Genèse, modélisation et remèdes méthodologiques à l’hétérogénéité de l’autisme

Titre original en anglais : Genesis, modelling and methodological remedies to autism heterogeneity

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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Rabot, J., Rødgaard, E. M., Joober, R., Dumas, G., Bzdok, D., Bernhardt, B., Jacquemont, S., & Mottron, L. (2023). Genesis, modelling and methodological remedies to autism heterogeneity. Neuroscience & Biobehavioral Reviews, 150, 105201. https://doi.org/10.1016/j.neubiorev.2023.105201

Publication date: 26/04/2023 Ajout dans AutiHub: 15/09/2026 Type: Article Langue de l’article: Anglais
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Auteurs

Auteur·ices des publications
8
Auteur·ices de la publication identifié·es comme autistes
1 / 8 (12,5 %)
  1. Juliette Rabot
  2. Eya-Mist Rødgaard *
  3. Ridha Joober
  4. Guillaume Dumas
  1. Danilo Bzdok
  2. Boris Bernhardt
  3. Sebastien Jacquemont
  4. Laurent Mottron

Résumé

Les critères diagnostiques utilisés dans la recherche sur l’autisme ont évolué vers l’inclusion d’une population plus large, parallèlement à des estimations croissantes, mais variables, de la prévalence de l’autisme selon les contextes cliniques et les continents. Un diagnostic catégoriel de trouble du spectre de l’autisme est désormais compatible avec de grandes variations du langage, de l’intelligence, des comorbidités et de la sévérité, conduisant à un échantillon hétérogène d’individus, de plus en plus éloigné des descriptions prototypiques initiales. Nous examinons l’histoire du diagnostic et du sous-typage de l’autisme, ainsi que les données probantes concernant l’hétérogénéité de l’autisme aux niveaux cognitif, neurologique et génétique. Nous décrivons deux stratégies pour aborder le problème de l’hétérogénéité : le regroupement, et une stratégie de recrutement tronqué et compartimentalisé fondée sur la reconnaissance de prototypes. Les avancées réalisées à l’aide des méthodes de regroupement ont été modestes. Nous présentons une nouvelle stratégie alternative pour analyser l’hétérogénéité de l’autisme, en mettant l’accent sur l’incorporation d’échantillons prototypiques dans les cohortes de recherche, la comparaison de sous-groupes définis par des plages spécifiques de valeurs pour les spécificateurs cliniques, et la réévaluation de la généralité des résultats neurobiologiques considérés comme ayant été obtenus à partir de l’ensemble du spectre de l’autisme sur des cohortes prototypiques définies par des valeurs étroites de spécificateurs.

Diagnostic criteria used in autism research have undergone a shift towards the inclusion of a larger population, paralleled by increasing, but variable, estimates of autism prevalence across clinical settings and continents. A categorical diagnosis of autism spectrum disorder is now consistent with large variations in language, intelligence, comorbidity, and severity, leading to a heterogeneous sample of individuals, increasingly distant from the initial prototypical descriptions. We review the history of autism diagnosis and subtyping, and the evidence of heterogeneity in autism at the cognitive, neurological, and genetic levels. We describe two strategies to address the problem of heterogeneity: clustering, and truncated-compartmentalized enrollment strategy based on prototype recognition. The advances made using clustering methods have been modest. We present an alternative, new strategy for dissecting autism heterogeneity, emphasizing incorporation of prototypical samples in research cohorts, comparison of subgroups defined by specific ranges of values for the clinical specifiers, and retesting the generality of neurobiological results considered to be acquired from the entire autism spectrum on prototypical cohorts defined by narrow specifiers values.

Bibliographie citée par cette référence

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Vue d’ensemble de la bibliographie citée

Ces indicateurs décrivent la bibliographie citée par cette publication. Un nom d’auteurice est compté chaque fois qu’il apparaît dans une référence citée : une même personne peut donc être comptée plusieurs fois. Les noms qui ne sont pas encore associés à un·e auteurice déjà présent·e dans AutiHub sont traités comme inconnus, pas comme non autistes. Dernier calcul : 15/09/2026 07:45.

Références citées
160
Avec un DOI
151
Sans DOI, à partir du texte brut de la bibliographie
9
6 / 160 (3,8 %) références citées comprennent au moins une personne identifiée comme autiste.
Références avec données à compléter
4 / 160 (2,5 %)
Références avec noms d’auteurices détectés
156 / 160 (97,5 %)
Sans nom d’auteurice détecté
4
Sans titre structuré
4
Sans identifiant stable
9
Références avec noms bruts d’auteurices restant à vérifier
4
Références avec problème de récupération des métadonnées externes
0
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
3169
À partir du DOI ou de métadonnées externes
3169
À partir du texte brut validé de la bibliographie
0
Noms bruts déjà validés
0
Noms bruts restant à vérifier
10
304 / 3169 (9,6 %) noms sont associés à un·e auteurice déjà présent·e dans AutiHub. 2865 / 3169 (90,4 %) noms ne sont pas encore associés.
Noms associés à une personne identifiée comme autiste
6 / 3169 (0,2 %)
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 : 6 / 304 (2,0 %). Personnes distinctes identifiées comme autistes : 5 / 2832 (0,2 %).
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