The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child.

ABSTRACT: CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents' experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. Thirty-seven semistructured interviews were conducted with parents of children with a diagnosis of CDD, which were coded and analyzed to identify themes. Grief was a nearly universal theme expressed among participants. Parents of younger children discussed grief in the context of receiving the diagnosis, whereas parents of older children indicated they were at different stages along the grieving journey when they received the diagn

SUBMITTER: Demarest S 

PROVIDER: S-EPMC10231496 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature