Autisme Information Science

06 mai 2017

Un essai de croisement contrôlé par placebo de la peptine libérant de la gastrine dans l'enfance dans l'autisme

Aperçu: G.M.

L'objectif de cette étude était d'évaluer l'efficacité, la sécurité et la tolérance du peptide libérant de la gastrine (GRP) par rapport au placebo chez les symptômes du trouble du spectre de l'autisme.

Tous les participants étaient des garçons âgés de 4 à 9 ans.

Il y a eu une réduction des scores de la gamme ABC et de ses sous-échelles après utilisation de GRP et du placebo. La réduction a été plus importante avec le GRP, en particulier dans la sous-échelle «hyperactivité et non-conformité», mais il n'y avait pas de différence statistique entre les résultats Après une semaine d'injection, 5 enfants ont montré une amélioration de 25% ou plus dans le score total de l'échelle ABC avec l'utilisation de GRP et 2 avec l'utilisation de placebo; Cependant, il n'y avait pas de différence statistique (P = 0,375). Il n'y a eu aucun effet néfaste, aucun changement dans les signes vitaux ou des anomalies de laboratoire associées à l'utilisation de GRP

2017 Apr 27. doi: 10.1097/WNF.0000000000000213.

A Placebo-Controlled Crossover Trial of Gastrin-Releasing Peptide in Childhood Autism

Marchezan J¹, Becker M, Schwartsmann G, Ohlweiler L, Roesler R, Renck LB, Gonçalves MMM, Ranzan J, Riesgo RDS.

Author information

1: *Postgraduate Program in Child and Adolescent Health, School of Medicine, Federal University of Rio Grande do Sul; †Department of Pediatrics, Child Neurology Unit, Hospital de Clínicas de Porto Alegre; ‡Department of Internal Medicine, School of Medicine, Cancer and Neurobiology Laboratory, Experimental Research Center, Clinical Hospital (CPE-HCPA), §Department of Pharmacology, Institute for Basic Health Sciences, Cancer and Neurobiology Laboratory, Experimental Research Center, Clinical Hospital (CPE-HCPA), and ∥Department of Pediatrics, Child Neurology Unit, Postgraduate Program in Child and Adolescent Health, School of Medicine, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

Abstract

OBJECTIVES:

The aim of this study was to evaluate the efficacy, safety, and tolerability of gastrin-releasing peptide (GRP) compared with placebo in autism spectrum disorder symptoms.

METHODOLOGY:

This is a randomized, double-blind, placebo-controlled crossover trial using GRP 160 pmol/kg for 4 consecutive days in 10 children with autism. Outcomes were measured by the Aberrant Behavior Checklist (ABC) scale.

RESULTS:

All participants were boys, aged between 4 and 9 years. There was a reduction in the scores of the ABC range and its subscales after use GRP and placebo. The reduction was more prominent with GRP, particularly in the subscale "hyperactivity and noncompliance," but there was no statistical difference between the results (P = 0.334). After a week of infusion, 5 children showed improvement of 25% or greater in the total score of the ABC scale with GRP use and 2 with placebo use; however, there was no statistical difference (P = 0.375). There were no adverse effects, changes in vital signs, or laboratory abnormalities associated with the use of GRP.

CONCLUSIONS:

The results of this study, despite the small sample size, reinforce previous data on the safety of the GRP in short-term use. There is a need for further research with other designs and a larger sample size to evaluate the efficacy and safety of GRP in children with autism.

PMID: 28452904
DOI: 10.1097/WNF.0000000000000213

Bases neurobiologiques de la comorbidité de l'autisme et de l'épilepsie: un accent sur le déséquilibre excitation / inhibition

Aperçu: G.M.

Les troubles du spectre de l'autisme (TSA) et l'épilepsie sont des maladies neurologiques courantes de l'enfance, avec une incidence estimée d'environ 0,5 à 1% de la population mondiale. Plusieurs études génétiques, de neuroimagerie et neuropathologiques ont montré clairement que les TSA et l'épilepsie ont des origines développementales et un degré important d'héritabilité. Plus important encore, les TSA et l'épilepsie coexistent souvent chez la même personne, ce qui suggère une base neurodéveloppementale commune pour ces troubles.

Les études d'association à l'échelle du génome ont récemment permis d'identifier un nombre important de gènes impliqués dans les TSA et l'épilepsie, dont certains sont mutés dans les syndromes présentant des caractéristiques cliniques du TSA et de l'épilepsie.

Au niveau cellulaire, les études précliniques et cliniques indiquent que les différentes causes génétiques de la TSA et de l'épilepsie peuvent converger vers une perturbation de l'équilibre excitation / inhibition (E / I), en raison du dysfonctionnement des circuits excitateurs et inhibiteurs dans différentes régions du cerveau .

Les dysfonctionnements métaboliques et immunitaires, ainsi que les causes environnementales, contribuent également à la pathogenèse des TSA.

Ainsi, un déséquilibre E / I résultant de déficits neurodéveloppementaux d'origines multiples pourrait représenter un mécanisme pathogène commun pour les deux troubles.

2017 Apr 27. doi: 10.1111/ejn.13595.

Neurobiological bases of autism-epilepsy comorbidity: a focus on excitation/inhibition imbalance

Bozzi Y^1,², Provenzano G³, Casarosa S^2,⁴.

Author information

1: Neurodevelopmental Disorders Research Group, Centre for Mind/Brain Sciences, University of Trento, Italy.
2: CNR Neuroscience Institute, Pisa, Italy.
3: Laboratory of Molecular Neuropathology, Centre for Integrative Biology, University of Trento, Italy.
4: Laboratory of Neural Development and Regeneration, Centre for Integrative Biology, University of Trento, Italy.

Abstract

Autism spectrum disorders (ASD) and epilepsy are common neurological diseases of childhood, with an estimated incidence of approximately 0.5 - 1% of the worldwide population. Several genetic, neuroimaging and neuropathological studies clearly showed that both ASD and epilepsy have developmental origins and a substantial degree of heritability. Most importantly, ASD and epilepsy frequently coexist in the same individual, suggesting a common neurodevelopmental basis for these disorders. Genome-wide association studies recently allowed for the identification of a substantial number of genes involved in ASD and epilepsy, some of which are mutated in syndromes presenting both ASD and epilepsy clinical features. At the cellular level, both pre-clinical and clinical studies indicate that the different genetic causes of ASD and epilepsy may converge to perturb the excitation/inhibition (E/I) balance, due to the dysfunction of excitatory and inhibitory circuits in various brain regions. Metabolic and immune dysfunctions, as well as environmental causes also contribute to ASD pathogenesis. Thus, an E/I imbalance resulting from neurodevelopmental deficits of multiple origins might represent a common pathogenic mechanism for both diseases. Here, we will review the most significant studies supporting these hypotheses. A deeper understanding of the molecular and cellular determinants of autism-epilepsy comorbidity will pave the way to the development of novel therapeutic strategies. This article is protected by copyright. All rights reserved.

PMID: 28452083
DOI: 10.1111/ejn.13595

Augmentation de la réponse du cerveau à l'anticipation de la douleur chez les adultes avec un diagnostic de trouble du spectre de l'autisme et un haut niveau de fonctionnement cognitif

Aperçu: G.M.

Le trouble du spectre de l'autisme (TSA) est marqué par des difficultés socio-communicatives et des anomalies dans le traitement sensoriel.

Les chercheurs ont examiné à la fois la perception de la douleur et l'anticipation chez des adultes ayant un diagnostic de TSA et chez sujets contrôles sans TSA (HC) en utilisant un paradigme de la douleur anticipée combiné à l'imagerie par résonance magnétique fonctionnelle (IRMf) et à l'enregistrement concurrent de la réponse de la conductance de la peau (SCR).

Les participants ont été invités à choisir un niveau de stimulation électrique qui leur semblerait modérément douloureux.

Par rapport au groupe HC, le groupe TSA a choisi un niveau de stimulation plus bas avant l'IRMf. Cependant, les participants avec TSA ont montré une plus grande activation dans le cortex cingulaire antérieur rostral et dorsal lors de l'anticipation de la stimulation, mais pas pendant la délivrance de la stimulation. Il n'y avait pas de différence de groupe significative dans l'activation de l'insula avant l'anticipation ou la perception de la douleur. Cependant, l'activité dans l'insula antérieure gauche était en corrélation avec SCR pendant l'anticipation de la douleur.

Ensemble, ces résultats suggèrent que le TSA est marqué par un niveau de anormalement plus élevé aux stimuli aversifs à venir, qui peuvent refléter l'orientation attentionnelle anormale aux signaux nociceptifs et un échec dans l'inférence interceptive (capacité à évaluer de manière exacte son activité physiologique).

2017 Apr 27. doi: 10.1111/ejn.13598.

Heightened Brain Response to Pain Anticipation in High-Functioning Adults with Autism Spectrum Disorder

Gu X¹, Zhou TJ^2,³, Anagnostou E⁴, Soorya L⁵, Kolevzon A^6,⁷, Hof PR^7,^8,⁹, Fan J^2,^6,^7,^8,⁹.

Author information

1: School of Behavioral and Brain Sciences, The University of Texas at Dallas, Dallas, TX 75235, USA.
2: Department of Psychology, Queens College, The City University of New York, Flushing, NY, 11367, USA.
3: Department of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.
4: Bloorview Research Institute, University of Toronto, Toronto, Canada, M4G 1R8.
5: Department of Psychiatry, Rush University, Chicago, IL, 60612, USA.
6: Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
7: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
8: Fishberg Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
9: Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.

Abstract

Autism spectrum disorder (ASD) is marked by both socio-communicative difficulties and abnormalities in sensory processing. Much of the work on sensory deficits in ASD has focused on tactile sensations and the perceptual aspects of somatosensation, such as encoding of stimulus intensity and location. Although aberrant pain processing has often been noted in clinical observations of patients with ASD, it remains largely uninvestigated. Importantly, the neural mechanism underlying higher-order cognitive aspects of pain processing such as pain anticipation also remains unknown. Here we examined both pain perception and anticipation in high functioning adults with ASD and matched healthy controls (HC) using an anticipatory pain paradigm in combination with functional magnetic resonance imaging (fMRI) and concurrent skin conductance response (SCR) recording. Participants were asked to choose a level of electrical stimulation that would feel moderately painful to them. Compared to HC group, ASD group chose a lower level of stimulation prior to fMRI. However, ASD participants showed greater activation in both rostral and dorsal anterior cingulate cortex during the anticipation of stimulation, but not during stimulation delivery. There was no significant group difference in insular activation during either pain anticipation or perception. However, activity in the left anterior insula correlated with SCR during pain anticipation. Taken together, these results suggest that ASD is marked with aberrantly higher level of sensitivity to upcoming aversive stimuli, which may reflect abnormal attentional orientation to nociceptive signals and a failure in interoceptive inference. This article is protected by copyright. All rights reserved.

PMID: 28452081
DOI: 10.1111/ejn.13598

L'autisme: un transdiagnostic, dimensionnel, élaboté en raisonnant ?

Aperçu: G.M.

Le concept de l'autisme a changé à travers le temps, du concept Bleulerien, qui l'a défini comme l'un des nombreux symptômes de la démence précoce, au concept actuel qui représente un trouble de développement généralisé.

Une possible redéfinition du concept d'autisme peut être une condition dans laquelle la raison d'être du comportement d'un individu diffère qualitativement de celle du milieu social en raison de déficiences cognitives caractéristiques affectant le raisonnement.

Un large concept de psychose pourrait se concentrer sur les déviations dans l'expérience de la réalité résultant de déficiences du raisonnement. Dans cette optique et conforme aux preuves empiriques récentes, il peut être approprié de redéfinir la démence précoce comme un trouble du développement du raisonnement.

Un défi futur de la recherche sur l'autisme peut être de développer des modèles théoriques qui peuvent expliquer l'impact des processus complexes agissant au niveau social en plus des processus neurobiologiques et psychologiques complexes. Ces modèles pourraient bénéficier d'une distinction entre les processus liés à 1) la susceptibilité de base, 2) les processus adaptatifs et 3) les facteurs de décompensation impliqués dans le développement du trouble.

2017 Apr 27. doi: 10.1111/ejn.13599.

Autism: A transdiagnostic, dimensional, construct of reasoning?

Aggernaes B^1,².

Author information

1: Psychiatry Research Unit, Region Zealand, Department of Child and Adolescent Psychiatry, Ny Østergade 12, DK-4000, Roskilde.
2: University of Copenhagen, Faculty of Medical and Health Sciences, Department of Clinical Medicine, Blegdamsvej 3B, DK-2200, København K.

Abstract

The concept of autism has changed across time, from the Bleulerian concept, which defined it as one of several symptoms of dementia praecox, to the present-day concept representing a pervasive development disorder. The present theoretical contribution to this special issue of EJN on autism introduces new theoretical ideas and discusses them in light of selected prior theories, clinical examples, and recent empirical evidence. The overall aim is to identify some present challenges of diagnostic practice and autism research and to suggest new pathways that may help direct future research. Future research must agree on the definitions of core concepts such as autism and psychosis. A possible redefinition of the concept of autism may be a condition in which the rationale of an individual's behaviour differs qualitatively from that of the social environment due to characteristic cognitive impairments affecting reasoning. A broad concept of psychosis could focus on deviances in the experience of reality resulting from impairments of reasoning. In this light and consistent with recent empirical evidence, it may be appropriate to redefine dementia praecox as a developmental disorder of reasoning. A future challenge of autism research may be to develop theoretical models that can account for the impact of complex processes acting at the social level in addition to complex neurobiological and psychological processes. Such models could profit from a distinction among processes related to 1) basic susceptibility, 2) adaptive processes and 3) decompensating factors involved in the development of manifest illness. This article is protected by copyright. All rights reserved.

PMID: 28452080
DOI: 10.1111/ejn.13599

Une enquête sur les préférences des sources d'information des parents d'individus avec un diagnostic de trouble du spectre de l'autisme

Aperçu: G.M.

Pour les parents d'enfants avec un diagnostic de trouble du spectre de l'autisme (TSA), une information de haute qualité, facilement accessible et un réseau de pairs puissant peuvent être la clé pour élever un enfant heureux et sain, et maintenir le bien-être familial.

L'étude porte sur 935 parents en Caroline du Nord (programme TEACCH).

Les données indiquent que les parents présentent des profils de recherche d'informations semblables à à tous les âges, que la disponibilité des informations diminue à mesure que les enfants vieillissent.

Les parents dépendent fortement des sources locales d'information, les préférant à des sources non locales (comme Internet) pour de nombreux types d'informations.

2017 Apr 27. doi: 10.1007/s10803-017-3127-z.

A Survey of Information Source Preferences of Parents of Individuals with Autism Spectrum Disorder

Gibson AN¹, Kaplan S², Vardell E².

Author information

1: The School of Information and Library Science, University of North Carolina at Chapel Hill, 100 Manning Hall, 216 Lenoir Drive CB#3360, Chapel Hill, NC, 27599-3360, USA. angibson@email.unc.edu
2: The School of Information and Library Science, University of North Carolina at Chapel Hill, 100 Manning Hall, 216 Lenoir Drive CB#3360, Chapel Hill, NC, 27599-3360, USA.

Abstract

For parents of children with an Autism spectrum disorder (ASD), high quality, easily accessible information and a strong peer network can be the key to raising a happy, healthy child, and maintaining family well-being and emotional resilience. This article reports the findings of an anonymous survey examining the information source preferences for 935 parents of individuals with ASDs in North Carolina. Data indicates that parents show similar information seeking patterns across the age spectrum, that availability of information (as indicated by overall information source selection) decrease as children age. It also shows that parents rely heavily on local sources of information, preferring them to nonlocal sources (such as the internet) for many types of information.

PMID: 28451948
DOI: 10.1007/s10803-017-3127-z

Continuité et changement, et prédicteurs des symptômes d'anxiété rapportés par les aidants chez les jeunes avec un diagnostic de trouble du spectre de l'autisme: une étude de suivi

Aperçu: G.M.

On sait peu de choses sur la continuité, le changement et les prédicteurs de l'anxiété dans les TSA

Cette étude de suivi a porté sur les changements dans l'anxiété rapportée chez les soignants chez 54 jeunes avec un diagnostic de TSA. Les prédicteurs d'anxiété ultérieure des enfants ont également été examinés. Les symptômes du comportement répétitif du TSA au temps 1, mais pas les symptômes sociaux / de communication, ont prédit les scores d'anxiété totale au Temps 2, au-delà de l'âge de l'enfant, du sexe et des scores de fonctionnement adaptatif, mais cette relation prédictive a été entièrement atténuée par les scores d'anxiété auTemps 1 lorsqu'ils ont été inclus comme une covariable dans le modèle de régression. En explorant la bidirectionnalité entre l'autisme et la symptomatologie de l'anxiété, les scores d'anxiété du temps 1 n'ont pas prédit les symptômes du syndrome du temps 2.

2017 Apr 27. doi: 10.1007/s10803-017-3136-y.

Continuity and Change in, and Child Predictors of, Caregiver Reported Anxiety Symptoms in Young People with Autism Spectrum Disorder: A Follow-Up Study

Teh EJ¹, Chan DM^1,², Tan GKJ^1,³, Magiati I⁴.

Author information

1: Department of Psychology, National University of Singapore, #02-24, Block AS4, 9 Arts Link, 117570, Singapore, Singapore.
2: Autism Resource Centre, Singapore, Singapore.
3: Response Early Intervention and Assessment in Community (REACH) North Mental Health Team, Institute of Mental Health, Singapore, Singapore.
4: Department of Psychology, National University of Singapore, #02-24, Block AS4, 9 Arts Link, 117570, Singapore, Singapore. psyim@nus.edu.sg

Abstract

Little is known about continuity, change and predictors of anxiety in ASD. This follow-up study investigated changes in caregiver-reported anxiety in 54 non-referred youth with ASD after 10-19 months. Earlier child predictors of later anxiety were also examined. Anxiety scores were generally stable. Time 1 ASD repetitive behavior symptoms, but not social/communication symptoms, predicted Time 2 total anxiety scores, over and above child age, gender and adaptive functioning scores, but this predictive relationship was fully mitigated by Time 1 anxiety scores when these were included as a covariate in the regression model. Exploring bi-directionality between autism and anxiety symptomatology, Time 1 anxiety scores did not predict Time 2 ASD symptoms. Preliminary clinical implications and possible future directions are discussed.

PMID: 28451947
DOI: 10.1007/s10803-017-3136-y

«Les points ne se joignent pas": Comprendre les besoins de soutien des familles d'enfants sur le spectre de l'autisme

Aperçu: G.M.

Les parents interrogés ont demandé une prestation de service qui a adopté une approche relationnelle axée sur la famille - qui comprend les besoins spécifiques de toute la famille, établit une relation de travail étroite avec eux et s'assure qu'ils sont soutenus à des moments où les parents et les familles sentent qu'ils en ont le plus besoin.

2017 Apr 1:1362361316687989. doi: 10.1177/1362361316687989. [Epub ahead of print]

'The dots just don't join up': Understanding the support needs of families of children on the autism spectrum

Galpin J¹, Barratt P¹, Ashcroft E¹, Greathead S¹, Kenny L², Pellicano E^2,³.

Author information

1: 1 The Bridge School, UK.
2: 2 UCL Institute of Education, University College London, UK.
3: 3 School of Psychology, University of Western Australia, Australia.

Abstract

Much research has documented the elevated levels of stress experienced by families of autistic children. Yet remarkably little research has examined the types of support that these families perceive to be beneficial to their lives. This study, co-produced by researchers and school-based professionals, sought to establish these families' support needs from their own perspectives. In total, 139 parents of autistic children with additional intellectual disabilities and limited spoken communication, all attending an inner-city London school, participated in an initial survey examining parental wellbeing, self-efficacy and the extent to which they felt supported. Semi-structured interviews were conducted with a subgroup of parents ( n = 17), some of whom reported in the survey that they felt unsupported, in order to gain their in-depth perspectives. The results from both the survey and the interviews suggested that existing support (particularly from formal support services) was not meeting parents' needs, which ultimately made them feel isolated and alienated. Parents who were interviewed called for service provision that adopted a relational, family-centred approach - one that understands the specific needs of the whole family, builds a close working relationship with them and ensures that they are supported at times when the parents and families feel they need it most.

PMID: 28449587
DOI: 10.1177/1362361316687989

05 mai 2017

L'écart des informateurs définit des sous-groupes séparés et cliniquement utiles dans le trouble du spectre de l'autisme

Aperçu: G.M.

La divergence entre les informateurs (parents et enseignants) dans les notes de sévérité des symptômes essentiels se manifeste généralement lors de l'évaluation du trouble du spectre de l'autisme.

Le but de l'étude était d'examiner si le degré de divergence entre les cotes de symptômes de du trouble du point de vue du parent et de l'enseignant définit des sous-groupes distincts et cliniquement significatifs des jeunes avec un diagnostic de TSA.

Le degré de divergence entre les parents et les enseignants à propos de la gravité des symptômes de TSA semble fournir plus d'informations utiles sur le plan clinique que la dépendance à l'égard d'un domaine ou qu'un trouble spécifique des symptômes et offre ainsi une approche novatrice et rentable pour évaluer l'altération fonctionnelle.

Cette conclusion contraste avec les approches de clustering de symptômes existantes dans TSA , qui traitent les profils internes de la sévérité des symptômes comme étant généralisables dans tous les paramètres. La variabilité intra-enfant dans l'expression des symptômes à travers les paramètres peut fournir des informations utiles pour caractériser le phénotype TSA.

2017 Apr 27. doi: 10.1111/jcpp.12730.

Informant discrepancy defines discrete, clinically useful autism spectrum disorder subgroups

Lerner MD¹, De Los Reyes A², Drabick DAG³, Gerber AH¹, Gadow KD⁴.

Author information

1: Department of Psychology, Stony Brook University, Stony Brook, NY, USA.
2: Department of Psychology, University of Maryland, College Park, MD, USA.
3: Department of Psychology, Temple University, Philadelphia, PA, USA.
4: Department of Psychiatry, Stony Brook Medicine, Stony Brook, NY, USA.

Abstract

BACKGROUND:

Discrepancy between informants (parents and teachers) in severity ratings of core symptoms commonly arise when assessing autism spectrum disorder (ASD). Whether such discrepancy yields unique information about the ASD phenotype and its clinical correlates has not been examined. We examined whether degree of discrepancy between parent and teacher ASD symptom ratings defines discrete, clinically meaningful subgroups of youth with ASD using an efficient, cost-effective procedure.

METHODS:

Children with ASD (N = 283; 82% boys; M_age = 10.5 years) were drawn from a specialty ASD clinic. Parents and teachers provided ratings of the three core DSM-IV-TR domains of ASD symptoms (communication, social, and perseverative behavior) with the Child and Adolescent Symptom Inventory-4R (CASI-4R). External validators included child psychotropic medication status, frequency of ASD-relevant school-based services, and the Autism Diagnostic Observation Schedule (ADOS-2).

RESULTS:

Four distinct subgroups emerged that ranged from large between-informant discrepancy (informant-specific) to relative lack of discrepancy (i.e. informant agreement; cross-situational): Moderate Parent/Low Teacher or Low Parent/Moderate Teacher Severity (Discrepancy), and Moderate or High Symptom Severity (Agreement). Subgroups were highly distinct (mean probability of group assignment = 94%). Relative to Discrepancy subgroups, Agreement subgroups were more likely to receive psychotropic medication, school-based special education services, and an ADOS-2 diagnosis. These differential associations would not have been identified based solely on CASI-4R scores from one informant.

CONCLUSIONS:

The degree of parent-teacher discrepancy about ASD symptom severity appears to provide more clinically useful information than reliance on a specific symptom domain or informant, and thus yields an innovative, cost-effective approach to assessing functional impairment. This conclusion stands in contrast to existing symptom clustering approaches in ASD, which treat within-informant patterns of symptom severity as generalizable across settings. Within-child variability in symptom expression across settings may yield uniquely useful information for characterizing the ASD phenotype.

PMID: 28449247
DOI: 10.1111/jcpp.12730

Mémoire à long terme chez les enfants plus âgés / adolescents et les adultes avec un diagnostic de troubles du spectre de l'autisme

Aperçu: G.M.

Les analyses des résultats individuels ont suggéré que la mémoire pour les détails de la plupart des adultes diagnostiqués TSA n'a pas été altérée lors de l'application d'une norme clinique; Cependant, un pourcentage important de ces adultes n'a pas utilisé d'informations thématiques pour organiser l'information narrative, ce qui aurait aidé à se souvenir des histoires. Les jeunes avec et sans TSA avaient des résultats identiques quand les deux étaient à un stade de développement lorsque la mémoire pour les détails est la stratégie principale. Les adultes avec un diagnostic de TSA ont eu de la difficulté à utiliser des stratégies organisationnelles pour soutenir la mémoire épisodique.

2017 Apr 27. doi: 10.1002/aur.1801.

Long-term memory in older children/adolescents and adults with autism spectrum disorder

Williams DL¹, Minshew NJ², Goldstein G³, Mazefsky CA⁴.

Author information

1: Department of Speech-Language Pathology, Duquesne University, Pittsburgh, Pennsylvania.
2: Departments of Psychiatry and Neurology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
3: VA Pittsburgh Healthcare System, Pittsburgh, Pennsylvania.
4: Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

Abstract

This study extends prior memory reports in autism spectrum disorders (ASD) by investigating memory for narratives after longer recall periods and by examining developmental aspects of narrative memory using a cross-sectional design. Forty-seven older children/adolescents with ASD and 31 youth with typical development (TD) and 39 adults with ASD and 45 TD adults were compared on memory for stories from standardized measures appropriate for each age group at three intervals (immediate, 30 min, and 2 day). Both the youth with and without ASD had difficulty with memory for story details with increasing time intervals. More of the youths with ASD performed in the range of impairment when recalling the stories 2 days later as compared to the TD group. The adults with ASD had more difficulty on memory for story details with increasing delay and were poorer at recall of thematic information (needed to create a gist) across the three delay conditions as compared to the TD group. Analyses of the individual results suggested that memory for details of most of the adults with ASD was not impaired when applying a clinical standard; however, a significant percentage of the adults with ASD did not make use of thematic information to organize the narrative information, which would have helped them to remember the stories. The youth with and without ASD performed similarly when both were at a stage of development when memory for details is the primary strategy. The adults with ASD had difficulty with use organizational strategies to support episodic memory. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

PMID: 28448695
DOI: 10.1002/aur.1801

04 mai 2017

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

Aperçu: G.M.

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

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

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

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

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

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

Author information

1: Department of Biochemistry & Molecular Biology, The Pennsylvania State University, University Park, PA, 16802.
2: Biomedical & Translational Informatics Institute, Geisinger Health System, Danville, PA, 17822.
3: Department of Mental Health, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, 21205.
4: Department of Public Health Sciences, University of California, Davis, Davis, CA.
5: The MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA.
6: Department of Pediatrics, Davis School of Medicine, University of California, Sacramento, CA, 95817.
7: Department of Biostatistics and Informatics, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045.

Abstract

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

PMID: 28448694
DOI: 10.1002/aur.1799