Les sous-types de comportement social-communicatif déséquilibré et de comportement répétitif restreint du "trouble du spectre de l'autisme" présentent des circuits neuronaux différents

Aperçu: G.M.

La communication sociale (SC) et les comportements répétitifs restreints (CRR) sont des domaines de symptômes diagnostiques de l'autisme. La gravité de la SC et du CRRpeut différer considérablement au sein et entre les individus et peut être étayée par différents circuits neuronaux et mécanismes génétiques.
La modélisation de l'équilibre SC-RRB pourrait aider à identifier comment les circuits neuronaux et les mécanismes génétiques correspondent à une telle hétérogénéité phénotypique. 

Ici, nous avons développé un modèle de stratification phénotypique qui permet des prédictions de sous-types SC = CRR, SC> CRR et CRR> SC très précises (97-99%) hors échantillon. En appliquant ce modèle aux données IRMf à l'état de repos de l'ensemble de données EU-AIMS LEAP (n = 509), nous constatons que si les sous-types phénotypiques partagent de nombreux points communs en termes de connectivité fonctionnelle intrinsèque, ils montrent également des différences réplicables au sein de certains réseaux par rapport à un groupe au développement typique (DT).
Plus précisément, le réseau somatomoteur est hypoconnecté avec les circuits périsylviens en SC> CRR et les circuits d'association visuelle en SC = CRR. Le sous-type SC = CRR montre une hyperconnectivité entre le moteur médial et les circuits de saillance antérieure.
Les gènes qui sont fortement exprimés dans ces réseaux montrent un modèle d'enrichissement différentiel avec des gènes connus associés à l'autisme, indiquant que ces circuits sont affectés par différents mécanismes génomiques associés à l'autisme. 

Ces résultats suggèrent que les sous-types de déséquilibre SC-CRR partagent de nombreux points communs, mais expriment également des différences subtiles dans les circuits neuronaux fonctionnels et les fondements génomiques derrière ces circuits. 

. 2021 May 14;4(1):574. doi: 10.1038/s42003-021-02015-2.

Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry

Natasha Bertelsen  ^{1   2} , Isotta Landi  ¹ , Richard A I Bethlehem  ³ , Jakob Seidlitz  ^{4   5} , Elena Maria Busuoli  ^{1   2} , Veronica Mandelli  ^{1   2} , Eleonora Satta  ¹ , Stavros Trakoshis  ^{1   6} , Bonnie Auyeung  ^{7   8} , Prantik Kundu  ⁹ , Eva Loth  ^{10   11} , Guillaume Dumas  ¹² , Sarah Baumeister  ¹³ , Christian F Beckmann  ¹⁴ , Sven Bölte  ^{15   16   17} , Thomas Bourgeron  ¹² , Tony Charman  ¹⁸ , Sarah Durston  ¹⁹ , Christine Ecker  ²⁰ , Rosemary J Holt  ⁸ , Mark H Johnson  ²¹ , Emily J H Jones  ²² , Luke Mason  ²² , Andreas Meyer-Lindenberg  ²³ , Carolin Moessnang  ²³ , Marianne Oldehinkel  ^{14   24} , Antonio M Persico  ^{25   26} , Julian Tillmann  ^{18   27} , Steve C R Williams  ²⁸ , Will Spooren  ²⁹ , Declan G M Murphy  ^{10   11} , Jan K Buitelaar  ¹⁴ , EU-AIMS LEAP group; Simon Baron-Cohen  ⁸ , Meng-Chuan Lai  ^{8   30   31   32   33} , Michael V Lombardo  ^{34   35}

Collaborators, Affiliations

• PMID: 33990680
• DOI: 10.1038/s42003-021-02015-2

Abstract

Social-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97-99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.

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L'impact de la mise en œuvre du système de communication d'échange d'images - PECS sur la compréhension des instructions chez les enfants avec un diagnostic de "trouble du spectre de l'autisme"

Aperçu: G.M.

Objectif:
Le but de cette étude était d'analyser l'impact de la mise en œuvre du système de communication par échange d'images (PECS) sur la compréhension des instructions par les enfants avec un diagnostic de "troubles du spectre de l'autisme" (dTSA). 

Méthodes: Il s'agit d'une étude longitudinale (N ° 0809/2018). L'échantillon était composé de 20 enfants avec un dTSA non verbaux, 15 garçons et 5 filles, âgés de 6 à 12 ans, évalués et diagnostiqués par une équipe multidisciplinaire selon le DSM-5. Pour évaluer la compréhension des instructions, nous avons utilisé huit instructions visuelles et huit instructions orales, qui ont été appliquées à deux points du programme de mise en œuvre du PECS: les premières phases II et IV. Le programme comprenait 24 séances individuelles d'orthophonie avec la présence d'un membre de la famille et suivait les six phases initialement proposées par le manuel de formation PECS. 

Résultats:
Il y a eu une augmentation expressive de la compréhension de toutes les instructions, dans la comparaison entre les deux moments de l'étude; et cette augmentation était statistiquement significative dans six des instructions orales (p = 0,001) et cinq des instructions visuelles (p = 0,002). 

Conclusion:
Il a été possible d'observer l'impact positif de l'utilisation du PECS dans la compréhension des instructions à la fois visuelles et orales, montrant que ce système fournit non seulement un outil de communication augmentatif ou alternatif permettant aux enfants de s'exprimer, mais favorise également une amélioration significative de la la compréhension des informations contextuelles. 

. 2021 May 5;33(2):e20200041.

doi: 10.1590/2317-1782/20202020041. eCollection 2021.

The Impact of the Implementation of the Picture Exchange Communication System - PECS on Understanding Instructions in Children with Autism Spectrum Disorders

[Article in Portuguese, English]

Patricia de Almeida Santos  ¹ , Daniela Bordini  ² , Monica Scattolin  ² , Graccielle Rodrigues da Cunha Asevedo  ² , Sheila Cavalcante Caetano  ² , Cristiane Silvestre Paula  ² , Jacy Perissinoto  ¹ , Ana Carina Tamanaha  ¹

Affiliations

• PMID: 33978106
• DOI: 10.1590/2317-1782/20202020041

Abstract

in English, Portuguese

Purpose: The purpose of this study was to analyze the impact of the implementation of the Picture Exchange Communication System (PECS) on the comprehension of instructions by children with Autism Spectrum Disorder (ASD).

Methods: This is a longitudinal study (N° 0809/2018). The sample consisted of 20 children with nonverbal ASDs, 15 boys and 5 girls, aged 6 to 12 years, evaluated and diagnosed by a multidisciplinary team according to the DSM-5. For assessment of the comprehension of instructions, we used eight visual instructions and eight oral instructions, which were applied at two points in the PECS Implementation Program: early phases II and IV. The program consisted of 24 individual speech therapy sessions with the presence of a family member and followed the six phases originally proposed by the PECS Training Manual.

Results: There was an expressive increase in the comprehension of all instructions, in the comparison between the two moments of the study; and this increase was statistically significant in six of the oral instructions (p=0.001) and five of the visual ones (p=0.002).

Conclusion: It was possible to observe the positive impact of the use of PECS in the comprehension of both visual and oral instructions, showing that this system not only provides an augmentative or alternative communication tool for the children to express themselves but also promotes significant improvement in the understanding of contextual information.

Effets de la pandémie de COVID-19 sur les soins de santé et les services mentaux: résultats d'une enquête britannique auprès du personnel de première ligne travaillant avec des personnes handicapées mentales et / ou autistes

Aperçu: G.M.

Buts et méthode:
Les services de santé mentale ont changé leur mode de fonctionnement pendant la pandémie de COVID-19. Nous avons étudié les défis et les innovations rapportés par le personnel travaillant dans les services pour les personnes handicapées mentales et / ou autistes dans les secteurs du National Health Service (NHS) et non-NHS, ainsi que dans les milieux hospitaliers et communautaires. 

Résultats:
Les données ont été tirées de 648 membres du personnel qui ont participé à une enquête en ligne à l'échelle du Royaume-Uni. Les problèmes liés au risque d'infection et à l'atténuation étaient plus importants pour les personnes travaillant dans le NHS et les patients hospitalisés. Le personnel communautaire était plus susceptible de s'inquiéter des aspects pratiques d'une transition rapide vers le travail à distance et la participation des patients à distance. Des données qualitatives ont révélé un soutien pour le maintien du travail du personnel à distance et la fourniture de services à distance après la pandémie. 

Implications cliniques:
Compte tenu de l'accent mis actuellement sur le soutien communautaire aux personnes ayant une déficience intellectuelle et / ou l'autisme, la recherche et la pratique clinique devraient se concentrer sur le développement de modèles accessibles et efficaces de prestation de services à distance.

. 2021 May 12;1-7. doi: 10.1192/bjb.202

Effects of the COVID-19 pandemic on mental healthcare and services: results of a UK survey of front-line staff working with people with intellectual disability and/or autism

Rory Sheehan  ¹ , Christian Dalton-Locke  ¹ , Afia Ali  ¹ , Norha Vera San Juan  ² , Vaso Totsika  ¹ , Angela Hassiotis  ¹

Affiliations

• PMID: 33977886
• DOI: 10.1192/bjb.2021.52

Abstract

Aims and method: Mental health services have changed the way they operate during the COVID-19 pandemic. We investigated the challenges and innovations reported by staff working in services for people with intellectual disability and/or autism in National Health Service (NHS) and non-NHS sectors, and in in-patient and community settings.

Results: Data were drawn from 648 staff who participated in a UK-wide online survey. Issues around infection risk and mitigation were more important to those working in the NHS and in-patient settings. Community staff were more likely to express concern about the practicalities of a rapid shift to remote working and engaging patients remotely. Qualitative data revealed support for maintaining remote staff working and remote service provision post-pandemic.

Clinical implications: Given the current emphasis on community support for people with intellectual disability and/or autism, the focus of research and clinical practice should be the development of accessible and effective models of remote service provision.

Keywords: COVID-19; autism; coronavirus; intellectual disability; mental health services.