1. {{Autism in siblings often caused by different faulty genes, study says}}. {Am J Med Genet A}. 2015; 167(5): ix.
Lien vers le texte intégral (Open Access ou abonnement)
2. Baykan A, Pamukcu O, Ozyurt A, Argun M, Onan SH, Sezer S, Uzum K, Narin N. {{Is it Safe to Close ASD with the Guidance of Transthoraxic Echocardiography in Pediatric Population « Ten Years’ Experience of a Single Center »}}. {J Interv Cardiol}. 2015; 28(2): 172-9.
OBJECTIVE: Main purpose of this study is to emphasize the usage and safety of transthoracic echocardiography (TTE) in percutaneous atrial septal defect (ASD) closure in appropriate pediatric cases. BACKGROUND: Nowadays, percutaneous closure is preferred as treatment modality for ASD in pediatric age group. METHODS: Between the dates December 2003-August 2013; 340 patients whose ASD were closed included in this study. Physical examination, electrocardiogram, TTE were done before the procedure, at the 24th hour, 1st and 6th month after the procedure. After the 6th month, routine control was done annually. Transesophageal echocardiography (TEE) was performed in 184 cases with large, multifenestrated ASD and when TTE views were poor in quality. We selected the 201 patients whose ASD diameter between 10-20 mm and formed 2 homogeneous groups according to the type of echocardiography used (TEE or TTE) in order to compare the role of echocardiography. RESULTS: The demographic features of patients of 2 groups were similar. There was not any statistically difference between ASD, balloon sizing diameters between the groups. No statistically significant difference in the success, complication, and residual shunt rates was found between the groups. Procedure, fluoroscopy time, and amount were significantly higher in TEE group. When hemodynamic variables except pulmonary blood flow to systemic blood flow (Qp/Qs; right-left atrium mean pressure, pulmonary vascular resistance, and peak-mean pulmonary arterial pressure) were compared, there was not statistically difference. CONCLUSION: TEE is an invasive procedure and requires general anesthesia, therefore, it should not be done routinely in ASD but only in selected cases. If the size and the anatomy of ASD is appropriate, TTE should be preferred primarily in percutaneous ASD closure.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bottema-Beutel K, Mullins TS, Harvey MN, Gustafson JR, Carter EW. {{Avoiding the « brick wall of awkward »: Perspectives of youth with autism spectrum disorder on social-focused intervention practices}}. {Autism}. 2015.
Many youth with autism spectrum disorder participate in school-based, peer-mediated intervention programs designed to improve their social experiences. However, there is little research discerning how these youth view intervention practices currently represented in the literature, information which could improve the social validity of intervention programming. In this mixed-methods study, we interviewed 33 youth with autism spectrum disorder about seven social-focused, peer-mediated intervention components. We asked participants to rate the favorability of each component to determine their degree of liking. Subsequently, we asked participants to give a rationale for their rating, in order to explore influencing factors. Chi-square tests indicated that high ratings were most prevalent for recruiting peers and family involvement and medium ratings were most prevalent for meeting with peers. Analyses of variance also indicated that preferences in the specific format intervention components were delivered. Several themes emerged from our qualitative analysis of open-ended responses, including the ramifications of adults in adolescent social life, the advantages of learning through shared activities with peers, and the effects of disclosing disability status. Our findings will offer guidance for researchers and practitioners interested in individualizing interventions to reflect student preferences. Furthermore, we document areas of concern for youth with autism spectrum disorder as they access school-based interventions.
Lien vers le texte intégral (Open Access ou abonnement)
4. Chen S, Li Z, He Y, Zhang F, Li H, Liao Y, Wei Z, Wan G, Xiang X, Hu M, Xia K, Chen X, Tang J. {{Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism}}. {BMC Psychiatry}. 2015; 15(1): 50.
BACKGROUND: Several lines of evidence indicate mitochondrial impairment in the pathophysiology of autism. As one of the most common biomarkers for mitochondrial dysfunction, mitochondrial DNA (mtDNA) copy number has also been linked to autism, but the relationship between mtDNA copy number and autism was still obscured. In this study, we performed a case-control study to investigate whether mtDNA copy number in peripheral blood cells is related to patients with autism. METHODS: Relative mtDNA copy number in peripheral blood cells was measured by using real-time polymerase chain reaction method. The participants in this study included 78 patients with childhood autism and 83 typically developing children. RESULTS: We observed children with autism had significantly elevated relative mtDNA copy number than healthy controls (Beta = -0.173, P = 0.0003). However, there were no significant correlations between mtDNA copy number and clinical features (paternal age, maternal age, age of onset, illness of duration, CARS score and ABC score) in childhood autism. CONCLUSION: We show that elevated mtDNA copy number in peripheral blood is associated with autism, indicating that there may be mitochondrial dysfunction in children with autism.
Lien vers le texte intégral (Open Access ou abonnement)
5. Hrdlicka M, Dudova I. {{Screening preterm children for autism at 2 years of age}}. {J Pediatr}. 2015.
Lien vers le texte intégral (Open Access ou abonnement)
6. Katz E, Girolametto L. {{Peer-mediated intervention for pre-schoolers with ASD: Effects on responses and initiations}}. {Int J Speech Lang Pathol}. 2015: 1-12.
PURPOSE: This study investigates the effects of peer-mediated intervention on the responses and initiations of pre-schoolers (aged 4;2-5;1) with Autism Spectrum Disorder (ASD). METHOD: A speech-language pathologist and three early childhood educators trained typically-developing peers to facilitate responses and initiations from three pre-schoolers with ASD during playtime. A multiple baseline design across subjects was used to determine the effects of the intervention. Play sessions between the children with ASD and their typically-developing peers were videotaped. Videotapes were analysed using an interval coding system in order to collect information regarding responses and initiations. RESULT: All three target children demonstrated improvements in their responses and initiations to their peers during intervention. Moreover, they maintained these gains 4 weeks later and generalized their response and initiation skills to an untrained peer. Social validity data, obtained using unbiased, independent, lay, observers to rate the children’s performance provided external validation of an observable treatment effect (i.e. increased responses and initiations) following intervention. CONCLUSION: The results suggest that training typically-developing peers to implement intervention strategies using the collaboration between a speech-language pathologist and early childhood educators may be an effective model of service delivery to enhance peer interaction skills of pre-schoolers with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
7. Kozol RA, Cukier HN, Zou B, Mayo V, De Rubeis S, Cai G, Griswold AJ, Whitehead PL, Haines JL, Gilbert JR, Cuccaro ML, Martin ER, Baker JD, Buxbaum JD, Pericak-Vance MA, Dallman JE. {{Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis}}. {Hum Mol Genet}. 2015.
Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1-2% of children and adults, and is characterized by deficits in verbal and non-verbal communication, and social interactions, as well as the presence of repetitive behaviors and/or stereotyped interests. ASD is clinically and etiologically heterogeneous, with a strong genetic component. Here, we present functional data from syngap1 and shank3 zebrafish loss-of-function models of ASD. SYNGAP1, a synaptic Ras GTPase activating protein, and SHANK3, a synaptic scaffolding protein, were chosen because of mounting evidence that haploinsufficiency in these genes is highly penetrant for ASD and intellectual disability (ID). Orthologs of both SYNGAP1 and SHANK3 are duplicated in the zebrafish genome and we find that all four transcripts (syngap1a, syngap1b, shank3a and shank3b) are expressed at the earliest stages of nervous system development with pronounced expression in the larval brain. Consistent with early expression of these genes, knockdown of syngap1b or shank3a cause common embryonic phenotypes including delayed mid- and hindbrain development, disruptions in motor behaviors that manifest as unproductive swim attempts, and spontaneous, seizure-like behaviors. Our findings indicate that both syngap1b and shank3a play novel roles in morphogenesis resulting in common brain and behavioral phenotypes.
Lien vers le texte intégral (Open Access ou abonnement)
8. Lokanga RA, Senejani AG, Sweasy JB, Usdin K. {{Heterozygosity for a Hypomorphic Polbeta Mutation Reduces the Expansion Frequency in a Mouse Model of the Fragile X-Related Disorders}}. {PLoS Genet}. 2015; 11(4): e1005181.
The Fragile X-related disorders (FXDs) are members of the Repeat Expansion Diseases, a group of human genetic conditions resulting from expansion of a specific tandem repeat. The FXDs result from expansion of a CGG/CCG repeat tract in the 5′ UTR of the FMR1 gene. While expansion in a FXD mouse model is known to require some mismatch repair (MMR) proteins, our previous work and work in mouse models of another Repeat Expansion Disease show that early events in the base excision repair (BER) pathway play a role in the expansion process. One model for repeat expansion proposes that a non-canonical MMR process makes use of the nicks generated early in BER to load the MMR machinery that then generates expansions. However, we show here that heterozygosity for a Y265C mutation in Polbeta, a key polymerase in the BER pathway, is enough to significantly reduce both the number of expansions seen in paternal gametes and the extent of somatic expansion in some tissues of the FXD mouse. These data suggest that events in the BER pathway downstream of the generation of nicks are also important for repeat expansion. Somewhat surprisingly, while the number of expansions is smaller, the average size of the residual expansions is larger than that seen in WT animals. This may have interesting implications for the mechanism by which BER generates expansions.
Lien vers le texte intégral (Open Access ou abonnement)
9. Nicolaidis C, Raymaker DM, Ashkenazy E, McDonald KE, Dern S, Baggs AE, Kapp SK, Weiner M, Boisclair WC. {{« Respect the way I need to communicate with you »: Healthcare experiences of adults on the autism spectrum}}. {Autism}. 2015.
Our objective was to obtain an in-depth understanding of autistic adults’ experiences with healthcare and their recommendations for improving care. Our academic-community partnership used a community-based participatory research approach to conduct semi-structured, open-ended interviews with 39 autistic adults and 16 people who had experience supporting autistic adults in healthcare settings. Participants identified patient-level, autism-related factors that impact healthcare interactions, including verbal communication skills, sensory sensitivities, challenges with body awareness, slow processing speed, atypical non-verbal communication, and challenges with organization. However, the success of healthcare interactions largely depended on the interplay between patient- and provider-level factors, as well as the larger context in which patients were receiving care. Provider-level factors included providers’ knowledge about autism in adults, incorrect assumptions about individual patients, willingness to allow written communication, use of accessible language, openness to providing other accommodations, and skill in appropriately incorporating supporters. System-level factors included the availability of supporters, complexity of the healthcare system, accessibility of healthcare facilities, and stigma about autism. Further efforts are needed to empower patients, adequately train providers, increase the accessibility of the healthcare system, and decrease discrimination.
Lien vers le texte intégral (Open Access ou abonnement)
10. Saiano M, Pellegrino L, Casadio M, Summa S, Garbarino E, Rossi V, Dall’Agata D, Sanguineti V. {{Natural interfaces and virtual environments for the acquisition of street crossing and path following skills in adults with Autism Spectrum Disorders: a feasibility study}}. {J Neuroeng Rehabil}. 2015; 12(1): 17.
BACKGROUND: Lack of social skills and/or a reduced ability to determine when to use them are common symptoms of Autism Spectrum Disorder (ASD). Here we examine whether an integrated approach based on virtual environments and natural interfaces is effective in teaching safety skills in adults with ASD. We specifically focus on pedestrian skills, namely street crossing with or without traffic lights, and following road signs. METHODS: Seven adults with ASD explored a virtual environment (VE) representing a city (buildings, sidewalks, streets, squares), which was continuously displayed on a wide screen. A markerless motion capture device recorded the subjects’ movements, which were translated into control commands for the VE according to a predefined vocabulary of gestures. The treatment protocol consisted of ten 45-minutes sessions (1 session/week). During a familiarization phase, the participants practiced the vocabulary of gestures. In a subsequent training phase, participants had to follow road signs (to either a police station or a pharmacy) and to cross streets with and without traffic lights. We assessed the performance in both street crossing (number and type of errors) and navigation (walking speed, path length and ability to turn without stopping). To assess their understanding of the practiced skill, before and after treatment subjects had to answer a test questionnaire. To assess transfer of the learned skill to real-life situations, another specific questionnaire was separately administered to both parents/legal guardians and the subjects’ personal caregivers. RESULTS: One subject did not complete the familiarization phase because of problems with depth perception. The six subjects who completed the protocol easily learned the simple body gestures required to interact with the VE. Over sessions they significantly improved their navigation performance, but did not significantly reduce the errors made in street crossing. In the test questionnaire they exhibited no significant reduction in the number of errors. However, both parents and caregivers reported a significant improvement in the subjects’ street crossing performance. Their answers were also highly consistent, thus pointing at a significant transfer to real-life behaviors. CONCLUSIONS: Rehabilitation of adults with ASD mainly focuses on educational interventions that have an impact in their quality of life, which includes safety skills. Our results confirm that interaction with VEs may be effective in facilitating the acquisition of these skills.
Lien vers le texte intégral (Open Access ou abonnement)
11. Zapf AC, Glindemann LA, Vogeley K, Falter CM. {{Sex Differences in Mental Rotation and How They Add to the Understanding of Autism}}. {PLoS One}. 2015; 10(4): e0124628.
The most consistent cognitive sex differences have been found in the visuo-spatial domain, using Mental Rotation (MR) tasks. Such sex differences have been suggested to bear implications on our understanding of autism spectrum disorders (ASD). However, it is still debated how the sex difference in MR performance relates to differences between individuals with ASD compared to typically developed control persons (TD). To provide a detailed exploration of sex differences in MR performance, we studied rotational (indicated by slopes) and non-rotational aspects (indicated by intercepts) of the MR task in TD individuals (total N = 50). Second-to-fourth digit length ratios (2D:4D) were measured to investigate the associations between prenatal testosterone and performance on MR tasks. Handedness was assessed by the use of the Edinburgh Handedness Inventory in order to examine the relation between handedness and MR performance. In addition, we investigated the relation of spatial to systemising abilities, both of which have been associated with sex differences and with ASD, employing the Intuitive Physics Test (IPT). Results showed a male advantage in rotational aspects of the MR task, which correlated with IPT results. These findings are in contrast to the MR performance of individuals with ASD who have been shown to outperform TD persons in the non-rotational aspects of the MR task. These results suggest that the differences in MR performance due to ASD are different from sex-related differences in TD persons, in other words, ASD is not a simple and continuous extension of the male cognitive profile into the psychopathological range as the extreme male brain hypothesis (EMB) of ASD would suggest.
