Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study

Kleefstra Syndrome (KLEFS1) is a monogenic neurodevelopmental disorder characterized by developmental delays, somatic issues, and (neuro)psychiatric symptoms. Individuals with KLEFS1 often require complex, ongoing support, which significantly impacts family life. To effectively improve care and support for families, a better understanding is needed of the impacts of raising a child with KLEFS1 on the family and families' support needs. We conducted a semi-structured interview study among parents of children with KLEFS1 to investigate these impacts. The interviews were audio-recorded, transcribed, coded, and thematically analyzed. We conducted 12 interviews with 15 parents of children with KLEFS1 (8–25 years old), in the Netherlands and Belgium. Over the years, parents have encountered significant challenges. Although parents value timely diagnosis, the emotional impact was profound, especially for parents of younger children. Parents focused on their children's developmental symptoms, and behavioral and psychiatric symptoms, which had significant impacts, including impacts on parents' employment status, their ability to undertake activities, and emotional well-being. Parents were concerned about their children's future, because of children's lifelong dependency and risk of regression. Parents prioritized receiving adequate care and support to decrease the burden on their family and to improve their child's well-being. To better support families, the accessibility of social support needs to be improved, e.g., by expanding respite care services and specialized schooling, simplifying regulations for accessing social support, and providing tailored emotional support and information during the diagnostic process. When developing treatments, researchers should incorporate parental experiences in defining patient-relevant outcome measures.