Scientific Article 🇬🇧 Directly KS related

Changing the Child: The Impact of Novel Treatments on the Identity of Children With Monogenic Neurodevelopmental Disorders

person Sietske A. L. van Till, Maartje H. N. Schermer, Hilgo Bruining, Matthijs Verhage, and Eline M. Bunnik

calendar_today May 28, 2026

This paper explores parents’ views on future treatments for STXBP1-related disorders and Kleefstra syndrome, including both hopes that children can thrive and concerns that treatment could change meaningful parts of who they are—their personality, relationships, or sense of belonging. For Kleefstra syndrome families, it shows why clinical trials should include open conversations not only about medical benefits, but also about a child’s identity, dignity, and place in their family and community.