Pubmed du 27/02/19

Pubmed du jour

2019-02-27 12:03:50

1. Abrams DA, Padmanabhan A, Chen T, Odriozola P, Baker AE, Kochalka J, Phillips JM, Menon V. {{Impaired voice processing in reward and salience circuits predicts social communication in children with autism}}. {Elife};2019 (Feb 26);8

Engaging with vocal sounds is critical for children’s social-emotional learning, and children with autism spectrum disorder (ASD) often ‘tune out’ voices in their environment. Little is known regarding the neurobiological basis of voice processing and its link to social impairments in ASD. Here, we perform the first comprehensive brain network analysis of voice processing in children with ASD. We examined neural responses elicited by unfamiliar voices and mother’s voice, a biologically salient voice for social learning, and identified a striking relationship between social communication abilities in children with ASD and activation in key structures of reward and salience processing regions. Functional connectivity between voice-selective and reward regions during voice processing predicted social communication in children with ASD and distinguished them from typically developing children. Results support the Social Motivation Theory of ASD by showing reward system deficits associated with the processing of a critical social stimulus, mother’s voice, in children with ASD. Editorial note: This article has been through an editorial process in which the authors decide how to respond to the issues raised during peer review. The Reviewing Editor’s assessment is that minor issues remain unresolved (see decision letter).

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2. Carlone G, Trombetta A, Amoroso S, Poropat F, Barbi E, Cozzi G. {{Intramuscular Dexmedetomidine, a Feasible Option for Children With Autism Spectrum Disorders Needing Urgent Procedural Sedation}}. {Pediatr Emerg Care};2019 (Feb 19)

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3. Carnett A, Ingvarsson ET. {{Teaching a Child with Autism to Mand for Answers to Questions Using a Speech-Generating Device}}. {Anal Verbal Behav};2016 (Oct);32(2):233-241.

The current study systematically replicates and extends the findings of Ingvarsson and Hollobaugh (2010) by teaching a boy with autism who used a speech-generating device to mand for answers to unknown questions. The effects of the intervention were evaluated via a multiple baseline across stimulus sets. The intervention resulted in acquisition of both the mand for information and intraverbal responses (i.e., correct answers to previously unknown questions). However, generalization of the mand for information was limited.

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4. de Verdier K, Fernell E, Ek U. {{Blindness and Autism: Parents’ Perspectives on Diagnostic Challenges, Support Needs and Support Provision}}. {J Autism Dev Disord};2019 (Feb 27)

Autism spectrum disorder (ASD), with or without intellectual disability (ID), is common in children with congenital blindness. This complex combination of disabilities often involves many challenges for the family. This study explored parents’ experiences of having a child with blindness and ASD (with or without ID), their support needs and experiences of the support provided. Interviews with eight parents, representing six families, were performed. The parents emphasized that assessment and diagnostic procedures must be performed by professionals with expertise in blind children’s development, and ASD. The support was often perceived as fragmented and did not correspond to the families’ needs. The results suggest that national guidelines should be produced, to ensure a more coordinated and tailored support to these families.

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5. Duvall SW, Huang-Storms L, Presmanes Hill A, Myers J, Fombonne E. {{No Sex Differences in Cognitive Ability in Young Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Feb 27)

Inconsistent findings regarding sex differences in cognition have been found in people with autism spectrum disorder (ASD). This study evaluated sex differences in cognitive-developmental functioning in a large clinical sample of young children diagnosed with ASD. The sample included children 18-68 months of age who received the Mullen Scales of Early Learning (MSEL) through Autism Treatment Network (ATN) sites from 2007 to 2013 (N = 1587, 16.7% female). In this large clinically referred sample of young children with ASD in the United States, no significant differences were found between the sexes for the MSEL Early Learning Composite (ELC) standard score, domain T Scores or age equivalents. These findings persisted when examining different age ranges, cognitive levels and domain profiles.

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6. Fontil L, Gittens J, Beaudoin E, Sladeczek IE. {{Barriers to and Facilitators of Successful Early School Transitions for Children with Autism Spectrum Disorders and Other Developmental Disabilities: A Systematic Review}}. {J Autism Dev Disord};2019 (Feb 26)

Early school transitions are exciting, yet challenging, experiences for children with special needs, such as autism spectrum disorder (ASD), and their families. Transition to school support practices can help facilitate this difficult process for key stakeholders. The purpose of this systematic review was to synthesize the literature on transition to kindergarten support practice use for children with ASD and other developmental disabilities. Qualitative and quantitative studies were analyzed using textual narrative synthesis, following the guidelines from the Centre for Reviews and Dissemination. Overall, 39 individual studies were included. Results highlighted particular parent, child, and support staff needs during the transition to school, while also emphasizing the importance of collaborative practices in facilitating successful school beginnings.

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7. Holiga S, Hipp JF, Chatham CH, Garces P, Spooren W, D’Ardhuy XL, Bertolino A, Bouquet C, Buitelaar JK, Bours C, Rausch A, Oldehinkel M, Bouvard M, Amestoy A, Caralp M, Gueguen S, Ly-Le Moal M, Houenou J, Beckmann CF, Loth E, Murphy D, Charman T, Tillmann J, Laidi C, Delorme R, Beggiato A, Gaman A, Scheid I, Leboyer M, d’Albis MA, Sevigny J, Czech C, Bolognani F, Honey GD, Dukart J. {{Patients with autism spectrum disorders display reproducible functional connectivity alterations}}. {Sci Transl Med};2019 (Feb 27);11(481)

Despite the high clinical burden, little is known about pathophysiology underlying autism spectrum disorder (ASD). Recent resting-state functional magnetic resonance imaging (rs-fMRI) studies have found atypical synchronization of brain activity in ASD. However, no consensus has been reached on the nature and clinical relevance of these alterations. Here, we addressed these questions in four large ASD cohorts. Using rs-fMRI, we identified functional connectivity alterations associated with ASD. We tested for associations of these imaging phenotypes with clinical and demographic factors such as age, sex, medication status, and clinical symptom severity. Our results showed reproducible patterns of ASD-associated functional hyper- and hypoconnectivity. Hypoconnectivity was primarily restricted to sensory-motor regions, whereas hyperconnectivity hubs were predominately located in prefrontal and parietal cortices. Shifts in cortico-cortical between-network connectivity from outside to within the identified regions were shown to be a key driver of these abnormalities. This reproducible pathophysiological phenotype was partially associated with core ASD symptoms related to communication and daily living skills and was not affected by age, sex, or medication status. Although the large effect sizes in standardized cohorts are encouraging with respect to potential application as a treatment and for patient stratification, the moderate link to clinical symptoms and the large overlap with healthy controls currently limit the usability of identified alterations as diagnostic or efficacy readout.

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8. Ingvarsson ET, Kramer RL, Carp CL, Petursdottir AI, Macias H. {{Evaluation of a Blocked-Trials Procedure to Establish Complex Stimulus Control over Intraverbal Responses in Children with Autism}}. {Anal Verbal Behav};2016 (Oct);32(2):205-224.

We evaluated the use of a blocked-trials procedure to establish complex stimulus control over intraverbal responses. The participants were four young boys with a diagnosis of autism who had struggled to master intraverbals. The blocked-trials procedures involved presentation of stimuli in separate trial blocks. The trial blocks gradually reduced in size contingent upon correct responding, until the stimuli were presented in quasi-random order. All participants acquired multiple discriminations with the blocked-trials procedure, although additional procedures were needed to teach the first discrimination with two participants. Following acquisition of multiple discriminations, two participants acquired a novel discrimination with quasi-random presentation of stimuli, and a third participant demonstrated discriminated responding in intraverbal probes.

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9. Jalnapurkar I, Cochran DM, Frazier JA. {{New Therapeutic Options for Fragile X Syndrome}}. {Curr Treat Options Neurol};2019 (Feb 27);21(3):12.

PURPOSE OF REVIEW: The purpose of this review is to provide an overview of current research and clinical practice guidelines in fragile X syndrome (FXS) with regard to therapeutic approaches in the management of this condition. The authors summarize and discuss findings from relevant preclinical studies and results from clinical trials in human subjects with FXS. Additionally, we provide an outline of the basic framework for understanding and providing educational and psychosocial supports for these individuals. RECENT FINDINGS: Current treatments in FXS are largely symptom based and focused on managing associated psychiatric and behavioral co-morbidities. While data from animal studies has been promising in providing targeted treatments to correct the underlying deficits at the cellular level, there have not been as robust findings in human trials. There are several targeted treatments for FXS currently under development. Individuals with FXS present with several behavioral challenges including anxiety, social withdrawal, ADHD, hyperarousal, self-injury, and aggression. Therapeutic services are often necessary, such as behavioral intervention, speech and language therapy, occupational therapy, and individualized educational support; adjunctive psychopharmacologic treatment is often helpful as well. It is important to address these symptoms and weigh the evidence for the use of medications that target the underlying neurobiology and pathophysiology of the syndrome.

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10. Lewis AS, van Schalkwyk GI. {{Systematic Review: Distribution of Age and Intervention Modalities in Therapeutic Clinical Trials for Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Feb 27)

The prevalence of ASD remains relatively stable across the lifespan, necessitating a quantitative understanding of how intervention clinical research is applied across age groups. Here we report a systematic review of treatment studies between 2013 and 2017, enrolling 11,213 subjects with ASD in 218 studies. Individuals under 18 years old constituted the majority of studies (84%) and subjects (92%). Subjects under 18 years old were more likely to be enrolled in behavioral studies (OR (CI) = 1.34 (1.17-1.54)), and less likely to be enrolled in pharmacological (OR = 0.60 (0.52-0.69)) studies than subjects >/= 18 years old. Identified disparities in both intervention modalities and outcome measures should serve to guide future research priorities.

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11. Mathew JL. {{Is Autism Spectrum Disorder in Early Childhood Related to Antenatal Exposure to Air Pollution?: Evidence-based Medicine Viewpoint}}. {Indian Pediatr};2019 (Jan 15);56(1):63-65.

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12. Mayor S. {{Prenatal vitamins in early pregnancy may lower risk of autism in high risk families}}. {Bmj};2019 (Feb 27);364:l916.

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13. Perihan C, Burke M, Bowman-Perrott L, Bicer A, Gallup J, Thompson J, Sallese M. {{Effects of Cognitive Behavioral Therapy for Reducing Anxiety in Children with High Functioning ASD: A Systematic Review and Meta-Analysis}}. {J Autism Dev Disord};2019 (Feb 27)

Children with autism spectrum disorder (ASD) are at greater risk for experiencing high levels of anxiety symptoms. Recent evidence suggests Cognitive behavioral therapy (CBT) may also be effective for anxiety reduction in some presentations of ASD. This meta-analysis evaluated twenty-three studies. Results yielded a moderate effect size (g = – 0.66) for the reduction of anxiety symptoms. Moderators indicated larger effects for studies were achieved with parental involvement (g = – 0.85, p < .05) than with child-only treatments (g = - 0.34, p < .05). Short-term interventions generated a smaller effect (g = - 0.37 p < .05) than either standard-term (g = - 1.02, p < .05) or long-term interventions (g = - 0.69, p < .05).Implications for children with ASD are discussed. Lien vers le texte intégral (Open Access ou abonnement)

14. Peters WJ, Matson JL. {{Comparing Rates of Diagnosis Using DSM-IV-TR Versus DSM-5 Criteria for Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Feb 27)

With the publication of DSM-5, many changes were introduced regarding how Autism Spectrum Disorder (ASD) would be diagnosed. Changes from DSM-IV-TR were controversial, with many arguing that individuals would lose their diagnosis with the new criteria. The purpose of this study was to examine differences in the application of diagnostic criteria across both recent versions in a sample of infants and toddlers. Fewer individuals met criteria according to DSM-5; however, a larger proportion of individuals met criteria for both. Additionally, individuals with higher levels of symptoms were more likely to meet criteria for both versions as compared to either alone. Overall, results suggest that there are meaningful differences in how DSM criteria may apply to individuals with an ASD.

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15. Schmidt RJ, Iosif AM, Guerrero Angel E, Ozonoff S. {{Association of Maternal Prenatal Vitamin Use With Risk for Autism Spectrum Disorder Recurrence in Young Siblings}}. {JAMA Psychiatry};2019 (Feb 27)

Importance: Maternal use of folic acid supplements has been inconsistently associated with reduced risk for autism spectrum disorder (ASD) in the child. No study to date has examined this association in the context of ASD recurrence in high-risk families. Objective: To examine the association between maternal prenatal vitamin use and ASD recurrence risk in younger siblings of children with ASD. Design, Setting, and Participants: This prospective cohort study analyzed data from a sample of children (n = 332) and their mothers (n = 305) enrolled in the MARBLES (Markers of Autism Risk in Babies: Learning Early Signs) study. Participants in the MARBLES study were recruited at the MIND Institute of the University of California, Davis and were primarily from families receiving services for children with ASD in the California Department of Developmental Services. In this sample, the younger siblings at high risk for ASD were born between December 1, 2006, and June 30, 2015, and completed a final clinical assessment within 6 months of their third birthday. Prenatal vitamin use during pregnancy was reported by mothers during telephone interviews. Data analysis for this study was conducted from January 1, 2017, to December 3, 2018. Main Outcomes and Measures: Autism spectrum disorder, other nontypical development (non-TD), and typical development (TD) were algorithmically defined according to Autism Diagnostic Observation Schedule and Mullen Scales of Early Learning subscale scores. Results: After exclusions, the final sample comprised 241 younger siblings, of which 140 (58.1%) were male and 101 (41.9%) were female, with a mean (SD) age of 36.5 (1.6) months. Most mothers (231 [95.9%]) reported taking prenatal vitamins during pregnancy, but only 87 mothers (36.1%) met the recommendations to take prenatal vitamins in the 6 months before pregnancy. The prevalence of ASD was 14.1% (18) in children whose mothers took prenatal vitamins in the first month of pregnancy compared with 32.7% (37) in children whose mothers did not take prenatal vitamins during that time. Children whose mothers reported taking prenatal vitamins during the first month of pregnancy were less likely to receive an ASD diagnosis (adjusted relative risk [RR], 0.50; 95% CI, 0.30-0.81) but not a non-TD 36-month outcome (adjusted RR, 1.14; 95% CI, 0.75-1.75) compared with children whose mothers reported not taking prenatal vitamins. Children in the former maternal prenatal vitamin group also had statistically significantly lower autism symptom severity (adjusted estimated difference, -0.60; 95% CI, -0.97 to -0.23) and higher cognitive scores (adjusted estimated difference, 7.1; 95% CI, 1.2-13.1). Conclusions and Relevance: Maternal prenatal vitamin intake during the first month of pregnancy may reduce ASD recurrence in siblings of children with ASD in high-risk families. Additional research is needed to confirm these results; to investigate dose thresholds, contributing nutrients, and biologic mechanisms of prenatal vitamins; and to inform public health recommendations for ASD prevention in affected families.

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16. Sharma A. {{Is Autism Spectrum Disorder in Early Childhood Related to Antenatal Exposure to Air Pollution?: Environmental Health Viewpoint}}. {Indian Pediatr};2019 (Jan 15);56(1):65-66.

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17. Underwood JFG, Kendall KM, Berrett J, Lewis C, Anney R, van den Bree MBM, Hall J. {{Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort}}. {Br J Psychiatry};2019 (Feb 26):1-7.

BACKGROUND: The past decade has seen the development of services for adults presenting with symptoms of autism spectrum disorder (ASD) in the UK. Compared with children, little is known about the phenotypic and genetic characteristics of these patients.AimsThis e-cohort study aimed to examine the phenotypic and genetic characteristics of a clinically presenting sample of adults diagnosed with ASD by specialist services. METHOD: Individuals diagnosed with ASD as adults were recruited by the National Centre for Mental Health and completed self-report questionnaires, interviews and provided DNA; 105 eligible individuals were matched to 76 healthy controls. We investigated demographics, social history and comorbid psychiatric and physical disorders. Samples were genotyped, copy number variants (CNVs) were called and polygenic risk scores were calculated. RESULTS: Of individuals with ASD, 89.5% had at least one comorbid psychiatric diagnosis, with depression (62.9%) and anxiety (55.2%) being the most common. The ASD group experienced more neurological comorbidities than controls, particularly migraine headache. They were less likely to have married or be in work, and had more alcohol-related problems. There was a significantly higher load of autism common genetic variants in the adult ASD group compared with controls, but there was no difference in the rate of rare CNVs. CONCLUSIONS: This study provides important information about psychiatric comorbidity in adult ASD, which may inform clinical practice and patient counselling. It also suggests that the polygenic load of common ASD-associated variants may be important in conferring risk within the non-intellectually disabled population of adults with ASD.Declaration of interestNone.

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18. Wymer SC, Tarbox J, Beavers GA, Tullis CA. {{Teaching Children with Autism to Follow Rules Specifying a Behavior and Consequence}}. {Anal Verbal Behav};2016 (Oct);32(2):265-274.

Rule-governed behavior (RGB) results from contact with a verbal description of a contingency as opposed to prior contact with that contingency. Despite its importance, research on the establishment of RGB with learners who do not display the skill is limited. Tarbox, Zuckerman, Bishop, Olive, and O’Hora (The Analysis of Verbal Behavior, 27, 125-139, 2011) used multiple-exemplar training (MET) to teach children with autism spectrum disorder to follow rules specifying an antecedent and a behavior. We conducted a systematic replication of the Tarbox et al. study with three boys diagnosed with autism spectrum disorder and extended those methods to rules specifying a behavior and either a preferred or nonpreferred consequence (e.g., « If you clap, then you get candy »). In baseline, participants typically followed a given instruction regardless of whether the consequence was preferred or nonpreferred. Following MET, all participants responded accurately to novel rules, indicating that MET may be an effective method to establish basic RGB repertoires.

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