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Shara Reimer @sharareimer.bsky.social · 24/09/2026

Future work can build on these findings by working to improve accuracy in predictions, using larger numbers of families, traits and genetic disorders. Thank you so much to everyone who made this work possible! @bogglerapture.bsky.social

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

These findings add to the growing body of knowledge about proband-family relationships in rare genetic disorders. We find that familial prediction methods can reduce error in IQ prediction, but with a small mean error reduction.

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

However, the mean reduction in error when using the familial model compared to the group mean model was only 2.44 IQ points.

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

A Levene’s test found a significantly different distribution of error (F = 7.6, p = 0.006) between the two models, and errors were more tightly centered around zero with the familial model, suggesting generally improved predictions with family data.

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

We calculated two predicted IQs for each proband, using both the familial model and the group mean model. Then, we calculated the error for each prediction [actual IQ – predicted IQ].

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

Since FSIQ showed the most consistent, significant proband-family relationship across both syndromes, we next investigated how much error we could reduce by using the familial model to predict each proband’s IQ, rather than a karyotype-specific group mean.

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

In XYY syndrome, there was only a significant relationship for social awareness, and it did not survive Bonferroni correction. ADHD-related traits did not show a significant proband-family relationship in either syndrome (all p > 0.05).

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

Autism-related traits showed stronger family-proband relationships in XXY syndrome compared to XYY syndrome. In XXY syndrome, there were significant proband-family relationships for all autism-related traits (p < 0.05). Social awareness and RRB did not survive Bonferroni correction.

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

Using data from 433 participants from 151 families, we found that proband-family relationships differed greatly between traits and karyotypes. In both XXY and XYY syndromes, the greatest concordance was found for full-scale IQ (FSIQ).

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

Our paper is the first to look at proband-family relationships across multiple variables and conditions. Using data from 433 participants from 151 families, we found that proband-family relationships differed greatly between traits and karyotypes.

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

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Shara Reimer @sharareimer.bsky.social · 24/09/2026

Can we better predict neurodevelopmental outcomes for individuals with sex chromosome aneuploidies using personalized methods? Our paper explores the avenue of using data from family members to forecast outcomes, such as IQ and autism-related traits, in males with XXY or XYY syndrome.

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