1. Bishop-Fitzpatrick L, Mazefsky CA, Eack SM, Minshew NJ. {{Correlates of Social Functioning in Autism Spectrum Disorder: The Role of Social Cognition}}. {Res Autism Spectr Disord};2017 (Mar);35:25-34.
BACKGROUND: Individuals with autism spectrum disorder (ASD) experience marked challenges with social function by definition, but few modifiable predictors of social functioning in ASD have been identified in extant research. This study hypothesized that deficits in social cognition and motor function may help to explain poor social functioning in individuals with ASD. METHOD: Cross-sectional data from 108 individuals with ASD and without intellectual disability ages 9 through 27.5 were used to assess the relationship between social cognition and motor function, and social functioning. RESULTS: Results of hierarchical multiple regression analyses revealed that greater social cognition, but not motor function, was significantly associated with better social functioning when controlling for sex, age, and intelligence quotient. Post-hoc analyses revealed that, better performance on second-order false belief tasks was associated with higher levels of socially adaptive behavior and lower levels of social problems. CONCLUSIONS: Our findings support the development and testing of interventions that target social cognition in order to improve social functioning in individuals with ASD. Interventions that teach generalizable skills to help people with ASD better understand social situations and develop competency in advanced perspective taking have the potential to create more durable change because their effects can be applied to a wide and varied set of situations and not simply a prescribed set of rehearsed situations.
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2. Cidav Z, Munson J, Estes A, Dawson G, Rogers S, Mandell D. {{Cost Offset Associated With Early Start Denver Model for Children With Autism}}. {J Am Acad Child Adolesc Psychiatry};2017 (Sep);56(9):777-783.
OBJECTIVE: To determine the effect of the Early Start Denver Model (ESDM) for treatment of young children with autism on health care service use and costs. METHOD: We used data from a randomized trial that tested the efficacy of the ESDM, which is based on developmental and applied behavioral analytic principles and delivered by trained therapists and parents, for 2 years. Parents were interviewed about their children’s service use every 6 months from the onset of the intervention to follow-up (age 6 years). The sample for this study consisted of 39 children with autism who participated in the original randomized trial at age 18 to 30 months, and were also assessed at age 6 years. Of this sample, 21 children were in the ESDM group, and 18 children were in the community care (COM) group. Reported services were categorized and costed by applying unit hourly costs. Annualized service use and costs during the intervention and post intervention for the two study arms were compared. RESULTS: During the intervention, children who received the ESDM had average annualized total health-related costs that were higher by about $14,000 than those of children who received community-based treatment. The higher cost of ESDM was partially offset during the intervention period because children in the ESDM group used less applied behavior analysis (ABA)/early intensive behavioral intervention (EIBI) and speech therapy services than children in the comparison group. In the postintervention period, compared with children who had earlier received treatment as usual in community settings, children in the ESDM group used less ABA/EIBI, occupational/physical therapy, and speech therapy services, resulting in significant cost savings in the amount of about $19,000 per year per child. CONCLUSION: Costs associated with ESDM treatment were fully offset within a few years after the intervention because of reductions in other service use and associated costs. CLINICAL TRIAL REGISTRATION INFORMATION: Early Characteristics of Autism; http://clinicaltrials.gov/; NCT0009415.
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3. Dy ME, Waugh JL, Sharma N, O’Leary H, Kapur K, D’Gama AM, Sahin M, Urion DK, Kaufmann WE. {{Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective}}. {Pediatr Neurol};2017 (Jun 02)
INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as « central » or « peripheral, » « simple » or « complex, » scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. RESULTS: In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. CONCLUSION: Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS.
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4. Leslie DL. {{Understanding the Costs of Autism Services}}. {J Am Acad Child Adolesc Psychiatry};2017 (Sep);56(9):727-728.
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5. McKenzie K, Martin L, Ouellette-Kuntz H. {{Needles in the haystack: Using open-text fields to identify persons with intellectual and developmental disabilities in administrative home care data}}. {Res Dev Disabil};2017 (Aug 22);69:85-95.
BACKGROUND: Use of administrative health data to study populations of interest is becoming more common. Identifying individuals with intellectual and developmental disabilities (IDD) in existing databases can be challenging due to inconsistent definitions and terminologies of IDD over time and across sectors, and the inability to rely on etiologies of IDD as they are frequently unknown. AIMS: To identify diagnoses related to IDD in an administrative database and create a cohort of persons with IDD. METHODS: Open-text diagnostic entries related to IDD were identified in an Ontario home care database (2003-2015) and coded as being either acceptable (e.g. Down syndrome) or ambiguous (e.g. intellectually challenged). The cognitive and functional skills of the resulting groups were compared using logistic regressions and standardized differences, and their age distributions were compared to that of the general home care population. RESULTS: Just under 1% of the home care population had a diagnostic entry related to IDD. Ambiguous terms were most commonly used (61%), and this group tended to be older and less impaired than the group with more acceptable terms used to describe their IDD. CONCLUSIONS: Open-text diagnostic variables in administrative health records can be used to identify and study individuals with IDD. IMPLICATIONS: Future work is needed to educate assessors on the importance of using standard, accepted terminology when recording diagnoses related to IDD.
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6. Nakanishi M, Nomura J, Ji X, Tamada K, Arai T, Takahashi E, Bucan M, Takumi T. {{Functional significance of rare neuroligin 1 variants found in autism}}. {PLoS Genet};2017 (Aug);13(8):e1006940.
Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients. Moreover, synaptopathies are now known to cause several neuropsychiatric disorders including ASD. In humans, NLGNs consist of five family members, and neuroligin1 (NLGN1) is a major component forming a complex on excitatory glutamatergic synapses. However, the significance of NLGN1 in neuropsychiatric disorders remains unknown. Here, we systematically examine five missense variants of NLGN1 that were detected in ASD patients, and show molecular and cellular alterations caused by these variants. We show that a novel NLGN1 Pro89Leu (P89L) missense variant found in two ASD siblings leads to changes in cellular localization, protein degradation, and to the impairment of spine formation. Furthermore, we generated the knock-in P89L mice, and we show that the P89L heterozygote mice display abnormal social behavior, a core feature of ASD. These results, for the first time, implicate rare variants in NLGN1 as functionally significant and support that the NLGN synaptic pathway is of importance in the etiology of neuropsychiatric disorders.
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7. Tan DW, Gilani SZ, Maybery MT, Mian A, Hunt A, Walters M, Whitehouse AJO. {{Hypermasculinised facial morphology in boys and girls with Autism Spectrum Disorder and its association with symptomatology}}. {Sci Rep};2017 (Aug 24);7(1):9348.
Elevated prenatal testosterone exposure has been associated with Autism Spectrum Disorder (ASD) and facial masculinity. By employing three-dimensional (3D) photogrammetry, the current study investigated whether prepubescent boys and girls with ASD present increased facial masculinity compared to typically-developing controls. There were two phases to this research. 3D facial images were obtained from a normative sample of 48 boys and 53 girls (3.01-12.44 years old) to determine typical facial masculinity/femininity. The sexually dimorphic features were used to create a continuous ‘gender score’, indexing degree of facial masculinity. Gender scores based on 3D facial images were then compared for 54 autistic and 54 control boys (3.01-12.52 years old), and also for 20 autistic and 60 control girls (4.24-11.78 years). For each sex, increased facial masculinity was observed in the ASD group relative to control group. Further analyses revealed that increased facial masculinity in the ASD group correlated with more social-communication difficulties based on the Social Affect score derived from the Autism Diagnostic Observation Scale-Generic (ADOS-G). There was no association between facial masculinity and the derived Restricted and Repetitive Behaviours score. This is the first study demonstrating facial hypermasculinisation in ASD and its relationship to social-communication difficulties in prepubescent children.
