06 février 2017

Indices de la non-compréhension des échecs de communication dans le syndrome du X fragile, le syndrome de Down et le trouble du spectre de l'autisme

Aperçu : La capacité à indiquer un échec dans la compéhension d'un message est une compétence pragmatique (sociale) de langage critique pour gérer les ruptures de communication et soutenir les échanges de communication réussis. A la fin de la lecture de cet article, les lecteurs auront appris (1) les profils socio-communicatifs des jeunes avec SXF, SD et TSA, (2) l'importance de signaler la non-compréhension en réponse à un message confus, et (3) la ou les similitudes et les différences de signalisation de non-compréhension chez les jeunes avec SXF (avec et sans TSA), de SD, de TSA idiopathique et de TD. G.M.
 
J Commun Disord. 2017 Jan 26;65:22-34. doi: 10.1016/j.jcomdis.2017.01.003.

Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder

Author information

  • 1Department of Communication Sciences and Disorders, St. John's University, Staten Island, NY, USA. Electronic address: marting@stjohns.edu
  • 2Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL, USA.
  • 3Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Abstract

The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages. Youth with FXS without ASD and those with idiopathic ASD did not differ from controls. No sex differences were detected in any group. Findings contribute to current knowledge of pragmatic profiles in different forms of genetically-based neurodevelopmental disorders associated with intellectual disability, and the role of sex in the expression of such profiles.

LEARNING OUTCOMES:

Upon completion of this article, readers will have learned about: (1) the social-communicative profiles of youth with FXS, DS, and ASD, (2) the importance of signaling noncomprehension in response to a confusing message, and (3) the similarities and differences in noncomprehension signaling in youth with FXS (with and without ASD), DS, idiopathic ASD, and TD.

KEYWORDS:

Autism spectrum disorder; Communication breakdown; Down syndrome; Fragile X syndrome; Noncomprehension; Pragmatic language
PMID: 28161297
DOI: 10.1016/j.jcomdis.2017.01.003

*Efficacité du projet ImPACT, de faible intensité et implanté par le thérapeute, pour améliorer les compétences en communication sociale chez les jeunes enfants avec TSA.

Traduction: G.M.

Dev Neurorehabil. 2017 Feb 2:1-9. doi: 10.1080/17518423.2016.1278054.

Efficacy of low intensity, therapist-implemented Project ImPACT for increasing social communication skills in young children with ASD

Author information

  • 1a Department of Psychology , Michigan State University , East Lansing , MI, USA.
  • 2b AARTS Center , Rush University Medical Center , Chicago , IL , USA.
  • 3c Nisonger Center , The Ohio State University , Columbus , OH , USA.

Abstract

Le projet ImPACT est une intervention comportementale développementale naturaliste (NDBI) pour les jeunes enfants avec TSA. Des recherches préliminaires appuient sa faisabilité et son efficacité en tant qu'interventions à médiation parentale; Cependant, son efficacité en tant qu'intervention de faible intensité, mise en œuvre par un thérapeute n'est pas claire. Un modèle à base de cas multiples a évalué l'effet de 2 h par semaine du projet ImPACT mis en œuvre par le thérapeute sur l'engagement social, le lagage et le jeu chez neuf enfants avec TSA. Les compétences linguistiques et de jeu ont été ciblées séparément pour cinq enfants et pour quatre enfants. Les enfants ont augmenté leurs taux d'engagement social et de lagage lorsque la langue ou le jeu était la seule cible et lorsque le langage et le jeu étaient ciblés ensemble; Cependant, les gains en compétences de jeu n'étaient évidents que lorsqu'ils étaient ciblés séparément. Cette étude appuie l'efficacité du projet ImPACT lorsqu'il est mis en œuvre par des thérapeutes à faible intensité et suggère la façon dont les compétences ciblées peuvent influer sur l'apprentissage des enfants.
Project ImPACT is a Naturalistic Developmental Behavioral Intervention (NDBI) for young children with ASD. Preliminary research supports its feasibility and efficacy as a parent-mediated intervention; however, its efficacy as a low-intensity, therapist-implemented intervention is unclear. A single-case, multiple-baseline design evaluated the effect of 2 h per week of therapist-implemented Project ImPACT on social engagement, language, and play in nine children with ASD. Language and play skills were targeted separately for five children and together for four children. Children increased their rates of social engagement and language when language or play was the sole target and when language and play were targeted together; however, gains in play skills were evident only when they were targeted separately. This study provides support for the efficacy of the Project ImPACT when implemented by therapists at a low intensity and suggests the way in which skills are targeted can affect child learning.
PMID: 28152327
DOI: 10.1080/17518423.2016.1278054

05 février 2017

Quelle est la prévalence du trouble du spectre de l'autisme et des traits autistiques dans la psychose? Une revue systématique

Aperçu: les taux de prévalence des TSA et des traits autistiques chez les personnes avec psychose sont beaucoup plus élevés que dans la population générale. Cela a des implications importantes sur les recherches futures, et des implications cliniques afin de s'assurer que les patients reçoivent le diagnostic et le traitement le plus approprié . G.M.
 
Psychiatry Res. 2017 Jan 7;250:99-105. doi: 10.1016/j.psychres.2017.01.017.

What is the prevalence of autism spectrum disorder and ASD traits in psychosis? A systematic review

Author information

  • 1School of Psychology, The Queen's University of Belfast, Belfast, Northern Ireland, UK. Electronic address: dscroggie03@qub.ac.uk
  • 2Northern Health and Social Care Trust, Antrim, Northern Ireland, UK.
  • 3School of Psychology, The Queen's University of Belfast, Belfast, Northern Ireland, UK.

Abstract

There is increasing evidence to suggest both a symptomatic overlap and a clinically significant degree of co-occurrence between Autism Spectrum Disorders (ASD) and psychotic disorders such as schizophrenia but the nature of such relationships remain unclear. We reviewed the literature reporting prevalence rates of Autistic-like Traits (ALTs) and ASD in populations with a diagnosis of schizophrenia or other psychotic disorder. A search of three large databases was conducted and from this seven studies met the criteria for inclusion. The point prevalence rates for ALTs ranged from 9.6% to 61%, whilst the prevalence rates for diagnosed ASD ranged from <1% to 52% across outpatient and inpatient populations. This suggests that prevalence rates of ALTs and ASD in psychosis populations are much higher than in the general population. This has important implications regarding future research, and clinical implications in terms of ensuring that patients receive the most appropriate diagnosis and treatment.

KEYWORDS:

Asperger's; Autism; Co-morbid; Co-occur; Schizophrenia
PMID: 28152400
DOI: 10.1016/j.psychres.2017.01.017

04 février 2017

Effets de l'exercice aérobie sur le sommeil et les habiletés motrices chez les enfants avec troubles du spectre de l'autisme

Traduction: G.M.  Article de 2015


Neuropsychiatr Dis Treat. 2015 Aug 5;11:1911-20. doi: 10.2147/NDT.S85650. eCollection 2015.

Impact of aerobic exercise on sleep and motor skills in children with autism spectrum disorders - a pilot study

Author information

  • 1Psychiatric clinics of the University of Basel, center for affective, stress and Sleep Disorders (Zass), Basel, Switzerland ; Department of Sport, Exercise and Health, Sport Science Section, University of Basel, Basel, Switzerland.
  • 2Department of Sport, Exercise and Health, Sport Science Section, University of Basel, Basel, Switzerland.
  • 3Psychiatric clinics of the University of Basel, center for affective, stress and Sleep Disorders (Zass), Basel, Switzerland.

Abstract

BACKGROUND:

Les taux de prévalence du trouble du spectre de l'autisme (TSA) ont augmenté de façon spectaculaire au cours des deux dernières décennies. En plus des principaux symptômes tels que la déficience de la communication, des difficultés d'interaction sociale et des modèles de comportements et d'intérêts restreints et stéréotypés, des déficits de sommeil et de compétence motrice (CM) ont également été observés chez les enfants avec TSA. D'autre part, il est prouvé que l'entrainement aérobie (EA) a un impact positif sur le sommeil, et que la formation spécifique améliore les CMs. Le but de la présente étude pilote était donc d'étudier dans quelle mesure une combinaison d'entrainement au CM et EA améliorerait le sommeil et la performance physique dans un petit échantillon d'enfants avec TSA.
Prevalence rates of autism spectrum disorder (ASD) have increased dramatically in the last two decades. In addition to the core symptoms such as impaired communication, difficulties in social interaction, and restricted and stereotypical patterns of behavior and interests, poor sleep and motor skill (MS) deficits have also been observed in children with ASD. On the other hand, there is evidence that aerobic exercise training (AET) has a positive impact on sleep, and that specific training improves MSs. Accordingly, the aim of the present pilot study was to investigate to what extent a combination of AET and MS training (MST) would improve sleep and physical performance in a small sample of children with ASD.

METHODS:

Dix enfants avec TSA (âge moyen: 10 ans) ont participé à l'étude. Après un examen médical approfondi et une évaluation psychiatrique, les enfants ont participé à des séances d'une durée de 60 minutes trois fois par semaine de CM et d'EA pendant trois semaines consécutives. Le sommeil a été évalué à la fois objectivement (sommeil-encéphalographie [sommeil-EEG]) et subjectivement (questionnaire des parents). Les CM ont été évaluées au moyen de batteries de test normalisées. Les parents ont renseigné les registres sur le sommeil et l'humeur, et les cotes d'humeur.
 Ten children with ASD (mean age: 10 years) took part in the study. After a thorough medical examination and psychiatric assessment, children participated in thrice-weekly 60-minute sessions of AET and MST lasting for 3 consecutive weeks. Sleep was assessed both objectively (sleep-encephalography [sleep-EEG]) and subjectively (parents' questionnaire). MSs were assessed via standardized test batteries. Parents completed sleep and mood logs, and ratings of mood.

RESULTS:

Une insomnie légère à modérée a été signalée chez 70% des enfants. Comparativement aux nuits sans CM et sans AE, l'efficacité du sommeil a augmenté (d = 1,07), la latence du sommeil a raccourci (d = 0,38) et le temps de réveil après l'apparition du sommeil a diminué pour 63% de l'échantillon (d = 1,09), évaluée par l'EEG de sommeil. L'humeur du matin, évaluée par les parents, s'est améliorée après trois semaines (d = 0,90), de même que les CM (jeu de balle, exercice d'équilibre: ds> 0,6).
 Mild-to-moderate insomnia was reported in 70% of children. Compared to nights without previous AET and MS, on nights following AET and MS, sleep efficiency increased (d=1.07), sleep onset latency shortened (d=0.38), and wake time after sleep onset decreased for 63% of the sample (d=1.09), as assessed via sleep-EEG. Mood in the morning, as rated by parents, improved after three weeks (d=0.90), as did MSs (ball playing, balance exercise: ds>0.6).

CONCLUSION:

Le schéma des résultats de cette étude pilote suggère que l'EA et l'entrainement aux CM réguliers ont un effet positif sur le sommeil, les CMs et l'humeur chez les enfants avec TSA.
The pattern of results of this pilot study suggests that regular AET and MST impact positively on sleep, MSs, and mood among children with ASD.

PMID: 26346856
PMCID: PMC4531010
DOI: 10.2147/NDT.S85650

03 février 2017

*Développement atypique des premiers circuits corticaux dans un modèle de souris du trouble du spectre de l'autisme

Traduction partielle : G.M.

Cell Rep. 2017 Jan 31;18(5):1100-1108. doi: 10.1016/j.celrep.2017.01.006.

Abnormal Development of the Earliest Cortical Circuits in a Mouse Model of Autism Spectrum Disorder

Author information

  • 1Department of Biology, University of Maryland, College Park, MD 20742, USA.
  • 2Center for Biomedical Engineering and Technology, and Department of Physiology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
  • 3Department of Biology, University of Maryland, College Park, MD 20742, USA. Electronic address: pkanold@umd.edu

Abstract

Le trouble du spectre de l'autisme (TSA) implique des déficits dans le traitement de la parole et du son. Les changements de circuit corticaux au cours du développement précoce contribuent probablement à de tels déficits. Les neurones sous plaques (SPN) forment les premiers microcircuits corticaux et sont nécessaires au développement typique des circuits thalamocorticaux et intracorticaux. L'acide valproïque prénatal (VPA) augmente le risque de TSA, en particulier lorsqu'il est présent pendant une période de temps critique coïncidant avec la genèse de SPN.
 Autism spectrum disorder (ASD) involves deficits in speech and sound processing. Cortical circuit changes during early development likely contribute to such deficits. Subplate neurons (SPNs) form the earliest cortical microcircuits and are required for normal development of thalamocortical and intracortical circuits. Prenatal valproic acid (VPA) increases ASD risk, especially when present during a critical time window coinciding with SPN genesis. 
Using optical circuit mapping in mouse auditory cortex, we find that VPA exposure on E12 altered the functional excitatory and inhibitory connectivity of SPNs. Circuit changes manifested as "patches" of mostly increased connection probability or strength in the first postnatal week and as general hyper-connectivity after P10, shortly after ear opening. 
Ces résultats suggèrent que l'exposition prénatale au VPA affecte gravement la trajectoire du développement des circuits corticaux et que l'activité sensorielle peut exacerber les déficits antérieurs et subtils de la connectivité. Nos résultats identifient la sous-plaque comme un éventuel substrat pathophysiologique commun des déficits dans le TSA.
These results suggest that prenatal VPA exposure severely affects the developmental trajectory of cortical circuits and that sensory-driven activity may exacerbate earlier, subtle connectivity deficits. Our findings identify the subplate as a possible common pathophysiological substrate of deficits in ASD.

PMID: 28147267
DOI: 10.1016/j.celrep.2017.01.006

16 janvier 2017

Microarchitecture osseuse chez des adolescents garçons avec un trouble du spectre de l'autisme

Traduction partielle: G.M.

Bone. 2017 Jan 11. pii: S8756-3282(17)30009-1. doi: 10.1016/j.bone.2017.01.009.

Bone microarchitecture in adolescent boys with autism spectrum disorder

Author information

  • 1Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA 02421, United States; Harvard Medical School, Boston, MA 02115, United States. Electronic address: aneumeyer@mgh.harvard.edu
  • 2Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA 02421, United States.
  • 3Biostatistics Center, Massachusetts General Hospital, Boston, MA 02114, United States.
  • 4Harvard Medical School, Boston, MA 02115, United States; Biostatistics Center, Massachusetts General Hospital, Boston, MA 02114, United States.
  • 5Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA 02421, United States; Harvard Medical School, Boston, MA 02115, United States.
  • 6Harvard Medical School, Boston, MA 02115, United States; Pediatric Endocrine and Neuroendocrine Units, Massachusetts General Hospital, Boston, MA 02114, United States.

Abstract

BACKGROUND:

Les garçons avec trouble du spectre de l'autisme (TSA) ont une densité minérale osseuse de surface (DMOs) inférieure à celle des témoins qui développent typiquement (DT). Des études sur la DMO volumétrique (MDOv) et sur la microarchitecture osseuse fournissent des informations sur le risque de fracture au-delà de celles fournies par la DMOs mais manquent actuellement dans le TSA.
Boys with autism spectrum disorder (ASD) have lower areal bone mineral density (aBMD) than typically developing controls (TDC). Studies of volumetric BMD (vBMD) and bone microarchitecture provide information about fracture risk beyond that provided by aBMD but are currently lacking in ASD.

OBJECTIVES:


To assess ultradistal radius and distal tibia vBMD, bone microarchitecture and strength estimates in adolescent boys with ASD compared to TDC.

DESIGN/METHODS:

Cross-sectional study of 34 boys (16 ASD, 18 TDC) that assessed (i) aBMD at the whole body (WB), WB less head (WBLH), hip and spine using dual X-ray absorptiometry (DXA), (ii) vBMD and bone microarchitecture at the ultradistal radius and distal tibia using high-resolution peripheral quantitative CT (HRpQCT), and (iii) bone strength estimates (stiffness and failure load) using micro-finite element analysis (FEA). We controlled for age in all groupwise comparisons of HRpQCT and FEA measures. Activity questionnaires, food records, physical exam, and fasting levels of 25(OH) vitamin D and bone markers (C-terminal collagen crosslinks and N-terminal telopeptide (CTX and NTX) for bone resorption, N-terminal propeptide of Type 1 procollagen (P1NP) for bone formation) were obtained.

RESULTS:

ASD participants were slightly younger than TDC participants (13.6 vs. 14.2years, p=0.44). Tanner stage, height Z-scores and fasting serum bone marker levels did not differ between groups. ASD participants had higher BMI Z-scores, percent body fat, IGF-1 Z-scores, lower lean mass and aBMD Z-scores than TDC at the WB, WBLH, and femoral neck (P<0.1). At the radius, ASD participants had lower trabecular thickness (0.063 vs. 0.070mm, p=0.004), compressive stiffness (56.7 vs. 69.7kN/mm, p=0.030) and failure load (3.0 vs. 3.7kN, p=0.031) than TDC. ASD participants also had 61% smaller cortical area (6.6 vs. 16.4mm2, p=0.051) and thickness (0.08 vs. 0.22mm, p=0.054) compared to TDC. At the tibia, ASD participants had lower compressive stiffness (183 vs. 210kN/mm, p=0.048) and failure load (9.4 vs. 10.8kN, p=0.043) and 23% smaller cortical area (60.3 vs. 81.5mm2, p=0.078) compared to TDC. A lower proportion of ASD participants were categorized as "very physically active" (20% vs. 72%, p=0.005). Differences in physical activity, calcium intake and IGF-1 responsiveness may contribute to group differences in stiffness and failure load.

CONCLUSION:

Les paramètres micro-architecturaux osseux sont altérés dans le TSA, avec des réductions des estimations de la résistance osseuse (rigidité et rupture de charge) au niveau du radius ultradistal et du tibia distal. Cela peut résulter d'une diminution de l'activité physique et de l'apport en calcium, et d'une diminution de la sensibilité à l'IGF-1.
Bone microarchitectural parameters are impaired in ASD, with reductions in bone strength estimates (stiffness and failure load) at the ultradistal radius and distal tibia. This may result from lower physical activity and calcium intake, and decreased IGF-1 responsiveness.


PMID: 28088646
DOI: 10.1016/j.bone.2017.01.009

L'influence du génotype du transporteur 5-HTTLPR sur la connectivité du cortex cingulaire antérieur subgénale de l'amygdale dans le trouble du spectre de l'autisme

Dev Cogn Neurosci. 2016 Dec 23;24:12-20. doi: 10.1016/j.dcn.2016.12.002.

The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder

Author information

  • 1Department of Psychology, University of Michigan, United States. Electronic address: velasqfr@umich.edu.
  • 2Department of Psychology, University of Michigan, United States.
  • 3Department of Human Genetics, University of Michigan, United States.
  • 4Center for Autism and the Developing Brain, Weill Cornell Medicine, United States.
  • 5Department of Psychology, Neuroscience Program, Department of Psychiatry, Center for Growth and Human Development, University of Michigan, United States.

Abstract

Social deficits in autism spectrum disorder (ASD) are linked to amygdala functioning and functional connection between the amygdala and subgenual anterior cingulate cortex (sACC) is involved in the modulation of amygdala activity. Impairments in behavioral symptoms and amygdala activation and connectivity with the sACC seem to vary by serotonin transporter-linked polymorphic region (5-HTTLPR) variant genotype in diverse populations. The current preliminary investigation examines whether amygdala-sACC connectivity differs by 5-HTTLPR genotype and relates to social functioning in ASD. A sample of 108 children and adolescents (44 ASD) completed an fMRI face-processing task. Youth with ASD and low expressing 5-HTTLPR genotypes showed significantly greater connectivity than youth with ASD and higher expressing genotypes as well as typically developing (TD) individuals with both low and higher expressing genotypes, in the comparison of happy vs. baseline faces and happy vs. neutral faces. Moreover, individuals with ASD and higher expressing genotypes exhibit a negative relationship between amygdala-sACC connectivity and social dysfunction. Altered amygdala-sACC coupling based on 5-HTTLPR genotype may help explain some of the heterogeneity in neural and social function observed in ASD. This is the first ASD study to combine genetic polymorphism analyses and functional connectivity in the context of a social task.

KEYWORDS:

5-HTTLPR; Amygdala; Autism spectrum disorder; Connectivity; Face-processing; Heterogeneity; Serotonin; Subgenual anterior cingulate cortex
PMID: 28088648
DOI: 10.1016/j.dcn.2016.12.002

La nature sociale de la surimitation: aperçus pour l'autisme et le syndrome de Williams

Traduction partielle : G.M.

Cognition. 2017 Jan 12;161:10-18. doi: 10.1016/j.cognition.2017.01.008.

The social nature of overimitation: Insights from Autism and Williams syndrome

Author information

  • 1A.J. Drexel Autism Institute, Drexel University, 3020 Market Street, Suite 560, Philadelphia, PA 19104-3734, USA; Olga Tennison Autism Research Centre, School of Psychology and Public Health, La Trobe University, Bundoora, VIC 3086, Australia. Electronic address: giacomo.vivanti@drexel.edu
  • 2Developmental Neuromotor & Cognition Lab, School of Psychology & Public Health, La Trobe University, Australia.
  • 3Olga Tennison Autism Research Centre, School of Psychology and Public Health, La Trobe University, Bundoora, VIC 3086, Australia.

Abstract

Lors de l'imitation d'actions nouvelles, les enfants d'âge préscolaire avec un développement typique  copient souvent des composantes de la démonstration qui ne sont pas liées à l'objectif de l'action modélisée, phénomène connu sous le nom de «surimitation».
 When imitating novel actions, typically developing preschoolers often copy components of the demonstration that are unrelated to the modeled action's goal, a phenomenon known as 'overimitation'. 
According to the social motivation account, overimitation fulfills social affiliation motives (i.e., the imitator's drive to experience social connectedness with the demonstrator and the social context). Conversely, according to the social-cognitive account, overimitation reflects overattribution of causal relevance (i.e., the imitator's failure to appreciate that some components of the demonstration are not relevant to the action's outcome). Autism Spectrum Disorder (ASD) and William syndrome (WS) are characterized by reduced and enhanced spontaneous social motivation, respectively, as well as similar impairments in social-cognition, thus providing helpful test cases to understand the nature of overimitation. Using a novel eye-tracking paradigm, we examined overimitation in 31 preschoolers with ASD, 18 age- and IQ-matched peers with WS, and 19 age-matched typically developing children.
Nous avons constaté que les enfants avec un syndrome de Williams et les enfants avec un développement typique étaient plus susceptibles de surimiter et d'attirer leur attention sur le visage du modèle lors de la démonstration d'actions causales non pertinentes par rapport à ceux avec TSA.
We found that children with WS and typically developing children were more likely to overimitate, and to increase their attention to the model's face during demonstration of causally irrelevant actions, compared to those with ASD.  
These findings will be discussed in the context of support for the social-motivational account of overimitation.
KEYWORDS: Autism; Imitation; Overimitation; Social learning; Williams syndrome