The cognitive profile of the schizophrenia-associated 3q29 deletion syndrome and the reciprocal 3q29 duplication syndrome

Individuals with 3q29 deletion syndrome show markedly lower PPVT-5 and Penn-CNB performance than controls, with average deficits of 24.6 and 22.9 points (p<3E-16).

• Why it matters: Small prior samples left uncertainty about how cognition differs between 3q29 deletion and reciprocal duplication, and whether familial background and CHR status shape cognitive outcomes.
• What they did: In the largest evaluated cohort (3q29del n=103, 3q29dup n=38, controls n=54), researchers compared PPVT-5 and Penn-CNB global, domain, and task scores across groups, and tested unaffected relatives (3q29del n=140, 3q29dup n=25, controls n=45).
• The result: Both 3q29del and 3q29dup are linked to significant cognitive impairment versus controls, and 3q29del+CHR shows greater deficits than 3q29del-CHR, supporting routine cognitive testing for both syndromes.

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