play is not equal from child to child. Having access to a place to play is a challenge for marginalized children, such as children with disabilities. For autistic children, playing with other children in the physical world may be uncomfortable or even painful. Yet, having practice in the social skills play provides is essential for childhood development. In this ethnographic work, I explore how one community uses the sense of place and the digital embodied experience in a virtual world specifically to give autistic children access to play with their peers. The contribution of this work is twofold. First, I demonstrate how various physical and virtual spaces work together to make play possible. Second, I demonstrate these spaces, though some of them are digital, are no more or less "real" than the physical spaces making up a schoolyard or playground.

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9. Roche L, Carnett A, Sigafoos J, Stevens M, O’Reilly MF, Lancioni GE, Marschik PB. Using a Textual Prompt to Teach Multiword Requesting to Two Children With Autism Spectrum Disorder. Behav Modif. 2019 : 145445519850745.

Autism spectrum disorder is characterized by social and communication impairment, but some children appear to have relative strength in areas such as reading printed words. The present study involved two children with limited expressive communication skills, but relatively stronger reading ability. Based on this existing strength, we evaluated a textual prompting procedure for teaching the children to produce multiword spoken requests. The effect of providing textual prompts on production of multiword requests was evaluated in an ABAB design. The results showed that multiword requests increased when textual prompts were provided and decreased when the prompts were removed. In subsequent phases, the textual prompts were successfully faded by gradually making the printed text lighter and lighter until eventually the prompts were eliminated altogether. We conclude that identification of children’s strengths may assist in identifying effective prompting procedures that could then be used in teaching functional communication skills.

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10. Vidal S, Brandi N, Pacheco P, Maynou J, Fernandez G, Xiol C, Pascual-Alonso A, Pineda M, Armstrong J. The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2019.

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene ; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical. Here, we attempted to identify other monogenic disorders that share features of RTT. A total of 437 patients with a clinical diagnosis of RTT-like were studied ; in 242 patients, a custom panel with 17 genes related to an RTT-like phenotype was run via a HaloPlex-Target-Enrichment-System. In the remaining 195 patients, a commercial TruSight-One-Sequencing-Panel was analysed. A total of 40 patients with clinical features of RTT had variants which affect gene function in six genes associated with other monogenic disorders. Twelve patients had variants in STXBP1, nine in TCF4, six in SCN2A, five in KCNQ2, four in MEF2C and four in SYNGAP1. Genetic studies using next generation sequencing (NGS) allowed us to study a larger number of genes associated with RTT-like simultaneously, providing a genetic diagnosis for a wider group of patients. These new findings provide the clinician with more information and clues that could help in the prevention of future symptoms or in pharmacologic therapy.

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11. Wang M, Zhang D, Huang J, Shen D, Liu M. Low-Rank Representation for Multi-center Autism Spectrum Disorder Identification. Medical image computing and computer-assisted intervention : MICCAI International Conference on Medical Image Computing and Computer-Assisted Intervention. 2018 ; 11070 : 647-54.

Effective utilization of multi-center data for autism spectrum disorder (ASD) diagnosis recently has attracted increasing attention, since a large number of subjects from multiple centers are beneficial for investigating the pathological changes of ASD. To better utilize the multi-center data, various machine learning methods have been proposed. However, most previous studies do not consider the problem of data heterogeneity (e.g., caused by different scanning parameters and subject populations) among multi-center datasets, which may degrade the diagnosis performance based on multi-center data. To address this issue, we propose a multi-center low-rank representation learning (MCLRR) method for ASD diagnosis, to seek a good representation of subjects from different centers. Specifically, we first choose one center as the target domain and the remaining centers as source domains. We then learn a domain-specific projection for each source domain to transform them into an intermediate representation space. To further suppress the heterogeneity among multiple centers, we disassemble the learned projection matrices into a shared part and a sparse unique part. With the shared matrix, we can project target domain to the common latent space, and linearly represent the source domain datasets using data in the transformed target domain. Based on the learned low-rank representation, we employ the k-nearest neighbor (KNN) algorithm to perform disease classification. Our method has been evaluated on the ABIDE database, and the superior classification results demonstrate the effectiveness of our proposed method as compared to other methods.

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12. Zhou H, Li CP, Wang TQ, Long SS, Du XN, Ma Y, Wang Y. [Autism spectrum disorder-like symptoms in the population with intellectual disability aged 6 to 18 years]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2019 ; 21(5) : 445-9.

OBJECTIVE : To investigate the incidence of autism spectrum disorder (ASD)-like symptoms in the population with intellectual disability (ID). METHODS : The students with ASD or ID, aged 6-18 years, who studied in a special school in Shanghai from January to June, 2017, as well as the typically developing (TD) population of the same age, who studied in a general school in Shanghai during the same period, were enrolled. Social Responsiveness Scale (SRS) was completed by their parents or other guardians, and the ASD-like symptoms were evaluated. RESULTS : A total of 69 subjects with ASD, 74 subjects with ID and 177 TD subjects were enrolled. The ID group had a significantly higher SRS-positive rate than the TD group (47.3% vs 1.7% ; P<0.001) and a significantly lower SRS-positive rate than the ASD group (47.3% vs 87.0% ; P<0.001). The total score of SRS was 114+/-26 in the ASD group, 80+/-24 in the ID group and 38+/-19 in the TD group. The ID group had a significantly higher total score of SRS than the TD group (P<0.05), and the score on the subscale of social cognition showed the most significant difference between the two groups (Cohen’s d=2.00). There were no significant differences in the total score of SRS and the scores on each subscale of SRS between the mild-to-moderate ID and severe-to-extremely severe ID groups (P>0.05), and there was no significant correlation between SRS score and IQ (P>0.05). CONCLUSIONS : The ID population aged 6-18 years has more ASD-like symptoms than the general population, and ASD screening and intervention should be performed for the ID population as early as possible.

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13. Zukerman G, Yahav G, Ben-Itzchak E. Diametrically opposed associations between academic achievement and social anxiety among university students with and without autism spectrum disorder. Autism Res. 2019.

Research findings indicate that anxiety, social anxiety in particular, is the most common experience reported by individuals with autism spectrum disorder (ASD) attending postsecondary education. Among students without ASD, higher levels of social anxiety have been postulated to correlate with impaired academic achievement ; restriction of one’s social network because of anxiety is thought to lead to reduction of access to resources important for learning such as social/emotional support and collaborative learning. However, despite growing interest in the outcomes of young students with ASD, no research has studied the associations between academic achievement and anxiety among students with ASD. This study examined the association between social anxiety and grade point average (GPA) among university students : 55 diagnosed with ASD, 31 without ASD but high levels of social anxiety, and 25 without ASD and with low levels of social anxiety (controls). GPAs were significantly lower for the ASD group than for the two non-ASD groups. Among students without ASD, a negative correlation between social anxiety and grades was observed whereas the reverse pattern was found for the ASD group, meaning that for students with ASD, higher levels of social anxiety were associated with higher grades. Additionally, in a regression analysis, ASD diagnosis, social anxiety, and the interaction of group x social anxiety significantly predicted GPA. Possible explanations for this finding, as well as implications for interventions among this population of high-functioning students with ASD, are discussed. Autism Res 2019. (c) 2019 International Society for AutismResearch,Wiley Periodicals, Inc. LAY SUMMARY : This study compared the relationship between levels of social anxiety and grades in students with autism spectrum disorder (ASD) and in students without ASD who had either high social anxiety or low social anxiety (controls). Among the group with ASD, higher levels of social anxiety were associated with higher grades, whereas the reverse pattern was found among the other groups. This finding’s implications for interventions among students with ASD are discussed.

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