Diagnostic de l'autisme par EEG traité par des algorithmes de calcul avancés: Une étude pilote

Traduction partielle : G.M.

Comput Methods Programs Biomed. 2017 Apr;142:73-79. doi: 10.1016/j.cmpb.2017.02.002. Epub 2017 Feb 20.

Diagnosis of autism through EEG processed by advanced computational algorithms: A pilot study

Grossi E¹, Olivieri C², Buscema M³.

Author information

1

Autism Research Unit, Villa Santa Maria Institute, Italy, Via IV Novembre 22038 Tavernerio (CO). Electronic address: enzo.grossi@bracco.com.

2

Autism Research Unit, Villa Santa Maria Institute, Italy, Via IV Novembre 22038 Tavernerio (CO). Electronic address: chiara.olivieri.co@gmail.com.

3

Semeion Research Centre of Sciences of Communication, Via Sersale 117, Rome, 00128, Italy. Electronic address: m.buscema@semeion.it

Abstract

BACKGROUND:

(MS-ROM / I-FAST) est un nouveau système complexe basé sur les réseaux neuronaux artificiels (ANNs) capable d'extraire des caractéristiques d'intérêt dans l'EEG informatisé par l'analyse de quelques minutes de leur EEG sans prétraitement préliminaire. Une étude de preuve de concept publiée précédemment a montré des valeurs de précision allant de 94% à 98% chez des sujets concernés ayant une déficience cognitive légère et / ou une maladie d'Alzheimer chez des personnes âgées en bonne santé. La présence de schémas déviants dans les enregistrements simples de l'EEG de l'autisme, en cohérence avec l'organisation atypique du cortex cérébral, nous a incités à appliquer ces puissants systèmes analytiques à la recherche d'une signature EEG du trouble
Multi-Scale Ranked Organizing Map coupled with Implicit Function as Squashing Time algorithm(MS-ROM/I-FAST) is a new, complex system based on Artificial Neural networks (ANNs) able to extract features of interest in computerized EEG through the analysis of few minutes of their EEG without any preliminary pre-processing. A proof of concept study previously published showed accuracy values ranging from 94%-98% in discerning subjects with Mild Cognitive Impairment and/or Alzheimer's Disease from healthy elderly people. The presence of deviant patterns in simple resting state EEG recordings in autism, consistent with the atypical organization of the cerebral cortex present, prompted us in applying this potent analytical systems in search of a EEG signature of the disease.

AIM OF THE STUDY:

The aim of the study is to assess how effectively this methodology distinguishes subjects with autism from typically developing ones.

METHODS:

Fifteen definite ASD subjects (13 males; 2 females; age range 7-14; mean value = 10.4) and ten typically developing subjects (4 males; 6 females; age range 7-12; mean value 9.2) were included in the study. Patients received Autism diagnoses according to DSM-V criteria, subsequently confirmed by the ADOS scale. A segment of artefact-free EEG lasting 60 seconds was used to compute input values for subsequent analyses. MS-ROM/I-FAST coupled with a well-documented evolutionary system able to select predictive features (TWIST) created an invariant features vector input of EEG on which supervised machine learning systems acted as blind classifiers.

RESULTS:

La capacité prédictive globale du système d'apprentissage automatique pour trier les cas autistes du groupe contrôle sans autisme s'est élevée de façon constante à 100% avec tous les types de systèmes utilisés en utilisant le protocole d'essai et à 84% - 92,8% en utilisant le protocole Leave One Out. Les similitudes entre les matrices de poids ANN mesurées avec des algorithmes approchés n'ont pas été affectées par l'âge des sujets. Cela suggère que les ANN ne lisent pas les modèles d'EEG liés à l'âge, mais plutôt des caractéristiques invariantes liées à la signature de déconnexion sous-jacente du cerveau.
The overall predictive capability of machine learning system in sorting out autistic cases from normal control amounted consistently to 100% with all kind of systems employed using training-testing protocol and to 84% - 92.8% using Leave One Out protocol. The similarities among the ANN weight matrixes measured with apposite algorithms were not affected by the age of the subjects. This suggests that the ANNs do not read age-related EEG patterns, but rather invariant features related to the brain's underlying disconnection signature.

CONCLUSION:

This pilot study seems to open up new avenues for the development of non-invasive diagnostic testing for the early detection of ASD.

Copyright © 2017 Elsevier B.V. All rights reserved.

 

PMID: 28325448

DOI: 10.1016/j.cmpb.2017.02.002

Relation entre le sélénium, le plomb et le mercure dans les globules rouges des enfants autistes saoudiens

Aperçu: G.M.

Les données obtenues démontrent une élévation significative du Hg et du Pb ainsi qu'une diminution significative des taux de Se dans les globules rouges des patients avec TSA par rapport aux témoins sans TSA.

Metab Brain Dis. 2017 Mar 21. doi: 10.1007/s11011-017-9996-1.

Relationship between selenium, lead, and mercury in red blood cells of Saudi autistic children

El-Ansary A^1,2,3, Bjørklund G⁴, Tinkov AA^5,6,7, Skalny AV^6,7,8,9, Al Dera H^10,11.

Author information

1

Central Laboratory, Center for Female Scientific and Medical Colleges, King Saud University, Riyadh, Saudi Arabia.

2

Autism Research and Treatment Center, Riyadh, Saudi Arabia.

3

Medicinal Chemistry Department, National Research Centre, Dokki, Cairo, Egypt.

4

Council for Nutritional and Environmental Medicine, Toften 24, 8610, Mo i Rana, Norway. bjorklund@conem.org.

5

Orenburg State University, Orenburg, Russia.

6

Orenburg State Medical University, Orenburg, Russia.

7

Yaroslavl State University, Yaroslavl, Russia.

8

RUDN University, Moscow, Russia.

9

All-Russian Research Institute of Medicinal and Aromatic Plants, Moscow, Russia.

10

Basic Medical Science Department, College of Medicine, King Saud bin Abdul Aziz University for Health Sciences, Riyadh, Saudi Arabia.

11

King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can cause significant social, communication and behavioral challenges. Environmental contribution to ASD is due in large part to the sensitivity of the developing brain to external exposures such as lead (Pb), and mercury (Hg) as toxic heavy metals or due to a poor detoxification ability as the phenotype of this disorder. Selenium (Se) as an antioxidant element that counteracts the neurotoxicity of Hg, and Pb, presumably through the formation of nontoxic complexes. In the present study, Pb, Hg, and Se were measured in red blood cells (RBCs) of 35 children with ASD and 30 age- and gender-matched healthy control children using atomic absorption spectrometry. Receiver Operating Characteristics (ROC) analysis of the obtained data was performed to measure the predictive value of their absolute and relative concentrations. The obtained data demonstrates a significant elevation of Hg and Pb together with a significant decrease in the Se levels in RBCs of patients with ASD when compared to the healthy controls. The ratios of Se to both Pb and Hg were remarkably altered, being indicative of heavy metal neurotoxicity in patients with ASD. In conclusion, the present study indicates the importance of Se for prevention and/or therapy of heavy metal neurotoxicity.

PMID: 28326463

DOI: 10.1007/s11011-017-9996-1

«J'étais juste tellement différent»: Les expériences de femmes diagnostiquées avec un trouble du spectre de l'autisme à l'âge adulte en relation avec le genre et les relations sociales

Aperçu: G.M.

Un nombre limité d'études qualitatives à petite échelle ont exploré les expériences des adolescentes avec troubles du spectre de l'autisme , mais pas les femmes adultes.Sept entretiens semi-structurés avec des femmes ayant reçu un diagnostic à l'âge adulte ont été réalisés. Le recrutement a porté sur les services communautaires de santé mentale, les services aux patients hospitalisés et un groupe de soutien communautaire. Des expériences et des histoires diverses des femmes ont émergé de deux grandes catégories liées à l'identité de genre et aux relations sociales.

Autism. 2017 Mar 1:1362361316687987. doi: 10.1177/1362361316687987.

'I was just so different': The experiences of women diagnosed with an autism spectrum disorder in adulthood in relation to gender and social relationships

Kanfiszer L^1,2, Davies F¹, Collins S¹.

Author information

1

1 University of Essex, UK.

2

2 Great Ormond Street Hospital for Children NHS Foundation Trust, UK.

Abstract

Existing literature exploring autism spectrum disorders within female populations predominantly utilises quantitative methodology. A limited number of small-scale, qualitative studies have explored the experiences of adolescent girls with autism spectrum disorder, but adult women have remained largely unheard. This study aims to broaden the stories told within autobiographical literature and empower those within the wider community of women with autism spectrum disorder. In doing so, it seeks to extend existing conceptualisations of experience to include socially and culturally located factors. A qualitative methodology was adopted, utilising multi-stage narrative analysis. Seven semi-structured interviews with women who received a diagnosis in adulthood were conducted. Recruitment spanned community mental health services, an inpatient service and a community support group. From the women's diverse experiences and stories emerged two broad categories related to gender identity and social relationships. The findings are discussed in relation to existing constructs of autism in women.

PMID: 28326792

DOI: 10.1177/1362361316687987

Les échanges sociaux positifs et négatifs vécus par les pères et les mères d'enfants autistes

Aperçu: G.M.

Cette étude a examiné les types et les sources d'échanges sociaux positifs et négatifs signalés par les mères et les pères d'enfants autistes et leur association avec les symptômes dépressifs parentaux.
Les pères ont signalé moins d'échanges sociaux positifs et moins de négatifs avec la famille, les amis et les professionnels de santé que les mères. Les échanges sociaux positifs et négatifs avec le conjoint étaient les plus fortement associés aux symptômes dépressifs.

Autism. 2017 Mar 1:1362361316687117. doi: 10.1177/1362361316687117.

Positive and negative social exchanges experienced by fathers and mothers of children with autism

Hickey EJ¹, Dubois L², Hartley SL¹.

Author information

1

1 University of Wisconsin-Madison, USA.

2

2 Special Olympics, USA.

Abstract

When faced with child-related challenges associated with autism spectrum disorder, positive and negative social exchanges may be critical to parents' psychological well-being. This study examined the types and sources of positive and negative social exchanges reported by mothers and fathers of children with autism spectrum disorder and their association with parental depressive symptoms in 176 families of children (5-12 years; 85% male) with autism spectrum disorder. One-way repeated measure multivariate analyses of variance and multilevel modeling were used. Results indicated that informational was the most frequent type, and one's spouse was the primary source, of both positive and negative social exchanges. Fathers reported fewer positive, and also fewer negative, social exchanges with family, friends, and health professionals than mothers. Positive and negative social exchanges with one's spouse were most strongly associated with depressive symptoms. Findings have implications for interventions designed to foster optimal outcomes in families of children with autism spectrum disorder.

PMID: 28326797

DOI: 10.1177/1362361316687117

Un rôle critique des protéines Shank2 spinales dans l'hypersensibilité à la douleur induite par NMDA

Aperçu: G.M.

Les comportements d'auto-mutilations (SIB) sont des traits dévastateurs du trouble du spectre de l"autisme (TSA). Bien que les déficits de la sensation de douleur puissent être l'un des facteurs qui sous-tendent le développement des SIB, les mécanismes n'ont pas encore été abordés.

La protéine synaptique Shank2 a été considérée comme un composant clé dans le TSA, et les mutations du gène SHANK2 induisent le dysfonctionnement des récepteurs N-méthyl-D-aspartate (NMDA), suggérant un lien entre les récepteurs Shank2 et NMDA dans les TSA, récepteurs qui jouent un rôle central dans l'hypersensibilité à la douleur.La protéine Shank2 est impliquée dans la douleur médiée par le récepteur NMDA spinale, et les mutations de Shank2 peuvent supprimer la signalisation NMDA-ERK dans la transmission de la douleur spinale.

Mol Pain. 2017 Jan;13:1744806916688902. doi: 10.1177/1744806916688902.

A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity

Yoon SY^1,2, Kwon SG³, Kim YH^1,2,4, Yeo JH³, Ko HG⁵, Roh DH³, Kaang BK^5,6, Beitz AJ⁷, Lee JH^8,9, Oh SB^1,2.

Author information

Abstract

Background Self-injurious behaviors (SIBs) are devastating traits in autism spectrum disorder (ASD). Although deficits in pain sensation might be one of the contributing factors underlying the development of SIBs, the mechanisms have yet to be addressed. Recently, the Shank2 synaptic protein has been considered to be a key component in ASD, and mutations of SHANK2 gene induce the dysfunction of N-methyl-D-aspartate (NMDA) receptors, suggesting a link between Shank2 and NMDA receptors in ASD. Given that spinal NMDA receptors play a pivotal role in pain hypersensitivity, we investigated the possible role of Shank2 in nociceptive hypersensitivity by examining changes in spontaneous pain following intrathecal NMDA injection in S hank2-/- ( Shank2 knock-out, KO) mice. Results Intrathecal NMDA injection evoked spontaneous nociceptive behaviors. These NMDA-induced nociceptive responses were significantly reduced in Shank2 KO mice. We also observed a significant decrease of NMDA currents in the spinal dorsal horn of Shank2 KO mice. Subsequently, we examined whether mitogen-activated protein kinase or AKT signaling is involved in this reduced pain behavior in Shank2 KO mice because the NMDA receptor is closely related to these signaling molecules. Western blotting and immunohistochemistry revealed that spinally administered NMDA increased the expression of a phosphorylated form of extracellular signal-regulated kinase (p-ERK) which was significantly reduced in Shank2 KO mice. However, p38, JNK, or AKT were not changed by NMDA administration. The ERK inhibitor, PD98059, decreased NMDA-induced spontaneous pain behaviors in a dose-dependent manner in wild-type mice. Moreover, it was found that the NMDA-induced increase in p-ERK was primarily colocalized with Shank2 proteins in the spinal cord dorsal horn. Conclusion Shank2 protein is involved in spinal NMDA receptor-mediated pain, and mutations of Shank2 may suppress NMDA-ERK signaling in spinal pain transmission. This study provides new clues into the mechanisms underlying pain deficits associated with SIB and deserves further study in patients with ASD.

PMID: 28326932

DOI: 10.1177/1744806916688902

*SIGUEME: Intervention technologique pour l'autisme "à bas niveau de fonctionnement" pour développer des compétences pour travailler avec des signifiants et des concepts visuels

Traduction partielle: G.M.

Res Dev Disabil. 2017 Mar 16;64:25-36. doi: 10.1016/j.ridd.2017.02.008.

SIGUEME: Technology-based intervention for low-functioning autism to train skills to work with visual signifiers and concepts

Vélez-Coto M¹, Rodríguez-Fórtiz MJ², Rodriguez-Almendros ML³, Cabrera-Cuevas M³, Rodríguez-Domínguez C³, Ruiz-López T⁴, Burgos-Pulido Á⁵, Garrido-Jiménez I⁵, Martos-Pérez J⁶.

Author information

1

Mind, Brain, and Behaviour Research Centre (CIMCYC), University of Granada, Spain.

2

Research Centre for Information and Communications Technologies of the University of Granada, Spain. Electronic address: mjfortiz@ugr.es.

3

Research Centre for Information and Communications Technologies of the University of Granada, Spain.

4

Everyware Technologies.

5

Special Education School Fundación Purísima Concepción, Granada, Spain.

6

Director Centro Deletrea, Madrid, Spain.

Abstract

BACKGROUND:

Les personnes avec TSA à "faible niveau de fonctionnement" et handicaps associés ont souvent du mal à comprendre les symboles traditionnellement utilisés dans les documents éducatifs pendant le processus d'apprentissage. Les interventions axées sur la technologie sont de plus en plus courantes, aidant les enfants avec des déficiences cognitives à accomplir des tâches universitaires et à améliorer leurs capacités et leurs connaissances. Ces enfants ont souvent de la difficulté à exécuter certaines tâches contenues dans les matériels pédagogiques car ils manquent de compétences nécessaires, comme le raisonnement abstrait. Afin d'aider ces enfants, les auteurs ont conçu et créé SIGUEME pour former l'attention et les compétences cognitives perceptuelles et visuelles nécessaires pour travailler avec et comprendre les matériaux graphiques et les objets.
 People with low-functioning ASD and other disabilities often find it difficult to understand the symbols traditionally used in educational materials during the learning process. Technology-based interventions are becoming increasingly common, helping children with cognitive disabilities to perform academic tasks and improve their abilities and knowledge. Such children often find it difficult to perform certain tasks contained in educational materials since they lack necessary skills such as abstract reasoning. In order to help these children, the authors designed and created SIGUEME to train attention and the perceptual and visual cognitive skills required to work with and understand graphic materials and objects.

METHODS:

A pre-test/post-test design was implemented to test SIGUEME. Seventy-four children with low-functioning ASD (age=13.47, SD=8.74) were trained with SIGUEME over twenty-five sessions and compared with twenty-eight children (age=12.61, SD=2.85) who had not received any intervention.

RESULTS:

Il y a eu une amélioration statistiquement significative dans le groupe expérimental dans l'attention (W = -5,497, p <0,001). Il y a également eu un changement significatif dans l'association et la catégorisation (W = 2,721, p = 0,007) et l'interaction (W = -3,287, p = 0,001). 
There was a statistically significant improvement in the experimental group in Attention (W=-5.497, p<0.001). There was also a significant change in Association and Categorization (W=2.721, p=0.007) and Interaction (W=-3.287, p=0.001).

CONCLUSIONS:

SIGUEME est un outil efficace pour améliorer l'attention, la catégorisation et l'interaction chez les enfants qui fonctionnent peu avec le TSA. Il est également un instrument utile et puissant pour les enseignants, les parents et les éducateurs en augmentant la motivation et l'autonomie de l'enfant

SIGUEME is an effective tool for improving attention, categorization and interaction in low-functioning children with ASD. It is also a useful and powerful instrument for teachers, parents and educators by increasing the child's motivation and autonomy.

Copyright © 2017 Elsevier Ltd. All rights reserved.

PMID:28327383

DOI: 10.1016/j.ridd.2017.02.008

Le β-Arrestin2 associe le récepteur 5 au glutamate métabotrope à la synthèse des protéines neuronales et est une cible potentielle pour traiter le X fragile

Aperçu: G.M.

La synthèse des protéines synaptiques est essentielle pour la modification du cerveau par l'expérience et est aberrante dans plusieurs désordres génétiquement définis, notamment le syndrome de l'X fragile (FX), une cause héréditaire de l'autisme et de la déficience intellectuelle. 

La β-arrestine2 favorise la synthèse de protéines stimulées par mGlu5 dans l'hippocampe et montre que la réduction génétique de β-arrestine2 corrige la plasticité et la cognition synaptique aberrante dans le modèle de souris Fmr1- / y de FX. 

En plus d'identifier une condition clé pour la synthèse de protéines stimulées par mGlu5, ces données suggèrent que les modulateurs négatifs polarisés par ß-arrestine2 de mGlu5 offrent des avantages significatifs par rapport aux inhibiteurs de première génération pour le traitement de FX et des troubles apparentés.

Cell Rep. 2017 Mar 21;18(12):2807-2814. doi: 10.1016/j.celrep.2017.02.075.

β-Arrestin2 Couples Metabotropic Glutamate Receptor 5 to Neuronal Protein Synthesis and Is a Potential Target to Treat Fragile X

Stoppel LJ¹, Auerbach BD², Senter RK¹, Preza AR¹, Lefkowitz RJ³, Bear MF⁴.

Author information

1

The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.

2

The Center for Hearing and Deafness, Department of Communicative Disorders and Sciences, The State University of New York at Buffalo, Buffalo, NY 14214, USA.

3

Departments of Medicine and Biochemistry, Howard Hughes Medical Institute, Duke University Medical Center, Durham, NC 27710, USA.

4

The Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. Electronic address: mbear@mit.edu

Abstract

Synaptic protein synthesis is essential for modification of the brain by experience and is aberrant in several genetically defined disorders, notably fragile X (FX), a heritable cause of autism and intellectual disability. Neural activity directs local protein synthesis via activation of metabotropic glutamate receptor 5 (mGlu₅), yet how mGlu₅ couples to the intracellular signaling pathways that regulate mRNA translation is poorly understood. Here, we provide evidence that β-arrestin2 mediates mGlu₅-stimulated protein synthesis in the hippocampus and show that genetic reduction of β-arrestin2 corrects aberrant synaptic plasticity and cognition in the Fmr1^-/y mouse model of FX. Importantly, reducing β-arrestin2 does not induce psychotomimetic activity associated with full mGlu₅ inhibitors and does not affect G_q signaling. Thus, in addition to identifying a key requirement for mGlu₅-stimulated protein synthesis, these data suggest that β-arrestin2-biased negative modulators of mGlu₅ offer significant advantages over first-generation inhibitors for the treatment of FX and related disorders.

Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

PMID: 28329674

DOI: 10.1016/j.celrep.2017.02.075

Effets cumulatifs du risque d'intimidation chez les enfants et les jeunes avec troubles du spectre de l'autisme

Traduction: G.M.

Autism. 2017 Apr;21(3):291-300. doi: 10.1177/1362361316636761. Epub 2016 Jul 9.

Cumulative risk effects in the bullying of children and young people with autism spectrum conditions

Hebron J¹, Oldfield J², Humphrey N¹.

Author information

1

1 The University of Manchester, UK.

2

2 Manchester Metropolitan University, UK.

Abstract

Les étudiants autistes sont plus susceptibles d'être victimes de harcèlement que leurs pairs au développement typique. Cependant, plusieurs études ont montré que leur probabilité d'être intimidé augmente selon le contexte d'exposition à certains facteurs de risque (par exemple, les difficultés de comportement et les mauvaises relations entre pairs). Cette étude explore la vulnérabilité au harcèlement sous l'angle du risque cumulatif, en tenant compte du nombre de risques plutôt que de leur nature.  
Au total, 722 enseignants et 119 parents de jeunes souffrant de troubles du spectre autistique ont participé à l'étude. Les facteurs de risque établis ont été additionnés pour former un score de risque cumulatif dans les modèles des enseignants et des parents. Il y avait des preuves d'un effet de risque cumulatif dans les deux modèles, ce qui suggère que le nombre de risques augmentait, de même que l'exposition au harcèlement. Un effet quadratique a été trouvé dans le modèle de l'enseignant, indiquant qu'il y avait une augmentation disproportionnée de la probabilité d'être harcelé par rapport au nombre de facteurs de risque auxquels un jeune était exposé.  
À la lumière de ces constatations, il est proposé d'accorder plus d'attention au nombre de risques auxquels les enfants et les jeunes avec troubles du spectre de l'autisme sont exposés lors de la planification des interventions et de la mise en place d'un environnement éducatif approprié.

Students with autism are more likely to be bullied than their typically developing peers. However, several studies have shown that their likelihood of being bullied increases in the context of exposure to certain risk factors (e.g. behaviour difficulties and poor peer relationships). This study explores vulnerability to bullying from a cumulative risk perspective, where the number of risks rather than their nature is considered. A total of 722 teachers and 119 parents of young people with autism spectrum conditions participated in the study. Established risk factors were summed to form a cumulative risk score in teacher and parent models. There was evidence of a cumulative risk effect in both models, suggesting that as the number of risks increased, so did exposure to bullying. A quadratic effect was found in the teacher model, indicating that there was a disproportionate increase in the likelihood of being bullied in relation to the number of risk factors to which a young person was exposed. In light of these findings, it is proposed that more attention needs to be given to the number of risks to which children and young people with autism spectrum conditions are exposed when planning interventions and providing a suitable educational environment.

PMID: 27095833

DOI: 10.1177/1362361316636761

Taux d'autisme et facteurs de risque potentiels chez les enfants atteints de cardiopathies congénitales

Traduction partielle: G.M.

Congenit Heart Dis. 2017 Mar 16. doi: 10.1111/chd.12461.

Rates of autism and potential risk factors in children with congenital heart defects

Bean Jaworski JL¹, Flynn T¹, Burnham N¹, Chittams JL¹, Sammarco T¹, Gerdes M¹, Bernbaum JC¹, Clancy RR¹, Solot CB¹, Zackai EH¹, McDonald-McGinn DM¹, Gaynor JW¹.

Author information

1

Cardiothoracic Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvainia, USA.

Abstract

OBJECTIVE:

Le développement atypique, les difficultés comportementales et les lacunes scolaires sont des morbidités courantes chez les enfants ayant des antécédents de cardiopathies congénitales et une qualité de vie de l'impact. Des déficits langagiers et socio-cognitifs ont été décrits, qui sont associés à des troubles du spectre de l'autisme. La présente étude visait à évaluer les taux de troubles du spectre de l'autisme chez un grand échantillon d'enfants ayant des antécédents de cardiopathies congénitales et à évaluer les facteurs médicaux, comportementaux et individuels qui peuvent être associés au risque de troubles du spectre de l'autisme.
Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders.

DESIGN:

Participants included 195 children with a history of congenital heart defects, who are followed in a large-scale longitudinal study. Measures included behavioral data from 4-year-old neurodevelopmental evaluations and parent-report data from a later annual follow-up.

RESULTS:

Using established cutoffs on an autism spectrum disorder screener, children with congenital heart defects showed higher rates of "possible" autism spectrum disorders than national rates, (Chi-square Test of Equal Proportions), all Ps < .05. A stepwise variable selection method was used to create a "best prediction model" and multivariable logistic regression was used to identify variables predicting diagnostic status. Factors associated with diagnostic risk included medical (delayed sternal closure, prematurity, positive genetic findings), behavioral (cognitive, language, attention issues), and individual (socioeconomic, cultural/racial) variables. ROC analyses identified a cutoff of 7 to maximize sensitivity/specificity based on parent-reported diagnosis.

CONCLUSIONS:

Le risque de dépistage du trouble du spectre de l'autisme chez les enfants atteints de cardiopathies congénitales était plus élevé que celui attendu par rapport aux taux de population. Les résultats soulignent la nécessité de renvoyer vers un spécialiste pour évaluer la présence et la gravité des problèmes de communication sociale et les défauts cardiaques congénitaux des seuils de dépistage spécifiques à la population pour les enfants concernés par les troubles du spectre de l'autisme.
Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates. Findings highlight the need for referral to a specialist to assess the presence and severity of social-communication issues and congenital heart defects population-specific screening thresholds for children with concern for autism spectrum disorders.

© 2017 Wiley Periodicals, Inc.

PMID: 28299880

DOI: 10.1111/chd.12461

Variation du nombre de copies dans 19 familles multiplexes italiennes avec trouble du spectre de l'autisme: Importance des gènes synaptiques et d'élongation des neurites

Aperçu: G.M.

Le trouble du spectre de l'autisme (TSA) est doté d'estimations d'héritabilité impressionnantes et de taux de récidive élevés. Ses fondements génétiques sont néanmoins très hétérogènes, avec des variantes communes et rares qui contribuent à des centaines de loci différents, chacun caractérisé par des niveaux variables de pénétrance. Les familles multiplex d'un seul groupe ethnique représentent un moyen utile de réduire l'hétérogénéité et d'améliorer la charge génétique.Ces résultats fournissent des preuves supplémentaires de l'hétérogénéité génétique dans les TSA, même dans les familles multiplex appartenant à un seul groupe ethnique. Les différences dans la charge de la VCN peuvent probablement contribuer à l'hétérogénéité clinique importante observée entre frères et sœurs affectés

Am J Med Genet B Neuropsychiatr Genet. 2017 Mar 17. doi: 10.1002/ajmg.b.32537.

Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes

Lintas C¹, Picinelli C², Piras IS², Sacco R¹, Brogna C¹, Persico AM^2,3.

Author information

1

Service for Neurodevelopmental Disorders and Laboratory of Molecular Psychiatry and Neurogenetics, University "Campus Bio-Medico", Rome, Italy.

2

Mafalda Luce Center for Pervasive Developmental Disorders, Milan, Italy.

3

Unit of Child and Adolescent Neuropsychiatry, "Gaetano Martino" University Hospital, University of Messina, Messina, Italy.

Abstract

Autism Spectrum Disorder (ASD) is endowed with impressive heritability estimates and high recurrence rates. Its genetic underpinnings are nonetheless very heterogeneous, with common, and rare contributing variants located in hundreds of different loci, each characterized by variable levels of penetrance. Multiplex families from single ethnic groups represent a useful means to reduce heterogeneity and enhance genetic load. We screened 19 Italian ASD multiplex families (3 triplets and 16 duplets, total N = 41 ASD subjects), using array-CGH (Agilent 180 K). Causal or ASD-relevant CNVs were detected in 36.6% (15/41) of ASD probands, corresponding to 36.8% (7/19) multiplex families with at least one affected sibling genetically positive. However, only in less than half (3/7) of positive families, affected siblings share the same causal or ASD-relevant CNV. Even in these three families, additional potentially relevant CNVs not shared by affected sib pairs were also detected. These results provide further evidence of genetic heterogeneity in ASD even within multiplex families belonging to a single ethnic group. Differences in CNV burden may likely contribute to the substantial clinical heterogeneity observed between affected siblings. In addition, Gene Ontology enrichment analysis indicates that most potentially causal or relevant ASD genes detected in our cohort belong to nervous system-specific categories, especially involved in neurite elongation and synaptic structure/function. These findings point toward the existence of genomic instability in these families, whose underlying genetic and epigenetic mechanisms deserve further scrutiny.

© 2017 Wiley Periodicals, Inc.

PMID: 28304131

DOI: 10.1002/ajmg.b.32537

La charge de mémoire de travail affecte le comportement répétitif mais pas la flexibilité cognitive dans le trouble du spectre de l'autisme chez l'adolescent

Traduction partielle: G.M.

World J Biol Psychiatry. 2017 Mar 16:1-12. doi: 10.1080/15622975.2017.1296973. [Epub ahead of print]

Working memory load affects repetitive behaviour but not cognitive flexibility in adolescent autism spectrum disorder

Wolff N¹, Chmielewski WX¹, Beste C^1,2, Roessner V¹.

Author information

1

a Cognitive Neurophysiology, Department of Child and Adolescent Psychiatry , Faculty of Medicine of the TU Dresden , Dresden , Germany.

2

b Experimental Neurobiology , National Institute of Mental Health , Klecany , Czech Republic.

Abstract

OBJECTIVES:

Le trouble du spectre de l'autisme(TSA) est associé à un comportement répétitif et stéréotypé, ce qui suggère que la flexibilité cognitive peut être déficitaire dans le TSA. Un aspect central, mais non examiné, pour comprendre les déficits possibles du comportement flexible dans les TSA concerne (i) le rôle de la mémoire de travail et (ii) les mécanismes neurophysiologiques sous-jacents aux modulations comportementales.
Autism spectrum disorder (ASD) is associated with repetitive and stereotyped behaviour, suggesting that cognitive flexibility may be deficient in ASD. A central, yet not examined aspect to understand possible deficits in flexible behaviour in ASD relates (i) to the role of working memory and (ii) to neurophysiological mechanisms underlying behavioural modulations.

METHODS:

We analysed behavioural and neurophysiological (EEG) correlates of cognitive flexibility using a task-switching paradigm with and without working memory load in adolescents with ASD and typically developing controls (TD).

RESULTS:

Adolescents with ASD versus TD show similar performance in task switching with no memory load, indicating that 'pure' cognitive flexibility is not in deficit in adolescent ASD. However performance during task repetition decreases with increasing memory load. Neurophysiological data reflect the pattern of behavioural effects, showing modulations in P2 and P3 event-related potentials.

CONCLUSIONS:

Les exigences de mémoire de travail affectent le comportement répétitif alors que les processus de flexibilité cognitive ne sont pas affectés. Les effets émergent en raison des déficits dans les processus attentionnels préparatoires et des déficits dans l'activation des règles de tâche, l'organisation et la mise en œuvre des ensembles de tâches lorsque le comportement répétitif est concerné. On peut spéculer que le mode de réponse habituel dans le TSA (c'est-à-dire le comportement répétitif) est particulièrement vulnérable aux exigences supplémentaires sur les processus de contrôle exécutif.
Working memory demands affect repetitive behaviour while processes of cognitive flexibility are unaffected. Effects emerge due to deficits in preparatory attentional processes and deficits in task rule activation, organisation and implementation of task sets when repetitive behaviour is concerned. It may be speculated that the habitual response mode in ASD (i.e. repetitive behaviour) is particularly vulnerable to additional demands on executive control processes.

PMID: 28299954

DOI: 10.1080/15622975.2017.1296973

Analyse quantitative de la disfluence chez les enfants avec trouble du spectre de l'autisme ou trouble du langage

Aperçu: G.M.

Les déficits en communication sociale, en particulier le langage pragmatique, sont caractéristiques des personnes atteintes de troubles du spectre autistique (TSA).Les analyses ont montré que les enfants avec TSA produisaient un rapport plus élevé entre le contenu et les disfluences que les enfants au développement typique (TD). Les fréquences relatives des répétitions, des révisions et des faux départs ne différaient pas significativement entre les groupes.

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PLoS One. 2017 Mar 15;12(3):e0173936. doi: 10.1371/journal.pone.0173936. eCollection 2017.

Quantitative analysis of disfluency in children with autism spectrum disorder or language impairment

MacFarlane H¹, Gorman K^1,2, Ingham R¹, Presmanes Hill A^1,2, Papadakis K¹, Kiss G¹, van Santen J^1,2.

Author information

1

Center for Spoken Language Understanding, Institute on Development & Disability, Oregon Health & Science University, Portland, Oregon, United States of America.

2

Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, United States of America.

Abstract

Deficits in social communication, particularly pragmatic language, are characteristic of individuals with autism spectrum disorder (ASD). Speech disfluencies may serve pragmatic functions such as cueing speaking problems. Previous studies have found that speakers with ASD differ from typically developing (TD) speakers in the types and patterns of disfluencies they produce, but fail to provide sufficiently detailed characterizations of the methods used to categorize and quantify disfluency, making cross-study comparison difficult. In this study we propose a simple schema for classifying major disfluency types, and use this schema in an exploratory analysis of differences in disfluency rates and patterns among children with ASD compared to TD and language impaired (SLI) groups. 115 children ages 4-8 participated in the study (ASD = 51; SLI = 20; TD = 44), completing a battery of experimental tasks and assessments. Measures of morphological and syntactic complexity, as well as word and disfluency counts, were derived from transcripts of the Autism Diagnostic Observation Schedule (ADOS). High inter-annotator agreement was obtained with the use of the proposed schema. Analyses showed ASD children produced a higher ratio of content to filler disfluencies than TD children. Relative frequencies of repetitions, revisions, and false starts did not differ significantly between groups. TD children also produced more cued disfluencies than ASD children.

PMID: 28296973

DOI: 10.1371/journal.pone.0173936