1. Andrews J, Leonard H, Hammond GC, Girdler S, Rajapaksa R, Bathgate K, Downs J. {{Community participation for girls and women living with Rett syndrome}}. {Disabil Rehabil};2013 (Jul 25)
Abstract Objective: To describe the relationships between impairment and contextual factors and community participation for girls and women with Rett syndrome. Methods: Data was collected from a questionnaire completed in 2009 by families participating in the Australian Rett Syndrome Database (n = 214). Univariate and multivariate logistic regression were used to analyse relationships between impairment, personal and environmental factors and community participation. Results: The mean age of the girls and women was 17.6 years (SD = 7.95, range 3 to 34 years) with 114 (53.3%) girls still at school and 100 (46.7%) women post school. Frequency of activities was influenced by level of walking, community support and maternal education. For girls living at home, participation in activities was associated with greater functional independence and higher levels of maternal education. Participation in recreational (90.1%), physical/skill-based (67.6%) and/or social (70.3%) activities was commonly reported by families, while self-improvement (17.6%) activities were less reported. Younger girls participated in activities mainly with family members and older girls more frequently participated with carers. Conclusion: Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. There are also needs for the implementation of policies that ensure resources are available and accessible by those communities most in need. Implications for Rehabilitation Service providers need to ensure that families with less social advantage are able to access activities in the community. Families may need additional supports to access opportunities for participation as their daughter grows older. Carers in day centre and group home settings need access to training and resources to confirm and support their role in providing opportunities for participation for women with Rett syndrome.
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2. Clawson A, Clayson PE, South M, Bigler ED, Larson MJ. {{An Electrophysiological Investigation of Interhemispheric Transfer Time in Children and Adolescents with High-Functioning Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jul 26)
Little is known about the functional impact of putative deficits in white-matter connectivity across the corpus callosum (CC) in individuals with autism spectrum disorders (ASDs). We utilized the temporal sensitivity of event-related potentials to examine the interhemispheric transfer time (IHTT) of basic visual information across the CC in youth with high-functioning ASD relative to healthy controls. We conducted two experiments: a visual letter matching experiment (n = 46) and a visual picture matching experiment, (n = 48) and utilized both electrophysiological (N1 and P1 amplitudes and latencies) and behavioral [response times (RTs), error rates] indices of IHTT. There were no significant group differences on either experiment for RTs, error rates, or N1 and P1 latencies, suggesting that on basic tasks the timing of information flow across the CC may not be altered in high functioning ASD.
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3. Dadds MR, Macdonald E, Cauchi A, Williams K, Levy F, Brennan J. {{Nasal Oxytocin for Social Deficits in Childhood Autism: A Randomized Controlled Trial}}. {J Autism Dev Disord};2013 (Jul 26)
The last two decades have witnessed a surge in research investigating the application of oxytocin as a method of enhancing social behaviour in humans. Preliminary evidence suggests oxytocin may have potential as an intervention for autism. We evaluated a 5-day ‘live-in’ intervention using a double-blind randomized control trial. 38 male youths (7-16 years old) with autism spectrum disorders were administered 24 or 12 international units (depending on weight) intranasal placebo or oxytocin once daily over four consecutive days. The oxytocin or placebo was administered during parent-child interaction training sessions. Parent and child behaviours were assessed using parent reports, clinician ratings, and independent observations, at multiple time points to measure side-effects; social interaction skills; repetitive behaviours; emotion recognition and diagnostic status. Compared to placebo, intranasal oxytocin did not significantly improve emotion recognition, social interaction skills, or general behavioral adjustment in male youths with autism spectrum disorders. The results show that the benefits of nasal oxytocin for young individuals with autism spectrum disorders may be more circumscribed than suggested by previous studies, and suggest caution in recommending it as an intervention that is broadly effective.
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4. Deschamps PK, Coppes L, Kenemans JL, Schutter DJ, Matthys W. {{Electromyographic Responses to Emotional Facial Expressions in 6-7 Year Olds with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jul 26)
This study aimed to examine facial mimicry in 6-7 year old children with autism spectrum disorder (ASD) and to explore whether facial mimicry was related to the severity of impairment in social responsiveness. Facial electromyographic activity in response to angry, fearful, sad and happy facial expressions was recorded in twenty 6-7 year old children with ASD and twenty-seven typically developing children. Even though results did not show differences in facial mimicry between children with ASD and typically developing children, impairment in social responsiveness was significantly associated with reduced fear mimicry in children with ASD. These findings demonstrate normal mimicry in children with ASD as compared to healthy controls, but that in children with ASD the degree of impairments in social responsiveness may be associated with reduced sensitivity to distress signals.
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5. Meldrum SJ, Strunk T, Currie A, Prescott SL, Simmer K, Whitehouse AJ. {{Autism spectrum disorder in children born preterm-role of exposure to perinatal inflammation}}. {Front Neurosci};2013;7:123.
Autism Spectrum Disorder (ASD) is the collective term for neurodevelopmental disorders characterized by qualitative impairments in social interaction, communication, and a restricted range of activities and interests. Many countries, including Australia, have reported a dramatic increase in the number of diagnoses over the past three decades, with current prevalence of ASD at 1 in every 110 individuals (~1%). The potential role for an immune-mediated mechanism in ASD has been implicated by several studies, and some evidence suggests a potential link between prenatal infection-driven inflammation and subsequent development of ASD. Furthermore, a modest number of contemporary studies have reported a markedly increased prevalence of ASD in children born preterm, who are at highest risk of exposure to perinatal inflammation. However, the mechanisms that underpin the susceptibility to infection-driven inflammation during pregnancy and risk of preterm birth, and how these intersect with the subsequent development of ASD in the offspring, is not understood. This review aims to summarize and discuss the potential mechanisms and evidence for the role of prenatal infection on the central nervous system, and how it may increase the susceptibility for ASD pathogenesis in children born preterm.
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6. Poot M. {{Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders}}. {Mol Syndromol};2013 (Jun);4(5):213-226.
Recent genomic research into autism spectrum disorders (ASD) has revealed a remarkably complex genetic architecture. Large numbers of common variants, copy number variations and single nucleotide variants have been identified, yet each of them individually afforded only a small phenotypic impact. A polygenic model in which multiple genes interact either in an additive or a synergistic way appears the most plausible for the majority of ASD patients. Based on recently identified ASD candidate genes, transgenic mouse models for neuroligins/neurorexins and genes such as Cntnap2, Cntn5, Tsc1, Tsc2, Akt3, Cyfip1, Scn1a, En2, Slc6a4, and Bckdk have been generated and studied with respect to behavioral and neuroanatomical phenotypes and sensitivity to drug treatments. From these models, a few clues for potential pharmacologic intervention emerged. The Fmr1, Shank2 and Cntn5 knockout mice exhibited alterations of glutamate receptors, which may become a target for pharmacologic modulation. Some of the phenotypes of Mecp2 knockout mice can be ameliorated by administering IGF1. In the near future, comprehensive genotyping of individual patients and siblings combined with the novel insights generated from the transgenic animal studies may provide us with personalized treatment options. Eventually, autism may indeed turn out to be a phenotypically heterogeneous group of disorders (‘autisms’) caused by combinations of changes in multiple possible candidate genes, being different in each patient and requiring for each combination of mutations a distinct, individually tailored treatment.
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7. Redcay E, Rice K, Saxe R. {{Interaction versus observation: A finer look at this distinction and its importance to autism}}. {Behav Brain Sci};2013 (Aug);36(4):435.
Although a second-person neuroscience has high ecological validity, the extent to which a second- versus third-person neuroscience approach fundamentally alters neural patterns of activation requires more careful investigation. Nonetheless, we are hopeful that this new avenue will prove fruitful in significantly advancing our understanding of typical and atypical social cognition.
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8. Stephenson J, Limbrick L. {{A Review of the Use of Touch-Screen Mobile Devices by People with Developmental Disabilities}}. {J Autism Dev Disord};2013 (Jul 26)
This article presents a review of the research on the use of mobile touch-screen devices such as PDAs, iPod Touches, iPads and smart phones by people with developmental disabilities. Most of the research has been on very basic use of the devices as speech generating devices, as a means of providing video, pictorial and/or audio self-prompting and for leisure activities such as listening to music and watching videos. Most research studies were small-n designs that provided a preponderant level of research evidence. There is a clear need for more research with younger participants and with a much wider range of apps, including educational apps.
