"I´m a pediatric neurologist and researcher interested in rare genetic disorders such as, but not limited to, KBG syndrome. My research is mostly on describing the symptoms in children and adults with such rare disorders, understand if and why different mutations in certain genes cause different symptoms (also known as genotype-phenotype correlations) and, when possible, try to adjust the medical treatment and clinical follow-up based on the mutation (also known as personalized medicine).
At this point, we believe that all patients with KBG syndrome as well as their families and healthcare providers can benefit from knowing what symptoms adults with KBG are facing and struggling with. Since mostly children with KBG have been studied, only little is known about the natural history of the syndrome into adulthood. This is what we hope to change by collecting clinical data on adults with KBG syndrome using the present questionnaire."