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Diagnostic delay in neurofibromatosis type 1
- Source :
- European Journal of Pediatrics, 156, 482-487. Springer-Verlag
- Publication Year :
- 1997
- Publisher :
- Springer Science and Business Media LLC, 1997.
-
Abstract
- Since 1985 a multidisciplinary team in the Sophia Children's University Hospital in Rotterdam provides diagnostic follow up and genetic counseling 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.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.
- Subjects :
- Adult
Male
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Pediatrics
Neurofibromatosis 1
Time Factors
Adolescent
Genetic counseling
Genetic Counseling
Prenatal diagnosis
Disease
Multidisciplinary team
Prenatal Diagnosis
Humans
Medicine
Neurofibromatosis
Child
Family Health
Pregnancy
business.industry
Public health
Infant
Consumer Behavior
University hospital
medicine.disease
Child, Preschool
Family Planning Services
Pediatrics, Perinatology and Child Health
Female
business
Attitude to Health
Subjects
Details
- ISSN :
- 14321076 and 03406199
- Volume :
- 156
- Database :
- OpenAIRE
- Journal :
- European Journal of Pediatrics
- Accession number :
- edsair.doi.dedup.....803e1071ee98ca5941a59e5a2a411fde