Autisme Information Science

25 mai 2017

Effet bénéfique de l'exercice interventionnel sur le syndrome du Fragile X autistique

Aperçu: G.M.

Le présent article a pour objet de discuter des articles publiés récemment dans la compréhension de l'efficacité de l'exercice interventionnel sur le syndrome du X fragile autiste (SXF), en mettant particulièrement l'accent sur son importance dans l'application clinique chez les patients.

Cette revue décrit l'efficacité bénéfique de l'exercice interventionnel et sa controverse chez les patients atteints de SXF autistiques.

Cette étude fournit également des stratégies d'intervention pour les cliniciens et les scientifiques, que la voie des approches neurophysiologiques selon le niveau d'anomalies physiques et comportementales.

2017 Apr;29(4):760-762. doi: 10.1589/jpts.29.760. Epub 2017 Apr 20.

Beneficial effect of interventional exercise on autistic Fragile X syndrome

Lee S^1,^2,³, Won J^1,^2,³, Park S^2,^3,⁴, Lee SR⁵, Chang KT⁵, Kim JH⁶, Hong Y^1,^2,^3,⁴.

Author information

1: Department of Rehabilitation Science, Graduate School of Inje University, Republic of Korea.
2: u-Healthcare & Anti-aging Research Center (u-HARC), Republic of Korea.
3: Biohealth Products Research Center (BPRC), Inje University, Republic of Korea.
4: Department of Physical Therapy, College of Biomedical Science & Engineering, Inje University, Republic of Korea.
5: National Primate Research Center (NPRC), Korea Research Institute of Bioscience and Biotechnology (KRIBB), Republic of Korea.
6: Institute of Animal Medicine, College of Veterinary Medicine, Gyeongsang National University, Republic of Korea.

Abstract

[Purpose] The purpose of the present review is to discuss recent published articles in the understanding of efficacy of interventional exercise on autistic Fragile X syndrome (FXS) with special emphasis on its significance in clinical application in patients. [Methods] This review article was identified scientifically and/or clinically relevant articles from PubMed that directly/indirectly met the inclusion criteria. [Results] Mutation of fragile X mental retardation 1 (fmr1) gene on the X chromosome is related with loss of fragile X mental retardation protein (FMRP) that affecting physiological and behavioral abnormalities. Autistic FXS individuals exhibit disturbed sleep and altered circadian behavior. Although the underlying molecular mechanisms are not been fully explored, interventional exercise in autistic FXS has been clinically used for the treatment of physiological and behavioral abnormalities as well as psychiatric disorder in autistic FXS. [Conclusion] This review describes beneficial efficacy of interventional exercise and its controversy in patients with autistic FXS. This review also provides interventional strategies for clinicians and scientists that the way of neurophysiological approaches according to the level of physical and behavioral abnormalities.

PMID: 28533625
PMCID: PMC5430288
DOI: 10.1589/jpts.29.760

Comportement restreint et répétitif dans le TSA associé à 17q21.33: gènes priorisés par l'expression dans le cerveau foetal

Aperçu: G.M.

Le trouble du spectre de l'autisme (TSA) est une condition comportementale qui se manifeste dans la petite enfance ou la jeune enfance en tant que déficit dans les compétences de communication et les interactions sociales. Souvent, des comportements répétés et répétitifs (RRB) accompagnent ce trouble. Le TSA est polygénique et génétiquement complexe, donc les chercheurs ont émis l'hypothèse que les analyses de focalisation sur les phénotypes intermédiaires de composants de base, tels que les RRB, peuvent réduire l'hétérogénéité génétique et améliorer le pouvoir statistique.En appliquant cette approche, l'équipe a extrait les données sur les études d'association à l'échelle du génome du Caucase (GWAS) provenant de deux des plus grandes cohortes familiales TSA, de l'Autism Genetics Resource Exchange and Autism Genome Project (AGP).

Sur les 12 RRB mesurés par l'Autism Diagnostic Interview-Revised, sept ont été significativement familiers et substantiellement variables et, par conséquent, ont été testés pour l'association à l'échelle du génome chez 3104 enfants avec diagnostic de TSA dans 2045 familles.

Ces analyses indiquent que le GWAS de caractéristiques héréditaires célibataires de troubles génétiquement complexes suivis d'études de conformation chromosomique dans les tissus pertinents peut réussir à révéler de nouveaux gènes de risque pour les caractéristiques uniques du TSA.

2017 May 23. doi: 10.1038/mp.2017.114.

ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains

Cantor RM^1,², Navarro L¹, Won H³, Walker RL³, Lowe JK³, Geschwind DH^1,^2,³.

Author information

1: Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
2: Department of Psychiatry, Center for Neurobehavioral Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
3: Neurogenetics Program, Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

Abstract

Autism spectrum disorder (ASD) is a behaviorally defined condition that manifests in infancy or early childhood as deficits in communication skills and social interactions. Often, restricted and repetitive behaviors (RRBs) accompany this disorder. ASD is polygenic and genetically complex, so we hypothesized that focusing analyses on intermediate core component phenotypes, such as RRBs, can reduce genetic heterogeneity and improve statistical power. Applying this approach, we mined Caucasian genome-wide association studies (GWAS) data from two of the largest ASD family cohorts, the Autism Genetics Resource Exchange and Autism Genome Project (AGP). Of the 12 RRBs measured by the Autism Diagnostic Interview-Revised, seven were found to be significantly familial and substantially variable, and hence, were tested for genome-wide association in 3104 ASD-affected children from 2045 families. Using a stringent significance threshold (P<7.1 × 10^-9), GWAS in the AGP revealed an association between 'the degree of the repetitive use of objects or interest in parts of objects' and rs2898883 (P<6.8 × 10^-9), which resides within the sixth intron of PHB. To identify the candidate target genes of the associated single-nucleotide polymorphisms at that locus, we applied chromosome conformation studies in developing human brains and implicated three additional genes: SLC35B1, CALCOCO2 and DLX3. Gene expression, brain imaging and fetal brain expression quantitative trait locus studies prioritize SLC35B1 and PHB. These analyses indicate that GWAS of single heritable features of genetically complex disorders followed by chromosome conformation studies in relevant tissues can be successful in revealing novel risk genes for single core features of ASD.Molecular Psychiatry advance online publication, 23 May 2017; doi:10.1038/mp.2017.114.

PMID: 28533516
DOI: 10.1038/mp.2017.114

Les enzymes de remodelage de la chromatine dépendantes de l'ATP CHD6, CHD7 et CHD8 présentent des activités distinctes de liaison et de remodelage des nucléosomes

Aperçu: G.M.

Une bonne régulation de la chromatine est essentielle à la fonction et à la maintenance du génome. La famille de CHD du groupe III d'enzymes de remodelage de la chromatine dépendantes de l'ATP - comprenant CHD6, CHD7, CHD8 et CHD9 - a des rôles bien documentés dans la régulation de la transcription qui ont un impact sur le développement de l'organisme et l'étiologie de la maladie. Ces quatre enzymes sont similaires dans leurs domaines constitutifs, mais ces enzymes remplissent des rôles étonnamment non redondants dans la cellule, avec des déficiences dans les enzymes individuelles conduisant à des états de maladie dissemblables tels que le syndrome de CHARGE ou les troubles du spectre de l'autisme.

Dans l'ensemble, le travail des chercheurs fournit une base mécanique pour les rôles non redondants et les divers états pathologiques mutants, de ces enzymes in vivo.

2017 May 21. pii: jbc.M117.779470. doi: 10.1074/jbc.M117.779470.

The ATP-dependent Chromatin Remodeling Enzymes CHD6, CHD7, and CHD8 Exhibit Distinct Nucleosome Binding and Remodeling Activities

Manning BJ¹, Yusfuzai T².

Author information

1: Dana-Farber Cancer Institute, United States.
2: Dana-Farber Cancer Institute, United States timur_yusufzai@dfci.harvard.edu

Abstract

Proper chromatin regulation is central to genome function and maintenance. The group III CHD family of ATP-dependent chromatin remodeling enzymes--comprising CHD6, CHD7, CHD8, and CHD9--has well-documented roles in transcription regulation impacting both organism development and disease etiology. These four enzymes are similar in their constituent domains, yet these enzymes fill surprisingly non-redundant roles in the cell, with deficiencies in individual enzymes leading to dissimilar disease states such as CHARGE syndrome or autism spectrum disorders. The mechanisms explaining their divergent, non-overlapping functions are unclear. In this study, we performed an in-depth biochemical analysis of purified CHD6, CHD7, and CHD8, and discovered distinct differences in chromatin remodeling specificities and activities among them. We report that CHD6 and CHD7 both bind with high affinity to short linker DNA, while CHD8 requires longer DNA for binding. As a result, CHD8 slides nucleosomes into positions with more flanking linker DNA than does CHD7. Moreover, we found that while CHD7 and CHD8 slide nucleosomes, CHD6 disrupts nucleosomes in a distinct non-sliding manner. The different activities of these enzymes likely lead to differences in chromatin structure, and thereby transcriptional control, at the enhancer and promoter loci where these enzymes bind. Overall, our work provides a mechanistic basis for both the non-redundant roles, and the diverse mutant disease states, of these enzymes in vivo.

PMID: 28533432
DOI: 10.1074/jbc.M117.779470

Les variantions du nombre de copies induisent indépendamment le trouble du spectre de l'autisme

Aperçu: G.M.

L'examen de la variation du nombre de copies (CNV) est essentiel pour comprendre l'étiologie des troubles du spectre de l'autisme liés à la CNV (TSA). Des échantillons d'ADN ont été obtenus auprès de 64 probants avec TSA, qui ont été génotypés sur une plate-forme Affymetrix CytoScan HD.

Au total, 29 CNV, en chevauchement avec 520 gènes, dont 315 gènes OMIM, ont été identifiés.

En outre, MEF2C avec deux cas de chevauchement de la CNV ont également été identifiés.

L'analyse d'enrichissement a montré que les 520 gènes sont probablement liés aux composants de la membrane avec des fonctions de liaison aux protéines impliquées dans les processus métaboliques.

Dans le réseau d'interaction de ces gènes, les gènes TSA connus tiennent principalement une place centrale et les gènes significatifs trouvés dans nos échantillons sont étroitement liés aux gènes TSA connus.

Les CNV devraient être un facteur indépendant pour induire l'autisme. Avec la stratégie de notre étude, nous pourrions trouver les gènes candidats aux TSA par les données de la CNV et examiner une certaine pathogenèse de ce trouble.

Ces CNV ont été associés à un TSA et ils peuvent contribuer au TSA en affectant les gènes liés aux TSA.

2017 May 22. pii: BSR20160570. doi: 10.1042/BSR20160570.

Copy Number Variations independently induce Autism Spectrum Disorder

Xie Y¹, Yuan H², Wang M³, Zhong L⁴, Zhou J⁵, Song B⁶, Yin Q⁷, Sun X⁸.

Author information

1: Key Laboratory for Major Obstetric Diseases of Guangdong Province Guagnzhou, N/A, China fairyfareyj@sina.com.cn.
2: Guangzhou Kingmed center for clinical laboratory Co., Ltd, Guangzhou 510330, Guangdong, PR China, Guanzhou, N/A, China.
3: Shenzhen Following Precision Medical Research Institute, Shenzhen, Guangdong, China, N/A, China.
4: Department of Laboratory Medicine, The First Affiliated Hospital of Sun Yat-sen University Guangzhou, N/A, China.
5: Division of psychology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China;, Shenzhen, China.
6: Key Laboratory for Major Obstetric Diseases of Guangdong Province Guagnzhou, N/A, China.
7: Yucai School, Shenyang 110179，Liaoning, China, Liaoling, N/A, China.
8: Key Laboratory for Major Obstetric Diseases of Guangdong Province Guangzhou, China.

Abstract

The examination of copy number variation (CNV) is critical to understanding the etiology of the CNV-related autism spectrum disorders (ASD). DNA samples were obtained from 64 ASD probands, which were genotyped on an Affymetrix CytoScan HD platform. qPCR or FISH were used as a validation for some novel recurrent CNVs. We further compared the clinical phenotypes of the genes in the DECIPHER database with these overlapping genes. Using vast, readily available databases with previously reported clinically relevant CNVs from human populations, the genes were evaluated using Enrichment Analysis and GO Slim Classification. By using the Ploysearch2 software, we identified the interaction relationship between significant genes and known ASD genes.A total of 29 CNVs, overlapping with 520 genes, including 315 OMIM genes, were identified. Additionally, MEF2C with two cases of CNV overlap were also identified. Enrichment analysis showed that the 520 genes are most likely related to membrane components with protein binding functions involved in metabolic processes. In the interaction network of those genes, the known ASD genes are mostly at the core position and the significant genes found in our samples are closely related to the known ASD genes.CNVs should be an independent factor to induce autism. With the strategy of our study, we could find the ASDs candidate genes by CNVs data and review certain pathogenesis of this disorder. Those CNVs were associated with ASD and they may contribute to ASD by affecting the ASD-related genes.

PMID: 28533427
DOI: 10.1042/BSR20160570

L'excitotoxicité du glutamate induite par l'acide propionique administré par voie orale, un acide gras à chaîne courte peut être améliorée par le pollen d'abeille

Aperçu: G.M.

Les modèles de rongeurs peuvent guider les recherches visant à identifier soit des neuro-toxiques environnementaux, soit des médicaments ayant des effets neuro-thérapeutiques.Ce travail vise à étudier les effets thérapeutiques du pollen d'abeille sur l'excitotoxicité du glutamate cérébral et le l'altération du circuit glutamine-glutamate-gamma amy-butyrique (GABA) induit par l'acide propionique (PPA), un acide gras à chaîne courte, chez les petits de rat.

Les résultats ont montré que le PPA a provoqué de multiples signes d'excitotoxicité, mesurés par l'élévation du glutamate et du ratio glutamate / glutamine et la diminution de GABA, de la glutamine et du ratio GABA / glutamate. Le pollen d'abeille a été efficace pour contrer les effets neurotoxiques de la PPA dans une certaine mesure.En conclusion, le pollen d'abeille démontre des effets d'amélioration sur l'excitotoxicité du glutamate et sur l'altération du circuit glutamine-glutamate-GABA comme deux mécanismes étiologiques dans la neurotoxicité induite par le PPA.

2017 May 22;16(1):96. doi: 10.1186/s12944-017-0485-7.

Glutamate excitotoxicity induced by orally administered propionic acid, a short chain fatty acid can be ameliorated by bee pollen

El-Ansary A^1,^2,^3,⁴, Al-Salem HS⁵, Asma A⁶, Al-Dbass A⁷.

Author information

1: Central Laboratory, Female Center for Medical Studies and Scientific Section, King Saud University, Riyadh, Saudi Arabia. afafkelansary@gmail.com.
2: Autism Research and Treatment Center, Riyadh, Saudi Arabia. afafkelansary@gmail.com.
3: Shaik AL-Amodi Autism Research Chair, King Saud University, Riyadh, Saudi Arabia. afafkelansary@gmail.com.
4: Medicinal Chemistry Department, National Research Centre, Dokki, Cairo, Egypt. afafkelansary@gmail.com.
5: Department of Pharmaceutical Chemistry, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
6: Central Laboratory, Female Center for Medical Studies and Scientific Section, King Saud University, Riyadh, Saudi Arabia.
7: Department of Biochemistry, Science College, King Saud University, Riyadh, Saudi Arabia.

Abstract

BACKGROUND:

Rodent models may guide investigations towards identifying either environmental neuro-toxicants or drugs with neuro-therapeutic effects. This work aims to study the therapeutic effects of bee pollen on brain glutamate excitotoxicity and the impaired glutamine-glutamate- gamma amino butyric acid (GABA) circuit induced by propionic acid (PPA), a short chain fatty acid, in rat pups.

METHODS:

Twenty-four young male Western Albino rats 3-4 weeks of age, and 45-60 g body weight were enrolled in the present study. They were grouped into four equal groups: Group 1, the control received phosphate buffered saline at the same time of PPA adminstration; Group 2, received 750 mg/kg body weight divided into 3 equal daily doses and served as acute neurotoxic dose of PPA; Group 3, received 750 mg/kg body weight divided in 10 equal doses of 75 mg/kg body weight/day, and served as the sub-acute group; and Group 4, the therapeutic group, was treated with bee pollen (50 mg/kg body weight) for 30 days after acute PPA intoxication. GABA, glutamate and glutamine were measured in the brain homogenates of the four groups.

RESULTS:

The results showed that PPA caused multiple signs of excitotoxicity, as measured by the elevation of glutamate and the glutamate/glutamine ratio and the decrease of GABA, glutamine and the GABA/glutamate ratio. Bee pollen was effective in counteracting the neurotoxic effects of PPA to a certain extent.

CONCLUSION:

In conclusion, bee pollen demonstrates ameliorating effects on glutamate excitotoxicity and the impaired glutamine-glutamate-GABA circuit as two etiological mechanisms in PPA-induced neurotoxicity.

PMID: 28532421
DOI: 10.1186/s12944-017-0485-7

24 mai 2017

Incorporer de multiples cibles secondaires dans les essais d'apprentissage pour les personnes avec un diagnostic de trouble du spectre de l'autisme

Aperçu: G.M.

L'étude a comparé les conditions dans lesquelles

(a) une cible secondaire a été présentée avant et après les essais,

(b) deux cibles secondaires ont été présentées à la suite des essais,

(d) aucune cible supplémentaire n'a été présentée.

Les participants ont acquis la majorité des cibles secondaires. Présenter une ou plusieurs cibles secondaires par essai, quelle que soit la localisation de ces cibles secondaires, a augmenté l'efficacité de l'instruction par rapport à une condition sans cible secondaire.

2017 May 17. doi: 10.1002/jaba.396.

Incorporating multiple secondary targets into learning trials for individuals with autism spectrum disorder

Nottingham CL¹, Vladescu JC¹, Kodak T², Kisamore AN¹.

Author information

1: Caldwell University.
2: University of Wisconsin Milwaukee.

Abstract

The current study examined the outcome of presenting multiple secondary targets in learning trials for individuals with autism spectrum disorder. We compared conditions in which (a) a secondary target was presented in the antecedent and consequence of trials, (b) two secondary targets were presented in the consequence of trials, (c) one secondary target was presented in the consequence of each trial, and (d) no additional targets were presented trials. The participants acquired the majority of secondary targets. Presenting one or multiple secondary targets per trial, regardless of the location of these secondary targets, increased the efficiency of instruction in comparison to a condition with no secondary target.

PMID: 28513841

DOI: 10.1002/jaba.396

Des rencontres difficiles: la jeunesse, le l'in(confort) social et l'autistic self

Aperçu: G.M.

Les notions de déficit et de «défectuosité » illustrent l'association entre l'autisme et les relations sociales difficiles. Cette construction a été au centre de la critique des activistes autistes et des chercheurs qui, explorant la socialité des personnes autistes, abordent les problèmes de difficultés sociales en termes d'inégalité et d'inconfort. Dans cet ensemble de débats, l'article analyse les données d'une étude basée au Royaume-Uni sur les récits de santé mentale tirés d'entretiens semi-structurés avec 19 jeunes adultes autistes âgés de 23 à 24 ans. Le NIHR a financé l'étude et ce comité d'éthique des services de la recherche Département National de Santé du Royaume-Uni a approuvé l'éthique. La socialité et les difficultés sociales, les sentiments d'inconfort et les perceptions du moi autiste comme «défectueux» étaient des thèmes de l'étude. En explorant le lien entre l'inégalité, le pouvoir social non-autiste, les peurs de la performance sociale et l'(in)confort qui a soutenu les rapports, l'article explore les conclusions auxquelles les jeunes adultes sont arrivés sur les difficultés sociales. En examinant de manière critique les notions d'amélioration possible, l'article contribue aux débats sur la socialité, la difficulté sociale et le confort en questionnant l'hypothèse selon laquelle la dysfonction sociale est due à une «faute» autistique. L'article se termine par une discussion sur l'inégalité dans les rencontres autistes et non-autistes et sur la dynamique sociale qui nie le confort social des autistes.

2017 May 12;185:9-16. doi: 10.1016/j.socscimed.2017.05.029.

Uneasy encounters: Youth, social (dis)comfort and the autistic self

Coleman-Fountain E¹.

Author information

1: Department of Social Sciences, Northumbria University, Newcastle City Campus, 2 Ellison Pl, Newcastle upon Tyne NE1 8ST, United Kingdom. Electronic address: edmund.coleman-fountain@northumbria.ac.uk

Abstract

Notions of deficit and 'faultiness' shape depictions of the association between autism and uneasy social relationships. That framing has been the focus of critique by autistic activists and scholars who, exploring autistic people's sociality, reframe issues of social difficulty in terms of inequality and discomfort. Located within this set of debates, the article analyses data from a UK based study of mental health narratives derived from semi-structured interviews with 19 autistic young adults aged 23 to 24. The NIHR funded the study, and a UK National Health Service Research Ethics Committee gave ethical approval. Sociality and social difficulties, feelings of discomfort, and perceptions of the autistic self as 'faulty' were themes of the study. Exploring the nexus of inequality, non-autistic social power, fears about social performance and (dis)comfort that underpinned the accounts, the article explores the conclusions the young adults reached about social difficulty. Critically examining notions of improvability, the article contributes to debates about sociality, social difficulty and comfort by questioning the assumption that social dysfunction is due to autistic 'fault'. The article concludes with a discussion of inequality in autistic and non-autistic encounters, and of the social dynamics that deny autistic people social comfort.

PMID: 28531560
DOI: 10.1016/j.socscimed.2017.05.029

Autisme et difficultés d'attachement: chevauchement des symptômes, implications et solutions innovantes

Aperçu: G.M.

Cet article explore le chevauchement des symptômes entre l'autisme et les difficultés d'attachement et suggère des solutions innovantes basées sur la formulation. À l'heure actuelle, les cliniciens éprouvent des difficultés à différencier ces conditions contribuant à un diagnostic erroné. La recherche sur la prévalence des difficultés d'attachement chez les enfants avec autisme ne reflète souvent pas une connaissance détaillée de la théorie de l'attachement. Par conséquent, les études dans ce domaine utilisent des modifications douteuses des mesures de saisie et des méthodes d'analyse. Les résultats de ces études sont confus et incohérents. Cependant, les enfants avec autisme et de leurs parents sont très exposés au risque de développer des modèles d'attachement instables. Les évaluations cliniques basées sur la formulation peuvent être utiles dans ces cas, car elles comprennent la prise en compte des facteurs de développement et relationnels contribuant à la présentation des symptômes.

La recherche suggère que lorsque les parents d'enfants avec autisme établissent des relations sécurisées avec leurs enfants, les résultats sont améliorés.

Par conséquent, les interventions, qui améliorent la synchronie dyadique et la sensibilité des parents, sont susceptibles de bénéficier aux familles vivant avec l'autisme et les difficultés d'attachement.

2017 May 1:1359104517707323. doi: 10.1177/1359104517707323.

Autism and attachment difficulties: Overlap of symptoms, implications and innovative solutions

McKenzie R¹, Dallos R¹.

Author information

1: Plymouth University, UK.

Abstract

This article explores overlap of symptoms between autism and attachment difficulties and suggests innovative solutions based on formulation. Currently, clinicians express difficulties in differentiating between these conditions contributing to misdiagnosis. Research into the prevalence of attachment difficulties among children with autism often fails to reflect detailed knowledge of attachment theory. Consequently, studies in this area employ questionable modifications to attachment measures and methods of analysis. The findings of such studies are confusing and inconsistent. Children with autism and their parents are, however, known to be at high risk of developing insecure attachment patterns. Clinical assessments based on formulation may be helpful in these cases, as they include consideration of developmental and relational factors contributing to symptom presentation. Research suggests that where parents of children with autism establish secure relationships with their children outcomes are improved. Consequently, interventions, which improve dyadic synchrony and sensitivity of parents, are likely to benefit families living with autism and attachment difficulties.

PMID: 28530116
DOI: 10.1177/1359104517707323

Risque d'autisme après un antidépresseur pendant la grossesse

Aperçu: G.M.

Les médicaments avec des antidépresseurs pendant la grossesse ne semblent pas être associés à un risque accru de TSA chez la progéniture. Au lieu de cela, les résultats suggèrent que l'association s'explique par des facteurs liés à la susceptibilité sous-jacente aux troubles psychiatriques. Sur la base de ces résultats, le risque de TSA chez la progéniture ne devrait pas être pris en considération pour refuser le traitement avec des antidépresseurs couramment utilisés chez les femmes enceintes.

2017 May 22:1-10. doi: 10.1017/S0033291717001301.

Autism risk following antidepressant medication during pregnancy

Viktorin A¹, Uher R², Reichenberg A¹, Levine SZ³, Sandin S¹.

Author information

1: Department of Psychiatry,Icahn School of Medicine,Mount Sinai,New York, NY,USA.
2: Department of Psychiatry,Dalhousie University,Halifax,Nova Scotia,Canada.
3: Department of Community Mental Health,University of Haifa,Haifa,Israel.

Abstract

BACKGROUND:

Previous studies have examined if maternal antidepressant medication during pregnancy increase the risk of autism spectrum disorder (ASD) in the offspring, but the results have been conflicting.

METHODS:

In a population-based cohort of 179 007 children born in 2006 and 2007 and followed through 2014 when aged 7 and 8, we estimated relative risks (RRs) of ASD and 95% confidence intervals (CIs) from Cox regression in children exposed to any antidepressant medication during pregnancy, and nine specific antidepressant drugs. Analyses were adjusted for potential confounders and were conducted in the full population sample, and in a clinically relevant sub-sample of mothers with at least one diagnosis of depression or anxiety during life.

RESULTS:

The adjusted RR of ASD in children of mothers who used antidepressant medication during pregnancy was estimated at 1.23 (95% CI 0.96-1.57), and at 1.07 (95% CI 0.80-1.43) in women with a history of depression or anxiety. Analyses of specific antidepressants initially revealed increased RRs of offspring ASD confined to citalopram and escitalopram (RR: 1.47; 95% CI 0.92-2.35) and clomipramine (RR: 2.86; 95% CI 1.04-7.82).

CONCLUSION:

Medication with antidepressants during pregnancy does not appear to be causally associated with an increased risk of ASD in the offspring. Instead, the results suggest that the association is explained by factors related to the underlying susceptibility to psychiatric disorders. Based on these findings, the risk of ASD in the offspring should not be a consideration to withhold treatment with commonly used antidepressant drugs from pregnant women.

PMID: 28528584
DOI: 10.1017/S0033291717001301

La fiabilité Inter évaluateurs de l'entrevue de diagnostic autiste-révisée (ADI-R) dans les paramètres cliniques

Aperçu: G.M.

L'entrevue de diagnostic d'autisme révisée (ADI-R) est considérée comme un outil d'évaluation de premier choix dans le trouble du spectre de l'autisme. Néanmoins, en dépit de son large usage dans la pratique psychiatrique et les recommandations selon diverses directives cliniques, sa fiabilité inter évaluateurs a été confirmée en grande partie dans les milieux de recherche par des intervieweurs spécialement formés et fiables. La fiabilité des évaluations ADI-R chez les cliniciens n'a pas encore été établie. Par conséquent, cette étude a examiné la fiabilité inter évaluateurs spontanée de l'ADI-R dans un contexte clinique clinique naturaliste.

Les résultats appuient les propriétés psychométriques de l'ADI-R en termes de fiabilité inter évaluateurs précédemment rapportés dans les paramètres de recherche et supportent leur généralisation vers des contextes cliniques courants. Les limites de cette étude comprennent une composition d'échantillon non équilibrée.

2017 May 20. doi: 10.1159/000474949.

The Interrater Reliability of the Autism Diagnostic Interview-Revised (ADI-R) in Clinical Settings

Zander E¹, Willfors C, Berggren S, Coco C, Holm A, Jifält I, Kosieradzki R, Linder J, Nordin V, Olafsdottir K, Bölte S.

Author information

1: Center of Neurodevelopmental Disorders (KIND), Pediatric Neuropsychiatry Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Abstract

BACKGROUND:

The Autism Diagnostic Interview-Revised (ADI-R) is considered a first choice assessment tool in autism spectrum disorder. Nevertheless, despite its wide use in psychiatric practice and recommendations by various clinical guidelines, its interrater reliability has predominantly been confirmed in research settings by specially trained, research reliability interviewers. The reliability of ADI-R assessments among clinicians has not yet been established. Therefore, this study examined the spontaneous interrater reliability of the ADI-R in a naturalistic clinical multicenter setting.

SAMPLING AND METHODS:

Ten video-recorded ADI-R administrations were rated by 5 different raters each from a pool of 11 raters affiliated to 8 different clinical sites.

RESULTS:

The interrater reliability for the 12 diagnostic criteria operationalizing autism spectrum disorders according to DSM-IV/ICD-10 in the ADI-R algorithms ranged between G(q,k) (analogous to intraclass correlations) = 0.96 and 0.99 for reciprocal social interaction, 0.96 and 1.00 for communication, and 0.91 and 0.97 for repetitive and restricted behavior. Reliability of diagnostic classification was ĸCohen 0.83.

CONCLUSIONS:

The findings endorse the psychometric properties of ADI-R in terms of interrater reliability previously reported from research settings and support their generalization to common clinical settings. Limitations of this study include an unbalanced sample composition.

PMID:28528329
DOI:10.1159/000474949

Découverte des séquences comportementales récurrentes dans l'activité sociale du rat Wistar: soutien possible aux études sur les troubles du spectre de l'autisme

Aperçu: G.M.

Cette étude a été entreprise pour étudier si, dans les activités interactives du rat, des séquences récurrentes d'événements comportementaux pourraient être identifiées et comment et dans quelle mesure chaque composante de la paire est impliquée. À cette fin, l'analyse multivariée du motif temporel (t-pattern) a été appliquée aux interactions sociales de 9 paires de rats Wistar mâles testés en champ ouvert.

Les résultats montrent que l'activité de deux rats Wistar en interaction est structurée sur la base de plusieurs séquences temporelles récurrentes. En outre, les interactions sociales semblent être exprimées aussi par des t-patterns où les éléments comportementaux sont réalisés par des animaux qui ne semblent pas interagir. Un soutien de l'analyse du modèle t aux études sur les troubles du spectre de l'autisme est proposé.

2017 May 17. pii: S0304-3940(17)30419-6. doi: 10.1016/j.neulet.2017.05.031.

Discovery of recurring behavioural sequences in Wistar rat social activity: possible support to studies on Autism Spectrum Disorders

Casarrubea M¹, Faulisi F², Cudia A³, Cancemi D³, Cardaci M⁴, Magnusson MS⁵, Crescimanno G⁶.

Author information

1: Dept. of Experimental Biomedicine and Clinical Neurosciences (Bio.Ne.C.), Human Physiology Section "Giuseppe Pagano", Laboratory of Behavioral Physiology, University of Palermo, Palermo, Italy; Technologies of Knowledge Interdepartmental Center (C.I.T.C.), University of Palermo, Palermo, Italy.
2: Dept. of Experimental Biomedicine and Clinical Neurosciences (Bio.Ne.C.), Human Physiology Section "Giuseppe Pagano", Laboratory of Behavioral Physiology, University of Palermo, Palermo, Italy.
3: Dept. of Psychological Sciences, Pedagogy and Formation, University of Palermo, Palermo, Italy.
4: Dept. of Psychological Sciences, Pedagogy and Formation, University of Palermo, Palermo, Italy; Technologies of Knowledge Interdepartmental Center (C.I.T.C.), University of Palermo, Palermo, Italy.
5: Human Behavior Laboratory, University of Iceland, Reykjavik, Iceland.
6: Dept. of Experimental Biomedicine and Clinical Neurosciences (Bio.Ne.C.), Human Physiology Section "Giuseppe Pagano", Laboratory of Behavioral Physiology, University of Palermo, Palermo, Italy; Technologies of Knowledge Interdepartmental Center (C.I.T.C.), University of Palermo, Palermo, Italy. Electronic address: giuseppe.crescimanno@unipa.it

Abstract

This study was undertaken to investigate whether, in rat interactive activities, recurring sequences of behavioural events might be identified and how and to what extent each component of the pair is involved. To this aim, the multivariate temporal-pattern (t-pattern) analysis was applied to the social interactions of 9 pairs of male Wistar rats tested in open field. Interactive activities were classified into intra- and inter-subjects. Quantitative evaluations showed that intra-subject behavioural elements represented 62.37% and inter-subject ones 37.63% of the comprehensive behaviour. T-pattern analysis revealed the presence of 221 different t-patterns organized in four different categories: containing exclusively inter-subject elements; containing both inter- and intra-subject elements; consisting of rat 1 and rat 2 intra-subject elements and, finally, consisting of intra-subject elements carried out by one of the two subjects. Results show that the activity of two interacting Wistar rats is structured on the basis of several recurring temporal sequences. Moreover, social interactions appear to be expressed also by t-patterns where the behavioural elements are carried out by animals seemingly not interacting. A support of t-pattern analysis to studies on Autism Spectrum Disorders is proposed.

PMID: 28527716
DOI: 10.1016/j.neulet.2017.05.031