Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities.

ABSTRACT: Genetic testing is now routinely recommended for autism and/or intellectual disability (ID), but how parents deal with the uncertainties that may be involved has not been explored. We interviewed 28 parents who had received results identifying de novo genetic variants responsible for their offspring's autism. Parents faced six broad types of ambiguities concerning: cause of the de novo variant, likelihood of medical manifestations, children's future independence and support needs, availability of future medical benefits/treatments, potential social benefits and potential social harms. These ambiguities prompted anxiety/stress. Parents tried to manage these uncertainties in several ways: focusing on the child's immediate needs, seeking more information, seeking bases of comparison in other

SUBMITTER: Klitzman R 

PROVIDER: S-EPMC12569323 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature