Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.
Agata SulejaKatarzyna Milska-MusaŁukasz PrzysłoMarzena BednarczykMarcin KosteckiDominik CysewskiPaweł MatrybaAnna RozensztrauchMichał DwornikMarcin OpackiRobert ŚmigielKacper ŁukasiewiczPublished in: Orphanet journal of rare diseases (2024)
The care of patients with AS in Poland is carried out according to the European and world standards, however there is an impeded access to clinical geneticist, and the knowledge about rare diseases among primary healthcare physicians could be improved. Moreover, access to AS care specialists and coordination of care is limited. There is a need for creation a specialized centers and databases for AS patients.