Etude de spectroscopie RM protonique du thalamus chez des jumeaux présentant un trouble du spectre de l'autisme

Titre original en anglais : A proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder

Cette publication est incluse dans le projet « Contributions académiques de personnes autistes sur l’autisme ». un auteur·ice de cette publication est identifié·e comme autiste dans le projet.

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Hegarty, J. P., Gu, M., Spielman, D. M., Cleveland, S. C., Hallmayer, J. F., Lazzeroni, L. C., Raman, M. M., Frazier, T. W., Phillips, J. M., Reiss, A. L., & Hardan, A. Y. (2017). A proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 81, 153-160. https://doi.org/10.1016/j.pnpbp.2017.09.016

Date de publication: 21/09/2017 Ajout dans AutiHub: 05/10/2026 Type: Article Langue de l’article: Anglais
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Auteurs

Auteur·ices des publications
11
Auteur·ices de la publication identifié·es comme autistes
1 / 11 (9,1 %)
  1. John P. Hegarty *
  2. Meng Gu
  3. Daniel M. Spielman
  4. Sue C. Cleveland
  1. Joachim F. Hallmayer
  2. Laura C. Lazzeroni
  3. Mira M. Raman
  4. Thomas W. Frazier
  1. Jennifer M. Phillips
  2. Allan L. Reiss
  3. Antonio Y. Hardan

Résumé

De multiples axes de recherche ont rapporté des anomalies thalamiques chez des personnes présentant un trouble du spectre de l'autisme (TSA), associées à des altérations de la communication sociale (SCI), à des comportements restreints et répétitifs (RRB), ou à des anomalies du traitement sensoriel (SPA). Ainsi, le thalamus pourrait représenter une structure neurobiologique commune partagée entre les domaines symptomatiques du TSA. Des paires de jumeaux de même sexe monozygotes (MZ) et dizygotes (DZ), avec et sans TSA, ont bénéficié d'une évaluation cognitive/comportementale et d'une imagerie par résonance magnétique afin d'évaluer le thalamus. Les neurométabolites ont été mesurés par spectroscopie par résonance magnétique (MRS) 1H à l'aide d'une séquence PRESS multivoxel et ont été rapportés à la créatine+phosphocréatine (tCr). Le N-acétylaspartate (NAA), marqueur de l'intégrité neuronale, était réduit chez les jumeaux présentant un TSA (n=47) par rapport aux témoins au développement typique (TD) (n=33), et ce résultat a été confirmé dans un sous-échantillon de cojumeaux discordants pour le TSA (n=11). Le NAA dans le thalamus était corrélé à un degré similaire avec SCI, RRB et SPA, de sorte qu'une intégrité neuronale réduite était associée à une plus grande sévérité des symptômes. Le glutamate+glutamine (Glx) était également réduit chez les cojumeaux atteints par rapport aux cojumeaux non atteints. En outre, le NAA et le Glx semblaient être principalement médiés par la génétique, sur la base de comparaisons entre des paires de jumeaux MZ et DZ. Ainsi, les anomalies thalamiques pourraient être influencées par une susceptibilité génétique au TSA, mais ne sont probablement pas spécifiques à un domaine.

Multiple lines of research have reported thalamic abnormalities in individuals with autism spectrum disorder (ASD) that are associated with social communication impairments (SCI), restricted and repetitive behaviors (RRB), or sensory processing abnormalities (SPA). Thus, the thalamus may represent a common neurobiological structure that is shared across symptom domains in ASD. Same-sex monozygotic (MZ) and dizygotic (DZ) twin pairs with and without ASD underwent cognitive/behavioral evaluation and magnetic resonance imaging to assess the thalamus. Neurometabolites were measured with 1H magnetic resonance spectroscopy (MRS) utilizing a multi-voxel PRESS sequence and were referenced to creatine+phosphocreatine (tCr). N-acetyl aspartate (NAA), a marker of neuronal integrity, was reduced in twins with ASD (n=47) compared to typically-developing (TD) controls (n=33), and this finding was confirmed in a sub-sample of co-twins discordant for ASD (n=11). NAA in the thalamus was correlated to a similar extent with SCI, RRB, and SPA, such that reduced neuronal integrity was associated with greater symptom severity. Glutamate+glutamine (Glx) was also reduced in affected versus unaffected co-twins. Additionally, NAA and Glx appeared to be primarily genetically-mediated, based on comparisons between MZ and DZ twin pairs. Thus, thalamic abnormalities may be influenced by genetic susceptibility for ASD but are likely not domain-specific.

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Vue d’ensemble de la bibliographie citée

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Références citées
74
Avec un DOI
62
Sans DOI, à partir du texte brut de la bibliographie
10
0 / 74 (0,0 %) références citées comprennent au moins une personne identifiée comme autiste.
Références avec données à compléter
2 / 74 (2,7 %)
Références avec noms d’auteurices détectés
73 / 74 (98,6 %)
Sans nom d’auteurice détecté
1
Sans titre structuré
1
Sans identifiant stable
7
Références avec noms bruts d’auteurices restant à vérifier
0
Références avec problème de récupération des métadonnées externes
1
Ces indicateurs portent sur les références citées affichées sur cette page, après fusion des doublons techniques. Une référence sans DOI peut quand même soutenir les statistiques d’auteurices lorsqu’un titre et des noms d’auteurices sont disponibles.
Noms d’auteurices détectés dans la bibliographie citée
368
À partir du DOI ou de métadonnées externes
368
À partir du texte brut validé de la bibliographie
0
Noms bruts déjà validés
0
Noms bruts restant à vérifier
0
62 / 368 (16,8 %) noms sont associés à un·e auteurice déjà présent·e dans AutiHub. 306 / 368 (83,2 %) noms ne sont pas encore associés.
Noms associés à une personne identifiée comme autiste
0 / 368 (0,0 %)
Calculé sur l’ensemble des noms d’auteurices détectés dans la bibliographie citée. Parmi les noms associés à un·e auteurice déjà présent·e dans AutiHub : 0 / 62 (0,0 %). Personnes distinctes identifiées comme autistes : 0 / 318 (0,0 %).
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