1. {{Erratum Re: Relationship Between Neonatal Vitamin D at Birth and Risk of Autism Spectrum Disorders: the NBSIB Study}}. {J Bone Miner Res}. 2018; 33(3): 550.
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2. Bhatt P, Patel A, Kumar V, Lekshminarayanan A, Patel V, Alapati S, Billimoria ZC. {{Impact of hospital volume on outcomes of percutaneous ASD/PFO closure in pediatric patients}}. {World journal of pediatrics : WJP}. 2018.
BACKGROUND: We investigated the effect of hospital volume on percutaneous closure of atrial septal defect/patent foramen ovale (ASD) among pediatric patients. METHODS: We identified patients undergoing percutaneous closure of ASD with device using International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) procedure code 35.52 from the National Inpatient Sample, years 2002-2011. Patients with age Lien vers le texte intégral (Open Access ou abonnement)
3. Boone KM, Gracious B, Klebanoff M, Rogers LK, Rausch J, Coury DL, Keim SA. {{Corrigendum to « Omega-3 and -6 fatty acid supplementation and sensory processing in toddlers with ASD symptomology born preterm: A randomized controlled trial » [Early Hum. Dev. 115 (2017) 64-70]}}. {Early human development}. 2018.
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4. Cai Y, Tang X, Chen X, Li X, Wang Y, Bao X, Wang L, Sun D, Zhao J, Xing Y, Warner M, Xu H, Gustafsson JA, Fan X. {{Liver X receptor beta regulates the development of the dentate gyrus and autistic-like behavior in the mouse}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018.
The dentate gyrus (DG) of the hippocampus is a laminated brain region in which neurogenesis begins during early embryonic development and continues until adulthood. Recent studies have implicated that defects in the neurogenesis of the DG seem to be involved in the genesis of autism spectrum disorders (ASD)-like behaviors. Liver X receptor beta (LXRbeta) has recently emerged as an important transcription factor involved in the development of laminated CNS structures, but little is known about its role in the development of the DG. Here, we show that deletion of the LXRbeta in mice causes hypoplasia in the DG, including abnormalities in the formation of progenitor cells and granule cell differentiation. We also found that expression of Notch1, a central mediator of progenitor cell self-renewal, is reduced in LXRbeta-null mice. In addition, LXRbeta deletion in mice results in autistic-like behaviors, including abnormal social interaction and repetitive behavior. These data reveal a central role for LXRbeta in orchestrating the timely differentiation of neural progenitor cells within the DG, thereby providing a likely explanation for its association with the genesis of autism-related behaviors in LXRbeta-deficient mice.
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5. Chenausky KV, Schlaug G. {{From intuition to intervention: developing an intonation-based treatment for autism}}. {Ann N Y Acad Sci}. 2018.
Autism affects approximately 1.5% of children under age 8; its core symptoms include impairment in social-communicative functioning and repetitive behaviors/restricted interests. Music-based interventions have been considered one modality through which to treat autism. This report discusses considerations to take into account when developing a music-based intervention for a core symptom of autism. Treatment modality must be matched to symptom both clinically and theoretically, the behavior to be treated must be carefully defined and assessed, and outcome measures must be capable of showing improvement in that behavior over the course of the study. Fidelity assessment and rater blinding reduce experimenter bias. High inter-rater reliability for perceptually determined outcome measures helps obtain accurate estimates of treatment response. Later stages of testing compare the experimental intervention to matched control treatments or other validated therapies, isolating the intervention’s « active ingredients. » Such systematic investigation of a new music-based intervention can provide information of different types, ranging from an assessment of whether the intervention has any effect at all to an assessment of its outcomes and risks in uncontrolled community settings. Findings ultimately compose the evidence base that clinicians and families can use to decide the most effective way of addressing symptoms of autism for particular children.
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6. Dixon MR, Wiggins SH, Belisle J. {{The effectiveness of the peak relational training system and corresponding changes on the VB-MAPP for young adults with autism}}. {Journal of applied behavior analysis}. 2018.
The current investigation sought to extend prior research evaluating the use of the PEAK Relational Training System as a comprehensive treatment model in improving language skills demonstrated by individuals with autism. Baseline PEAK-Direct Training and Verbal Behavior Milestone Assessment and Placement Program (VB-MAPP) assessments were conducted across 3 adult male participants, and scores on the PEAK-Direct Training assessment were used to select targets for intervention. Language instruction guided by the PEAK-Direct Training module was implemented for 45 to 69 days across participants. Results suggest that participants mastered target skills throughout the training phase, and VB-MAPP test probes showed an increasing trend. Follow-up probes suggested that scores on the VB-MAPP maintained when training was discontinued. In addition, participants demonstrated an increase in assessment scores on the PEAK-Direct Training assessment in the follow-up phase, including the mastery of untargeted verbal skills.
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7. Duda M, Zhang H, Li HD, Wall DP, Burmeister M, Guan Y. {{Brain-specific functional relationship networks inform autism spectrum disorder gene prediction}}. {Translational psychiatry}. 2018; 8(1): 56.
Autism spectrum disorder (ASD) is a neuropsychiatric disorder with strong evidence of genetic contribution, and increased research efforts have resulted in an ever-growing list of ASD candidate genes. However, only a fraction of the hundreds of nominated ASD-related genes have identified de novo or transmitted loss of function (LOF) mutations that can be directly attributed to the disorder. For this reason, a means of prioritizing candidate genes for ASD would help filter out false-positive results and allow researchers to focus on genes that are more likely to be causative. Here we constructed a machine learning model by leveraging a brain-specific functional relationship network (FRN) of genes to produce a genome-wide ranking of ASD risk genes. We rigorously validated our gene ranking using results from two independent sequencing experiments, together representing over 5000 simplex and multiplex ASD families. Finally, through functional enrichment analysis on our highly prioritized candidate gene network, we identified a small number of pathways that are key in early neural development, providing further support for their potential role in ASD.
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8. Filice F, Lauber E, Vorckel KJ, Wohr M, Schwaller B. {{17-beta estradiol increases parvalbumin levels in Pvalb heterozygous mice and attenuates behavioral phenotypes with relevance to autism core symptoms}}. {Mol Autism}. 2018; 9: 15.
Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by two core symptoms: impaired social interaction and communication, and restricted, repetitive behaviors and interests. The pathophysiology of ASD is not yet fully understood, due to a plethora of genetic and environmental risk factors that might be associated with or causal for ASD. Recent findings suggest that one putative convergent pathway for some forms of ASD might be the downregulation of the calcium-binding protein parvalbumin (PV). PV-deficient mice (PV-/-, PV+/-), as well as Shank1-/-, Shank3-/-, and VPA mice, which show behavioral deficits relevant to all human ASD core symptoms, are all characterized by lower PV expression levels. Methods: Based on the hypothesis that PV expression might be increased by 17-beta estradiol (E2), PV+/- mice were treated with E2 from postnatal days 5-15 and ASD-related behavior was tested between postnatal days 25 and 31. Results: PV expression levels were significantly increased after E2 treatment and, concomitantly, sociability deficits in PV+/- mice in the direct reciprocal social interaction and the 3-chamber social approach assay, as well as repetitive behaviors, were attenuated. E2 treatment of PV+/+ mice did not increase PV levels and had detrimental effects on sociability and repetitive behavior. In PV-/- mice, E2 obviously did not affect PV levels; tested behaviors were not different from the ones in vehicle-treated PV-/- mice. Conclusion: Our results suggest that the E2-linked amelioration of ASD-like behaviors is specifically occurring in PV+/- mice, indicating that PV upregulation is required for the E2-mediated rescue of ASD-relevant behavioral impairments.
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9. Frampton SE, Alice Shillingsburg M. {{Teaching children with autism to explain how: A case for problem solving?}}. {Journal of applied behavior analysis}. 2018.
Few studies have applied Skinner’s (1953) conceptualization of problem solving to teach socially significant behaviors to individuals with developmental disabilities. The current study used a multiple probe design across behavior (sets) to evaluate the effects of problem-solving strategy training (PSST) on the target behavior of explaining how to complete familiar activities. During baseline, none of the three participants with autism spectrum disorder (ASD) could respond to the problems presented to them (i.e., explain how to do the activities). Tact training of the actions in each activity alone was ineffective; however, all participants demonstrated independent explaining-how following PSST. Further, following PSST with Set 1, tact training alone was sufficient for at least one scenario in sets 2 and 3 for all 3 participants. Results have implications for generative responding for individuals with ASD and further the discussion regarding the role of problem solving in complex verbal behavior.
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10. Harbison AL, Woynaroski TG, Tapp J, Wade JW, Warlaumont AS, Yoder PJ. {{A new measure of child vocal reciprocity in children with autism spectrum disorder}}. {Autism Res}. 2018.
Children’s vocal development occurs in the context of reciprocal exchanges with a communication partner who models « speechlike » productions. We propose a new measure of child vocal reciprocity, which we define as the degree to which an adult vocal response increases the probability of an immediately following child vocal response. Vocal reciprocity is likely to be associated with the speechlikeness of vocal communication in young children with autism spectrum disorder (ASD). Two studies were conducted to test the utility of the new measure. The first used simulated vocal samples with randomly sequenced child and adult vocalizations to test the accuracy of the proposed index of child vocal reciprocity. The second was an empirical study of 21 children with ASD who were preverbal or in the early stages of language development. Daylong vocal samples collected in the natural environment were computer analyzed to derive the proposed index of child vocal reciprocity, which was highly stable when derived from two daylong vocal samples and was associated with speechlikeness of vocal communication. This association was significant even when controlling for chance probability of child vocalizations to adult vocal responses, probability of adult vocalizations, or probability of child vocalizations. A valid measure of children’s vocal reciprocity might eventually improve our ability to predict which children are on track to develop useful speech and/or are most likely to respond to language intervention. A link to a free, publicly-available software program to derive the new measure of child vocal reciprocity is provided. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Children and adults often engage in back-and-forth vocal exchanges. The extent to which they do so is believed to support children’s early speech and language development. Two studies tested a new measure of child vocal reciprocity using computer-generated and real-life vocal samples of young children with autism collected in natural settings. The results provide initial evidence of accuracy, test-retest reliability, and validity of the new measure of child vocal reciprocity. A sound measure of children’s vocal reciprocity might improve our ability to predict which children are on track to develop useful speech and/or are most likely to respond to language intervention. A free, publicly-available software program and manuals are provided.
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11. Hardiman RL, McGill P. {{How common are challenging behaviours amongst individuals with Fragile X Syndrome? A systematic review}}. {Res Dev Disabil}. 2018.
Fragile X Syndrome (FXS) appears to be associated with an increased risk for engaging in challenging behaviour, particularly self-injury, relative to those with mixed aetiology learning disabilities. Such behavioural issues are reported to be of high concern for those providing support. As such, this systematic review aimed to gain further epidemiological data regarding challenging behaviours in individuals with FXS, including: self-injurious behaviour (SIB), hand-biting as a specific topography of SIB, aggression and property destruction. Twenty eight manuscripts were identified which reported the prevalence of a relevant topography of behaviour, with widely varying prevalence estimates. Weighted averages of the prevalence of behaviours were calculated across studies. Comparison of proportions revealed significant gender differences and differences in the prevalence of types of behaviour. It is hoped that this comprehensive overview of data on this clinically significant topic will help to inform and drive future investigation to understand and provide effective intervention for the benefit of those with FXS.
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12. Hirsch MM, Deckmann I, Fontes-Dutra M, Bauer-Negrini G, Della-Flora Nunes G, Nunes W, Rabelo B, Riesgo R, Margis R, Bambini-Junior V, Gottfried C. {{Behavioral alterations in autism model induced by valproic acid and translational analysis of circulating microRNA}}. {Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association}. 2018.
Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication and language, and restricted repertoire of activities and interests. The etiology of ASD remains unknown and no clinical markers for diagnosis were identified. Environmental factors, including prenatal exposure to valproic acid (VPA), may contribute to increased risk of developing ASD. MicroRNA (miRNA) are small noncoding RNA that regulate gene expression and are frequently linked to biological processes affected in neurodevelopmental disorders. In this work, we analyzed the effects of resveratrol (an antioxidant and anti-inflammatory molecule) on behavioral alterations of the VPA model of autism, as well as the levels of circulating miRNA. We also evaluated the same set of miRNA in autistic patients. Rats of the VPA model of autism showed reduced total reciprocal social interaction, prevented by prenatal treatment with resveratrol (RSV). The levels of miR134-5p and miR138-5p increased in autistic patients. Interestingly, miR134-5p is also upregulated in animals of the VPA model, which is prevented by RSV. In conclusion, our findings revealed important preventive actions of RSV in the VPA model, ranging from behavior to molecular alterations. Further evaluation of preventive mechanisms of RSV can shed light in important biomarkers and etiological triggers of ASD.
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13. Rex C, Charlop MH, Spector V. {{Using Video Modeling as an Anti-bullying Intervention for Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
In the present study, we used a multiple baseline design across participants to assess the efficacy of a video modeling intervention to teach six children with autism spectrum disorder (ASD) to assertively respond to bullying. During baseline, the children made few appropriate responses upon viewing video clips of bullying scenarios. During the video modeling intervention, participants viewed videos of models assertively responding to three types of bullying: physical, verbal bullying, and social exclusion. Results indicated that all six children learned through video modeling to make appropriate assertive responses to bullying scenarios. Four of the six children demonstrated learning in the in situ bullying probes. The results are discussed in terms of an intervention for victims of bullying with ASD.
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14. Siller M, Hotez E, Swanson M, Delavenne A, Hutman T, Sigman M. {{Parent coaching increases the parents’ capacity for reflection and self-evaluation: results from a clinical trial in autism}}. {Attachment & human development}. 2018: 1-22.
Family-centered parent coaching interventions in autism strive to encourage family engagement and support parent reflection and self-evaluation. This includes the parents’ capacity to: (1) carefully observe the child’s behavior; (2) reflect upon the child’s thoughts, motives, and feelings; (3) consider links between the child’s internal experiences and observable behavior; and (4) grapple with the complex interplay among the child’s experiences and behaviors, contextual factors, parenting strategies, as well as parental goals and emotions. The current study reports data from a clinical trial of Focused Playtime Intervention (FPI), a parent coaching intervention targeting responsive parental behaviors and child communication. Seventy children with autism between 2 and 6 years and their parents were randomly assigned to participate in FPI for 12 weeks or an active control intervention. The Insightfulness Assessment was administered and used (a) to classify parents’ baseline capacity for reflection and self-evaluation as either established (i.e., positively insightful) or emerging, and (b) to capture longitudinal change in the parents’ capacity between baseline, exit (~5 months after baseline), and follow up (~14 months after exit) using a dimensional composite subscale score. Results revealed a significant treatment effect of FPI on growth in the parents’ capacity for reflection and self-evaluation, conditional on the parents’ classification at baseline. That is, parents whose capacity for reflection and self-evaluation was classified as emerging at baseline (n = 42) showed higher rates of growth when assigned to FPI, compared to the control condition. A similar treatment effect was not found for parents whose baseline capacity for reflection and self-evaluation was classified as established (i.e., positively insightful). This is the first study to show that a family-centered parent coaching intervention effectively increases the capacity for reflection and self-evaluation in parents of young children with autism. This capacity may enable parents to adapt and implement intervention strategies flexibly across contexts, daily routines, and interactions.
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15. Stanley CR, Belisle J, Dixon MR. {{Equivalence-based instruction of academic skills: Application to adolescents with autism}}. {Journal of applied behavior analysis}. 2018.
This study evaluated the efficacy of three equivalence-based instruction procedures on the acquisition of novel academic skills by 3 adolescents diagnosed with autism in a school setting. The skills targeted for instruction were related to topics in history, science, and mathematics, and were taught using different training structures from the PEAK-E curriculum. All participants demonstrated mastery of the trained relations and the tested derived relations following all variants of equivalence-based instruction.
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16. Talebizadeh Z, Shah A. {{Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study)}}. {The patient}. 2018.
BACKGROUND: Concerns over the need to improve translational aspects of genetics research studies and engaging community members in the research process have been noted in the literature and raised by patient advocates. In addition to the work done by patient advocacy groups, organizations such as the Patient-Centered Outcomes Research Institute advocate for a change in the culture of research from being researcher-driven to becoming more patient-driven. OBJECTIVE: Our project, Autism Genetics and Outcomes (AutGO), consists of two phases. The goal for phase I was to initiate a general discussion around the main topic (i.e., linking genetics and outcomes research). We used the Patient-Centered Outcomes Research Institute engagement approach to: (aim 1) develop a partnership with a wide range of stakeholders to assess their perspective on developing projects that use both genetics and outcomes research data/principles; (aim 2) identify barriers, facilitators, and needs to promote engagement in patient-centered genetics research; and (aim 3) distill and describe actions that may facilitate utilization of patient/parent perspectives in designing genetics research studies. METHODS: In phase I, we formed a community advisory board composed of 33 participants, including outcomes and genetics researchers, clinicians, healthcare providers, patients/family members, and community/industry representatives, and convened six sessions over the 12-month period. We structured the sessions as a combination of online PowerPoint presentations, surveys, and in-person group discussions. During the sessions, we discussed topics pertaining to linking genetics and outcomes research and reviewed relevant materials, including patient stories, research projects, and existing resources. RESULTS: Two sets of surveys, project evaluations (k = 2) and session evaluations (k = 6), were distributed among participants. Feedback was analyzed using content analysis strategies to identify the themes and subthemes. Herein, we describe: the established partnership (aim 1), the identified barriers, facilitators, and needs (aim 2), as well as the lessons learned and suggested recommendations for the research community (aim 3). Following phase I participants’ recommendation, in phase II, we will focus on a specific disease (i.e., autism); this projected plan is briefly outlined to highlight the overarching goal of the project and its potential significance. We also discuss the study limitations, challenges for conducting this type of multidisciplinary work, as well as potential ways to address them. CONCLUSIONS: The AutGO project has created a unique collaborative forum to facilitate the much needed dialogue between genetics and outcomes researchers, which may contribute to finding ways to improve the translational aspects of genetics research studies.
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17. Tuffrey-Wijne I, Curfs L, Finlay I, Hollins S. {{Euthanasia and assisted suicide for people with an intellectual disability and/or autism spectrum disorder: an examination of nine relevant euthanasia cases in the Netherlands (2012-2016)}}. {BMC medical ethics}. 2018; 19(1): 17.
BACKGROUND: Euthanasia and assisted suicide (EAS) have been legally possible in the Netherlands since 2001, provided that statutory due care criteria are met, including: (a) voluntary and well-considered request; (b) unbearable suffering without prospect of improvement; (c) informing the patient; (d) lack of a reasonable alternative; (e) independent second physician’s opinion. ‘Unbearable suffering’ must have a medical basis, either somatic or psychiatric, but there is no requirement of limited life expectancy. All EAS cases must be reported and are scrutinised by regional review committees (RTE). The purpose of this study was to investigate whether any particular difficulties arise when the EAS due care criteria are applied to patients with an intellectual disability and/or autism spectrum disorder. METHODS: The 416 case summaries available on the RTE website (2012-2016) were searched for intellectual disability (6) and autism spectrum disorder (3). Direct content analysis was used on these nine cases. RESULTS: Assessment of decisional capacity was mentioned in eight cases, but few details given; in two cases, there had been uncertainty or disagreement about capacity. Two patients had progressive somatic conditions. For most, suffering was due to an inability to cope with changing circumstances or increasing dependency; in several cases, suffering was described in terms of characteristics of living with an autism spectrum disorder, rather than an acquired medical condition. Some physicians struggled to understand the patient’s perspective. Treatment refusal was a common theme, leading physicians to conclude that EAS was the only remaining option. There was a lack of detail on social circumstances and how patients were informed about their prognosis. CONCLUSIONS: Autonomy and decisional capacity are highly complex for patients with intellectual disabilities and difficult to assess; capacity tests in these cases did not appear sufficiently stringent. Assessment of suffering is particularly difficult for patients who have experienced life-long disability. The sometimes brief time frames and limited number of physician-patient meetings may not be sufficient to make a decision as serious as EAS. The Dutch EAS due care criteria are not easily applied to people with intellectual disabilities and/or autism spectrum disorder, and do not appear to act as adequate safeguards.
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18. Turi M, Burr DC, Binda P. {{Pupillometry reveals perceptual differences that are tightly linked to autistic traits in typical adults}}. {eLife}. 2018; 7.
The pupil is primarily regulated by prevailing light levels but is also modulated by perceptual and attentional factors. We measured pupil-size in typical adult humans viewing a bistable-rotating cylinder, constructed so the luminance of the front surface changes with perceived direction of rotation. In some participants, pupil diameter oscillated in phase with the ambiguous perception, more dilated when the black surface was in front. Importantly, the magnitude of oscillation predicts autistic traits of participants, assessed by the Autism-Spectrum Quotient AQ. Further experiments suggest that these results are driven by differences in perceptual styles: high AQ participants focus on the front surface of the rotating cylinder, while those with low AQ distribute attention to both surfaces in a more global, holistic style. This is the first evidence that pupillometry reliably tracks inter-individual differences in perceptual styles; it does so quickly and objectively, without interfering with spontaneous perceptual strategies.
