iiinova — where your digital self keeps evolving

Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(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

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Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(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

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Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(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.

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Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(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.

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Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(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.

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Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(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.

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Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(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.

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Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(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

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Melanie de Wit @mmdewit.bsky.social · 31/05/2025

(1/9) 📣 OUT NOW! 📣 So excited to share that our systematic review and meta-analysis on the autism polygenic score is now published in JAACAP Open @jaacapjournals.bsky.social. doi.org/10.1016/j.ja... A (long) thread of our main findings ⤵️

doi.org

Redirecting

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Psychiatric Genomics Consortium (PGC) @pgcgenetics.bsky.social · 20/05/2025

🔎Looking for a clear overview of autism genetics?🔍 This 2021 Psychological Medicine paper provides just that! www.cambridge.org/core/journal...

cambridge.org

Genetic contributions to autism spectrum disorder | Psychological Medicine | Cambridge Core

Genetic contributions to autism spectrum disorder - Volume 51 Issue 13

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Reposted by Melanie de Wit

Psychiatric Genomics Consortium (PGC) @pgcgenetics.bsky.social · 21/05/2025

Some autistic people are diagnosed early 👶, others much later 🧑‍🎓. This new preprint finds that age of diagnosis links to different genetic and behavioral profiles. Such axes help explain why autism can look so different from one person to another. tinyurl.com/cexv5uh5

tinyurl.com

An axis of genetic heterogeneity in autism is indexed by age at diagnosis and is associated with varying developmental and mental health profiles

There is growing recognition that earliest signs of autism need not clearly manifest in the first three years of life. To what extent is this variation in developmental trajectories associated with ag...

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Reposted by Melanie de Wit

Genetics Network Amsterdam @geneamsterdam.bsky.social · 30/01/2025

(in Dutch): Interessant interview met #GENEAmsterdam wetenschappers @mmdewit.bsky.social en @tincatwin.bsky.social: 'Erfelijk of ontwikkeld: hoe ontstaat autisme?' over hartnekkige misverstanden, de interpretatie van erfelijkheid en de invloed van externe factoren. www.quest.nl/mens/psychol...

quest.nl

Erfelijk of ontwikkeld: hoe ontstaat autisme?

Kinderen krijgen in Nederland gemiddeld pas rond hun vijfde de diagnose 'autisme'. Toch is neurodiversiteit in grote mate erfelijk. Hoe zit dat? Hoe ontstaat autisme?

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Reposted by Melanie de Wit

Michel Nivard @michelnivard.bsky.social · 06/12/2024

No posts yet but this is a grassroots network of Amsterdam geneticists, crosses disciplines, institutions & career stage. All run out of passion on a shoestring budget. Great way to strike up collaborations!

bsky.app

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Melanie de Wit @mmdewit.bsky.social · 05/12/2024

Join us tomorrow for what I'm sure will be an interesting session on Science Outreach!

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Reposted by Melanie de Wit

ntrbiopsy.bsky.social @ntrbiopsy.bsky.social · 02/12/2024

Last Thursday, Thomas and @mmdewit.bsky.social shared insights on sex differences in autism and diagnostic ratios at an #AutismeCafe — bringing science beyond the department. Great discussions with autistic people and parents followed!

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