Autisme Information Science

28 mars 2017

Ne me touchez pas! Les traits autistes modulent les composantes précoces et tardives de l'ERP au cours de la perception visuelle du contact social

Aperçu: G.M.

Bien que les personnes avec un diagnostic de trouble du spectre de l'autisme (TEA) aient des réactions altérées au contact interpersonnel, les corrélats neuronaux sous-jacents demeurent largement inconnus.

Les auteurs émettent l'hypothèse que les personnes ayant des scores élevés au Quotient Autistique (AQ) auraient une hypervigilance tactile relativement élevée, reflétée par les réponses précoces P1 et plus tardives (LPP) positives, deux composantes des potentiels liés aux événements qui servent de marqueurs électrophysiologiques du biais d'anxiété.

Les résultats montrent que les scores AQ ont été corrélés positivement avec l'aversion sociale au toucher, les participants ayant des scores AQ élevés avaient des réponses P1 plus précoces et des réponses LPP plus fortes lorsqu'elles étaient touchées par un contact humain par rapport aux images témoins et un modèle de régression a révélé que P1 précoce et une plus grande amplitude LPP mesurée au cours de l'observation tactile sociale peut prédire avec précision des niveaux plus élevés de traits autistiques.

2017 Mar 24. doi: 10.1002/aur.1762

Don't touch me! autistic traits modulate early and late ERP components during visual perception of social touch

Peled-Avron L¹, Shamay-Tsoory SG¹.

Author information

1: Department of Psychology, University of Haifa, Haifa, Israel.

Abstract

Although individuals with autism spectrum disorder (ASD) have impaired responses to interpersonal touch, the underlying neural correlates remain largely unknown. Here, we examined the neural correlates that underlie interpersonal touch perception in individuals with either high or low autistic traits. Fifty-three participants were classified as having either high or low autistic traits based on their performance on the autism quotient (AQ) questionnaire. We hypothesized that individuals with high AQ scores would have relatively high touch hypervigilance, reflected as earlier P1 and stronger late positive potential (LPP) responses, two components of event-related potentials that serve as electrophysiological markers of anxiety bias. We recorded each participant's electroencephalography activity during presentation of images depicting human touch, object touch, and non-touch control images. Consistent with our hypothesis, AQ scores were positively correlated with social touch aversion. Moreover, participants with high AQ scores had earlier P1 and stronger LPP responses when presented with human touch compared to the control images. Importantly, a regression model revealed that earlier P1 and larger LPP amplitude measured during social touch observation can accurately predict higher autistic trait levels. Taken together, these findings indicate that individuals with high levels of autistic traits may have a hypervigilant response to observed social touch. Autism Res 2017, 0: 000-000. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

PMID: 28339141
DOI: 10.1002/aur.1762

La schizophrénie, les troubles du spectre de l'autisme et obsessionnels sont-ils dissociables sur la base des résultats morphologiques de la neuroimagerie? Une méta-analyse basée sur le voxel

Aperçu: G.M.

Le trouble du spectre de la schizophrénie (SCZD), le trouble du spectre de l'autisme (ASD) et le trouble du spectre obsessionnel-compulsif (OCSD) sont considérés comme trois états psychiatriques distincts avec, selon de prétendus,modèles d'altération cérébrale différents. L'étude a cherché à vérifier si cette différenciation nosographique est effectivement soutenue par différents modèles cérébraux de modification de la matière grise (GM) ou de la substance blanche (MA) selon deux possibilités: (a) pour déterminer si les altérations GM sont spécifiques pour SCZD, ASD et OCSD; Et (b) associer les schémas d'altération cérébrale identifiés aux dysfonctionnements cognitifs au moyen d'une analyse du décodage des lésions.

Les résultats montrent que ces spectres psychiatriques ne présentent pas de schémas distinctifs distincts de modifications; mais qu'ils ont plutôt tous tendance à être distribués dans deux clusters d'altération. Le groupe 1, qui est plus spécifique pour le SCZD, comprend le cortex antérieur insulaire, le cortex cingulaire antérieur, le cortex préfrontal ventromedial et les zones frontopolaires, qui font partie du système de contrôle cognitif. Le groupe 2, qui est plus spécifique à l'OCSD, présente des modèles d'altération occipitale, temporale et pariétale avec implantation de zones sensoriomotrices, prémotrices, visuelles et linguales, formant ainsi un réseau plus associé à l'auditoire, auditif, prémoteur, aux fonctions somatiques visuelles.

Le TSA semble être uniformément réparti dans les deux groupes.

2017 Mar 24. doi: 10.1002/aur.1759.

Are schizophrenia, autistic, and obsessive spectrum disorders dissociable on the basis of neuroimaging morphological findings?: A voxel-based meta-analysis

Cauda F^1,², Costa T¹, Nani A^1,^2,^3,⁴, Fava L^1,^2,³, Palermo S⁵, Bianco F⁶, Duca S^1,², Tatu K^1,², Keller R⁶.

Author information

1: GCS-fMRI, Koelliker Hospital and Department of Psychology, University of Turin, Turin, Italy.
2: Focus Lab, Department of Psychology, University of Turin, Turin, Italy.
3: Department of Science, University of Eastern Piedmont, Italy.
4: Michael Trimble Psychiatric Research Group, University of Birmingham and BSMHFT, Birmingham, UK.
5: Department of Neuroscience, University of Turin, Turin, Italy.
6: Adult Autism Center, Local Health Unit DSM ASL TO2, Turin, Italy.

Abstract

Schizophrenia spectrum disorder (SCZD), autism spectrum disorder (ASD), and obsessive-compulsive spectrum disorder (OCSD) are considered as three separate psychiatric conditions with, supposedly, different brain alterations patterns. From a neuroimaging perspective, this meta-analytic study aimed to address whether this nosographical differentiation is actually supported by different brain patterns of gray matter (GM) or white matter (WM) morphological alterations. We explored two possibilities: (a) to find out whether GM alterations are specific for SCZD, ASD, and OCSD; and (b) to associate the identified brain alteration patterns with cognitive dysfunctions by means of an analysis of lesion decoding. Our analysis reveals that these psychiatric spectra do not present clear distinctive patterns of alterations; rather, they all tend to be distributed in two alteration clusters. Cluster 1, which is more specific for SCZD, includes the anterior insular, anterior cingulate cortex, ventromedial prefrontal cortex, and frontopolar areas, which are parts of the cognitive control system. Cluster 2, which is more specific for OCSD, presents occipital, temporal, and parietal alteration patterns with the involvement of sensorimotor, premotor, visual, and lingual areas, thus forming a network that is more associated with the auditory-visual, auditory, premotor visual somatic functions. In turn, ASD appears to be uniformly distributed in the two clusters. The three spectra share a significant set of alterations. Our new approach promises to provide insight into the understanding of psychiatric conditions under the aspect of a common neurobiological substrate, possibly related to neuroinflammation during brain development. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

PMID: 28339164
DOI: 10.1002/aur.1759

Satisfaction de la relation parentale chez les familles d'enfants avec un trouble du spectre de l'autisme (TSA): Une analyse à plusieurs niveaux

Aperçu: G.M.

Le fait de s'occuper d'un enfant avec un diagnostic de trouble du spectre l'autisme (TSA) a été lié à une série de résultats négatifs pour les parents, mais on en sait moins sur l'impact putatif sur la relation parentale. Les résultats indiquent que les mères et les pères ont déclaré des niveaux similaires de satisfaction de la relation et qu'elle était significativement et négativement associée à la dépression parentale et aux problèmes de comportement de l'enfant avec un diagnostic de TSA. La satisfaction de la relation n'était pas liée aux problèmes de comportement d'un frère, au nombre d'enfants dans le ménage et à la situation socioéconomique de la famille (SEP).

2017 Mar 24. doi: 10.1002/aur.1773.

Parental relationship satisfaction in families of children with autism spectrum disorder (ASD): A multilevel analysis

Langley E¹, Totsika V¹, Hastings RP¹.

Author information

1: Centre for Educational Development, Appraisal and Research (CEDAR), University of Warwick, Coventry, CV4 8UW, United Kingdom.

Abstract

Caring for a child with Autism Spectrum Disorder (ASD) has been linked to a range of negative outcomes for parents but less is known about the putative impact upon the parental couple relationship. The relationship satisfaction of parents of children with ASD was investigated using multilevel modeling. Mothers and fathers (146 couples) reported on their relationship satisfaction, their own well-being, and the behavior problems of the child with ASD and a sibling. Results indicated that mothers and fathers reported similar levels of relationship satisfaction and it was significantly and negatively associated with parental depression and the behavior problems of the child with ASD. Relationship satisfaction was unrelated to the behavior problems of a sibling, the number of children in the household, and family socioeconomic position (SEP). Further longitudinal research that captures a broader range of variables is required to build a theoretical understanding of relationship satisfaction in families of children with ASD. Current evidence suggests that early intervention routes targeting either child behavior problems, parental mental health, or the couple relationship have the potential to benefit inter-connected subsystems within the broader family system. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

KEYWORDS:

ASD; couples; multilevel modeling; relationship satisfaction

PMID: 28339168
DOI: 10.1002/aur.1773

27 mars 2017

Identification des associations probables entre la carence de folate cérébrale et la pathogenèse métabolique et génétique complexe des troubles du spectre de l'autisme grâce à l'utilisation d'une approche pilote de modélisation des interactions

Aperçu: G.M.

Récemment, le déficit en folate cérébral (CFD) a été suggéré d'être impliqué dans la pathogenèse des troubles du spectre de l'autisme (TSA). Cependant, le rôle exact du métabolisme des folates dans la pathogenèse des TSA, l'identification des mécanismes pathogènes sous-jacents et des voies métaboliques altérées restent inexpliqués. Le but de l'étude était d'identifier les liens entre les TSA et le métabolisme cérébral perturbé en mettant l'accent sur le métabolismae anormal du folate.

La stratégie de modélisation utilisée a identifié des interactions déjà connues soutenues par des analyses fondées sur des preuves, mais aussi de nouvelles interactions plausibles qui pourraient être validées dans des études fonctionnelles et / ou cliniques ultérieures

2017 Mar 24. doi: 10.1002/aur.1780.

Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach

Krsička D¹, Geryk J¹, Vlčková M¹, Havlovicová M¹, Macek M Jr¹, Pourová R¹.

Author information

1: Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84, 150 06 Prague, Czech Republic.

Abstract

Recently, cerebral folate deficiency (CFD) was suggested to be involved in the pathogenesis of autism spectrum disorders (ASD). However, the exact role of folate metabolism in the pathogenesis of ASD, identification of underlying pathogenic mechanisms and impaired metabolic pathways remain unexplained. The aim of our study was to develop and test a novel, unbiased, bioinformatics approach in order to identify links between ASD and disturbed cerebral metabolism by focusing on abnormal folate metabolism, which could foster patient stratification and novel therapeutic interventions. An unbiased, automatable, computational workflow interaction model was developed using available data from public databases. The interaction network model of ASD-associated genes with known cerebral expression and function (SFARI) and metabolic networks (MetScape), including connections to known metabolic substrates, metabolites and cofactors involving folates, was established. Intersection of bioinformatically created networks resulted in a limited amount of interaction modules pointing to common disturbed metabolic pathways, linking ASD to CFD. Two independent interaction modules (comprising three pathways) covering enzymes encoded by ASD-related genes and folate cofactors utilizing enzymes were generated. Module 1 suggested possible interference of CFD with serine and lysine metabolism, while module 2 identified correlations with purine metabolism and inosine monophosphate production. Since our approach was primarily conceived as a proof of principle, further amendments of the presented initial model are necessary to obtain additional actionable outcomes. Our modelling strategy identified not only previously known interactions supported by evidence-based analyses, but also novel plausible interactions, which could be validated in subsequent functional and/or clinical studies. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

PMID: 28339176
DOI: 10.1002/aur.1780

La perception de la parole multisensorielle dans le trouble du spectre de l'autisme: du phonème à la perception du mot entier

Aperçu: G.M.

La perception de la parole dans les environnements bruyants est stimulée lorsqu'un auditeur peut voir la bouche du locuteur et intégrer les informations auditives et visuelles de la parole. Les enfants autistes ont une capacité réduite à intégrer l'information sensorielle à travers les modalités, ce qui contribue aux symptômes de base de l'autisme, tels que les déficits dans la communication sociale. L'étude explore les capacités des enfants autistes et les enfants au développement typique (TD) à intégrer les stimuli auditifs et visuels dans divers rapports signal / bruit (SNR).

Au niveau de la reconnaissance des phonèmes, les enfants autistes ont présenté une performance réduite par rapport à leurs pairs TD dans les modalités auditives, visuelles et audiovisuelles. Cependant, contrairement à leur performance au niveau de la reconnaissance des mots entiers, les enfants autistes et TD ont montré des avantages de l'intégration multisensorielle pour la reconnaissance du phonème.

Ainsi, alors que les enfants autistes présentaient des bénéfices multisensoriels typiques lors de la reconnaissance du phonème, ces avantages ne se traduisaient pas par un avantage multisensoriel typique de la reconnaissance du mot entier dans les environnements bruyants.

Nous posons l'hypothèse que les déficiences sensorielles chez les enfants autistes augmentent le seuil de SNR nécessaire pour extraire des informations significatives à partir d'une entrée sensorielle donnée, ce qui entraîne la non-présentation des avantages comportementaux d'informations sensorielles supplémentaires au niveau de la reconnaissance de mots entiers

2017 Mar 24. doi: 10.1002/aur.1776.

Multisensory speech perception in autism spectrum disorder: From phoneme to whole-word perception

Stevenson RA^1,², Baum SH³, Segers M⁴, Ferber S^5,⁶, Barense MD^5,⁶, Wallace MT^7,^8,^9,^10,¹¹.

Author information

1: Department of Psychology, Western University, London, ON, Canada.
2: Brain and Mind Institute, Western University, London, ON, Canada.
3: Department of Psychology, University of Washington, Seattle, WA.
4: York University, Toronto, ON, Canada.
5: Department of Psychology, University of Toronto, Toronto, ON, Canada.
6: Rotman Research Institute, Toronto, ON, Canada.
7: Vanderbilt Brain Institute, Nashville, TN.
8: Vanderbilt Kennedy Center, Nashville, TN, USA.
9: Vanderbilt University, Nashville, TN.
10: Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, Nashville, TN.
11: Department of Psychology, Vanderbilt University, Nashville, TN.

Abstract

Speech perception in noisy environments is boosted when a listener can see the speaker's mouth and integrate the auditory and visual speech information. Autistic children have a diminished capacity to integrate sensory information across modalities, which contributes to core symptoms of autism, such as impairments in social communication. We investigated the abilities of autistic and typically-developing (TD) children to integrate auditory and visual speech stimuli in various signal-to-noise ratios (SNR). Measurements of both whole-word and phoneme recognition were recorded. At the level of whole-word recognition, autistic children exhibited reduced performance in both the auditory and audiovisual modalities. Importantly, autistic children showed reduced behavioral benefit from multisensory integration with whole-word recognition, specifically at low SNRs. At the level of phoneme recognition, autistic children exhibited reduced performance relative to their TD peers in auditory, visual, and audiovisual modalities. However, and in contrast to their performance at the level of whole-word recognition, both autistic and TD children showed benefits from multisensory integration for phoneme recognition. In accordance with the principle of inverse effectiveness, both groups exhibited greater benefit at low SNRs relative to high SNRs. Thus, while autistic children showed typical multisensory benefits during phoneme recognition, these benefits did not translate to typical multisensory benefit of whole-word recognition in noisy environments. We hypothesize that sensory impairments in autistic children raise the SNR threshold needed to extract meaningful information from a given sensory input, resulting in subsequent failure to exhibit behavioral benefits from additional sensory information at the level of whole-word recognition. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

PMID: 28339177
DOI: 10.1002/aur.1776

Apprentissage de la correspondance identitaire des caractères braille pour les lecteurs braille débutants

Aperçu: G.M.

Nous avons enseigné à trois enfants atteints de déficience visuelle à faire des discriminations tactiles de l'alphabet braille dans un format de concordance de à l'échantillon. Afin de minimiser les erreurs des participants, nous avons initialement disposé des caractères braille dans des ensembles de formation dans lesquels il y avait une différence maximale dans le nombre de points dans les stimulus de comparaison cibles et non cibles.

2017 Mar 23. doi: 10.1002/jaba.382.

Teaching identity matching of braille characters to beginning braille readers

Toussaint KA¹, Scheithauer MC², Tiger JH³, Saunders KJ⁴.

Author information

1: University of North Texas.
2: Marcus Autism Center.
3: University of Wisconsin-Milwaukee.
4: University of Kansas.

Abstract

We taught three children with visual impairments to make tactile discriminations of the braille alphabet within a matching-to-sample format. That is, we presented participants with a braille character as a sample stimulus, and they selected the matching stimulus from a three-comparison array. In order to minimize participant errors, we initially arranged braille characters into training sets in which there was a maximum difference in the number of dots comprising the target and nontarget comparison stimuli. As participants mastered these discriminations, we increased the similarity between target and nontarget comparisons (i.e., an approximation of stimulus fading). All three participants' accuracy systematically increased following the introduction of this identity-matching procedure.

PMID: 28332715
DOI: 10.1002/jaba.382

Atributions parentales pour les comportements positifs chez les enfants avec trouble du spectre de l'autisme

Aperçu: G.M.

Les parents d'enfants avec un diagnostic de TSA croyaient que le comportement positif de leur enfant était dû à des facteurs moins internes à l'enfant, moins stables et moins contrôlables par l'enfant que ceux du groupe témoin. Les croyances sur la stabilité étaient associées à la proximité dans la relation parent-enfant. L'âge et le niveau d'incapacité des enfants ainsi que l'éducation des parents étaient associés aux attributions parentales.

2017 Mar 22. doi: 10.1111/jir.12373.

Parental attributions for positive behaviours in children with autism spectrum disorder

Bussanich P¹, Hartley SL¹, Bolt D².

Author information

1: Human Development and Family Studies and Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.
2: Educational Psychology and Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.

Abstract

BACKGROUND:

The present study examined parental attributions for positive child behaviour in children with Autism Spectrum Disorder (ASD) and their association with parent outcomes.

METHOD:

In total, 175 couples who had a child with ASD (5-12 years) completed measures about the child's positive behaviour, ASD symptoms, functional skills and negative behaviour problems, and their own positive and negative affect and closeness in the parent-child relationship. A comparison group of 170 couples who had a child without a neurodevelopmental disability also completed measures.

RESULTS:

Dyadic multilevel models were conducted. Parents of children with ASD believed that their child's positive behaviour was due to factors less internal to the child, less stable and less controllable by the child than the comparison group. Beliefs about stability were associated with closeness in the parent-child relationship. Child age and level of impairment and parent education were associated with parental attributions.

CONCLUSIONS:

Interventions that alter parental attributions may offer pathways to increase closeness in the parent-child relationship.

PMID: 28332245
DOI: 10.1111/jir.12373

Facteurs de risque environnementaux de l'autisme: examen fondé sur des données probantes des revues systématiques et des méta-analyses

Aperçu: G.M.

Les données actuelles suggèrent que plusieurs facteurs environnementaux, dont la vaccination, le tabagisme maternel, l'exposition au thimérosal et les techniques de reproduction assistée les plus probables, ne sont pas liés au risque de TSA. Au contraire, l'âge avancé des parents est associé à un risque accru de TSA. Les complications liées à la naissance associées au traumatisme ou à l'ischémie et à l'hypoxie ont également montré des liens forts avec les TSA, alors que d'autres facteurs liés à la grossesse tels que l'obésité maternelle, le diabète maternel et la césarienne ont montré une association moins forte (mais significative) .

Les revues sur les éléments nutritionnels n'ont pas été concluantes sur les effets néfastes de la carence en acide folique et oméga 3, mais la vitamine D semble être déficiente chez les patients avec un diagnostic de TSA. Les études sur les éléments toxiques ont été largement limitées par leur conception, mais il y a suffisamment de preuves pour l'association entre certains métaux lourds (le mercure inorganique le plus important et le plomb) et le TSA pour mériter une enquête plus approfondie.

2017 Mar 17;8:13. doi: 10.1186/s13229-017-0121-4. eCollection 2017.

Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses

Modabbernia A¹, Velthorst E², Reichenberg A³.

Author information

1: 0000 0001 0670 2351grid.59734.3cDepartment of Psychiatry and Seaver Autism Center, Icahn School of Medicine at Mount Sinai, New York, USA.
2: 0000 0001 0670 2351grid.59734.3cDepartment of Psychiatry and Seaver Autism Center, Icahn School of Medicine at Mount Sinai, New York, USA ; 0000 0001 0670 2351grid.59734.3cDepartment of Preventive Medicine, Icahn School of Medicine at Mount Sinai, New York, USA.
3: 0000 0001 0670 2351grid.59734.3cDepartment of Psychiatry and Seaver Autism Center, Icahn School of Medicine at Mount Sinai, New York, USA ; 0000 0001 0670 2351grid.59734.3cDepartment of Preventive Medicine, Icahn School of Medicine at Mount Sinai, New York, USA ; 0000 0001 0670 2351grid.59734.3cFriedman Brain Institute, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, USA ; 0000 0001 0670 2351grid.59734.3cSeaver Autism Center, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, USA.

Abstract

BACKGROUND:

According to recent evidence, up to 40-50% of variance in autism spectrum disorder (ASD) liability might be determined by environmental factors. In the present paper, we conducted a review of systematic reviews and meta-analyses of environmental risk factors for ASD. We assessed each review for quality of evidence and provided a brief overview of putative mechanisms of environmental risk factors for ASD.

FINDINGS:

Current evidence suggests that several environmental factors including vaccination, maternal smoking, thimerosal exposure, and most likely assisted reproductive technologies are unrelated to risk of ASD. On the contrary, advanced parental age is associated with higher risk of ASD. Birth complications that are associated with trauma or ischemia and hypoxia have also shown strong links to ASD, whereas other pregnancy-related factors such as maternal obesity, maternal diabetes, and caesarian section have shown a less strong (but significant) association with risk of ASD. The reviews on nutritional elements have been inconclusive about the detrimental effects of deficiency in folic acid and omega 3, but vitamin D seems to be deficient in patients with ASD. The studies on toxic elements have been largely limited by their design, but there is enough evidence for the association between some heavy metals (most important inorganic mercury and lead) and ASD that warrants further investigation. Mechanisms of the association between environmental factors and ASD are debated but might include non-causative association (including confounding), gene-related effect, oxidative stress, inflammation, hypoxia/ischemia, endocrine disruption, neurotransmitter alterations, and interference with signaling pathways.

CONCLUSIONS:

Compared to genetic studies of ASD, studies of environmental risk factors are in their infancy and have significant methodological limitations. Future studies of ASD risk factors would benefit from a developmental psychopathology approach, prospective design, precise exposure measurement, reliable timing of exposure in relation to critical developmental periods and should take into account the dynamic interplay between gene and environment by using genetically informed designs.

PMID: 28331572
PMCID: PMC5356236
DOI: 10.1186/s13229-017-0121-4

Évaluation clinique des symptômes autistiques chez les femmes avec anorexie mentale

Aperçu: G.M.

Les symptômes de TSA sont surreprésentés chez les femmes atteintes d'une AN sévère et semblent être associés à d'autres symptômes psychiatriques, ce qui justifie d'autres investigations.

2017 Mar 16;8:12. doi: 10.1186/s13229-017-0128-x. eCollection 2017.

Clinical evaluation of autistic symptoms in women with anorexia nervosa

Westwood H¹, Mandy W², Tchanturia K³.

Author information

1: 0000 0001 2322 6764grid.13097.3cPsychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
2: 0000000121901201grid.83440.3bResearch Department of Clinical, Educational and Health Psychology, University College London, 103 Denmark Hill, London, SE5 8AF UK.
3: 0000 0001 2322 6764grid.13097.3cPsychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK ; 0000 0000 9489 2441grid.428923.6Ilia State University, Tbilisi, Georgia ; 0000 0000 9439 0839grid.37640.36Psychological Medicine Clinical Academic Group, South London and Maudsley NHS Foundation Trust National Eating Disorders Service, London, UK.

Abstract

BACKGROUND:

Despite a suggested link between anorexia nervosa (AN) and autism spectrum disorder (ASD), previous studies have used self-report or diagnostic criteria to assess for ASD in AN populations, rather than direct observation of symptom characteristic of ASD. The aim of this study was to use a standardised, clinical assessment of ASD, the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2), to investigate the presence of autistic symptoms in a cross-sectional sample of women with AN.

METHODS:

Sixty women were recruited from inpatient or day-patient specialist eating disorder services. Each participant underwent the ADOS-2 assessment and completed a set of self-report questionnaires assessing eating disorder pathology and other psychiatric symptoms. IQ was also assessed.

RESULTS:

Fourteen women (23.3%) scored above clinical cutoff for ASD on the ADOS-2. Only eight of these women displayed repetitive or restrictive behaviours, while all 14 had difficulties with social affect. Elevated ASD symptoms were associated with increased alexithymia and obsessive-compulsive symptoms, but not specific eating disorder pathology.

CONCLUSIONS:

ASD symptoms are over-represented in women with severe AN and appear to be associated with other psychiatric symptoms, which warrant further investigation and consideration in treatment.

PMID 28331571
PMCID: PMC5356303
DOI: 10.1186/s13229-017-0128-x

Conditionnement classique pour préserver les effets du traitement à la mélatonine courte chez les enfants ayant un retard de sommeil: une étude pilote

Aperçu: G.M.

Le traitement à la mélatonine est efficace dans le traitement des troubles du sommeil chez les enfants mais les effets disparaissent généralement lorsque le traitement est interrompu. L'étude
vérifie si le conditionnement classique peut aider à préserver les effets du traitement de la mélatonine chez les enfants souffrant de troubles du sommeil, avec ou sans déficit de l'attention avec hyperactivité (TDAH) ou autisme. Le conditionnement classique a été appliqué en ayant des enfants boivent la limonade organique tout en prenant la mélatonine et en employant une lampe de lumière rouge foncée qui a été allumée quand les enfants sont allés se coucher. Le traitement à la mélatonine a été efficace pour faire avancer l'apparition de la mélatonine à faible luminosité et réduire les problèmes d'apparition du sommeil, et des effets positifs ont été constatés sur les problèmes de santé et de comportement. Après arrêt de la mélatonine, le sommeil est revenu aux niveaux de référence.Nous avons constaté que pour les enfants sans comorbidité dans le groupe expérimental, la latence du sommeil et le début du sommeil retardé moins dans la semaine d'arrêt, ce qui suggère un effet de conditionnement classique. Cependant, le conditionnement classique semble contre-productif chez les enfants atteints du TDAH ou de l'autisme.

2017 Mar 9;9:67-79. doi: 10.2147/NSS.S129203. eCollection 2017.

Classical conditioning for preserving the effects of short melatonin treatment in children with delayed sleep: a pilot study

van Maanen A¹, Meijer AM¹, Smits MG², Oort FJ¹.

Author information

1: Research Institute Child Development and Education, University of Amsterdam, Amsterdam.
2: Centre for Sleep-Wake Disorders and Chronobiology, Hospital Gelderse Vallei, Ede, the Netherlands.

Abstract

Melatonin treatment is effective in treating sleep onset problems in children with delayed melatonin onset, but effects usually disappear when treatment is discontinued. In this pilot study, we investigated whether classical conditioning might help in preserving treatment effects of melatonin in children with sleep onset problems, with and without comorbid attention deficit hyperactivity disorder (ADHD) or autism. After a baseline week, 16 children (mean age: 9.92 years, 31% ADHD/autism) received melatonin treatment for 3 weeks and then gradually discontinued the treatment. Classical conditioning was applied by having children drink organic lemonade while taking melatonin and by using a dim red light lamp that was turned on when children went to bed. Results were compared with a group of 41 children (mean age: 9.43 years, 34% ADHD/autism) who received melatonin without classical conditioning. Melatonin treatment was effective in advancing dim light melatonin onset and reducing sleep onset problems, and positive effects were found on health and behavior problems. After stopping melatonin, sleep returned to baseline levels. We found that for children without comorbidity in the experimental group, sleep latency and sleep start delayed less in the stop week, which suggests an effect of classical conditioning. However, classical conditioning seems counterproductive in children with ADHD or autism. Further research is needed to establish these results and to examine other ways to preserve melatonin treatment effects, for example, by applying morning light.

PMID: 28331380
PMCID: PMC5352231
DOI: 10.2147/NSS.S129203

25 mars 2017

*Résultats du diagnostic par séquençage de l'exome chez des patients avec troubles du spectre de l'autisme diagnostiqués ou suspectés

Aperçu: G.M.

L'étude sur le diagnostic par séquençage de l'exome une cohorte de 163 personnes avec troubles du spectre de l'autisme (66,3%) ou des caractéristiques autistiques (33,7%) suggère que ce protocole serait une méthode de diagnostic primaire efficace. De plus, les données recueillies peuvent aider les cliniciens à mieux déterminer quel sous-ensemble de personnes avec troubles du spectre de l'autisme avec des caractéristiques cliniques supplémentaires bénéficieront le plus du diagnostic par séquençage de l'exome.

2017 Feb 8. pii: S0887-8994(16)30572-0. doi: 10.1016/j.pediatrneurol.2017.01.033.

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders

Rossi M¹, El-Khechen D², Black MH², Farwell Hagman KD², Tang S², Powis Z².

Author information

1: Clinical Genomics Department, Ambry Genetics, Aliso Viejo, California. Electronic address: mrossi@ambrygen.com
2: Clinical Genomics Department, Ambry Genetics, Aliso Viejo, California.

Abstract

BACKGROUND:

Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date.

MATERIALS AND METHODS:

We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%).

RESULTS:

The diagnostic yield observed in patients in our cohort was 25.8% (42 of 163) for positive or likely positive findings in characterized disease genes, while a candidate genetic etiology was reported for an additional 3.3% (4 of 120) of patients. Among the positive findings in the patients with autism spectrum disorder or autistic features, 61.9% were the result of de novo mutations. Patients presenting with psychiatric conditions or ataxia or paraplegia in addition to autism spectrum disorder or autistic features were significantly more likely to receive positive results compared with patients without these clinical features (95.6% vs 27.1%, P < 0.0001; 83.3% vs 21.2%, P < 0.0001, respectively). The majority of the positive findings were in recently identified autism spectrum disorder genes, supporting the importance of diagnostic exome sequencing for patients with autism spectrum disorder or autistic features as the causative genes might evade traditional sequential or panel testing.

CONCLUSIONS:

These results suggest that diagnostic exome sequencing would be an efficient primary diagnostic method for patients with autism spectrum disorders or autistic features. Moreover, our data may aid clinicians to better determine which subset of patients with autism spectrum disorder with additional clinical features would benefit the most from diagnostic exome sequencing.

PMID: 28330790
DOI: 10.1016/j.pediatrneurol.2017.01.033