Consequences of Down syndrome for patient and family

Background

Project leader: prof. R. Gemke
Researcher: Michel Weijerman, pediatrician

Down syndrome is characterized by a classical appearance and developmental retardation. Several congenital anomalies occur more frequent among Down syndrome patients (such as cardiac anomalies, duodenal stenosis). Also some diseases that occur later in life are more frequent in Down syndrome patients (such as coeliac disease, hypothyroidism). At the VU University Medical Center a special clinic for Down syndrome has been started by 1-1-2003. Furthermore, a national registry of Down syndrome children has been started. Based on this registry and the cohort of children followed at the clinic epidemiological research on the occurrence of the disease, psychosocial development and health related quality of life will be initiated.