1. Brooks J, Kellett J, Seeanner J, Jenkins C, Buchanan C, Kinsman A, Kelly D, Pierce S. {{Training the Motor Aspects of Pre-driving Skills of Young Adults With and Without Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Apr 7)
The purpose of this study was to investigate the utility of using a driving simulator to address the motor aspects of pre-driving skills with young adults with Autism Spectrum Disorder (ASD). A group of neurotypical control participants and ten participants with ASD completed 18 interactive steering and pedal exercises with the goal to achieve error-free performance. Most participants were able to achieve this goal within five trials for all exercises except for the two most difficult ones. Minimal performance differences were observed between the two groups. Participants with ASD needed more time to complete the tasks. Overall, the interactive exercises and the process used worked well to address motor related aspects of pre-driving skills in young adults with ASD.
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2. Huang W, Luo SY, Du Q, Yang P, Tan H, Wu LQ, Duan RH. {{[Tissue heterogeneity analysis of CGG-repeat mutation in two fragile X affected male fetuses]}}. {Zhonghua Er Ke Za Zhi};2016 (Apr);54(4):287-289.
OBJECTIVE: To compare the CGG-repeat-length and its methylation status in fetal tissues and to explicate the heterogeneity of CGG repeats. METHOD: Multiple tissues from a full mutation(August 2013) and a mosaic aborted fetus of 23-week gestation(May 2012) were collected and genomic DNA from these tissues was extracted. The CGG-repeat-length and methylation status in fetal tissues were determined by a combined strategy of Southern blotting and GC-Rich PCR. FMR1 expression was measured by real time PCR and Western blotting. RESULT: CGG-repeat-length in different tissues of each fetus was similar.A major methylated band in the full mutation range (540 CGG repeats) was detected in the brain, skin, testis and kidney tissues of Case 1. An unmethylated premutation band with 160 CGG repeats, and another two bands with 470 and 1 100 CGG repeats in the full mutation range were shown in the brain, skin, testis, lung, stomach, gut, liver, kidney, heart and blood of Case 2. However, the methylation status of CGG repeats in the mosaic fetus was heterogeneous among different tissues. The lowest premutation ratio was in the brain of the mosaic fetus compared with other tissues, and correspondingly FMR1 expression in its brain was minimum. CONCLUSION: This study clarify the tissue heterogeneity of CGG repeats and provides information for the genetic counseling and clinical diagnosis in fragile X syndrome. Based on the fact that the mosaic fetus’ mother is a carrier of full mutation, it is speculated that the maternal CGG repeat has contracted before the differentiation of trilaminar germ disc.
3. Ishizuka K, Kimura H, Wang C, Xing J, Kushima I, Arioka Y, Oya-Ito T, Uno Y, Okada T, Mori D, Aleksic B, Ozaki N. {{Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders}}. {PLoS One};2016;11(4):e0153224.
Both schizophrenia (SCZ) and autism spectrum disorders (ASD) are neuropsychiatric disorders with overlapping genetic etiology. Protocadherin 15 (PCDH15), which encodes a member of the cadherin super family that contributes to neural development and function, has been cited as a risk gene for neuropsychiatric disorders. Recently, rare variants of large effect have been paid attention to understand the etiopathology of these complex disorders. Thus, we evaluated the impacts of rare, single-nucleotide variants (SNVs) in PCDH15 on SCZ or ASD. First, we conducted coding exon-targeted resequencing of PCDH15 with next-generation sequencing technology in 562 Japanese patients (370 SCZ and 192 ASD) and detected 16 heterozygous SNVs. We then performed association analyses on 2,096 cases (1,714 SCZ and 382 ASD) and 1,917 controls with six novel variants of these 16 SNVs. Of these six variants, four (p.R219K, p.T281A, p.D642N, c.3010-1G>C) were ultra-rare variants (minor allele frequency < 0.0005) that may increase disease susceptibility. Finally, no statistically significant association between any of these rare, heterozygous PCDH15 point variants and SCZ or ASD was found. Our results suggest that a larger sample size of resequencing subjects is necessary to detect associations between rare PCDH15 variants and neuropsychiatric disorders. Lien vers le texte intégral (Open Access ou abonnement)
4. Lopata C, Lipinski AM, Thomeer ML, Rodgers JD, Donnelly JP, McDonald CA, Volker MA. {{Open-trial pilot study of a comprehensive outpatient psychosocial treatment for children with high-functioning autism spectrum disorder}}. {Autism};2016 (Apr 7)
This study examined the feasibility and initial outcomes of a comprehensive outpatient psychosocial treatment (MAXout) for children aged 7-12 years with high-functioning autism spectrum disorder. The 18-week treatment, two 90-minute sessions per week, included instruction and therapeutic activities targeting social/social communication skills, facial emotion recognition, non-literal language skills, and interest expansion. A behavioral system was implemented to reduce autism spectrum disorder symptoms and problem behaviors and increase skills acquisition and maintenance. Feasibility was supported via high levels of treatment fidelity and parent, child, and staff satisfaction. Significant post-treatment improvements were found for the children’s non-literal language skills and facial emotion recognition skills, and parent and staff clinician ratings of targeted social/social communication skills, broad social skills, autism spectrum disorder symptoms, and problem behaviors. Results suggested that MAXout was feasible and may yield positive outcomes for children with high-functioning autism spectrum disorder.
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5. Mulhern T, Lydon S, Healy O, Mollaghan G, Ramey D, Leoni M. {{A systematic review and evaluation of procedures for the induction of speech among persons with developmental disabilities}}. {Dev Neurorehabil};2016 (Apr 8):1-21.
OBJECTIVE: Deficits in vocal speech are common among those with developmental disabilities. This review examines interventions for teaching speech to individuals who presented as nonspeaking, or with low levels of vocalizations at baseline, and assesses evidence-based practice in this area. METHODS: Systematic searches identified 78 studies suitable for inclusion. These studies were evaluated in terms of (a) participants, (b) intervention, (c) intervention setting, (d) intervention agent, (e) treatment efficacy, (f) generalization and maintenance of treatment effects, and (g) research rigor. RESULTS: A variety of interventions, primarily behavioral, intended to induce vocal speech were delivered to participants with developmental disabilities aged between six months and 57 years. Treatment efficacy was variable (PND M = 52.9%; range 0%-100%); however, results indicated that behavioral interventions constituted evidence-based practice. Non-behavioral strategies were shown to have received insufficient research evaluation to date. CONCLUSION: Results indicate that a number of procedures can induce speech among individuals with developmental disabilities.
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6. Mundy P, Kim K, McIntyre N, Lerro L, Jarrold W. {{Brief Report: Joint Attention and Information Processing in Children with Higher Functioning Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Apr 9)
Theory suggests that information processing during joint attention may be atypical in children with Autism Spectrum Disorder (ASD). This hypothesis was tested in a study of school-aged children with higher functioning ASD and groups of children with symptoms of ADHD or typical development. The results indicated that the control groups displayed significantly better recognition memory for pictures studied in an initiating joint attention (IJA) rather than responding to joint attention (RJA) condition. This effect was not evident in the ASD group. The ASD group also recognized fewer pictures from the IJA condition than controls, but not the RJA condition. Atypical information processing may be a marker of the continued effects of joint attention disturbance in school aged children with ASD.
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7. Neuhaus E, Jones EJ, Barnes K, Sterling L, Estes A, Munson J, Dawson G, Webb SJ. {{The Relationship Between Early Neural Responses to Emotional Faces at Age 3 and Later Autism and Anxiety Symptoms in Adolescents with Autism}}. {J Autism Dev Disord};2016 (Apr 7)
Both autism spectrum (ASD) and anxiety disorders are associated with atypical neural and attentional responses to emotional faces, differing in affective face processing from typically developing peers. Within a longitudinal study of children with ASD (23 male, 3 female), we hypothesized that early ERPs to emotional faces would predict concurrent and later ASD and anxiety symptoms. Greater response amplitude to fearful faces corresponded to greater social communication difficulties at age 3, and less improvement by age 14. Faster ERPs to neutral faces predicted greater ASD symptom improvement over time, lower ASD severity in adolescence, and lower anxiety in adolescence. Early individual differences in processing of emotional stimuli likely reflect a unique predictive contribution from social brain circuitry early in life.
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8. Pan CY, Chu CH, Tsai CL, Sung MC, Huang CY, Ma WY. {{The impacts of physical activity intervention on physical and cognitive outcomes in children with autism spectrum disorder}}. {Autism};2016 (Apr 7)
This study examined the effects of a 12-week physical activity intervention on the motor skill proficiency and executive function of 22 boys (aged 9.08 +/- 1.75 years) with autism spectrum disorder. In Phase I of the 12 weeks, 11 boys with autism spectrum disorder (Group A) received the intervention, whereas the other 11 boys with autism spectrum disorder (Group B) did not (true control, no intervention). The arrangement was reversed in Phase II, which lasted an additional 12 weeks. The Bruininks-Oseretsky Test of Motor Proficiency, Second Edition, and the Wisconsin Card Sorting Test were conducted three times for each participant (Group A, primary grouping: baseline (T1), post-assessment (T2), and follow-up assessment (T3); Group B, control grouping: T1-T2; intervention condition, T2-T3). The main findings were that both groups of children with autism spectrum disorder significantly exhibited improvements in motor skill proficiency (the total motor composite and two motor-area composites) and executive function (three indices of the Wisconsin Card Sorting Test) after 12 weeks of physical activity intervention. In addition, the effectiveness appeared to have been sustained for at least 12 weeks in Group A. The findings provide supporting evidence that physical activity interventions involving table tennis training may be a viable therapeutic option for treating children with autism spectrum disorder.
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9. Pellerin D, Caku A, Fradet M, Bouvier P, Dube J, Corbin F. {{Lovastatin corrects ERK pathway hyperactivation in fragile X syndrome: potential of platelet’s signaling cascades as new outcome measures in clinical trials}}. {Biomarkers};2016 (Apr 8):1-12.
AIM: To establish whether platelets from fragile X syndrome (FXS) individuals recapitulate FXS mouse neurons’ defects in ERK and Akt pathways, and to evaluate the effect of lovastatin on these pathways. METHODS: ERK and Akt phosphorylation (pERK, pAkt) statuses were assessed with quantitative Western blotting before and after a 12-week lovastatin trial. RESULTS: Levels of pERK and pAkt were increased in FXS platelets, and lovastatin specifically normalized ERK activity. Changes in ERK phosphorylation were correlated with clinical response to lovastatin. CONCLUSIONS: Platelets’ signaling pathways provide biomarkers that can be used as treatment outcome measures in FXS clinical trials.
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10. Salomone E, Maurizio Arduino G. {{Parental attitudes to a telehealth parent coaching for autism spectrum disorder}}. {J Telemed Telecare};2016 (Apr 6)
INTRODUCTION: This study examined the potential feasibility of tele-delivered parent coaching in a rural area of Italy through a survey of parents’ attitudes towards this type of intervention. METHODS: Parents of all children up to six years of age registered with a diagnosis of autism spectrum disorder at the clinic catering for the area were invited to take part in the study. The final sample consisted of 43 parents. RESULTS: Parents with worse Internet skills and those who reported lower levels of satisfaction with currently received services were less likely to be willing to enrol. There was a trend for parents with lower self-efficacy to be less likely to enrol. Educational level, previous experience of video-calling, travel time to the clinic and child’s level of ability were not associated with the choice of enrolment. DISCUSSION: Implications for strategies to contrast barriers to adoption and strengthen implementation plans are discussed.
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11. Simonstein F, Mashiach-Eizenberg M. {{Non-life threatening disorders (NLTDs): attitudes toward Autistic Spectrum Disorders (ASDs) among students of allied health professions}}. {Public Health};2016 (Apr 4)
