(1/10) Very grateful to see our paper published in @PsychMedJournal. Let me take you on a brief tour of this family study in individuals with #22q11DS: 
2/10 While we are able to describe risk of neuropsychiatric outcomes at the group level, for individuals with pathogenic variants, our ability regarding individualized outcome prediction lags behind, as does our ability to identify mechanisms and additional factors of impact.
3/10 22q11DS, common among such rare genetic variants, is associated with intellectual disability(~45%) & schizophrenia(~25%). We combined within-family & genetics-first approaches to disentangle effects on key neuropsychiatric traits of 22q11DS; schizophrenia; & parental scores.
4/10 In 82 adults with de novo 22q11.2 deletions (27% with schizophrenia) and their unaffected parents we used dimensional measures of cognitive (IQ), social and motor functioning.
5/10 We identified a significant correlation between parental IQ-scores and offspring IQ-scores, using within-family analyses & formal IQ-testing in all individuals. This association remained after considering the primary effect of 22q11DS & the additional effect of schizophrenia
6/10 These phenotypic results corroborate our recently reported genetic correlation between polygenic score for cognition and IQ-scores in individuals with 22q11DS (@http://rdcu.be/b992F in @NatureMedicine), and…
7/10 … suggest that familial shared genetic, and non-genetic, factors are important in driving cognitive outcomes in the context of a 22q11.2 deletion, regardless of the presence of schizophrenia.
8/10 Moreover, we identified differential patterns of influence of the deletion, schizophrenia, and parental scores across the different phenotypes, suggesting different underlying (non-)genetic mechanisms.
9/10 Such effects may differ across different genetic variants & may relate to their primary associated neuropsychiatric phenotypes...Paving the way for future studies comparing patterns of influence across different genetic variants with neurodevelopmental impact @G2MH_Network
10/10 With many thanks to all participating patients AND their parents, and my colleagues Anne Bassett, @Jacob_Vorstman, and many others.
👉the paper @https://pubmed.ncbi.nlm.nih.gov/33443009/
👉the paper @https://pubmed.ncbi.nlm.nih.gov/33443009/
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