Background: Kleefstra syndrome (KS) is associated with developmental delay, autism, intellectual disability, psychosis, and regression. Research has not been conducted to assess the impact of KS on parents.
Objective/hypothesis: A mixed-method study was conducted to assess the impact on parental well-being by evaluating parents' well-being, identifying factors of parental experience predicting well-being, and exploring the parental experience.
Methods: Parents completed an online survey containing the PedsQL™ Family Impact Module (FIM) and a questionnaire created by the researchers. One-Way T-Test compared parents of children with KS to parents of children with Prader-Willi syndrome (PWS). Multiple linear regression used parents' total scale scores on PedsQL™ FIM to identify factors influencing parental well-being. Constant comparative analysis used open-ended responses to explore the parental experience of having a child with KS.
Results: Parents of children with KS had statistically lower scores in daily activity and social functioning, but statistically higher scores in communication and emotional functioning compared to parents of children with PWS. However, the power was below 0.80, meaning additional research needs to be completed to confirm these findings. The linear multiple regression was not significant. Most importantly, the themes of establishing the diagnosis, importance of knowledge, sense of community, KS and relationships with others, how life changed, and what the future will hold, characterized the parental experience.
Conclusions: Knowledge and support were important to parents who had a child recently diagnosed with KS. Therefore, parents should be provided resources about KS and support groups at diagnosis.
Keywords: Experience; Kleefstra syndrome; Parents; Rare; Well-being.
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