1. Allen ML, Lewis C. {{Communication and Symbolic Research in Autism Spectrum Disorder: Linking Method and Theory}}. {J Autism Dev Disord}. 2014.
Lien vers le texte intégral (Open Access ou abonnement)
2. Banerjee A, Engineer CT, Sauls BL, Morales AA, Kilgard MP, Ploski JE. {{Abnormal emotional learning in a rat model of autism exposed to valproic acid}}. {Front Behav Neurosci}. 2014; 8: 387.
Autism Spectrum Disorders (ASD) are complex neurodevelopmental disorders characterized by repetitive behavior and impaired social communication and interactions. Apart from these core symptoms, a significant number of ASD individuals display higher levels of anxiety and some ASD individuals exhibit impaired emotional learning. We therefore sought to further examine anxiety and emotional learning in an environmentally induced animal model of ASD that utilizes the administration of the known teratogen, valproic acid (VPA) during gestation. Specifically we exposed dams to one of two different doses of VPA (500 and 600 mg/kg) or vehicle on day 12.5 of gestation and examined the resultant progeny. Our data indicate that animals exposed to VPA in utero exhibit enhanced anxiety in the open field test and normal object recognition memory compared to control animals. Animals exposed to 500 mg/kg of VPA displayed normal acquisition of auditory fear conditioning, and exhibited reduced extinction of fear memory and normal litter survival rates as compared to control animals. We observed that animals exposed to 600 mg/kg of VPA exhibited a significant reduction in the acquisition of fear conditioning, a significant reduction in social interaction and a significant reduction in litter survival rates as compared to control animals. VPA (600 mg/kg) exposed animals exhibited similar shock sensitivity and hearing as compared to control animals indicating the fear conditioning deficit observed in these animals was not likely due to sensory deficits, but rather due to deficits in learning or memory retrieval. In conclusion, considering that progeny from dams exposed to rather similar doses of VPA exhibit striking differences in emotional learning, the VPA model may serve as a useful tool to explore the molecular and cellular mechanisms that contribute to not only ASD, but also emotional learning.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bremer E, Balogh R, Lloyd M. {{Effectiveness of a fundamental motor skill intervention for 4-year-old children with autism spectrum disorder: A pilot study}}. {Autism}. 2014.
A wait-list control experimental design was employed to investigate the effectiveness of a fundamental motor skill intervention at improving the motor skills, adaptive behavior, and social skills of 4-year-old children with autism spectrum disorder (experimental n = 5, control n = 4); the impact of intervention intensity was also explored. The experimental group significantly improved their object manipulation and overall motor scores from pre- to post-intervention. The wait-list control design revealed no group-by-time interactions; however, with the groups combined time was a significant factor for all motor variables. There were no significant changes in adaptive behavior and social skills. These preliminary findings suggest that a fundamental motor skill intervention may benefit young children with autism spectrum disorder. Future research with larger samples is warranted.
Lien vers le texte intégral (Open Access ou abonnement)
4. Campbell SB, Leezenbaum NB, Mahoney AS, Day TN, Schmidt EN. {{Social engagement with parents in 11-month-old siblings at high and low genetic risk for autism spectrum disorder}}. {Autism}. 2014.
Infant siblings of children with an autism spectrum disorder are at heightened genetic risk to develop autism spectrum disorder. We observed high risk (n = 35) and low risk (n = 27) infants at 11 months during free play with a parent. Children were assessed for autism spectrum disorder in toddlerhood. High-risk infants with a later diagnosis (n = 10) were less socially engaged with their parents than were low-risk infants. Parent behavior during play did not vary by group. Within the high-risk group, ratings of social reciprocity at 11 months predicted Autism Diagnostic Observation Schedule severity scores at follow-up, suggesting that systematic observations of parent-infant play may be a useful addition to early assessments of emerging autism spectrum disorder.
Lien vers le texte intégral (Open Access ou abonnement)
5. Du RY, Yiu CK, King NM, Wong VC, McGrath CP. {{Oral health among preschool children with autism spectrum disorders: A case-control study}}. {Autism}. 2014.
AIM: To assess and compare the oral health status of preschool children with and without autism spectrum disorders. METHODS: A random sample of 347 preschool children with autism spectrum disorder was recruited from 19 Special Child Care Centres in Hong Kong. An age- and gender-matched sample was recruited from mainstream preschools as the control group. Dental caries status, gingival health status, tooth wear, malocclusion, dental trauma and oral mucosal health were assessed and compared between the two groups. RESULTS: It was feasible to conduct a comprehensive oral health screening among 74.1% (257) of the children with autism spectrum disorder. The mean age was 59 +/- 10 months (range from 32 to 77 months), of whom 84.4% were males. Children with autism spectrum disorder had better gingival health than children without autism spectrum disorder (mean plaque score and gingival score p < 0.001). Children with autism spectrum disorder had less caries experiences than children without autism spectrum disorder (mean decayed, missing and filled surfaces and decayed surfaces, p < 0.05). Children with and without autism spectrum disorder had similar prevalence of tooth wear, malocclusion, dental trauma experience and oral mucosal lesions (p > 0.05). CONCLUSION: Differences in oral health status exist among preschool children with and without autism spectrum disorder. Preschool children with autism spectrum disorder exhibited lower caries experiences and better gingival health than children without autism spectrum disorder.
Lien vers le texte intégral (Open Access ou abonnement)
6. Eapen V, Clarke RA. {{Autism Spectrum Disorders: From Genotypes to Phenotypes}}. {Front Hum Neurosci}. 2014; 8: 914.
Lien vers le texte intégral (Open Access ou abonnement)
7. Fitzgerald J, Johnson K, Kehoe E, Bokde AL, Garavan H, Gallagher L, McGrath J. {{Disrupted Functional Connectivity in Dorsal and Ventral Attention Networks During Attention Orienting in Autism Spectrum Disorders}}. {Autism Res}. 2014.
BACKGROUND: Attention orienting is a cognitive process that facilitates the movement of attention focus from one location to another: this may be impaired in autism spectrum disorder (ASD). Dorsal and ventral attention networks (DAN and VAN) sub-serve the process of attention orienting. This study investigated the functional connectivity of attention orienting in these networks in ASD using the Posner Cueing Task. METHOD: Twenty-one adolescents with ASD and 21 age and IQ matched controls underwent functional magnetic resonance imaging. A psychophysical interaction (PPI) analysis was implemented to investigate task-dependent functional connectivity, measuring synchronicity of brain regions during the task. Regions of interest (ROI) were selected to explore functional connectivity in the DAN during cue-only conditions and in the VAN during invalid and valid trials. RESULTS: Behaviourally, the ASD and control groups performed the task in a similar manner. Functional MRI results indicated that the ASD and control groups activated similar brain regions. During invalid trials (VAN), the ASD group showed significant positive functional connectivity to multiple brain regions, whilst the control group demonstrated negative connectivity. During valid trials (VAN), the two groups also showed contrasting patterns of connectivity. In the cue-only conditions (DAN), the ASD group showed weaker functional connectivity. CONCLUSION: The DAN analysis suggests that the ASD group has weaker coherence between brain areas involved in goal-driven, endogenous attention control. The strong positive functional connectivity exhibited by the ASD group in the VAN during the invalid trials suggests that individuals with ASD may generate compensatory mechanisms to achieve neurotypical behaviour. These results support the theory of abnormal cortical connectivity in autism. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
8. George B, Padmam MS, Nair MK, Leena ML, Prasanna GL, Russell PS. {{CDC Kerala 11: Diagnosis of Autism Among Children Between 2 and 6 y – Comparison of CARS against DSM-IV-TR}}. {Indian J Pediatr}. 2014.
OBJECTIVES: To compare diagnosis of childhood autism using CARS cut off scores of >/=30 and the new Indian cut off scores of >/=33 against the gold standard DSM-IV-TR criteria available during the study period 2009-10. METHODS: The study was conducted at the autism clinic of Child Development centre (CDC), Kerala. Two hundred consecutive children between 2 and 6 y with symptoms suggestive of autism were administered both CARS by a trained developmental therapist and DSM-IV-TR by a developmental pediatrician on the same day, both blind to the test results of each other. Diagnosis of autism using CARS cut off scores 30 and above, as suggested in original tool administration manual and 33 and above, as suggested for diagnostic use in Indian population was compared with DSM-IV-TR diagnosis. Data was analyzed using SPSS (version 19.0) software. RESULTS: Against DSM-IV-TR diagnosis as gold standard, the new CARS cut off scores >/=33 had a higher Specificity (74.3 %), Positive predictive value (PPV) (81.9 %), Positive likelihood ratio (LR) (2.66) and Negative LR (0.43), but had a lower Sensitivity (68.3 %), Negative predictive value (NPV) (57.9 %) and accuracy (70.5 %), as compared to the cut off scores of >/=30. CONCLUSIONS: The CARS prevalence of autism for cut off points >/=30 and >/=33 was 71.5 and 52.5 % respectively against 63 % prevalence by DSM-IV-TR.
Lien vers le texte intégral (Open Access ou abonnement)
9. Globerson E, Amir N, Kishon-Rabin L, Golan O. {{Prosody Recognition in Adults With High-Functioning Autism Spectrum Disorders: From Psychoacoustics to Cognition}}. {Autism Res}. 2014.
Prosody is an important tool of human communication, carrying both affective and pragmatic messages in speech. Prosody recognition relies on processing of acoustic cues, such as the fundamental frequency of the voice signal, and their interpretation according to acquired socioemotional scripts. Individuals with autism spectrum disorders (ASD) show deficiencies in affective prosody recognition. These deficiencies have been mostly associated with general difficulties in emotion recognition. The current study explored an additional association between affective prosody recognition in ASD and auditory perceptual abilities. Twenty high-functioning male adults with ASD and 32 typically developing male adults, matched on age and verbal abilities undertook a battery of auditory tasks. These included affective and pragmatic prosody recognition tasks, two psychoacoustic tasks (pitch direction recognition and pitch discrimination), and a facial emotion recognition task, representing nonvocal emotion recognition. Compared with controls, the ASD group demonstrated poorer performance on both vocal and facial emotion recognition, but not on pragmatic prosody recognition or on any of the psychoacoustic tasks. Both groups showed strong associations between psychoacoustic abilities and prosody recognition, both affective and pragmatic, although these were more pronounced in the ASD group. Facial emotion recognition predicted vocal emotion recognition in the ASD group only. These findings suggest that auditory perceptual abilities, alongside general emotion recognition abilities, play a significant role in affective prosody recognition in ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
10. Han K, Chen H, Gennarino VA, Richman R, Lu HC, Zoghbi HY. {{Fragile X-like behaviors and abnormal cortical dendritic spines in Cytoplasmic FMR1 interacting protein 2 mutant mice}}. {Hum Mol Genet}. 2014.
Silencing of fragile X mental retardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disability and autistic behaviors. FMRP is an mRNA-binding protein regulating neuronal translation of target mRNAs. Abnormalities in actin-rich dendritic spines are major neuronal features in FXS, but the molecular mechanism and identity of FMRP targets mediating this phenotype remain largely unknown. Cytoplasmic FMR1 interacting protein 2 (Cyfip2) was identified as an interactor of FMRP, and its mRNA is a highly ranked FMRP target in mouse brain. Importantly, Cyfip2 is a component of WAVE regulatory complex, a key regulator of actin cytoskeleton, suggesting that Cyfip2 could be implicated in the dendritic spine phenotype of FXS. Here we generated and characterized Cyfip2 mutant (Cyfip2+/-) mice. We found that Cyfip2+/- mice exhibited behavioral phenotypes similar to Fmr1 null (Fmr1-/y) mice, an animal model of fragile X syndrome. Synaptic plasticity and dendritic spines were normal in Cyfip2+/- hippocampus. However, dendritic spines were altered in Cyfip2+/- cortex, and the dendritic spine phenotype of Fmr1-/y cortex was aggravated in Fmr1-/y;Cyfip2+/- double mutant mice. In addition to the spine changes at basal state, metabotropic glutamate receptor (mGluR)-induced dendritic spine regulation was impaired in both Fmr1-/y and Cyfip2+/- cortical neurons. Mechanistically, mGluR activation induced mRNA translation-dependent increase of Cyfip2 in wild-type cortical neurons, but not in Fmr1-/y or Cyfip2+/- neurons. These results suggest that misregulation of Cyfip2 function and its mGluR-induced expression contribute to the neurobehavioral phenotypes of FXS.
Lien vers le texte intégral (Open Access ou abonnement)
11. Huskens B, Palmen A, Van der Werff M, Lourens T, Barakova E. {{Improving Collaborative Play Between Children with Autism Spectrum Disorders and Their Siblings: The Effectiveness of a Robot-Mediated Intervention Based on Lego Therapy}}. {J Autism Dev Disord}. 2014.
The aim of the study was to investigate the effectiveness of a brief robot-mediated intervention based on Lego(R) therapy on improving collaborative behaviors (i.e., interaction initiations, responses, and play together) between children with ASD and their siblings during play sessions, in a therapeutic setting. A concurrent multiple baseline design across three child-sibling pairs was in effect. The robot-intervention resulted in no statistically significant changes in collaborative behaviors of the children with ASD. Despite limited effectiveness of the intervention, this study provides several practical implications and directions for future research.
Lien vers le texte intégral (Open Access ou abonnement)
12. Lunsky Y, Paquette-Smith M, Weiss JA, Lee J. {{Predictors of emergency service use in adolescents and adults with autism spectrum disorder living with family}}. {Emerg Med J}. 2014.
INTRODUCTION: The use of emergency services among adolescents and adults with autism spectrum disorder (ASD) transitioning into adult health services has not been well described. OBJECTIVES: To describe emergency service use including emergency departments (EDs), paramedics, and police involvement among adolescents and adults with ASD and to examine predictors of using emergency services. METHODS: Caregivers of 396 adolescents and adults with ASD were recruited through autism advocacy agencies and support programmes in Ontario to complete a survey about their child’s health service use. Surveys were completed online, by mail and over the phone between December 2010 and October 2012. Parents were asked to describe their child’s emergency service use and provide information about potential predictive factors including predisposing, enabling and clinical need variables. RESULTS: According to parents, 13% of their children with ASD used at least one emergency service in a 2-month period. Sedation or restraints were used 23% of the time. A combination of need and enabling variables predicted emergency service use with previous ED use in the last year (OR 3.4, 95% CI 1.7 to 6.8), a history of hurting others (OR 2.3, 95% 1.2 CI to 4.7) and having no structured daytime activities (OR 3.2, 95% CI 1.4 to 7.0) being the strongest multivariate predictors in the model. CONCLUSIONS: Patients with ASD and their families are likely to engage with paramedics or police or visit the ED. Further education and support to families and emergency clinicians are needed to improve and, when possible, prevent such occurrences.
Lien vers le texte intégral (Open Access ou abonnement)
13. Mamidala MP, Kalikiri MK, P TVP, Rajesh N, Vallamkonda OR, Rajesh V. {{Consanguinity in India and Its Association With Autism Spectrum Disorder}}. {Autism Res}. 2014.
Autism Spectrum Disorder (ASD) has both genetic and environmental factors in its etiology. The risk for many disorders is increased by consanguinity, but it is not known whether it increases the risk for ASD. Our study from large population in India concludes that consanguinity increases the risk for ASD with an odds ratio of 3.22. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
14. McPartland JC, Bernier R, South M. {{Realizing the Translational Promise of Psychophysiological Research in ASD}}. {J Autism Dev Disord}. 2014.
Lien vers le texte intégral (Open Access ou abonnement)
15. Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H. {{Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome}}. {Am J Med Genet A}. 2014.
This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. Cross-sectional data on 766 girls, aged 15 years and under, with genetically confirmed Rett syndrome was obtained from the Australian Rett Syndrome Database (ARSD) (n = 244) and the International Rett Syndrome Phenotype Database (InterRett) (n = 522). Relationships between MECP2 mutation type and age of regression in speech-language abilities, and the level of speech-language abilities before and after this regression were investigated. The females had a median age of 4.95 years in the ARSD and 5.25 years in InterRett. The majority (89%, 685/766) acquired speech-language abilities in the form of babble or words at some point in time. Of those who acquired babble or words, 85% (581/685) experienced a regression in these abilities. Those with a p.Arg133Cys mutation were the most likely to use one or more words, prior to (RRR = 3.45; 95% CI 1.15-10.41) and after (RRR = 5.99; 95% CI 2.00-17.92), speech-language regression. Girls with Rett syndrome vary in their use of speech and language, and in their experience of speech-language regression and these variations are partly explained by genotype. (c) 2014 Wiley Periodicals, Inc.
