DIAGNOSTIC DELAY IN NEUROFIBROMATOSIS TYPE-1

Since 1985 a multidisciplinary team in the Sophia Children's Universit y Hospital in Rotterdam provides diagnostic follow up and genetic coun selling services for neurofibromatosis type 1 (NF1) patients and their families. Parents of 68 affected children as well as 24 affected pare nts were interviewed. Of the affected children, 50% and 33% of the aff ected adults were treated for symptoms related to NF1 before a specifi c diagnosis was made. Although the disease is fully penetrant by the a ge of 5 years, 35% of the affected children had not been diagnosed by this age. Parents stated a preference for early diagnosis of NF1. Diag nosis of NF1 did not seem to be a reason to refrain from having childr en. The general attitude towards prenatal diagnosis was positive; howe ver few parents would actually terminate an affected pregnancy. Conclu sion Overall delay in diagnosis of NF1 is significant. Knowledge of sy mptoms should make an early diagnosis possible with beneficial effects for the patient and family members.