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

Publication date: 18 Sep 2024 Added to AutiHub: 6 Jul 2026 Type: Article Article language: English
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Authors

Publication authors
22
Publication authors identified as autistic
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

Abstract

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.

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Cited references
45
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Cited author occurrences identified as autistic
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Among occurrences linked to AutiHub author records: 0 / 68 (0.0%). Distinct cited authors identified as autistic: 0 / 789 (0.0%).
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Distinct linked cited authors: 44 / 789 (5.6%)
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68 / 68 (100.0%)
Among linked cited-author occurrences only. Across all cited-author occurrences: 68 / 838 (8.1%). Distinct linked cited authors not identified as autistic: 44 / 44 (100.0%).
6 cited bibliography entries could not be fully enriched from DOI metadata.
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