1. Arunachalam S, Luyster RJ. {{The integrity of lexical acquisition mechanisms in autism spectrum disorders: A research review}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Dec 21.
Research on autism spectrum disorders (ASD) has rapidly expanded in recent years, yielding important developments in both theory and practice. While we have gained important insights into how children with ASD differ from typically developing (TD) children in terms of phenotypic features, less has been learned about if and how development in ASD differs from typical development in terms of underlying mechanisms of change. This article aims to provide a review of processes subserving lexical development in ASD, with the goal of identifying contributing factors to the heterogeneity of language outcomes in ASD. The focus is on available evidence of the integrity or disruption of these mechanisms in ASD, as well as their significance for vocabulary development; topics include early speech perception and preference, speech segmentation, word learning, and category formation. Significant gaps in the literature are identified and future directions are suggested. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Brian JA, Smith IM, Zwaigenbaum L, Roberts W, Bryson SE. {{The Social ABCs caregiver-mediated intervention for toddlers with autism spectrum disorder: Feasibility, acceptability, and evidence of promise from a multisite study}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Dec 21.
The Social ABCs is a parent-mediated intervention for toddlers with suspected or confirmed autism spectrum disorder (ASD). We undertook a multi-site pilot study to evaluate feasibility and acceptability, and to identify trends in child and parent behavior to inform future research using a larger sample and a rigorous research design. The program involved 12 weeks of parent coaching, followed by 12 weeks’ implementation, and 3-month follow-up assessment for 20 parent-toddler dyads (age range: 12-32 months). Parents successfully learned the techniques and rated the intervention as highly acceptable. Paired samples t-tests revealed significant gains in children’s functional communication (responsivity, initiations), and language gains (age-equivalents on standardized measures) commensurate with typical developmental rates. Significant increases in shared smiling and social orienting also emerged, but were attenuated at follow-up. Parents’ fidelity was positively associated with child responsivity. Training parents as mediators is a feasible and highly acceptable approach that provides a potentially cost-effective opportunity for intensive intervention at a very young age at the first signs of ASD risk. Child and parent gains in several key variables demonstrate the promise of this intervention. Autism Res 2015. (c) 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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3. Byford S, Cary M, Barrett B, Aldred CR, Charman T, Howlin P, Hudry K, Leadbitter K, Le Couteur A, McConachie H, Pickles A, Slonims V, Temple KJ, Green J, Consortium P. {{Cost-effectiveness analysis of a communication-focused therapy for pre-school children with autism: results from a randomised controlled trial}}. {BMC psychiatry}. 2015;15(1):316.
BACKGROUND: Autism is associated with impairments that have life-time consequences for diagnosed individuals and a substantial impact on families. There is growing interest in early interventions for children with autism, yet despite the substantial economic burden, there is little evidence of the cost-effectiveness of such interventions with which to support resource allocation decisions. This study reports an economic evaluation of a parent-mediated, communication-focused therapy carried out within the Pre-School Autism Communication Trial (PACT). METHODS: 152 pre-school children with autism were randomly assigned to treatment as usual (TAU) or PACT + TAU. Primary outcome was severity of autism symptoms at 13-month follow-up. Economic data included health, education and social services, childcare, parental productivity losses and informal care. RESULTS: Clinically meaningful symptom improvement was evident for 53 % of PACT + TAU versus 41 % of TAU (odds ratio 1.91, p = 0.074). Service costs were significantly higher for PACT + TAU (mean difference pound4,489, p < 0.001), but the difference in societal costs was smaller and non-significant (mean difference pound1,385, p = 0.788) due to lower informal care rates for PACT + TAU. CONCLUSIONS: Improvements in outcome generated by PACT come at a cost. Although this cost is lower when burden on parents is included, the cost and effectiveness results presented do not support the cost-effectiveness of PACT + TAU compared to TAU alone. TRIAL REGISTRATION: Current Controlled Trials ISRCTN58133827. Lien vers le texte intégral (Open Access ou abonnement)
4. Chen YW, Bundy A, Cordier R, Chien YL, Einfeld S. {{The Experience of Social Participation in Everyday Contexts Among Individuals with Autism Spectrum Disorders: An Experience Sampling Study}}. {Journal of autism and developmental disorders}. 2015 Dec 21.
This study explored the everyday life experiences of individuals with an autism spectrum disorder (ASD). Fourteen Australians and 16 Taiwanese (aged 16-45 years) with Asperger syndrome/high functioning autism recorded what they were doing, level of interest/involvement, emotional reactions and preference for being alone 7 times/day for 7 days. Multilevel analyses showed that ‘solitary/parallel leisure’ and ‘social activities’ were positively associated with interest and involvement. Engaging in these two activities and interacting with friends were positively associated with enjoyment. However, engaging in ‘social activities’ and having less severe ASD symptoms were associated with in-the-moment anxiety. Severity of ASD and social anxiety moderated experience in social situations. The findings highlight the importance of considering the in-the-moment experience of people with ASD.
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5. Deng HZ, You C, Xing Y, Chen KY, Zou XB. {{A Family-Based Association Study of CYP11A1 and CYP11B1 Gene Polymorphisms With Autism in Chinese Trios}}. {Journal of child neurology}. 2015 Dec 21.
Autism spectrum disorder is a group of neurodevelopmental disorders with the higher prevalence in males. Our previous studies have indicated lower progesterone levels in the children with autism spectrum disorder, suggesting involvement of the cytochrome P-450scc gene (CYP11A1) and cytochrome P-45011beta gene (CYP11B1) as candidate genes in autism spectrum disorder. The aim of this study was to investigate the family-based genetic association between single-nucleotide polymorphisms, rs2279357 in the CYP11A1 gene and rs4534 and rs4541 in the CYP11B1 gene and autism spectrum disorder in Chinese children, which were selected according to the location in the coding region and 5′ and 3′ regions and minor allele frequencies of greater than 0.05 in the Chinese populations. The transmission disequilibrium test and case-control association analyses were performed in 100 Chinese Han autism spectrum disorder family trios. The genotype and allele frequency of the 3 single-nucleotide polymorphisms had no statistical difference between the children with autism spectrum disorder and their parents (P > .05). Transmission disequilibrium test analysis showed transmission disequilibrium of CYP11A1 gene rs2279357 single-nucleotide polymorphisms (chi2 = 5.038, P < .001). Our findings provide further support for the hypothesis that a susceptibility gene for autism spectrum disorder exists within or near the CYP11A1 gene in the Han Chinese population. Lien vers le texte intégral (Open Access ou abonnement)
6. Epstein A, Leonard H, Davis E, Williams K, Reddihough D, Murphy N, Whitehouse A, Downs E. {{Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods}}. {American journal of medical genetics Part A}. 2015 Dec 21.
Rett syndrome is a neurodevelopmental disorder mainly affecting females and associated with a mutation on the MECP2 gene. There has been no systematic evaluation of the domains of quality of life (QOL) in Rett syndrome. The aims of this study were to explore QOL in school-aged children with Rett syndrome and compare domains with those identified in other available QOL scales. The sample comprised 21 families registered with the Australian Rett Syndrome Database whose daughter with Rett syndrome was aged 6-18 years. Semi-structured telephone interviews were conducted with each parent caregiver (19 mothers, 2 fathers) to investigate aspects of their daughter’s life that were satisfying or challenging to her. Qualitative thematic analysis using a grounded theory framework was conducted, and emerging domains compared with those in two generic and three disability parent-report child QOL measures. Ten domains were identified: physical health, body pain, and discomfort, behavioral and emotional well-being, communication skills, movement and mobility, social connectedness, variety of activities, provision of targeted services, stability of daily routines, and the natural environment. The two latter domains were newly identified and each domain contained elements not represented in the comparison measures. Our data articulated important aspects of life beyond the genetic diagnosis. Existing QOL scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome. Our findings support the construction of a new parent-report measure to enable measurement of QOL in this group. (c) 2015 Wiley Periodicals, Inc.
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7. Fischer J, Smith H, Martinez-Pedraza F, Carter AS, Kanwisher N, Kaldy Z. {{Unimpaired attentional disengagement in toddlers with autism spectrum disorder}}. {Developmental science}. 2015 Dec 21.
A prominent hypothesis holds that ‘sticky’ attention early in life in children with autism spectrum disorder (ASD) limits their ability to explore and learn about the world. Under this hypothesis, the core clinical symptoms of ASD – restricted interests, repetitive behaviors and impaired social/communication abilities – could all result from impaired attentional disengagement during development. However, the existence of disengagement deficits in children with ASD is controversial, and a recent study found no deficit in 5- to 12-year-olds with ASD. Nonetheless, the possibility remains that disengagement is impaired earlier in development in children with ASD, altering their developmental trajectory even if the attentional deficit itself is remediated or compensated for by the time children with ASD reach school age. Here, we tested this possibility by characterizing attentional disengagement in a group of toddlers just diagnosed with ASD (age 21 to 37 months). We found strikingly similar performance between the ASD and age-matched typically developing (TD) toddlers, and no evidence of impaired attentional disengagement. These results show that even at a young age when the clinical symptoms of ASD are first emerging, disengagement abilities are intact. Sticky attention is not a fundamental characteristic of ASD, and probably does not play a causal role in its etiology.
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8. Glerean E, Pan RK, Salmi J, Kujala R, Lahnakoski JM, Roine U, Nummenmaa L, Leppamaki S, Nieminen-von Wendt T, Tani P, Saramaki J, Sams M, Jaaskelainen IP. {{Reorganization of functionally connected brain subnetworks in high-functioning autism}}. {Human brain mapping}. 2015 Dec 21.
Previous functional connectivity studies have found both hypo- and hyper-connectivity in brains of individuals having autism spectrum disorder (ASD). Here we studied abnormalities in functional brain subnetworks in high-functioning individuals with ASD during free viewing of a movie containing social cues and interactions. Twenty-six subjects (13 with ASD) watched a 68-min movie during functional magnetic resonance imaging. For each subject, we computed Pearson’s correlation between haemodynamic time-courses of each pair of 6-mm isotropic voxels. From the whole-brain functional networks, we derived individual and group-level subnetworks using graph theory. Scaled inclusivity was then calculated between all subject pairs to estimate intersubject similarity of connectivity structure of each subnetwork. Additional 54 individuals (27 with ASD) from the ABIDE resting-state database were included to test the reproducibility of the results. Between-group differences were observed in the composition of default-mode and ventro-temporal-limbic (VTL) subnetworks. The VTL subnetwork included amygdala, striatum, thalamus, parahippocampal, fusiform, and inferior temporal gyri. Further, VTL subnetwork similarity between subject pairs correlated significantly with similarity of symptom gravity measured with autism quotient. This correlation was observed also within the controls, and in the reproducibility dataset with ADI-R and ADOS scores. Our results highlight how the reorganization of functional subnetworks in individuals with ASD clarifies the mixture of hypo- and hyper-connectivity findings. Importantly, only the functional organization of the VTL subnetwork emerges as a marker of inter-individual similarities that co-vary with behavioral measures across all participants. These findings suggest a pivotal role of ventro-temporal and limbic systems in autism. Hum Brain Mapp, 2015. (c) 2015 Wiley Periodicals, Inc.
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9. Liew Z, Ritz B, Virk J, Olsen J. {{Maternal use of acetaminophen during pregnancy and risk of autism spectrum disorders in childhood: A Danish national birth cohort study}}. {Autism research : official journal of the International Society for Autism Research}. 2015 Dec 21.
Acetaminophen (paracetamol) is the most commonly used pain and fever medication during pregnancy. Previously, a positive ecological correlation between acetaminophen use and autism spectrum disorders (ASD) has been reported but evidence from larger studies based on prospective data is lacking. We followed 64,322 children and mothers enrolled in the Danish National Birth Cohort (DNBC; 1996-2002) for average 12.7 years to investigate whether acetaminophen use in pregnancy is associated with increased risk of ASD in the offspring. Information on acetaminophen use was collected prospectively from three computer-assisted telephone interviews. We used records from the Danish hospital and psychiatric registries to identify diagnoses of ASD. At the end of follow up, 1,027 (1.6%) children were diagnosed with ASD, 345 (0.5%) with infantile autism. We found that 31% of ASD (26% of infantile autism) have also been diagnosed with hyperkinetic disorders. More than 50% women reported ever using acetaminophen in pregnancy. We used Cox proportional hazards model to estimate hazard ratio (HR) and 95% confident interval (CI). Prenatal use of acetaminophen was associated with an increased risk of ASD accompanied by hyperkinetic symptoms (HR = 1.51 95% CI 1.19-1.92), but not with other ASD cases (HR = 1.06 95% CI 0.92-1.24). Longer duration of use (i.e., use for >20 weeks in gestation) increased the risk of ASD or infantile autism with hyperkinetic symptoms almost twofold. Maternal use of acetaminophen in pregnancy was associated with ASD with hyperkinetic symptoms only, suggesting acetaminophen exposure early in fetal life may specifically impact this hyperactive behavioral phenotype. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Padilla N, Eklof E, Martensson GE, Bolte S, Lagercrantz H, Aden U. {{Poor Brain Growth in Extremely Preterm Neonates Long Before the Onset of Autism Spectrum Disorder Symptoms}}. {Cerebral cortex (New York, NY : 1991)}. 2015 Dec 21.
Preterm infants face an increased risk of autism spectrum disorder (ASD). The relationship between autism during childhood and early brain development remains unexplored. We studied 84 preterm children born at <27 weeks of gestation, who underwent neonatal magnetic resonance imaging (MRI) at term and were screened for ASD at 6.5 years. Full-scale intelligence quotient was measured and neonatal morbidities were recorded. Structural brain morphometric studies were performed in 33 infants with high-quality MRI and no evidence of focal brain lesions. Twenty-three (27.4%) of the children tested ASD positive and 61 (72.6%) tested ASD negative. The ASD-positive group had a significantly higher frequency of neonatal complications than the ASD-negative group. In the subgroup of 33 children, the ASD infants had reduced volumes in the temporal, occipital, insular, and limbic regions and in the brain areas involved in social/behavior and salience integration. This study shows that the neonatal MRI scans of extremely preterm children, subsequently diagnosed with ASD at 6.5 years, showed brain structural alterations, localized in the regions that play a key role in the core features of autism. Early detection of these structural alterations may allow the early identification and intervention of children at risk of ASD. Lien vers le texte intégral (Open Access ou abonnement)
