Deep psychophysiological phenotyping of adolescents and adults with 22q11.2 deletion syndrome: a multilevel approach to defining core disease processes.

BMC psychiatry(2023)

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摘要
Studying 22q11.2DS in adolescence and adulthood via deep phenotyping across multiple clinical and biological domains may significantly increase our knowledge of its core disease processes. Our manuscript describes our ongoing study's protocol in detail. These paradigms could be adapted by clinical researchers studying 22q11.2DS, other CNV/single gene disorders, or idiopathic psychiatric syndromes, as well as by basic researchers who plan to incorporate biobehavioral outcome measures into their studies of 22q11.2DS.
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关键词
(up to 10): 22q11.2DS,DiGeorge syndrome,Velocardiofacial syndrome,Deep phenotyping,Acoustic startle,EEG,Mismatch negativity,Cognition,Psychosis risk
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