Résultats diagnostiques génétiques issus d'un programme de recherche de 10 ans sur l'autisme en Aotearoa Nouvelle-Zélande

Titre original en anglais : Genetic diagnostic outcomes from a 10‐year research programme in autism in Aotearoa New Zealand

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Musgrave, S., Taylor, J., Whitford, W., Garton, A., Poquérusse, J., Hawkins, V., Port, W., Moodley, K. S., Monk, R., Berry, S., Walker, C., Samson, C., Velzian, L., Swan, B., Love, D. R., Hill, R. S., Muir, C., Talkowski, M. E., Lowther, C.,..., & Jacobsen, J. C. (2024). Genetic diagnostic outcomes from a 10‐year research programme in autism in Aotearoa New Zealand. Journal of the Royal Society of New Zealand, 55(6), 2464-2480. https://doi.org/10.1080/03036758.2024.2394128

Date de publication: 18/09/2024 Ajout dans AutiHub: 06/07/2026 Type: Article Langue de l’article: Anglais
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Auteurs

Auteur·ices des publications
22
Auteur·ices de la publication identifié·es comme autistes
1 / 22 (4,5 %)
  1. Suzanne Musgrave
  2. Juliet Taylor
  3. Whitney Whitford
  4. Alexandra Garton
  5. Jessie Poquérusse
  6. Victoria Hawkins
  7. Waiora Port
  8. Kriebashne S. Moodley
  1. Ruth Monk *
  2. Sarah Berry
  3. Caroline Walker
  4. Christopher Samson
  5. Lydia Velzian
  6. Brendan Swan
  7. Donald R. Love
  8. R. Sean Hill
  1. Colette Muir
  2. Michael E. Talkowski
  3. Chelsea Lowther
  4. Russell G. Snell
  5. Klaus Lehnert
  6. Jessie C. Jacobsen

Résumé

L'autisme est une différence neurodéveloppementale relativement fréquente présentant une hétérogénéité phénotypique considérable qui affecte les processus cognitifs, sensoriels et sociaux, et qui coexiste souvent avec d'autres affections. Par conséquent, il n'existe pas de parcours de soutien clinique universel pour les personnes autistes après le diagnostic. La technologie de séquençage de l'ADN a permis la découverte de gènes responsables de l'autisme ou associés à celui-ci. Sans surprise, l'hétérogénéité génétique va de pair avec l'hétérogénéité phénotypique de cette affection ; les variations génétiques causales allant de modifications d'une seule paire de bases à des réarrangements chromosomiques complexes dans plus de 100 gènes différents. Cette étude présente un aperçu (201 personnes) de la population autiste (à la fois orientée cliniquement et auto-orientée) en Aotearoa Nouvelle-Zélande et documente une décennie d'efforts de recherche visant à affiner le diagnostic à l'aide d'une approche flexible et personnalisée de séquençage à l'échelle du génome. Le rendement diagnostique dans cette cohorte phénotypiquement disparate était de 12,9 %, avec 15,9 % supplémentaires de personnes porteuses de variants « probablement causaux », fournissant les bases nécessaires pour adapter les soins cliniques, sociaux et éducatifs. Il est important de noter que cette étude révèle l'utilité diagnostique d'un dépistage génétique personnalisé de l'autisme au sein d'une population autiste phénotypiquement diverse.

Autism is a relatively common neurodevelopmental difference with considerable phenotypic heterogeneity impacting cognitive, sensory, and social processing, and often co-occurs with other conditions. Therefore, there is not a one-size-fits-all clinical support pathway for autistic individuals following diagnosis. DNA sequencing technology has enabled the discovery of genes causative of, or associated with, autism. Unsurprisingly, genetic heterogeneity goes hand-in-hand with the phenotypic heterogeneity for this condition; with causative genetic variation ranging from single base pair changes to complex chromosomal rearrangements in more than 100 different genes. This study captures a snapshot (201 individuals) of the autistic population (both clinically referred and self-referred) in Aotearoa New Zealand and documents a decade's research effort to refine diagnosis using a flexible and customised genome-wide sequencing approach. The diagnostic yield in this phenotypically disparate cohort was 12.9%, with an additional 15.9% of individuals harbouring 'likely causal' variants, providing the groundwork to tailor clinical, social, and educational care. Importantly, this study reveals the diagnostic utility of customised genetic screening for autism across a phenotypically diverse autistic population.

Bibliographie citée par cette référence

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Vue d’ensemble de l’inclusion dans la bibliographie

Ces indicateurs décrivent la bibliographie citée importée pour cette publication. Les métriques de références citées utilisent le total des références citées comme dénominateur. Les métriques d’auteurices cité·es indiquent si elles utilisent toutes les occurrences d’auteurices cité·es ou seulement les occurrences rattachées à des auteurices déjà intégré·es à la base de données AutiHub. Ils utilisent les rattachements mis en cache entre les auteurices cité·es et les auteurices intégré·es à la base de données AutiHub. Dernier calcul : 16/08/2026 11:31.

Références citées
45
Nombre total de références citées intégrées pour cette publication.
Références citées avec un·e auteur·ice identifié·e comme autiste
0 / 45 (0,0 %)
Occurrences d’auteur·ices cité·es identifié·es comme autistes
0 / 838 (0,0 %)
Parmi les occurrences rattachées à des auteurices intégré·es à la base de données AutiHub : 0 / 68 (0,0 %). Auteurices cité·es distinct·es identifié·es comme autistes : 0 / 789 (0,0 %).
Occurrences citées rattachées à la base AutiHub
68 / 838 (8,1 %)
Auteurices cité·es distinct·es rattaché·es : 44 / 789 (5,6 %)
Occurrences rattachées, non identifiées comme autistes
68 / 68 (100,0 %)
Parmi les seules occurrences rattachées. Sur l’ensemble des occurrences d’auteurices cité·es : 68 / 838 (8,1 %). Auteurices cité·es distinct·es rattaché·es, non identifié·es comme autistes : 44 / 44 (100,0 %).
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