Effectiveness of Methylphenidate in Children and Adolescents With KBG Syndrome: An N-of-1 Series
The goal of this clinical trial\] is to learn about the effect of methylphenidate in children and adolescents with KBG syndrome. The main question it aims to answer is: • What is the effectiveness of methylphenidate on attention deficit and ADHD-related symptoms in children and adolescents with KBG syndrome? Participants will receive multiple blocks of treatment with methylphenidate and placebo and fill out various questionnaires.
• Age 6-20 years
• Molecularly confirmed diagnosis of KBG syndrome (pathogenic ANKRD11 variant or a chromosome 16q24 deletion including ANKRD11)
• Attention deficit or ADHD-related symptoms or a formal ADHD diagnosis, with a significant impact on daily life\*
• Presence of a subject's caregiver or supervisor for proxy-reports