Pubmed du 26/01/20

dimanche 26 janvier 2020

1. An Y, Zhang L, Liu W, Jiang Y, Chen X, Lan X, Li G, Hang Q, Wang J, Gusella JF, Du Y, Shen Y. De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth. Hum Genet ;2020 (Jan 24)

CHD8, which encodes Chromodomain helicase DNA-binding protein 8, is one of a few well-established Autism Spectrum Disorder (ASD) genes. Over 60 mutations have been reported in subjects with variable phenotypes, but little is known concerning genotype-phenotype correlations. We have identified four novel de novo mutations in Chinese subjects : two nonsense variants (c.3562C>T/p.Arg1188X, c.2065C>A/p.Glu689X), a splice site variant (c.4818-1G>A) and a missense variant (c.3502T>A/p.Tyr1168Asn). Three of these were identified from a 445-member ASD cohort by ASD gene panel sequencing of the 96 subjects who remained negative after molecular testing for copy number variation, Rett syndrome, FragileX and tuberous sclerosis complex (TSC). The fourth (p.Glu689X) was detected separately by diagnostic trio exome sequencing. We used diagnostic instruments and a comprehensive review of phenotypes, including prenatal and postnatal growth parameters, developmental milestones, and dysmorphic features to compare these four subjects. In addition to autism, they also presented with prenatal onset macrocephaly, intellectual disability, overgrowth during puberty, sleep disorder, and dysmorphic features, including broad forehead with prominent supraorbital ridges, flat nasal bridge, telecanthus and large ears. For further comparison, we compiled a comprehensive list of CHD8 variants from the literature and databases, which revealed constitutive and somatic truncating variants in the HELIC (Helicase-C) domain in ASD and in cancer patients, respectively, but not in the general population. Furthermore, HELIC domain mutations were associated with a severe phenotype defined by a greater number of clinical features, lower verbal IQ, and a prominent, consistent pattern of overgrowth as measured by weight, height and head circumference. Overall, this study adds to the ASD-associated loss-of-function mutations in CHD8 and highlights the clinical importance of the HELIC domain of CHD8.

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2. Anand N, Agrawal A, Burger EL, Ferrero E, Fogelson JL, Kaito T, LaGrone MO, Le Huec JC, Lee JH, Mudiyam R, Sasao Y, Sembrano JN, Trobisch PD, Yang SH. The Prevalence of the Use of MIS Techniques in the Treatment of Adult Spinal Deformity (ASD) Amongst Members of the Scoliosis Research Society (SRS) in 2016. Spine Deform ;2019 (Mar) ;7(2):319-324.

STUDY DESIGN : Electronic survey administered to Scoliosis Research Society members. OBJECTIVE : To determine the prevalence of minimally invasive surgery (MIS) techniques for the treatment of adult spinal deformity. There is a paucity of data available on the practice pattern, prevalence of minimally invasive spine surgery, and the preferred minimally invasive techniques in the treatment of adult spine deformity. METHODS : An electronic nine-question survey regarding individual usage pattern of minimally invasive spine surgery techniques was administered in 2016 to the members of the Scoliosis Research Society. Determinants included complexity in condition of patient population, prevalence of use of minimally invasive techniques in the surgeon’s practice, prevalence of use of a particular MIS technique, strategy elected during surgery, adoption of staging of procedures and timing between staging of procedures. RESULTS : A total of 357 surgeons responded (61.3% response rate), and 154 (43.1%) of the respondents said that they use MIS as a part of their surgical treatment of adult spinal deformity. However, of these 154 respondents, 67 (43.5%) said that their MIS usage in deformity practice was between 1% and 20%. Only 11 (7.2%) said that they used MIS 81% to 100% of the time. The top MIS approaches that surgeons chose were MIS lateral lumbar interbody fusion 109 (70.59%) and MIS percutaneous screws 91 (58.8%). CONCLUSIONS : The low rate of adoption of these techniques among the SRS members may be due to the false perception that there is not enough data to support that MIS techniques are better. This and the fact that a practitioner needs to be facile at different MIS techniques may be the true impediment to the adoption of MIS techniques in the treatment of ASD. LEVEL OF EVIDENCE : Level IV.

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3. Barry L, Holloway J, Gunning C. An investigation of the effects of a parent delivered stimulus-stimulus pairing intervention on vocalizations of two children with Autism Spectrum Disorder. Anal Verbal Behav ;2019 (Apr) ;35(1):57-73.

Communication deficits in children with Autism Spectrum Disorder (ASD) can manifest in a myriad of lifelong social and educational challenges. Many children with ASD fail to learn vocal verbal behavior and may require intensive individualized intervention to learn early verbal operants. The current research aimed to evaluate the effects of a parent delivered stimulus-stimulus pairing (SSP) procedure on target vocalizations of two young children with ASD who did not present with vocal verbal behavior. Results indicated the intervention was successful in increasing the frequency of the target vocalizations for both participants. Social validity results indicated that parents were satisfied with the intervention and their own implementation of these procedures. These results are discussed in terms of their implications for parent delivered interventions.

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4. DeQuinzio JA, Poulson CL, Townsend DB, Taylor BA. Social Referencing and Children with Autism. Behav Anal ;2016 (Oct) ;39(2):319-331.

During social referencing, infants as young as 6 months of age look to others when confronted with unfamiliar or unexpected events in the environment and then respond to these events based on affective cues of the parent or caregiver (e.g., smiling and frowning). Social referencing is important for early communication and language development. Unfortunately, social referencing repertoires are limited or completely lacking in children with autism. Despite these documented social deficits, little research has focused on ameliorating social referencing deficits. The purpose of this paper is to present a behavior-analytic conceptualization of social referencing and the implications for ameliorating social referencing deficits of children with autism.

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5. Dixon MR, Belisle J, McKeel A, Whiting S, Speelman R, Daar JH, Rowsey K. An Internal and Critical Review of the PEAK Relational Training System for Children with Autism and Related Intellectual Disabilities : 2014-2017. Behav Anal ;2017 (Nov) ;40(2):493-521.

The PEAK Relational Training System was designed as an assessment instrument and treatment protocol for addressing language and cognitive deficits in children with autism. PEAK contains four comprehensive training modules : Direct Training and Generalization emphasize a contingency-based framework of language development, and Equivalence and Transformation emphasize an approach to language development consistent with Relational Frame Theory. The present paper provides a comprehensive and critical review of peer-reviewed publications based on the entirety PEAK system through April, 2017. We describe both psychometric and outcome research, and indicate both positive features and limitations of this body of work. Finally, we note several research and practice questions that remain to be answered with the PEAK curriculum as well as other many other autism assessment and treatment protocols that are rooted within the framework of applied behavior analysis.

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6. Dowdy A, Jacobs KW. An Empirical Evaluation of the Disequilibrium Model to Increase Independent Seatwork for an Individual Diagnosed with Autism. Behav Anal Pract ;2019 (Sep) ;12(3):617-621.

This brief practice is an evaluation of work output predicted by Timberlake’s (1980) disequilibrium model. Jacobs, Morford, King, and Hayes (2017) provided a downloadable, online tool using the disequilibrium model to assist practitioners in maximizing intervention outcomes. The disequilibrium model was used to predict the duration of independent seatwork for Marvin, a 17-year-old boy diagnosed with autism spectrum disorder. The disequilibrium model effectively predicted a work duration that Marvin was compliant with throughout the study. Practitioners should consider using the disequilibrium tool to select intervention parameters.

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7. Duan X, Wang R, Xiao J, Li Y, Huang X, Guo X, Cao J, He L, He C, Ling Z, Shan X, Chen H, Kang X, Chen H. Subcortical structural covariance in young children with autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry ;2020 (Jan 22):109874.

Abnormalities in the structure of subcortical regions are central to numerous behaviors affected by autism spectrum disorder (ASD), and these regions may undergo atypical coordinated neurodevelopment. However, relatively little is known about morphological correlations among subcortical structures in young children with ASD. In this study, using volumetric-based methodology and structural covariance approach, we investigated structural covariance of subcortical brain volume in 40 young children with ASD (<7.5years old) and 38 age-, gender-, and handedness-matched typically developing (TD) children. Results showed that compared with TD children, children with ASD exhibited decreased structural covariation between the left and right cerebral hemispheres, specifically between the left and right thalami, right globus pallidus and left nucleus accumbens, and left globus pallidus and right nucleus accumbens. Compared with TD children, children with ASD exhibited increased structural covariation between adjacent regions, such as between the right globus pallidus and right putamen. Additionally, abnormalities in subcortical structural covariance can predict social communication and repetitive and stereotypic behavior in young children with ASD. Overall, these results suggest decreased long-range structural covariation and enhanced local covariation in subcortical structures in children with ASD, highlighting aberrant developmental coordination or synchronized maturation between subcortical regions that play crucial roles in social cognition and behavior in ASD.

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8. Frampton SE, Thompson TM, Bartlett BL, Hansen B, Alice Shillingsburg M. The Use of Matrix Training to Teach Color-Shape Tacts to Children with Autism. Behav Anal Pract ;2019 (Jun) ;12(2):320-330.

Matrix training consists of preplanning instruction by arranging components of desired skills across a minimum of two axes. In the current study, three matrices were developed for each participant (e.g., Matrix 1, Generalization Matrix 1, and Generalization Matrix 2) with known color and shape components. Following baseline, nonoverlapping (i.e., diagonal) training was conducted with Matrix 1. Results of posttests were used to determine the extent of emergence of untrained color-shape combinations across all matrices. Results from all six participants indicated that mastery criteria were eventually met for Matrix 1. For five participants, mastery criteria were also eventually met for generalization matrices. Results replicate findings from prior studies and offer a simple approach for both testing emergence of untrained skills and remediating responding.

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9. Hanley M, Riby DM, Derges MJ, Douligeri A, Philyaw Z, Ikeda T, Monden Y, Shimoizumi H, Yamagata T, Hirai M. Does culture shape face perception in autism ? Cross-cultural evidence of the own-race advantage from the UK and Japan. Dev Sci ;2020 (Jan 25):e12942.

Autism spectrum disorders (ASD) are associated with face perception atypicalities, and atypical experience with faces has been proposed as an underlying explanation. Studying the own-race advantage (ORA) for face recognition can reveal the effect of experience on face perception in ASD, although the small number of studies in the area present mixed findings. The current study probed the ORA in ASD by comparing two cultural groups simultaneously for the first time. Children with ASD in the UK (N=16) and Japan (N=26) were compared to age and ability matched TD children in the UK (N=16) and Japan (N=26). Participants completed a two-alternative forced-choice task, whereby they had to recognise a just-seen face from a foil which was manipulated in one of four ways (IC : identity change ; EE : easy eyes ; HE : hard eyes ; HM : hard mouth). Face stimuli were Asian and Caucasian, and thus the same stimuli were own and other-race depending on the cultural group. The ASD groups in the UK and Japan did not show impaired face recognition abilities, or impairments with recognising faces depending on manipulations to the eye region, and importantly they showed an ORA. There was considerable heterogeneity in the presence of the ORA in ASD and TD and also across cultures. Children in Japan had higher accuracy than children in the UK, and TD children in Japan did not show an ORA. The present cross-cultural study challenges the view that atypical experiences with faces lead to a reduced/absent ORA in ASD.

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10. Hartley C, Fisher S, Fletcher N. Exploring the influence of ownership history on object valuation in typical development and autism. Cognition ;2020 (Jan 21) ;197:104187.

Items with special histories (e.g. celebrity owners) or qualities (e.g. limited editions) are more valuable than similar "inauthentic" items. Typically developing (TD) children privilege authenticity and are particularly influenced by who objects belong to. Here, we explore why children and adults over-value items with special ownership histories and examine how autism spectrum disorder (ASD) affects object valuation. In Studies 1 and 2, TD children perceived items belonging to famous owners (with "good" or "bad" reputations) to be more valuable than similar items belonging to non-famous owners. However, they ascribed significantly higher values to items belonging to famous heroes than infamous villains when compared. Children with ASD did not over-value objects with special ownership histories, but their valuations were moderated by qualities unrelated to ownership (e.g. rarity). In Study 3, adults with ASD assigned high values to authentic items with special ownership histories but were more likely to keep inauthentic objects than neurotypical adults. Our findings show that association with a famous owner is sufficient to increase an item’s value for TD children and adults (with and without ASD). The degree of added value may be determined by the famous owner’s character for TD children, but not adults. By contrast, children with ASD value objects via a different strategy that prioritizes material qualities over ownership history. However, the awareness of authenticity displayed by adults with ASD suggests that the emergence of ownership history as an important influence on object evaluation may be developmentally delayed in ASD, rather than completely absent.

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11. Klin A. Biomarkers in Autism Spectrum Disorder : Challenges, Advances, and the Need for Biomarkers of Relevance to Public Health. Focus (Am Psychiatr Publ) ;2018 (Apr) ;16(2):135-142.

Although autism spectrum disorder (ASD) is the most strongly genetic of all complex neuropsychiatric disorders, it is still defined and diagnosed behaviorally. The vast genotypic and phenotypic heterogeneity of the condition necessitate a vigorous search for biological markers capable of aiding in diagnosis, identifying more homogeneous subgroups for biological study, individualizing treatment, and measuring treatment response. Many candidate biomarkers are available, spanning genetic, metabolic, electroencephalographic, magnetic resonance imaging, and neuropsychological methods. Although biomarker research has focused primarily on mechanistic etiologic hypotheses, the biomarkers more likely to result in optimized clinical outcomes in the near term are cost-effective and community-viable measures obtained through eye-tracking technology involving infants and toddlers. Although these tools are still far from being ready for widespread application, the goal is to develop objective procedures and measures for population-based screening and diagnosis to increase access to early treatment and intervention.

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12. Levine BH. Is My Son Autistic ?. Focus (Am Psychiatr Publ) ;2016 (Oct) ;14(4):485-487.

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13. Li A, Curiel H, Ragotzy SP, Poling A. Using a Lottery to Promote Physical Activity by Young Adults with Developmental Disabilities. Behav Anal Pract ;2019 (Sep) ;12(3):612-616.

Exercise benefits adults with developmental disabilities. A prior study demonstrated that a treatment package comprising goal setting and fixed-ratio 1 reinforcement for goal attainment substantially increased walking. However, continuous reinforcement delivery may be untenable due to cost and time. In an effort to develop a more practical package intervention, we evaluated a procedure that involved setting goals for steps taken each 6-h school day and a lottery system for awarding prizes for goal completion. Three of the four participants took substantially more steps when the intervention was in effect, and all of them rated it as highly acceptable.

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14. Northgrave J, Vladescu JC, DeBar RM, Toussaint KA, Schnell LK. Reinforcer Choice on Skill Acquisition for Children with Autism Spectrum Disorder : a Systematic Replication. Behav Anal Pract ;2019 (Jun) ;12(2):401-406.

Providing students with autism spectrum disorder (ASD) a choice of putative reinforcers during learning trials may confer advantage during skill acquisition programming. However, such advantage should not be assumed and may not be associated with the most efficient instructional arrangement. In the current study, we taught labels of common object or conditional discriminations to participants with ASD and evaluated efficiency of instruction across child- and experimenter-choice instructional conditions. The results indicated that the most efficient acquisition was observed during the experimenter-choice condition for both participants.

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15. Sances J, Day-Watkins J, Connell JE. Teaching an Adult With Autism Spectrum Disorder to Use an Activity Schedule During a Vocational Beekeeping Task. Behav Anal Pract ;2019 (Jun) ;12(2):435-439.

Recent federal legislation passed supports investment in sustainable green jobs. Beekeeping is one type of sustainable vocation. Activity schedules have shown effectiveness in increasing the independence of children with autism engaged in various tasks. This study investigated the effects of a treatment package consisting of an activity schedule plus contingent reinforcement on increasing the number of steps completed independently by an adult with autism employed at an apiary. The data demonstrate that the treatment package led to a higher percentage of steps completed correctly.

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16. Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C, Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Borglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell ;2020 (Jan 23)

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD ; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

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17. Solares L, Fryling MJ. Further Evaluation of the Stimulus Pairing Observation Procedure with Children with Autism Spectrum Disorder. Anal Verbal Behav ;2019 (Apr) ;35(1):85-93.

A large amount of learning occurs through the observation of stimulus-stimulus relations. One procedure that involves this sort of learning is the stimulus-pairing observation procedure (SPOP). The current study involves a systematic replication of Byrne, Rehfeldt, and Aguirre (2014). Tests for the emergence of tact and listener relations were conducted pre- and post-SPOP intervention, which consisted of a therapist presenting auditory-visual stimulus relations to participants. The SPOP intervention resulted in the establishment of tact and listener relations for all participants. The importance of assessing prerequisite skills is considered in the context of previous research.

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18. Sump LA, Mottau BC, LeBlanc LA. Evaluating Behavioral Skills Training to Teach Basic Computer Skills to a Young Adult with Autism. Behav Anal Pract ;2019 (Jun) ;12(2):331-334.

The current study evaluated the effects of behavioral skills training (BST) on acquisition of basic computer skills using Microsoft Word(R), Microsoft Excel(R), and Microsoft PowerPoint(R) by a 15-year-old male diagnosed with autism. A concurrent multiple-baseline design across computer programs (i.e., Word(R), Excel(R), and PowerPoint(R)) was used to evaluate the effects of BST on the acquisition of basic computer skills. BST was successful in teaching the participant to learn basic functions in each of the three programs, and he was able to use the programs to complete schoolwork independently following completion of the study.

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19. Tullis CA, Marya V, Alice Shillingsburg M. Enhancing Instruction via Instructive Feedback for a Child With Autism Using a Speech-Generating Device. Anal Verbal Behav ;2019 (Apr) ;35(1):103-112.

Instructive feedback (IF) is a procedure in which secondary targets are presented to a learner during instruction for primary skills. Previous research has demonstrated that students with autism spectrum disorder (ASD) may acquire at least a portion of skills presented via IF. Although it is a promising instructional methodology for learners with ASD, few studies focus on learners who use an augmentative device for communication purposes. The purpose of the current investigation was to extend the IF literature related to students with ASD who use communication devices. Across all target skills, IF resulted in the acquisition of at least a portion of secondary targets without explicit teaching.

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20. Vedora J, Barry T, Ward-Horner JC. Sample First versus Comparison First Stimulus Presentations : Preliminary Findings for Two Individuals with Autism. Behav Anal Pract ;2019 (Jun) ;12(2):423-429.

The current study was a replication of Petursdottir and Aguilar (Journal of Applied Behavior Analysis, 46, 58-68, 2016). Two different stimulus presentations were evaluated during auditory-visual discrimination training. A sample-first procedure, in which the sample stimulus was presented before the comparison stimuli, was compared to a comparison-first procedure, in which the sample presentation was presented after the comparison stimuli. The results indicated that both participants learned more quickly in the comparison-first condition, a finding that differed from Petursdottir and Aguilar (Journal of Applied Behavior Analysis, 46, 58-68, 2016).

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21. Wiskow KM, Matter AL, Donaldson JM. An evaluation of lag schedules and prompting methods to increase variability of naming category items in children with autism spectrum disorder. Anal Verbal Behav ;2018 (Dec) ;34(1-2):100-123.

A lag schedule of reinforcement is one way to increase response variability ; however, previous research has been mixed with regard to the necessary parameters to increase variability. For some individuals, low schedule requirements (e.g., Lag 1) are sufficient to increase variability. For other individuals, higher lag schedules (e.g., Lag 3) or a lag schedule in combination with prompting is needed to increase variability. We evaluated the efficiency of different within-session progressive lag schedules to increase response variability with 2 children with autism. Results showed that increasing the lag criterion across sessions increased variability to levels similar to beginning with a high lag schedule for one participant. When lag schedules did not increase variability for the second participant, we compared a variety of prompting procedures. Results of the prompting evaluation showed that a tact-priming procedure was effective to increase varied responding.

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22. Yu C, King BH. Focus on Autism and Related Conditions. Focus (Am Psychiatr Publ) ;2016 (Jan) ;14(1):3-8.

Recent advances in genetics and brain imaging have expanded the understanding of autism spectrum disorder as a complex heterogeneous neurodevelopmental disorder in both etiology and symptom severity. Such discoveries have caused changes in diagnostic criteria and are opening new doors for therapeutic options. This article examines the current understanding of autism spectrum disorder. This review includes estimates of prevalence, discussion of etiology, and current and evolving treatments.

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