Melanie de Wit
mmdewit.bsky.social
Melanie de Wit
@mmdewit.bsky.social
PhD candidate Vrije Universiteit Amsterdam
Studying Autism
(9/9) It was a great pleasure working on this with Morgan Morgan, Ilan Libedinsky, Chloe Austerberry, Sander Begeer, @dr-appie.bsky.social, @angelicaronald.bsky.social and @tincatwin.bsky.social
May 31, 2025 at 9:21 AM
(8/9) To conclude, due to inconsistent associations and limited generalizability, we underscore that the autism polygenic score does not have clinical utility and should only be applied for scientific purposes, with improvements needed for a deeper understanding of autism’s polygenic underpinnings
May 31, 2025 at 9:21 AM
(7/9) We show that the autism polygenic score, as a standalone variable associates consistently with autism diagnostic status but is unable to capture the spectrum’s complex phenotypical and etiological differences and its genetic overlap with other traits and conditions.
May 31, 2025 at 9:21 AM
(6/9) Associations with outcomes other than those mentioned above were inconclusive and effect sizes generally small (median r = 0.03). Hence, our results suggest the autism polygenic score may lack the statistical power to adequately capture polygenic effects.
May 31, 2025 at 9:21 AM
(5/9) Our systematic review also revealed evidence for associations with social behavior, depression, motor skills and physical activity, although these results show incongruency over samples.
May 31, 2025 at 9:21 AM
(4/9) A meta-analysis of nine studies revealed strong evidence for an association between the autism polygenic score and autism diagnosis in independent cohorts (meta-analytic r = 0.158 (95% CI 0.067 – 0.249)), which supports the polygenic score’s specificity.
May 31, 2025 at 9:21 AM
(3/9) The latest autism GWAS, led by @jakobgrove.bsky.social led to a wealth of studies assessing the relations between the autism PGS and various phenotypes. We included a total of 72 of these studies.
May 31, 2025 at 9:21 AM
(2/9) 🧬Genetic factors play a substantial role in the etiology of autism and its co-occurrence with other conditions and traits. We aimed to clarify the associations between the autism polygenic score and autism diagnosis, autistic traits, and related behavioral and neurobiological traits
May 31, 2025 at 9:21 AM