M Lorenzo-Ruiz, S Novo-Ponte, G Iglesias-Escalera, R Cazorla-Calleja, J Lara-Herguedas, L F López-Pájaro, B Ruiz-Antorán
INTRODUCTION: Angelman syndrome (AS) is widely described in childhood, but few studies have been conducted in adulthood and most of them report a small number of patients or specific conditions, such as epilepsy or sleep. AIM: The aim of this study is to describe AS in adulthood in our centre, the special needs it requires, and the medical and social support to improve care and to provide a better transition from the paediatric service to units for adults. PATIENTS AND METHODS: We collected patients with genetically confirmed AS, and described demographic, medical and social data by reviewing medical records, telephone interviews with the primary caregiver and three standardised sleep, dependency and quality of life scales...
April 1, 2023: Revista de Neurologia