Kleefstra syndrome: Impact on parents

Area of Science:

• Genetics and Rare Diseases
• Child Development and Psychology
• Parental Well-being Studies

Background:

• Kleefstra syndrome (KS) is a genetic disorder associated with significant developmental challenges, including intellectual disability and autism.
• Despite the known impact on children, the effects of KS on parental well-being and experience remain under-researched.
• This study addresses the gap in understanding the parental experience of raising a child with KS.

Purpose of the Study:

• To assess the impact of Kleefstra syndrome on parental well-being.
• To identify factors within the parental experience that predict well-being.
• To explore the lived experiences of parents raising a child with KS.

Main Methods:

• A mixed-methods approach was employed, combining quantitative surveys and qualitative analysis.
• Parents completed the PedsQL™ Family Impact Module (FIM) and a researcher-developed questionnaire.
• Statistical analyses included T-tests comparing KS parents to Prader-Willi syndrome (PWS) parents, and multiple linear regression. Qualitative data from open-ended responses were analyzed using constant comparative analysis.

Main Results:

• Parents of children with KS reported lower scores in daily activity and social functioning compared to parents of children with Prader-Willi syndrome (PWS).
• Conversely, parents of children with KS showed higher scores in communication and emotional functioning.
• Key themes emerged regarding the parental experience: diagnosis establishment, the value of knowledge, community, relationships, life changes, and future outlook.

Conclusions:

• Knowledge and support are vital for parents newly diagnosed with Kleefstra syndrome.
• Resources and support groups should be readily available to parents at the time of diagnosis.
• Addressing parental needs is essential for supporting families affected by KS.