Diagnostic delay in neurofibromatosis type 1.

Since 1985 a multidisciplinary team in the Sophia Children's University Hospital in Rotterdam provides diagnostic follow up and genetic counselling services for neurofibromatosis type 1 (NF1) patients and their families. Parents of 68 affected children as well as 24 affected parents were interviewed. Of the affected children, 50% and 33% of the affected adults were treated for symptoms related to NF1 before a specific diagnosis was made. Although the disease is fully penetrant by the age of 5 years, 35% of the affected children had not been diagnosed by this age. Parents stated a preference for early diagnosis of NF1. Diagnosis of NF1 did not seem to be a reason to refrain from having children. The general attitude towards prenatal diagnosis was positive; however few parents would actually terminate an affected pregnancy.Conclusion Overall delay in diagnosis of NF1 is significant. Knowledge of symptoms should make an early diagnosis possible with beneficial effects for the patient and family members. [ABSTRACT FROM AUTHOR]