'You constantly have to be switched on': A qualitative interview study of parents of children with STXBP1-related disorders in the Netherlands.

Abstract

Background: Disorder-related variants in the STXBP1 gene are increasingly detected in children with severe developmental disorders. It is commonly acknowledged that developmental disorders significantly impact family life, but little is known about the day-to-day experiences of caregivers living with children with STXBP1-related disorders (STXBP1-RD). This knowledge gap may hinder researchers and care professionals from aligning research activities, care, and support with the perspectives of parents.

Methods: We conducted a semi-structured interview study to gain a better understanding of the impact of having a child with STXBP1-RD on daily family life. Interviews were audio-recorded, transcribed, and analyzed thematically. We developed an 'analytical framework based on verbs', as verbs signify action, to present our results on the experiences of parents in everyday life.

Results: We conducted 16 interviews with 21 parents of children with STXBP1-RD (2 to 18 years old), living in the Netherlands. The respondents described their caregiving responsibilities as extremely intense and demanding. They reported being constantly occupied with caring for their child, and expressed a feeling of always being 'switched on'. Parents' experiences are described using the following five verbs: (1) caring for their child, (2) recognizing their child's needs and having their child's needs recognized, (3) searching for answers and suitable care, (4) balancing delivering care while preserving other domains of life, and (5) coping with emotional impacts.

Conclusions: This study shows how parenting a child with STXBP1-RD involves continuous engagement with both child-related care responsibilities and other activities, such as arranging suitable care and coping with emotional impacts. The accumulation of these responsibilities and challenges significantly impacts the everyday lives of the entire family. To support STXBP1 patient families, a broad approach is needed, focusing not only on developing new medical treatments, but also on improving other therapies (e.g., speech therapy or physiotherapy) and providing social support for the entire family, including emotional support, assistance with administrative tasks, and improved information provision after diagnosis.