We are pleased to share an important milestone in the ESCO Natural History Study!! We have officially enrolled our very first NHS participant on the 4th of Novembre at the University Hospital in Antwerp. Four-year-old Rosie and her family kindly devoted an entire day to help move STXBP1 research forward.
The study visit began at the Centre for Developmental Disorders where Rosie first met with the neuropsychologist, who evaluated her social and functional development. Afterwards, she saw the speech and language therapist for an assessment of her communication skills, followed by the physiotherapist who guided her through the motor evaluations.
We introduced a small break after that as the family had to change location.
In the afternoon, Rosie was seen by the clinical (pediatric) neurology team at the University Hospital in Antwerp. Together with the family, they reviewed the medical, developmental, social and family history in detail. Several scales questionnaires were further completed covering sleep, behavior, motor function, communication and also more socio-economic aspects such as financial support and quality of life. Rosie also had a clinical examination, followed by a 30-minute EEG and ECG, all handled with patience and care. The family also kindly consented to a blood draw for biosampling. As part of the study, a follow-up consultation was planned after 3 months, which will take place by phone.
Despite the long and busy day, Rosie did wonderfully and her participation marks an encouraging start for our European Natural History Study. We are grateful to Rosie and her family, and we hope that many more patients and families will follow in her footsteps. Together, we can better understand STXBP1-related disorders and continue working towards improved care for our entire community.
This post is a contribution by Merel Swinnen from the ESCO Belgium team.