Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?

ABSTRACT: Klinefelter syndrome (KS) is the most frequent sex chromosome aneuploidy in males. KS diagnosis disclosure has an important impact on diagnosis acceptance and the increase in prenatal diagnostic procedures raises questions regarding communication to children/adolescents. Limited data are currently available on this issue. The aim of the study was to investigate aspects like the best timing (when), topics (how), and healthcare professional (who), which, in the opinion of both KS patients and parents, may be considered the best for diagnosis communication to KS children/adolescents. We also analyzed how participants received the communication in real life and evaluated the differences between the responses given by parents who receive KS diagnosis before or after KS patient birth regarding d

SUBMITTER: Aliberti L 

PROVIDER: S-EPMC9270507 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature