1. Anderson CM, Smith T, Wilczynski SM. {{Advances in School-Based Interventions for Students With Autism Spectrum Disorder: Introduction to the Special Issue}}. {Behav Modif};2018 (Jan);42(1):3-8.
As the diagnosis of autism spectrum disorder has increased, so too has research on interventions to address core and associated features of autism. Although many methodologically rigorous studies on interventions have been reported, their relevance to educators is somewaht unclear. For example, only about 32% of evidence-based strategies identifed in these reviews were conducted in k-12 settings. Current literature also is limited in that, although many studies show that interventions can improve the communication and social interaction skills of individuals with autism, most of this work has been conducted with pre-school children; questions remain about the generality of these findings to school-aged children. Further, there are relatively few studies demonstrating effective interventions for restricted and repetitive behavior and much of this work was conducted in clinical settings. There is a need for studies documenting effective interventions that are feasible in school settings. The purpose of this special issue is two-fold. First, to highlight the need for school-based research with students with autism and second to highlight recent work delineating intervention strategies found to be effective in school settings.
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2. Anderson KL, Self TL, Carlson BN. {{Interprofessional Collaboration of Dental Hygiene and Communication Sciences & Disorders Students to Meet Oral Health Needs of Children with Autism}}. {J Allied Health};2017 (Winter);46(4):e97-e101.
PURPOSE: This pilot project was intended to introduce an authentic interprofessional education experience with students from Communication Sciences & Disorders (CSD) and Dental Hygiene (DH) to develop and apply strategies to assist children diagnosed with autism spectrum disorder (ASD) to decrease their anxiety and improve their ability to participate in an oral screening and prophylaxis appointment. The second purpose was for students to learn each other’s scope of practice. METHODS: Four children diagnosed with ASD were identified as having dental anxiety and unmet dental needs. The students collaborated to develop visual support strategies to support the implementation of an oral screening and prophylaxis. RESULTS: Three participants were able to participate in the oral screening, instruction for brushing teeth, and prophylaxis. The students reported having a better understanding of each other’s roles and responsibilities and feeling more confident working with a child with ASD. CONCLUSION: The DH students were better able to identify the characteristics associated with ASD and to develop and use visual supports to assist children with ASD control anxiety during dental prophylaxis procedures. The CSD students learned techniques that hygienists use and how to help parents prepare their children for dental hygiene treatments.
3. Chien YL, Hsieh MH, Gau SS. {{Mismatch Negativity and P3a in Adolescents and Young Adults with Autism Spectrum Disorders: Behavioral Correlates and Clinical Implications}}. {J Autism Dev Disord};2017 (Dec 2)
In a sample of 37 adolescents and young adults with autism spectrum disorder (ASD) and 35 typically-developing controls (TDC), we investigated sensory symptoms by clinical measures, and Mismatch Negativity and P3a component at Fz with the frequency and duration oddball paradigms of event-related potentials. Results showed that compared to TDC, ASD participants reported more sensory symptoms, and presented a shorter P3a peak latency in the duration paradigm, which was correlated with more social awareness deficits. In the frequency paradigm, P3a parameters were correlated with sensation avoiding and attention characteristics of ASD. Our findings suggest that sensory abnormality in ASD may extend into adolescence and young adulthood. P3a latency might be a potential neurophysiological marker for ASD.
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4. Deshpande A, Yadav S, Dao DQ, Wu ZY, Hokanson KC, Cahill MK, Wiita AP, Jan YN, Ullian EM, Weiss LA. {{Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder}}. {Cell Rep};2017 (Dec 5);21(10):2678-2687.
A deletion or duplication in the 16p11.2 region is associated with neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. In addition to clinical characteristics, carriers of the 16p11.2 copy-number variant (CNV) manifest opposing neuroanatomical phenotypes-e.g., macrocephaly in deletion carriers (16pdel) and microcephaly in duplication carriers (16pdup). Using fibroblasts obtained from 16pdel and 16pdup carriers, we generated induced pluripotent stem cells (iPSCs) and differentiated them into neurons to identify causal cellular mechanisms underlying neurobiological phenotypes. Our study revealed increased soma size and dendrite length in 16pdel neurons and reduced neuronal size and dendrite length in 16pdup neurons. The functional properties of iPSC-derived neurons corroborated aspects of these contrasting morphological differences that may underlie brain size. Interestingly, both 16pdel and 16pdup neurons displayed reduced synaptic density, suggesting that distinct mechanisms may underlie brain size and neuronal connectivity at this locus.
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5. Fein D, Helt M. {{Facilitating Autism Research}}. {J Int Neuropsychol Soc};2017 (Oct);23(9-10):903-915.
Early autism research focused on behavior and cognition. In recent decades, the pace of research has accelerated, and advances in imaging and genetics have allowed the accumulation of biological data. Nevertheless, a coherent picture of the syndrome at either phenotypic or biological level has not emerged. We see two fundamental obstacles to progress in basic understanding of autism. First, the two defining features (impairment in social interactions and communication, and restricted, repetitive behaviors and interests) are historically seen as integrally related. Others hold that these two major traits are fractionable and must be studied independently, casting doubt on autism as a coherent syndrome. Second, despite much recent research on brain structure and function, environmental factors, and genetics/genomics, findings on the biological level have not generally aligned well with those on the phenotypic level. In the first two sections, we explore these challenges, and in the third section, we review approaches that may facilitate progress, such as (1) including in studies all individuals defined by social impairment without regard to repetitive behaviors, (2) forming narrowly defined subtypes by thorough characterization on specific features, both diagnostic and non-diagnostic, (3) focusing on characteristics that may be relatively robust to environmental influence, (4) studying children as early as possible, minimizing environmental influence, and including longitudinal course as an important part of the phenotype, (5) subtyping by environmental risk factors, (6) distinguishing between what participants can do and what they typically do, and (7) aggregating large data sets across sites. (JINS, 2017, 23, 903-915).
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6. Fukuyama H, Kumagaya SI, Asada K, Ayaya S, Kato M. {{Publisher Correction: Autonomic versus perceptual accounts for tactile hypersensitivity in autism spectrum disorder}}. {Sci Rep};2017 (Dec 5);7(1):17276.
A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.
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7. Gabis LV, Hochberg O, Leon Attia O, Banet-Levi Y, Topf D, Shefer S. {{Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome}}. {J Pediatr};2017 (Dec 5)
OBJECTIVE: To evaluate the diagnostic process in children ultimately diagnosed with fragile X syndrome (FXS), with an emphasis on the time lag between initial presentation and on diagnosis in female vs male children. STUDY DESIGN: Interviews were conducted with 89 families of children with a final diagnosis of FXS and assessment of time intervals between initial presentation and confirmed molecular diagnosis. RESULTS: Screening of 117 patients (25 female patients) from the 89 families revealed that less than 20% of patients obtained a diagnosis within the first year of seeking medical attention. Mean age at the time of initial presentation was 12.3 months in male patients and 23 months in female patients, while definitive diagnosis of FXS was made at a mean of 4 and 9 years, respectively. Presenting symptoms of developmental delays were recognized by 72% of parents, and 84% had another child with FXS before the index case diagnosis. Average age of diagnosis for children with FXS born since 2007 was significantly lower at 31.9 months, compared with 69.5 months for children born before 2007. CONCLUSIONS: Although FXS is a significant and prevalent cause of disability in children, it is underdiagnosed and diagnosed late, especially in female patients. In every male and female patient presenting with developmental delay or autism, FXS should be considered. Dysmorphic physical features may not be present in infancy, and the absence of those features cannot exclude a diagnosis of FXS.
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8. Gerow S, Hagan-Burke S, Rispoli M, Gregori E, Mason R, Ninci J. {{A Systematic Review of Parent-Implemented Functional Communication Training for Children With ASD}}. {Behav Modif};2017 (Dec 1):145445517740872.
Supporting parents in reducing challenging behavior of children with autism spectrum disorder (ASD) requires the identification of effective, feasible, and sustainable interventions. Functional communication training (FCT) is one of the most well-established interventions in the behavioral literature and is used increasingly by parents. However, there is a need for additional evaluation of the literature related to parent-implemented FCT. In the present review, we identified 26 peer-reviewed studies on parent-implemented FCT. We conducted systematic descriptive and social validity analyses to summarize the extant literature. Across studies, parent-implemented FCT was effective in reducing child challenging behavior, and in some cases, intervention outcomes maintained and generalized to novel settings and implementers. However, few studies reported fidelity data on parent implementation of FCT, and data regarding sustained use of FCT by parents were limited. Results of the social validity analysis indicate that while FCT is often implemented by natural change agents in typical settings, parent training is often provided by professionals not typically accessible to parents. These findings suggest that future research is warranted in the areas of parent training and long-term sustainability of parent-implemented FCT.
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9. Gnanavel S. {{Biomarkers in autism spectrum disorders: An illusion or promising reality?}}. {Indian J Psychol Med};2017 (Sep-Oct);39(5):714-715.
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10. Golden CE, Buxbaum JD, De Rubeis S. {{Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability}}. {Curr Opin Neurobiol};2017 (Dec 5);48:106-112.
Autism spectrum disorder (ASD) and intellectual disability (ID) are caused by a wide range of genetic mutations, a significant fraction of which reside in genes important for synaptic function. Studies have found that sensory, prefrontal, hippocampal, cerebellar, and striatal regions, as well as the circuits that connect them, are perturbed in mouse models of ASD and ID. Dissecting the disruptions in morphology and activity in these neural circuits might help us to understand the shared risk between the two disorders as well as their clinical heterogeneity. Treatments that target the balance between excitation and inhibition in these regions are able to reverse pathological phenotypes, elucidating this deficit as a commonality across models and opening new avenues for intervention.
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11. Grabowski PAP, Bello AF, Rodrigues DL, Forbeci MJ, Motter V, Raskin S. {{Deletion Involving the 7q31-32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress}}. {Case Rep Psychiatry};2017;2017:4254152.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by impairments in social functioning, language, communication, and behavior. Recent genome-wide association studies show some microdeletions on the 7q31-32 region, including the CADPS2 locus in autistic patients. This paper reports the case of a patient with ASD and recurrent psychotic syndrome, in which a deletion on the 7q31-32 band at the CADPS2 gene locus was evidenced, as well as a brief review of the literature on the CADPS2 gene and its association with ASD.
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12. Jongsma K, Spaeth E, Schicktanz S. {{Epistemic injustice in dementia and autism patient organizations: An empirical analysis}}. {AJOB Empir Bioeth};2017 (Oct-Dec);8(4):221-233.
Patient organizations (POs) represent patient collectives in health care policy. The inclusion of people with a ‘neuro-psychiatric’ condition poses a particular challenge for the organizational processes and political representation of such collectives. In recent years, new POs (POs of) have been established in the field of autism spectrum disorder and dementia that advocate a different agenda and have a different organizational structure than traditional POs (POs for). The divide between these two types of POs indicates a different standpoint with regard to who should be included on an organizational level, which voices are accepted and who should represent these voices on the political level. The inclusion and exclusion of voices needs to be normatively justified in order to be regarded legitimate representation of such a collective. With the help of Miranda Fricker’s theory of epistemic injustice, we scrutinize whether and, if so, which types of epistemic injustices (wrongdoings to a person as a knower) can be found within POs’ practices and the political field in which they operate, by analyzing 37 interviews with PO representatives, their members and policy makers. Our in-depth analysis indicates that persistent stereotypes hamper the inclusion of affected members both within POs and on the health political level. Being affected causes distrust in having the ‘capacity to know’ in a two-fold way; it is assumed that those who can represent themselves are « not affected enough » to present valuable insights into the condition and those who have difficulties to express themselves due to their condition are excluded because of their affectedness. We conclude that our analysis of the epistemic practices of POs serves as a good starting point to address these shortcomings from a theoretical and practical perspective and offers a valuable starting point for bioethics to understand unjust structures in the health political context.
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13. Kelly MP, Kim HJ, Ames CP, Burton DC, Carreon LY, Polly DW, Jr., Hostin R, Jain A, Gum JL, Lafage V, Schwab FJ, Shaffrey CI, Smith JS, Bess S. {{Minimum Detectable Measurement Difference (MDMD) for Health Related Quality of Life (HRQL) Measures Varies According Age and Disability in Adult Spinal Deformity (ASD): Implications for Calculating Minimal Clinically Important Difference (MCID)}}. {Spine (Phila Pa 1976)};2017 (Dec 5)
STUDY DESIGN: Retrospective cohort. OBJECTIVE: To investigate the minimum detectable measurement difference (MDMD) in the Scoliosis Research Society-22r (SRS-22r) outcomes instrument in adult spinal deformity (ASD) and to evaluate the effect of baseline data on measurable difference. SUMMARY OF BACKGROUND DATA: The minimum clinically important difference (MCID) is the smallest, clinically relevant change observed and has been proposed for the SRS-22r instrument in ASD as 0.4. The MCID must be greater than the MDMD to be useful. The MDMD for the SRS-22r has not been calculated, nor have the effect of patient baseline values on MDMD. METHODS: A prospective observation cohort was queried for patients treated both operatively and nonoperatively for ASD. Patients with baseline and 1-year, 2-year followup SRS-22r data were included in the analysis. The MDMD was calculated using classical test theory and item-response theory methods. Effect size and standardized response means were calculated. The effect of baseline data values was evaluated for MDMD. RESULTS: 839 Patients were eligible for cohort inclusion with 428 (51%) eligible for analysis with complete data. MDMD for Pain (0.6) and Self Image (0.5) were greater than 0.4. MDMD varied with age (highest for the youngest patients) and with disability (highest for SF-36 Physical Component Summary < 28.6). MDMD was less than 0.4 for Activity (0.3), Mental Health (0.3), and Total Score (0.2). Gender and mental health did not affect MDMD for the SRS-22r instrument. CONCLUSIONS: An MCID of 0.4 for the SRS-22r total score and domain scores may not be an appropriate value as the calculated MDMD is greater than 0.4 for both the Pain and Self Image subscores. The MDMD for the SRS-22r instrument varied with age and baseline disability, making the assessment of clinically significant change more difficult using this tool. The MCID must be considered in the setting of the MDMD for instruments used to assess outcomes in ASD. LEVEL OF EVIDENCE: 3. Lien vers le texte intégral (Open Access ou abonnement)
14. Kodak T, Cariveau T, LeBlanc BA, Mahon JJ, Carroll RA. {{Selection and Implementation of Skill Acquisition Programs by Special Education Teachers and Staff for Students With Autism Spectrum Disorder}}. {Behav Modif};2018 (Jan);42(1):58-83.
The present investigation examined special education teachers’ selection and use of teaching strategies for receptive identification training with children with autism spectrum disorder (ASD) in their classrooms. Teachers first responded to a survey in which they provided examples of receptive identification tasks taught in their classrooms, rated the efficacy of teaching strategies, described how they determined whether skills were mastered, listed any assessments they conducted to identify relevant prerequisite skills prior to receptive identification training, described how they selected teaching strategies for use in their classrooms, and listed their years of experience as a teacher and working with children with ASD. Subsequent observations of implementation of teaching strategies during trial-based instruction occurred in a proportion of teachers’ classrooms. The results of the observations showed that participants did not consistently implement components of trial-based instruction as described in the literature, and there were differences in implementation depending on the types of skills targeted during instruction.
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15. Mesuret G, Dannenberg J, Arnoldt M, Grutzner AA, Niebert M, Hulsmann S. {{Breathing disturbances in a model of Rett syndrome: A potential involvement of the glycine receptor alpha3 subunit?}}. {Respir Physiol Neurobiol};2017 (Dec 5);248:43-47.
The glycine receptor alpha3 subunit is known to be a target for cAMP/PKA-mediated phosphorylation and regulation. Mice that lack this subunit are apparently normal but the 5-HT1A-receptor mediated modulation of respiratory network activity is disturbed. Since the intracellular cAMP-concentration is reduced in mice that lack the transcriptional modulator methyl-CpG-binding protein 2 (MeCP2) gene, we aimed to test if the alpha3 subunit of the glycine receptor is involved in the development of the breathing phenotype of MeCP2-deficient mice (Mecp2(-/y)). Therefore, we generated a double knock-out mouse line that lacks both the Mecp2 gene as well as the gene (Glra3) for the alpha3 subunit of the ionotropic glycine receptor. As compared to WT and Glra3(-/-) mice, both Mecp2(-/y) mice and Mecp2(-/y); Glra3(-/-) mice (DKO) showed a slower respiratory rate and a tendency towards higher numbers of apneas. Interestingly, the irregularity of the breathing was significantly reduced in DKO as compared to Mecp2(-/y) littermates. In the light of the unaltered survival of DKO mice, however, the contribution of the glycine receptor alpha3 subunit for development and progression of the breathing disturbances in the mouse model of Rett syndrome appears to be only of minor relevance.
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16. Nah YH, Brewer N, Young RL, Flower R. {{Brief Report: Screening Adults with Autism Spectrum Disorder for Anxiety and Depression}}. {J Autism Dev Disord};2017 (Dec 2)
Although depression and anxiety are the most common comorbidities in individuals with Autism Spectrum Disorder (ASD), descriptive data for their prevalence among autistic adults are limited. This study provides descriptive data for a cohort of 155 autistic adults (mean age = 27.1 years, SD = 11.9) of average IQ on the short-form version of the Depression Anxiety Stress Scales and the Mini Social Phobia Inventory. Also included were 79 non-ASD participants (mean age = 26.2, SD = 10.2) who completed the mini-SPIN. A substantial percentage (39-46%) of autistic adults scored within the ‘Moderate’ to ‘Extremely Severe’ range on the DASS-21. The DASS-21 would be a valuable rapid screening device for these comorbid conditions in autistic adults.
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17. Riedel BC, Jahanshad N, Thompson PM. {{Graph theoretical approaches towards understanding differences in frontoparietal and default mode networks in Autism}}. {Proc IEEE Int Symp Biomed Imaging};2017;2017:460-463.
Autism Spectrum Disorder is a complex developmental disorder affecting 1 in 68 children in the United States. While the prevalence may be on the rise, we currently lack a firm understanding of the etiology of the disease, and diagnosis is made purely on behavioral observation and informant report. As one method to improve our understanding of the disease, the current study took a systems-level approach by assessing the causal interactions among the frontoparietal and default mode networks using structural covariance of a large Autism dataset. Although preliminary, we report diffuse yet subtle changes throughout these networks when comparing age and sex matched controls to ASD patients.
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18. Spencer M, Takahashi N, Chakraborty S, Miles J, Shyu CR. {{Heritable genotype contrast mining reveals novel gene associations specific to autism subgroups}}. {J Biomed Inform};2017 (Nov 29)
Though the genetic etiology of autism is complex, our understanding can be improved by identifying genes and gene-gene interactions that contribute to the development of specific autism subtypes. Identifying such gene groupings will allow individuals to be diagnosed and treated according to their precise characteristics. To this end, we developed a method to associate gene combinations with groups with shared autism traits, targeting genetic elements that distinguish patient populations with opposing phenotypes. Our computational method prioritizes genetic variants for genome-wide association, then utilizes Frequent Pattern Mining to highlight potential interactions between variants. We introduce a novel genotype assessment metric, the Unique Inherited Combination support, which accounts for inheritance patterns observed in the nuclear family while estimating the impact of genetic variation on phenotype manifestation at the individual level. High-contrast variant combinations are tested for significant subgroup associations. We apply this method by contrasting autism subgroups defined by severe or mild manifestations of a phenotype. Significant associations connected 286 genes to the subgroups, including 193 novel autism candidates. 71 pairs of genes have joint associations with subgroups, presenting opportunities to investigate interacting functions. This study analyzed 12 autism subgroups, but our informatics method can explore other meaningful divisions of autism patients, and can further be applied to reveal precise genetic associations within other phenotypically heterogeneous disorders, such as Alzheimer’s disease.
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19. Tounsi A. {{Children With Autism Spectrum Disorders can be Successfully Examined Using Dental Desensitization}}. {J Evid Based Dent Pract};2017 (Dec);17(4):414-415.
ARTICLE TITLE AND BIBLIOGRAPHIC INFORMATION: Predicting successful dental examinations for children with autism spectrum disorder in the context of a dental desensitization program. Nelson T, Chim A, Sheller BL, McKinney CM, Scott JM. J Am Dent Assoc 2017; 148(7): 485-92. SOURCE OF FUNDING: Not available TYPE OF STUDY: Cohort study.
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20. Vivanti G, Kasari C, Green J, Mandell D, Maye M, Hudry K. {{Implementing and evaluating early intervention for children with autism: Where are the gaps and what should we do?}}. {Autism Res};2017 (Dec 5)
Despite recent advances, the evidence base supporting early intervention for young children with autism spectrum disorder (ASD) remains relatively sparse. The International Society for Autism Research (INSAR) recently sponsored a Special Interest Group (SIG) on Implementing and Evaluating Community-Based Early Intervention. Across three meetings, in 2015, 2016, and 2017, conveners of this SIG engaged >200 members to identify knowledge gaps and research priorities for moving the field forward. Here, we summarize the perspectives that emerged from group discussion at the SIG meetings as represented by scholars working actively in the field. Despite encouraging progress, critical gaps and research priorities were identified across all the stages of intervention development and testing from conceptualization to community implementation. Key issues include the need for (a) formal theories to guide early intervention development, evaluation, and implementation; and alignment of intervention goals with scientific knowledge and societal changes that have occurred in the decades since interventions were originally developed; (b) increased focus on feasibility of treatment procedures and alignment with stakeholder values during pilot evaluations; (c) use of research designs that allow for comparisons of different interventions and formats, analyses of active ingredients of treatment, and identification of moderators and mediators of outcome; (d) use of community-partnered participatory research to guide adaptation of intervention models to community settings; (e) inclusion of constructs related to implementation processes and outcomes in treatment trials and; (f) an iterative approach to the progression of knowledge from intervention development to implementation. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In this article, we summarize the themes discussed at the INSAR Special Interest Group (SIG) on Implementing and Evaluating Community-Based Early Intervention. Priorities for moving the field forward identified in the SIG included the need for (a) formal theories to guide the development and evaluation of interventions, (b) pilot evaluations that investigate feasibility and acceptability of interventions, (c) methodologies that allow us to determine for whom different interventions bring most benefit and why this is so, (d) strategies to include community members and other stakeholders in the process of developing and evaluating interventions, and (e) understanding of factors that make interventions more likely to be adopted and successfully implemented in the real world.
