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  1. Diagnostic delay in neurofibromatosis type 1.

    Article - En anglais

    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 (NF 1) 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 NFI 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 NFI 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.

    Mots-clés Pascal : Neurofibromatose, Diagnostic, Prénatal, Temps attente, Conseil génétique, Evaluation, Questionnaire, Résultat, Homme, Système nerveux pathologie, Phacomatose, Tumeur bénigne

    Mots-clés Pascal anglais : Neurofibromatosis, Diagnosis, Prenatal, Waiting time, Genetic counseling, Evaluation, Questionnaire, Result, Human, Nervous system diseases, Phacomatosis, Benign neoplasm

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 97-0341962

    Code Inist : 002B17E. Création : 12/09/1997.