L'effet conjugué de l'exposition à la pollution atmosphérique et la variation du nombre de copies sur le risque d'autisme.

Aperçu: G.M.

Le trouble du spectre de l'autisme est un trait complexe avec un haut degré d'héritabilité ainsi qu'une susceptibilité par des facteurs environnementaux. 

L'étude n'a mis en évidence aucune corrélation entre l'exposition moyenne à la pollution atmosphérique de la conception à l'âge de 2 ans et le fardeau de la CNV (variation du nombre de copie)  de l'enfant. 

Il a été observé une interaction significative dans laquelle une augmentation du taux de duplication associé à une augmentation de 1SD de l'exposition à l'ozone était associée à un risque élevé d'autisme beaucoup plus élevé que les risques accrus associés à la duplication génomique ou de l'ozone seul.

Autism Res. 2017 Apr 27. doi: 10.1002/aur.1799.

The joint effect of air pollution exposure and copy number variation on risk for autism

Kim D^1,2, Volk H³, Girirajan S¹, Pendergrass S², Hall MA¹, Verma SS², Schmidt RJ^4,5, Hansen RL^5,6, Ghosh D⁷, Ludena-Rodriguez Y⁴, Kim K, Ritchie MD^1,2, Hertz-Picciotto I^4,5, Selleck SB¹.

Author information

1

Department of Biochemistry & Molecular Biology, The Pennsylvania State University, University Park, PA, 16802.

2

Biomedical & Translational Informatics Institute, Geisinger Health System, Danville, PA, 17822.

3

Department of Mental Health, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, 21205.

4

Department of Public Health Sciences, University of California, Davis, Davis, CA.

5

The MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA.

6

Department of Pediatrics, Davis School of Medicine, University of California, Sacramento, CA, 95817.

7

Department of Biostatistics and Informatics, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045.

Abstract

Autism spectrum disorder is a complex trait with a high degree of heritability as well as documented susceptibility from environmental factors. In this study the contributions of copy number variation, exposure to air pollutants, and the interaction between the two on autism risk, were evaluated in the population-based case-control Childhood Autism Risks from Genetics and Environment (CHARGE) Study. For the current investigation, we included only those CHARGE children (a) who met criteria for autism or typical development and (b) for whom our team had conducted both genetic evaluation of copy number burden and determination of environmental air pollution exposures based on mapping addresses from the pregnancy and early childhood. This sample consisted of 158 cases of children with autism and 147 controls with typical development. Multiple logistic regression models were fit with and without environmental variable-copy number burden interactions. We found no correlation between average air pollution exposure from conception to age 2 years and the child's CNV burden. We found a significant interaction in which a 1SD increase in duplication burden combined with a 1SD increase in ozone exposure was associated with an elevated autism risk (OR 3.4, P < 0.005) much greater than the increased risks associated with either genomic duplication (OR 1.85, 95% CI 1.25-2.73) or ozone (OR 1.20, 95% CI 0.93-1.54) alone. Similar results were obtained when CNV and ozone were dichotomized to compare those in the top quartile relative to those having a smaller CNV burden and lower exposure to ozone, and when exposures were assessed separately for pregnancy, the first year of life, and the second year of life. No interactions were observed for other air pollutants, even those that demonstrated main effects; ozone tends to be negatively correlated with the other pollutants examined. While earlier work has demonstrated interactions between the presence of a pathogenic CNV and an environmental exposure [Webb et al., 2016], these findings appear to be the first indication that global copy number variation may increase susceptibility to certain environmental factors, and underscore the need to consider both genomics and environmental exposures as well as the mechanisms by which each may amplify the risks for autism associated with the other. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

© 2017 International Society for Autism Research, Wiley Periodicals, Inc.

PMID: 28448694

DOI: 10.1002/aur.1799

Autisme: trop désireux d'apprendre? Résultats sur les potentiels liés à l'événement de la dépendance accrue sur l'apprentissage intentionnel dans une tâche de temps de réaction en série

Aperçu: G.M.

Il a été suggéré que les personnes avec un diagnostic de trouble du spectre de l'autisme (TSA) ont une tendance accrue à utiliser des stratégies d'apprentissage explicites (ou intentionnelles). Cet apprentissage modifié peut jouer un rôle dans le développement des difficultés de communication sociale caractérisant les TSA.  les chercheurs ont évalué l'apprentissage de séquences accidentelles et intentionnelles en utilisant une tâche de temps de réaction en série (SRT) dans une population adulte avec un diagnostic de TSA.  

Les résultats suggèrent que  l'apprentissage dans le groupe TD (développement typique) pourrait être de nature plus incidente, alors que l'apprentissage dans le groupe TSA est plus intentionnel ou demande plus d'effort.

Autism Res. 2017 Apr 27. doi: 10.1002/aur.1802.

Autism: Too eager to learn? Event related potential findings of increased dependency on intentional learning in a serial reaction time task

Zwart FS¹, Vissers CWTM^2,3, van der Meij R⁴, Kessels RPC^1,5,6, Maes JHR¹.

Author information

1

Centre for Cognition, Brain Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.

2

Learning and Plasticity Institute, Nijmegen, The Netherlands.

3

Kentalis Academy, Kentalis, Sint-Michielsgestel, The Netherlands.

4

University of California, San Diego, La Jolla, California.

5

Department of Medical Psychology, Radboud University Medical Center, Nijmegen, The Netherlands.

6

Centre of Excellence for Korsakoff and Alcohol-Related Cognitive Disorders Institute for Psychiatry, Venray, The Netherlands.

Abstract

It has been suggested that people with autism spectrum disorder (ASD) have an increased tendency to use explicit (or intentional) learning strategies. This altered learning may play a role in the development of the social communication difficulties characterizing ASD. In the current study, we investigated incidental and intentional sequence learning using a Serial Reaction Time (SRT) task in an adult ASD population. Response times and event related potentials (ERP) components (N2b and P3) were assessed as indicators of learning and knowledge. Findings showed that behaviorally, sequence learning and ensuing explicit knowledge were similar in ASD and typically developing (TD) controls. However, ERP findings showed that learning in the TD group was characterized by an enhanced N2b, while learning in the ASD group was characterized by an enhanced P3. These findings suggest that learning in the TD group might be more incidental in nature, whereas learning in the ASD group is more intentional or effortful. Increased intentional learning might serve as a strategy for individuals with ASD to control an overwhelming environment. Although this led to similar behavioral performances on the SRT task, it is very plausible that this intentional learning has adverse effects in more complex social situations, and hence contributes to the social impairments found in ASD. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

© 2017 International Society for Autism Research, Wiley Periodicals, Inc.

PMID: 28448681

DOI: 10.1002/aur.1802

L'insuffisance haploïde Rai1 est associée à des anomalies sociales chez les souris

Aperçu: G.M.

L'autisme se caractérise par des difficultés dans l'interaction sociale, la communication et les comportements répétitifs; Avec différents degrés de sévérité dans chacun de ces domaines, l'haploinsuffisance et les mutations du gène RAI1(retinoic acid induced 1) sont associées au syndrome de Smith-Magenis (SMS), un état génétique qui touche la gamme du spectre de l'autisme pour la réceptivité sociale et la communication et se caractérise par des anomalies neuro-comportementales, un handicap intellectuel, un retard de développement, une perturbation du sommeil et des comportements auto-injuriants. 

L'évaluation de souris Rai1 +/-montre qu'elles présentaient une diminution de l'intérêt pour les odeurs sociales, les tendances de soumissions anormales et des comportements répétitifs accrus par rapportà leurs congénères non RAI1. Ces résultats suggèrent que Rai1 contribue au comportement social chez la souris et l'invite à devenir un gène candidat pour les comportements sociaux observés chez les malades du syndrome de Smith-Magenis.

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Biology (Basel). 2017 Apr 27;6(2). pii: E25. doi: 10.3390/biology6020025.

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

Rao NR¹, Abad C², Perez IC³, Srivastava AK⁴, Young JI^5,6, Walz K^7,8.

Author information

1

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. nalini.rao326@gmail.com

2

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. cabad@med.miami.edu.

3

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. irene.perez28@gmail.com.

4

J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA. anand@ggc.org.

5

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. jyoung3@med.miami.edu.

6

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA. jyoung3@med.miami.edu.

7

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. kwalz@med.miami.edu.

8

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA. kwalz@med.miami.edu.

Abstract

Background: Autism is characterized by difficulties in social interaction, communication, and repetitive behaviors; with different degrees of severity in each of the core areas. Haploinsufficiency and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition that scores within the autism spectrum range for social responsiveness and communication, and is characterized by neurobehavioral abnormalities, intellectual disability, developmental delay, sleep disturbance, and self-injurious behaviors. Methods: To investigate the relationship between Rai1 and social impairment, we evaluated the Rai1^+/- mice with a battery of tests to address social behavior in mice. Results: We found that the mutant mice showed diminished interest in social odors, abnormal submissive tendencies, and increased repetitive behaviors when compared to wild type littermates. Conclusions: These findings suggest that Rai1 contributes to social behavior in mice, and prompt it as a candidate gene for the social behaviors observed in Smith-Magenis Syndrome patients.

PMID: 28448442

DOI: 10.3390/biology6020025

Tirer parti des archives d'imagerie clinique pour Radiomics: fiabilité des méthodes automatisées pour la mesure du volume du cerveau

Aperçu: G.M.

En utilisant ces méthodes automatisées, le volume total du cerveau (TBV), le volume de la matière grise (GM) et le volume de la matière blanche (WM) ont été estimés en utilisant trois Boîtes à outils automatiques largement utilisées: SPM , FreeSurfer  et FSL.

Des comparaisons de volume en couches minces contre épaisseur ont été faites pour chaque méthode en utilisant des coefficients de corrélation intraclasse (ICC). Les résultats SPM ont montré d'excellents ICC (0,97, 0,85 et 0,83 pour TBV, GMV et WMV, respectivement).

Des images IRM de qualité clinique pour l'épaisseur peuvent être utilisées avec fiabilité pour calculer des paramètres quantitatifs du cerveau tels que TBV, GMV et WMV en utilisant SPM.  

Radiology. 2017 Apr 27:161928. doi: 10.1148/radiol.2017161928.

Leveraging Clinical Imaging Archives for Radiomics: Reliability of Automated Methods for Brain Volume Measurement

Adduru VR¹, Michael AM¹, Helguera M¹, Baum SA¹, Moore GJ¹.

Author information

1

From the Institute for Advanced Application (V.R.A., A.M.M., G.J.M.), Autism and Developmental Medicine Institute (A.M.M.), and Department of Radiology (G.J.M.), Geisinger Health System, 100 N Academy Ave, Danville, PA 17822; and Chester F. Carlson Center for Imaging Science, Rochester Institute of Technology, Rochester, NY (V.R.A., A.M.M., M.H., S.A.B.).

Abstract

Purpose To validate the use of thick-section clinically acquired magnetic resonance (MR) imaging data for estimating total brain volume (TBV), gray matter (GM) volume (GMV), and white matter (WM) volume (WMV) by using three widely used automated toolboxes: SPM ( www.fil.ion.ucl.ac.uk/spm/ ), FreeSurfer ( surfer.nmr.mgh.harvard.edu ), and FSL (FMRIB software library; Oxford Centre for Functional MR Imaging of the Brain, Oxford, England, https://fsl.fmrib.ox.ac.uk/fsl ). Materials and Methods MR images from a clinical archive were used and data were deidentified. The three methods were applied to estimate brain volumes from thin-section research-quality brain MR images and routine thick-section clinical MR images acquired from the same 38 patients (age range, 1-71 years; mean age, 22 years; 11 women). By using these automated methods, TBV, GMV, and WMV were estimated. Thin- versus thick-section volume comparisons were made for each method by using intraclass correlation coefficients (ICCs). Results SPM exhibited excellent ICCs (0.97, 0.85, and 0.83 for TBV, GMV, and WMV, respectively). FSL exhibited ICCs of 0.69, 0.51, and 0.60 for TBV, GMV, and WMV, respectively, but they were lower than with SPM. FreeSurfer exhibited excellent ICC of 0.63 only for TBV. Application of SPM's voxel-based morphometry on the modulated images of thin-section images and interpolated thick-section images showed fair to excellent ICCs (0.37-0.98) for the majority of brain regions (88.47% [306924 of 346916 voxels] of WM and 80.35% [377 282 of 469 502 voxels] of GM). Conclusion Thick-section clinical-quality MR images can be reliably used for computing quantitative brain metrics such as TBV, GMV, and WMV by using SPM. ^© RSNA, 2017 Online supplemental material is available for this article.

PMID: 28448234

DOI: 10.1148/radiol.2017161928

Intervention en ligne en matière de formation à la pensée positive pour les aidants naturels de personnes avec un diagnostic de TSA: nécessité, acceptabilité et faisabilité

Aperçu: G.M.

Plus de 3,5 millions de personnes aux États-Unis sont diagnostiquées avec un trouble du spectre de l'autisme (TSA). S'occuper des enfants avec un diagnostic de TSA peut être stressant et peut nuire au bien-être des soignants (CG). Cependant, les effets néfastes des soins de santé sur le bien-être des CG peuvent être évités avec des interventions appropriées. Les CG des personnes avec un diagnostic de TSA pourraient bénéficier d'une intervention de formation positive (PTT) pour les aider à faire face au stress des soins. Cependant, la nécessité, l'acceptabilité et la faisabilité des PTT chez les CG-TSA n'ont pas été étudiées.

Le score moyen sur l'échelle de cognition dépressive (DCS) était de 20, indiquant un besoin élevé de PTT pour tous les CG évalués. Les cognitions fortement dépressives chez les CG TSA ont été associées à une pensée positive plus faible.

En ce qui concerne l'acceptabilité, les CG ont indiqué que les différentes stratégies et références à la vie réelle étaient les parties les plus intéressantes de l'intervention.  

En ce qui concerne la faisabilité, les CG ont mentionné que l'écoute  et la visualisation du PowerPoint était la partie la plus simple du PTT.

Issues Ment Health Nurs. 2017 May;38(5):443-448. doi: 10.1080/01612840.2017.1279247. Epub 2017 Feb 27.

Online Positive Thinking Training Intervention for Caregivers of Individuals with ASD: Necessity, Acceptability and Feasibility

Bekhet AK¹.

Author information

1

a Mental Health Nursing, Marquette University College of Nursing , Milwaukee , Wisconsin , USA.

Abstract

BACKGROUND:

More than 3.5 million people in the United States are diagnosed with autism spectrum disorder (ASD). Caring for children with ASD can be stressful and can be detrimental to the well-being of the caregivers (CGs). However, the adverse effects of caregiving on the well-being of CGs may be avoided with appropriate interventions. CGs of persons with ASD might benefit from a positive thinking training (PTT) intervention to help them cope with the stress of caregiving. However, the necessity, acceptability and feasibility for PTT in ASD CGs have not been studied.

OBJECTIVE:

To examine the necessity, acceptability and feasibility of a six-week online PTT intervention designed to improve the well-being of the CGs.

DESIGN:

Random assignment of ASD CGs to one of two conditions: (1) PTT online intervention or (2) Control group.

RESULTS:

The mean score on the depressive cognition scale (DCS) was 20, indicating a high need of PTT to all enrolled CGs. High depressive cognitions in ASD CGs were associated with lower positive thinking (r = -.39; p <.001). Regarding acceptability, CGs indicated that the different strategies and references to real life were the most interesting parts of the intervention. Regarding feasibility, CGs mentioned that listening to the voice-over PowerPoint and visualization was the easiest part of the PTT.

CONCLUSIONS:

Examination of the fidelity and effectiveness of the PTT are the next steps in the refinement of this intervention.

PMID: 28448225

DOI: 10.1080/01612840.2017.1279247

Pêches au déjeuner: création et utilisation de variables visuelles

Aperçu: G.M.

Article sur le processus d'enregistrement et de codage des données avec le logiciel Observer XT 11.5 de Noldus, une méthode de collecte et d'analyse des données vidéo qui peut être utilisée pour de nombreuses questions anthropologiques, en plus de celles qui concernent la communication.

Med Anthropol. 2017 Apr 27. doi: 10.1080/01459740.2017.1321643.

Peaches for Lunch: Creating and Using Visual Variables

Cartwright E¹, Clegg A¹.

Author information

1

a Department of Anthropology , Idaho State University , Pocatello , Idaho , USA.

Abstract

In this article, I describe the process of systematically including non-verbal data in medical anthropology research. I demonstrate the process of visualizing and coding videotaped moments of life and show how we can analyze what is being done along with what is being said. I ground my discussion in toddler language socialization and then expand my observations to the realm of language pathologies. Aphasia from strokes, speech difficulties in neurologically based illnesses like Lou Gehrig's disease, and the variety of communication challenges that face those on the autism spectrum can all be studied in interesting ways by including precise descriptions of non-verbal actions. I discuss the process of recording and coding the data with the software Observer XT 11.5 by Noldus. This method of collecting and analyzing video data can be used for many anthropological questions, in addition to those concerned with communication.

PMID: 28448161

DOI: 10.1080/01459740.2017.1321643

Le tabagisme grand-maternel pendant la grossesse et les traits autistiques et le diagnostic d'autisme des petits-enfants

Aperçu: G.M.

Les chercheurs trouvent une association entre le tabagisme de la grand-mère maternelle fumant pendant la grossesse et le fait que les petites-filles aient des résultats défavorables dans les mesures de communication sociale et de comportement répétitif qui prédisent de façon indépendante le diagnostic d'autisme. Conformément à cela, ils montrent une association avec le diagnostic réel de l'autisme chez ses petits-enfants. Les grand-mère paternelles qui ont fumé pendant la grossesse n'ont pas eu d'associations.

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Sci Rep. 2017 Apr 27;7:46179. doi: 10.1038/srep46179.

Grand-maternal smoking in pregnancy and grandchild's autistic traits and diagnosed autism

Golding J¹, Ellis G¹, Gregory S¹, Birmingham K¹, Iles-Caven Y¹, Rai D², Pembrey M¹.

Author information

1

Centre for Child and Adolescent Health, School of Social and Community Medicine, University of Bristol, Bristol, UK.

2

Centre for Academic Mental Health, School of Social and Community Medicine, University of Bristol, Bristol, UK.

Abstract

Although there is considerable research into the genetic background of autism spectrum disorders, environmental factors are likely to contribute to the variation in prevalence over time. Rodent experiments indicate that environmental exposures can have effects on subsequent generations, and human studies indicate that parental prenatal exposures may play a part in developmental variation. Here we use the Avon Longitudinal Study of Parents and Children (ALSPAC) to test the hypothesis that if the mother or father (F1) had been exposed to their own mother's (F0) smoking during pregnancy, the offspring (F2) would be at increased risk of autism. We find an association between maternal grandmother smoking in pregnancy and grand daughters having adverse scores in Social Communication and Repetitive Behaviour measures that are independently predictive of diagnosed autism. In line with this, we show an association with actual diagnosis of autism in her grandchildren. Paternal grandmothers smoking in pregnancy showed no associations.

PMID: 28448061

DOI: 10.1038/srep46179

Les effets du langage précoce sur l'âge du diagnostic et sur le fonctionnement à l'âge scolaire chez les enfants avec un diagnostic de trouble du spectre de l'autisme

Aperçu: G.M.

La recherche suggère que les enfants en bas âge sans retard de langue (NLD) devraient avoir de meilleurs résultats que ceux avec retard de langue (LD). Cependant, l'utilité prédictive des évènements marquants du langage par rapport aux facteurs co-variables tels que l'âge du diagnostic, le QI et la symptomatologie TSA n'est pas claire.  Les groupes TSA-NLD et TSA-LD étaient semblables du point de vue des symptômes de TSA  et du fonctionnement adaptatif à l'âge scolaire. Les étapes de la langue ont été corrélées avec le fonctionnement adaptatif, mais le QI et les symptômes sociaux des TSA étaient des prédicteurs plus forts du fonctionnement à l'âge scolaire.  

Par conséquent, les étapes du langage peuvent ne pas être les meilleurs indicateurs de pronostic pour les enfants qui sont diagnostiqués après l'enfance.

 

J Autism Dev Disord. 2017 Apr 26. doi: 10.1007/s10803-017-3133-1.

The Effects of Early Language on Age at Diagnosis and Functioning at School Age in Children with Autism Spectrum Disorder

Goodwin A¹, Matthews NL², Smith CJ².

Author information

1

Southwest Autism Research and Resource Center, 300 North 18th Street, Phoenix, AZ, 85006, USA. agoodwin@autismcenter.org.

2

Southwest Autism Research and Resource Center, 300 North 18th Street, Phoenix, AZ, 85006, USA.

Abstract

Research suggests that toddlers with no language delay (NLD) should have better outcomes than those with language delay (LD). However, the predictive utility of language milestones relative to co-varying factors such as age at diagnosis, IQ, and ASD symptomatology is unclear. This study compared school-aged children with ASD and NLD (n = 59) to a well-matched group with ASD and LD (n = 59). The LD group was diagnosed at younger ages and their historical ASD symptoms were more severe than the NLD group. The groups were similar in current ASD symptoms and adaptive functioning at school age. Language milestones were correlated with adaptive functioning, but IQ and social symptoms of ASD were stronger predictors of functioning at school age. Therefore, language milestones may not be the best indicators of prognosis for children who are diagnosed after toddlerhood.

PMID: 28447306

DOI: 10.1007/s10803-017-3133-1

Un décalage entre le compréhension et la production dans le développement du langage précoce dans le TSA: est-ce cliniquement pertinent ?

Aperçu: G.M.

Cette étude a examiné dans quelle mesure un décalage entre la production et la compréhension discrète (c'est-à-dire une compréhension relativement plus tardive que la production) est caractéristique du phénotype du langage précoce dans les troubles du spectre de l'autisme. 

Les données longitudinales pour les enfants avec un diagnostic de TSA ont révélé que le décalage a diminué régulièrement de 30 à 44 mois jusqu'à ce qu'il n'y ait plus de différence significative de compréhension/production à 66 mois. En conclusion, les résultats suggèrent qu'une compréhension plus faible que la production peut être un marqueur spécifique à l'âge des enfants en bas âge ayant un TSA. 

J Autism Dev Disord. 2017 Apr 26. doi: 10.1007/s10803-017-3135-z.

A Discrepancy in Comprehension and Production in Early Language Development in ASD: Is it Clinically Relevant?

Davidson MM¹, Ellis Weismer S².

Author information

1

Callier Center for Communication Disorders, School of Behavioral and Brain Sciences, The University of Texas at Dallas, 1966 Inwood Road, Dallas, TX, 75235, USA. meghan.davidson@utdallas.edu

2

Communication Sciences and Disorders and the Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Rm 473, Madison, WI, 53705, USA.

Abstract

This study examined the extent to which a discrepant comprehension-production profile (i.e., relatively more delayed comprehension than production) is characteristic of the early language phenotype in autism spectrum disorders (ASD) and tracked the developmental progression of the profile. Our findings indicated that a discrepant comprehension-production profile distinguished toddlers (30 months) with ASD from late talkers without ASD (91% sensitivity, 100% specificity) in groups that were comparable on expressive language, age, and socioeconomic status. Longitudinal data for children with ASD revealed that the discrepant profile steadily decreased from 30 to 44 months until there was no significant comprehension-production difference at 66 months. In conclusion, results suggest that lower comprehension than production may be an age-specific marker of toddlers with ASD.

PMID: 28447305

DOI: 10.1007/s10803-017-3135-z

Auto-rapport et indicateurs cérébraux de la déficience de la régulation des émotions dans le spectre élargi de l'autisme

Aperçu: G.M.

Bien qu'il ne soit pas utilisé comme critère de diagnostic, la régulation de l'émotion est souvent observée chez l'autisme. La présente étude a examiné l'utilisation autodéclarée des stratégies de régulation de l'émotion chez les personnes présentant un score faible ou élevé de traits autistiques.  

Le fait de signaler plus de traits autistiques était lié à l'utilisation de plus de stratégies de régulation des émotions inadaptées et moins d'adaptées.  

Dans les deux groupes, aucune atténuation du potentiel positif tardif lors de la régulation négative des images désagréables n'a été trouvée.
Bien que l'auto-rapport indique une régulation de l'émotion altérée chez les personnes présentant des antécédents autistiques, les résultats électrophysiologiques ne le confirment pas.

 

J Autism Dev Disord. 2017 Apr 26. doi: 10.1007/s10803-017-3138-9.

Self-Report and Brain Indicators of Impaired Emotion Regulation in the Broad Autism Spectrum

De Groot K¹, Van Strien JW².

Author information

1

Faculty of Social Sciences, Erasmus University Rotterdam, Burgemeester Oudlaan 50, 3062 PA, Rotterdam, The Netherlands. k.degroot@ese.eur.nl

2

Faculty of Social Sciences, Erasmus University Rotterdam, Burgemeester Oudlaan 50, 3062 PA, Rotterdam, The Netherlands.

Abstract

Although not used as a diagnostic criterion, impaired emotion regulation is frequently observed in autism. The present study examined self-reported use of emotion regulation strategies in individuals scoring low or high on autistic traits. In addition, the late positive potential, which is sensitive to emotional arousal, was used to examine the effect of one strategy, reappraisal. Reporting more autistic traits was related to using more maladaptive and fewer adaptive emotion regulation strategies. Across both groups, no attenuation of the late positive potential during downregulation of unpleasant pictures was found, possibly because of the used valence-changing reappraisal operationalisation. Hence, although self-report indicated impaired emotion regulation in individuals high on autistic traits, electrophysiological findings could not confirm this.

PMID: 28447304

DOI: 10.1007/s10803-017-3138-9

Dépendance à l'âge atypique de la fonction exécutive et de la microstructure de la matière blanche chez les enfants et les adolescents atteints de troubles du spectre de l'autisme

Aperçu: G.M.

La performance de la fonction exécutive (FE) est associée aux mesures de la microstructure de la matière blanche (WMS) chez les individus typiques. La FE déficitaire est un symptôme caractéristique des troubles du spectre de l'autisme (TSA), mais il est difficile de savoir si les problèmes de FE se rapportent à la variabilité du WMS.  

Les variations de la performance de l'EF et les mesures WMS étaient dépendantes de l'âge chez les personnes  au développement typique (DT) mais de façon atténuée dans le groupe TSA.  

Eur Child Adolesc Psychiatry. 2017 Apr 26. doi: 10.1007/s00787-017-0990-2. [Epub ahead of print]

Atypical age-dependency of executive function and white matter microstructure in children and adolescents with autism spectrum disorders

Martínez K^1,2,3,4,5, Merchán-Naranjo J^6,7,8, Pina-Camacho L^6,7,8,9, Alemán-Gómez Y^7,8, Boada L^6,7,8, Fraguas D^6,7,8, Moreno C^6,7,8, Arango C^6,7,8,10, Janssen J^6,7,8,11, Parellada M^6,7,8,10.

Author information

1

Department of Child and Adolescent Psychiatry, Hospital General Universitario Gregorio Marañón, Madrid, Spain. kenia.martinez.r@gmail.com

2

Instituto de Investigación Sanitaria Gregorio Marañón (IISGM), Madrid, Spain. kenia.martinez.r@gmail.com.

3

Ciber del área de Salud Mental (CIBERSAM), Madrid, Spain. kenia.martinez.r@gmail.com.

4

Universidad Europea de Madrid, Madrid, Spain. kenia.martinez.r@gmail.com

5

Hospital Gregorio Marañón, Edificio prefabricado, entrada por Máiquez 9, 28009, Madrid, Spain. kenia.martinez.r@gmail.com.

6

Department of Child and Adolescent Psychiatry, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

7

Instituto de Investigación Sanitaria Gregorio Marañón (IISGM), Madrid, Spain.

8

Ciber del área de Salud Mental (CIBERSAM), Madrid, Spain.

9

Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.

10

Universidad Complutense de Madrid, Madrid, Spain.

11

Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.

Abstract

Executive function (EF) performance is associated with measurements of white matter microstructure (WMS) in typical individuals. Impaired EF is a hallmark symptom of autism spectrum disorders (ASD) but it is unclear how impaired EF relates to variability in WMS. Twenty-one male youth (8-18 years) with ASD and without intellectual disability and twenty-one typical male participants (TP) matched for age, intelligence quotient, handedness, race and parental socioeconomic status were recruited. Five EF domains were assessed and several DTI-based measurements of WMS [fractional anisotropy (FA), mean diffusivity (MD) and radial diffusivity (RD)] were estimated for eighteen white matter tracts. The ASD group had lower scores for attention (F = 8.37, p = 0.006) and response inhibition (F = 13.09, p = 0.001). Age-dependent changes of EF performance and WMS measurements were present in TP but attenuated in the ASD group. The strongest diagnosis-by-age effect was found for forceps minor, left anterior thalamic radiation and left cingulum angular bundle (all p's ≤ 0.002). In these tracts subjects with ASD tended to have equal or increased FA and/or reduced MD and/or RD at younger ages while controls had increased FA and/or reduced MD and/or RD thereafter. Only for TP individuals, increased FA in the left anterior thalamic radiation was associated with better response inhibition, while reduced RD in forceps minor and left cingulum angular bundle was related to better problem solving and working memory performance respectively. These findings provide novel insight into the age-dependency of EF performance and WMS in ASD, which can be instructive to cognitive training programs.

PMID: 28447268

DOI: 10.1007/s00787-017-0990-2

Anomalies de l'EEG et incidence à long terme de convulsions dans l'autisme à haut niveau de fonctionnement cognitif

Aperçu: G.M.

Des anomalies électroencéphalographiques peuvent se produire dans les troubles du spectre de l'autisme (TSA) même en l'absence de crises cliniques. Ces anomalies peuvent varier d'une modification non spécifique aux anomalies épileptiformes et sont plus fréquentes par rapport à la population globale.  

Dans cette étude, les chercheurs ont étudié la présence d'anomalies de l'EEG chez seize enfants diagnostiqués avec un TSA HN (haut niveau). L'enregistrement de l'EEG a été effectué pendant au moins 2 h et a inclus au moins 90 minutes d'activité du sommeil. Bien qu'aucun des patients n'ait eu de convulsions cliniques, 5 patients (31,3%) ont été détectés comme ayant des anomalies de l'EEG. Quatre d'entre eux étaient épileptiformes (25%) et un patient a développé une crise pendant le suivi.  L'impact potentiel des anomalies de l'EEG sur la cognition et le comportement et le risque d'épilepsie devraient être pris en compte lors du suivi à long terme de ces patients.

Acta Neurol Belg. 2017 Apr 26. doi: 10.1007/s13760-017-0785-8.

EEG abnormalities and long term seizure outcome in high functioning autism

Ertürk Çetin Ö¹, Korkmaz B², Alev G³, Demirbilek V².

Author information

1

Department of Neurology Division of Child Neurology, Istanbul University Cerrahpasa Faculty of Medicine, Fatih, 34098, Istanbul, Turkey. ozdemerturk@yahoo.com

2

Department of Neurology Division of Child Neurology, Istanbul University Cerrahpasa Faculty of Medicine, Fatih, 34098, Istanbul, Turkey.

3

Anadolu University Institute of Health Sciences, Speech and Language Therapy, Eskisehir, Turkey.

Abstract

Electroencephalographic abnormalities may occur in autistic spectrum disorders (ASD) even in the absence of clinical seizures. These abnormalities may vary from nonspecific changes to epileptiform abnormalities and are more common compared to the overall population. The level of intelligence is a significant risk factor for epilepsy in ASD. However, the relation between the functionality of the individuals with autism and the electroencephalographic (EEG) abnormalities, and the clinical significance of these abnormalities still remain relatively unclear. In this study we investigated the presence of EEG abnormalities in sixteen children diagnosed with high-functioning ASD. EEG recording was performed for at least 2 h and included at least 90 min of sleep activity. While none of the patients had clinical seizures, 5 patients (31.3%) were detected to have EEG abnormalities. Four of these were epileptiform (25%), and one patient developed seizure during follow-up. Our results support the fact that EEG abnormalities are observed at a higher rate also in ASD with a better functionality. The potential impact of EEG abnormalities on cognition and behavior, and the risk of epilepsy should be considered during long-term follow-up of these patients.

PMID: 28447214

DOI: 10.1007/s13760-017-0785-8