Melanie de Wit

(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

(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

(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.

(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.

(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.

(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.

(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.

(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

(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 ⤵️

🔎Looking for a clear overview of autism genetics?🔍

This 2021 Psychological Medicine paper provides just that!

www.cambridge.org/core/journal...

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...

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

Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry - Nature Human Behaviour A genome-wide association study of age at onset of walking in over 70,000 infants found 11 significant loci. Age at onset of walking showed SNP heritability of 24%, a reliable polygenic score and gene...

📣Out now 📣

In a GWAS meta-analysis, @angelicaronald.bsky.social and colleagues identified 11 independent genome-wide significant loci associated with age at onset of walking.

www.nature.com/articles/s41...

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?

(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...

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!

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

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!