Pubmed du 26/11/18

lundi 26 novembre 2018

1. Broder-Fingert S, Sheldrick CR, Silverstein M. The Value of State Differences in Autism When Compared to a National Prevalence Estimate. Pediatrics. 2018.

Lien vers le texte intégral (Open Access ou abonnement)

2. Chen H, Wang J, Uddin LQ, Wang X, Guo X, Lu F, Duan X, Wu L, Chen H. Aberrant functional connectivity of neural circuits associated with social and sensorimotor deficits in young children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2018.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by atypical functional integration of brain regions. The vast majority of neuroimaging studies of ASD have focused on older children, adolescents, and adults with the disorder. Very little work has explored whole-brain functional connectivity of young children with ASD. Here, we collected resting-state functional magnetic resonance imaging data from 58 young children (mean age 4.98 years ; 29 with ASD ; 29 matched healthy controls [HC]). All children were under sedation during scanning. A functional "connectedness" method was first used to seek for brain regions showing atypical functional connectivity (FC) in children with ASD. Then, a recurrent-seek strategy was applied to reveal atypical FC circuits in ASD children. FC matrices between regions-of-interest (ROIs) were compared between ASD and HC. Finally, a support vector regression (SVR) method was used to assess the relationship between the FC circuits and ASD symptom severity. Two atypical FC circuits comprising 23 ROIs in ASD were revealed : one predominantly comprised brain regions involved with social cognition showing under-connectivity in ASD ; the other predominantly comprised sensory-motor and visual brain regions showing over-connectivity in ASD. The SVR analysis showed that the two FC circuits were separately related to social deficits and restricted behavior scores. These findings indicate disrupted FC of neural circuits involved in the social and sensorimotor processes in young children with ASD. The finding of the atypical FC patterns in young children with ASD underscores the utility of studying younger children with the disorder, and highlights nuanced patterns of brain connectivity underlying behavior closer to disorder onset. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder. Understanding brain functional alterations at early ages is important for understanding biological mechanisms of ASD. Here, we found two atypical brain functional circuits in young children with ASD that were related to social and sensorimotor function. These results show how atypical patterns of brain functional connectivity in young children with of ASD may underlie core symptoms of the disorder.

Lien vers le texte intégral (Open Access ou abonnement)

3. Gilroy SP, Leader G, McCleery JP. A pilot community-based randomized comparison of speech generating devices and the picture exchange communication system for children diagnosed with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2018.

A pilot community-based randomized controlled trial was conducted to compare the effects of the Picture Exchange Communication System (PECS) to a teaching sequence using a high-tech Speech Generating Device (SGD) to teach social communication behaviors. The two approaches were compared to evaluate the effectiveness of the newer, more high-tech intervention using technology to improve social and communicative behavior of children diagnosed with Autism Spectrum Disorder. A total of 35 school-age children were randomized to either a high-tech (SGD device) or low-tech (PECS cards) form of Augmentative and Alternative Communication (AAC). Study participants received 4 months of communication training delivered in their classrooms, and the primary outcome measures of the trial were several functional communication skills emphasized in the PECS teaching sequence. Results indicated that both high-tech and low-tech AAC approaches resulted in significant improvements in communication, and that these improvements did not differ significantly between the two approaches. These findings support the use of high-tech AAC, and highlight the need for evidence-based guidelines for its use as well as evaluation with individuals with a range impairments and disabilities. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study compared the effectiveness of a free and open-source app for teaching social and communicative behavior to children with autism spectrum disorder (ASD) to traditional picture card approaches. Thirty-five children with ASD were randomized to a picture card or app-based intervention and both treatment approaches resulted in significant improvements in social and communicative behavior. These data indicated that both "high-tech" and "low-tech" interventions were effective for improving behavior and that there was not a significant difference between the two approaches.

Lien vers le texte intégral (Open Access ou abonnement)

4. Kogan MD, Vladutiu CJ, Schieve LA, Ghandour RM, Blumberg SJ, Zablotsky B, Perrin JM, Shattuck P, Kuhlthau KA, Harwood RL, Lu MC. The Prevalence of Parent-Reported Autism Spectrum Disorder Among US Children. Pediatrics. 2018.

 : media-1vid110.1542/5839990273001PEDS-VA_2017-4161Video Abstract OBJECTIVES : To estimate the national prevalence of parent-reported autism spectrum disorder (ASD) diagnosis among US children aged 3 to 17 years as well as their treatment and health care experiences using the 2016 National Survey of Children’s Health (NSCH). METHODS : The 2016 NSCH is a nationally representative survey of 50 212 children focused on the health and well-being of children aged 0 to 17 years. The NSCH collected parent-reported information on whether children ever received an ASD diagnosis by a care provider, current ASD status, health care use, access and challenges, and methods of treatment. We calculated weighted prevalence estimates of ASD, compared health care experiences of children with ASD to other children, and examined factors associated with increased likelihood of medication and behavioral treatment. RESULTS : Parents of an estimated 1.5 million US children aged 3 to 17 years (2.50%) reported that their child had ever received an ASD diagnosis and currently had the condition. Children with parent-reported ASD diagnosis were more likely to have greater health care needs and difficulties accessing health care than children with other emotional or behavioral disorders (attention-deficit/hyperactivity disorder, anxiety, behavioral or conduct problems, depression, developmental delay, Down syndrome, intellectual disability, learning disability, Tourette syndrome) and children without these conditions. Of children with current ASD, 27% were taking medication for ASD-related symptoms, whereas 64% received behavioral treatments in the last 12 months, with variations by sociodemographic characteristics and co-occurring conditions. CONCLUSIONS : The estimated prevalence of US children with a parent-reported ASD diagnosis is now 1 in 40, with rates of ASD-specific treatment usage varying by children’s sociodemographic and co-occurring conditions.

Lien vers le texte intégral (Open Access ou abonnement)

5. Kong HE, Lim J, Zhang F, Huang L, Gu Y, Nelson DL, Allen EG, Jin P. Metabolic pathways modulate the neuronal toxicity associated with Fragile X-Associated Tremor/Ataxia Syndrome. Human molecular genetics. 2018.

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is an adult-onset neurodegenerative disorder that affects premutation carriers (55-200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene. Much remains unknown regarding the metabolic alterations associated with FXTAS, especially in the brain, and the most affected region, the cerebellum. Investigating the metabolic changes in FXTAS will aid in the identification of biomarkers as well as in understanding the pathogenesis of disease. To identify the metabolic alterations associated with FXTAS, we took advantage of our FXTAS mouse model that expresses 90 CGG repeats in cerebellar Purkinje neurons and exhibits the key phenotypic features of FXTAS. We performed untargeted global metabolic profiling of age-matched control and FXTAS mice cerebella at 16-20 weeks and 55 weeks. Out of 506 metabolites measured in cerebellum, we identified 186 metabolites that demonstrate significant perturbations due to the (CGG)90 repeat (p<0.05), and found that these differences increase dramatically with age. To identify key metabolic changes in FXTAS pathogenesis, we performed a genetic screen using a Drosophila model of FXTAS. Out of 28 genes that we tested in the fly, 8 genes showed significant enhanced neuronal toxicity associated with CGG repeats, such as Schlank (Ceramide Synthase), Sk2 (Sphingosine Kinase) and Ras (IMP Dehydrogenase). By combining metabolic profiling with a Drosophila genetic screen to identify genetic modifiers of FXTAS, we demonstrate an effective method for functional validation of high-throughput metabolic data and show that sphingolipid and purine metabolism are significantly perturbed in FXTAS pathogenesis.

Lien vers le texte intégral (Open Access ou abonnement)

6. McVey AJ, Schiltz HK, Haendel AD, Dolan BK, Willar KS, Pleiss SS, Karst JS, Carlson M, Krueger W, Murphy CC, Casnar CL, Yund B, Van Hecke AV. Social difficulties in youth with autism with and without anxiety and ADHD symptoms. Autism research : official journal of the International Society for Autism Research. 2018.

Social difficulties inherent to autism spectrum disorder are often linked with co-occurring symptoms of anxiety and attention deficit hyperactivity disorder (ADHD). The present study sought to examine the relation between such co-occurring symptoms and social challenges. Parents of adolescents with autism (N = 113) reported upon social challenges via the social responsiveness scale (SRS) and anxiety and ADHD symptomatology via the Child Behavior Checklist. Results revealed differences in SRS scores across co-occurring symptom subgroups (Anxiety, ADHD, Both, Neither)-namely, adolescents with autism and anxiety as well as those with autism, anxiety, and ADHD showed greater scores on the SRS than the other groups. Implications for research and clinical practice are discussed and recommendations are offered. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Anxiety and attention deficit hyperactivity disorder (ADHD) symptoms are related to greater social challenges for adolescents with autism spectrum disorder. The present study found that autism with anxiety and autism with anxiety and ADHD, was related to greater social difficulties than autism alone. Findings provide further support for the intertwined nature of anxiety and ADHD symptoms in autism. What this may mean for research and clinical practice is considered and recommendations are suggested.

Lien vers le texte intégral (Open Access ou abonnement)

7. Myers E, Stone WL, Bernier R, Lendvay T, Comstock B, Cowan C. The diagnosis conundrum : Comparison of crowdsourced and expert assessments of toddlers with high and low risk of autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2018.

As the diagnosis and treatment of Autism Spectrum Disorder (ASD) becomes a greater public health concern, access to professionals and expert assessment becomes increasingly more challenging. Novel techniques to improve efficiency of assessment of young children with social communication concerns are desperately needed to address significant barriers to accessing diagnostic evaluations. Utilizing crowdsourcing technology, we compared ratings by experts and crowdworkers of social communication behaviors in videos of 18-month-old children. Of note, 563 crowdworkers and 24 expert responses were collected in approximately 7 hr and 57 days, respectively. Summed scores of social communication behaviors observed by crowdworkers showed high correlation to those of experts. These data introduce a novel and perhaps efficient way in which to examine of social communication impairments in toddlers. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This research compared crowdsourced assessments of social communication behaviors to assessments by experts, for toddlers whose behaviors ranged in severity from typical to atypical. Results showed that crowdsourced rankings of social communication behavior significantly correlate with those of experts.

Lien vers le texte intégral (Open Access ou abonnement)

8. Pacault M, Nizon M, Pichon O, Vincent M, Le Caignec C, Isidor B. A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability. European journal of medical genetics. 2018.

Autistic spectrum disorders are complex neurodevelopmental syndromes characterized by phenotypic and genetic heterogeneity. Further identification of causal genes may help in better understanding the underlying mechanisms of the disorder, thus improving the patients’ management. To date, abnormal synaptogenesis is thought to be one of the major underlying causes of autistic spectrum disorders. Here, using oligoarray-based comparative genomic hybridization, we identified a de novo deletion at 2q37.2 locus spanning 1Mb and encompassing AGAP1 and SH3BP4, in a boy with autism and intellectual disability. Both genes have been described as being involved in endosomal trafficking, and AGAP1 in particular has been shown to be expressed in the developing brain and to play a role in dendritic spine formation and synapse function, making it a potential causative gene to our patient’s phenotype.

Lien vers le texte intégral (Open Access ou abonnement)

9. Pearson N, Charman T, Happe F, Bolton PF, McEwen FS. Regression in autism spectrum disorder : Reconciling findings from retrospective and prospective research. Autism research : official journal of the International Society for Autism Research. 2018.

The way in which the behavioral manifestations of autism spectrum disorder (ASD) emerge in infancy is variable. Regression-loss of previously acquired skills-occurs in a subset of children. However, the etiology and significance of regression remains unclear. Until recently, investigation of regression relied on retrospective report by parents or examination of home videos from early in life. However, home videos and retrospective report of the nature and timing of regression, and association with factors such as illness or immunization, is potentially subject to bias. The advent of prospective studies of infant siblings at familial high-risk of ASD has the potential to document regression as it occurs. Recent research has suggested that subtle loss of skills occurs in a larger proportion of children with ASD than previously assumed ; however, there are few reports of clear-cut regressions, such as that involving dramatic loss of language and other established skills, in the prospective literature. This could be because of the following : clear-cut regression occurs less commonly than parent report suggests, study design limits the potential to detect regression, or there are differences between multiplex and simplex families in the rate of de novo genetic mutations and therefore regression risk. This review will bring together literature from retrospective and prospective research and attempt to reconcile diverging findings, with a specific focus on methodological issues. Changing conceptualizations of regression will be discussed, as well as etiological factors that may be associated with regression. The main challenges that need to be addressed to measure regression in prospective studies will be set out. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Regression-a loss of previously established skills-occurs in a subset of children with ASD. Parental recall is not always accurate but studying younger siblings of children with ASD, 10-20% of whom will develop ASD, should make it possible to measure regression as it occurs. Clear-cut regression, like loss of language, has not often been reported in infant sibling studies, but recent research suggests that gradual loss of social engagement might be more common. This review looks at the evidence for regression from infant sibling studies and asks how study design affects the likelihood of capturing regression.

Lien vers le texte intégral (Open Access ou abonnement)

10. Rodocanachi Roidi ML, Isaias IU, Cozzi F, Grange F, Scotti FM, Gestra VF, Gandini A, Ripamonti E. Motor function in Rett syndrome : comparing clinical and parental assessments. Developmental medicine and child neurology. 2018.

AIM : To describe a new clinical tool, the Rett Syndrome Motor Evaluation Scale (RESMES) and to assess (loco-)motor function in people with Rett syndrome (RTT). METHOD : Formal assessment provided by physicians was followed by parents’ direct observation at home using the RESMES. Sixty females (mean [SD] age 12y 5mo [8y 9mo], range 3-40y) with a clinical diagnosis and genetically determined RTT participated in the study. Spearman’s/Pearson’s coefficients assessed the correlation between the clinicians’ and caregivers’ evaluations, as well as the correlation of RESMES scores with other scales, namely the Pain Assessment in Advanced Dementia, the Rett Assessment Rating Scale, the Modified Ashworth Scale, and hand function (assessed with a scale of evaluation of purposeful hand function). Scores provided by parents and clinicians were tested statistically by Mann-Whitney U test. RESULTS : Approximately 88% of patients had moderate to severe RTT symptoms and, on average, moderate motor impairment based on the RESMES. RESMES total scores provided by clinicians and caregivers were highly correlated (r=0.91), as were the subscale scores. Postural transition was a critical area of the RESMES, where parents systematically provided lower scores than clinicians, indicating milder degrees of disability. Severity of scoliosis and mutation type emerged as significant predictors of motor function. INTERPRETATION : The RESMES characterized the (loco-)motor impairments of the patients with RTT well. It also showed a close correlation between the evaluations of clinicians and caregivers, with the possible exception of postural transition tasks, which should be carefully addressed in a clinical setting. The type of mutation and presence of scoliosis should be evaluated, as they predicted the ability to walk. WHAT THIS PAPER ADDS : Caregivers at home can reliably assess motor function in Rett syndrome using the Rett Syndrome Motor Evaluation Scale (RESMES). RESMES scores provided by clinicians and parents were highly correlated. The severity of scoliosis and the genetic mutation predicted standing and walking abilities.

Lien vers le texte intégral (Open Access ou abonnement)

11. Sabourin KR, Reynolds A, Schendel D, Rosenberg S, Croen LA, Pinto-Martin JA, Schieve LA, Newschaffer C, Lee LC, DiGuiseppi C. Infections in children with autism spectrum disorder : Study to Explore Early Development (SEED). Autism research : official journal of the International Society for Autism Research. 2018.

Immune system abnormalities have been widely reported among children with autism spectrum disorder (ASD), which may increase the risk of childhood infections. The Study to Explore Early Development (SEED) is a multisite case-control study of children aged 30-69 months, born in 2003-2006. Cases are children previously diagnosed and newly identified with ASD enrolled from education and clinical settings. Children with a previously diagnosed non-ASD developmental condition were included in the developmental delay/disorder (DD) control group. The population (POP) control group included children randomly sampled from birth certificates. Clinical illness from infection during the first 28 days ("neonatal," from medical records) and first three years of life (caregiver report) in cases was compared to DD and POP controls ; and between cases with and without regression. Children with ASD had greater odds of neonatal (OR = 1.8 ; 95%CI : 1.1, 2.9) and early childhood infection (OR = 1.7 ; 95%CI : 1.5, 1.9) compared to POP children, and greater odds of neonatal infection (OR = 1.5 ; 95%CI : 1.1, 2.0) compared to DD children. Cases with regression had 1.6 times the odds (95%CI : 1.1, 2.3) of caregiver-reported infection during the first year of life compared to cases without regression, but neonatal infection risk and overall early childhood infection risk did not differ. Our results support the hypothesis that children with ASD are more likely to have infection early in life compared to the general population and to children with other developmental conditions. Future studies should examine the contributions of different causes, timing, frequency, and severity of infection to ASD risk. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : We looked at infections during early childhood in relation to autism spectrum disorder (ASD). We found that children with ASD were more likely to have an infection in the first 28 days of life and before age three compared to children with typical development. Children with ASD were also more likely than children with other developmental delays or disorders to have an infection in the first 28 days of life.

Lien vers le texte intégral (Open Access ou abonnement)

12. Schiltz HK, McVey AJ, Barrington A, Haendel AD, Dolan BK, Willar KS, Pleiss S, Karst JS, Vogt E, Murphy CC, Gonring K, Van Hecke AV. Behavioral inhibition and activation as a modifier process in autism spectrum disorder : Examination of self-reported BIS/BAS and alpha EEG asymmetry. Autism research : official journal of the International Society for Autism Research. 2018.

The Modifier Model of autism spectrum disorder (ASD) suggests that phenotypic variability within ASD is rooted in modifier processes, such as the behavioral inhibition system (BIS) and behavioral activation system (BAS). Among a sample of 53 adolescents with ASD, this study examined associations between (a) self-reported BIS/BAS and frontal and parietal alpha electroencephalogram asymmetry and whether these indices related to (b) ASD severity (via the Autism Quotient), and/or (c) co-occurring anxiety and attention-deficit hyperactivity disorder (via Youth Self Report and Child Behavior Checklist). Findings showed that alpha asymmetry was associated with self-reported BAS scores, such that greater BAS was related to greater right-frontal hemisphere activation and relatively greater left-parietal hemisphere activation. Additionally, associations emerged between ASD severity and self-reported BAS and alpha asymmetry, and between anxiety symptoms and self-reported BIS and alpha asymmetry. Furthermore, mediation analyses revealed that BAS mediated the association between asymmetry and autism severity. Therefore, alpha asymmetry and BIS/BAS activity may provide insight into how ASD presents in adolescence as well as who might be at greater risk for developing co-occurring psychopathologies. This study highlights the importance of considering motivational systems to elucidate individual differences among youth with ASD and working toward the longer term goal of better understanding differential responses to treatment. Autism Research 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Differences in the likelihood to avoid (behavioral inhibition system ; BIS) or approach (behavioral activation system ; BAS) situations are thought to relate to patterns of brain activity (via electroencephalogram asymmetry asymmetry). This study revealed that these tendencies may influence the presentation of autism spectrum disorder (ASD) and symptoms of anxiety in adolescents with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

13. Venker CE, Bean A, Kover ST. Auditory-visual misalignment : A theoretical perspective on vocabulary delays in children with ASD. Autism research : official journal of the International Society for Autism Research. 2018.

In this commentary, we describe a novel theoretical perspective on vocabulary delays in children with autism spectrum disorder (ASD)-a perspective we refer to as auditory-visual misalignment. We synthesize empirical evidence that : (a) as a result of differences in both social and nonsocial visual attention, the auditory-visual statistics available to children with ASD for early word learning are misaligned ; (b) this auditory-visual misalignment disrupts word learning and contributes to the vocabulary delays shown by children with ASD ; and (c) adopting a perspective of auditory-visual misalignment has important theoretical and clinical implications for understanding and supporting vocabulary development in children with ASD. Theoretically, the auditory-visual misalignment perspective advances our understanding of how attentional differences impact vocabulary development in children with ASD in several ways. By adopting the point of view of the child, we provide a framework that brings together research on social and domain-general visual attention differences in children with ASD. In addition, the auditory-visual misalignment perspective moves current thinking beyond how misalignment disrupts vocabulary development in the moment, and considers the likely consequences of misalignment over developmental time. Finally, considering auditory-visual misalignment may assist in identifying active ingredients of existing language interventions or in developing new interventions that deliver high quality, aligned input. Future research is needed to determine how manipulating auditory-visual alignment changes word learning in ASD and whether the effects of auditory-visual misalignment are unique to ASD or shared with other neurodevelopmental disorders or sources of language impairment. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This article describes a new way of thinking about vocabulary delays in children with autism spectrum disorder (ASD). We suggest that children with ASD may have difficulty learning words because their attention is not tuned in to what is most important for learning, creating a mismatch between what they see and what they hear. This perspective brings together research on different types of attentional differences in people with ASD. It may also help us to understand how language interventions work.

Lien vers le texte intégral (Open Access ou abonnement)


Annonces

Accès direct au catalogue en ligne !

Vous pouvez accéder directement au catalogue en ligne du centre de documentation du CRA Rhône-Alpes en cliquant sur l’image ci-dessous :

Cliquez pour consulter le catalogue


Formations pour les Familles et les Proches

le détail des programmes de formation à l’attention des familles et des proches de personnes avec TSA est disponible en cliquant sur l’image ci-dessous.

Formation pour les Aidants Familiaux {JPEG}


Sensibilisation à l’usage des tablettes au CRA !

Toutes les informations concernant les sensibilisations du CRA aux tablettes numériques en cliquant sur l’image ci-dessous :


1-Formation à l’état des connaissances de l’autisme

Plus d’information sur la formation gratuite que dispense le CRA en cliquant sur l’image ci-dessous :

Formation à l'état des connaissances de l'autisme {JPEG}


4-Livret Autisme Rhône-Alpes® (LARA) - Message à l’attention des directeurs

Prenez connaissance du Livret Autisme Rhône-Alpes, projet de répertoire régional des structures médico-sociales. En cliquant sur l’image ci-dessous :

Cliquez sur l'image pour découvrir le Livret LARA