Neurofibromatosis type 1 (NF1) is a genetic disorder leading to symptoms in the skin, bones, and nervous system, but also to an increased risk of benign and malignant tumors. NF1 leads to unpredictable and variable complications and a lower quality of life. Cognitive deficits and behavioral problems are among the most common complications of NF1 in children. Both physical and psychological characteristics are part of the so-called phenotype, belonging to the genetic makeup: the genotype of this disorder. This thesis focuses on the behavioral phenotype including the most frequent cognitive, motor, behavioral, emotional and social problems in NF1.

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Keywords Neurofibromatosis type 1, Neurocognitive disorders, Genetic disorders, Participation, Cognition, Quality of life, Motor problems, social and emotional problems, behavioral problems, behavioral outcome measures
Promotor Y. Elgersma (Ype) , H.A. Moll (Henriëtte) , P.F.A. de Nijs (Pieter) , M.C.Y. de Wit (Marie Claire)
Publisher Erasmus University Rotterdam
ISBN 978-94-6380-481-3
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Note For copyright reasons there is a partial embargo for this dissertation
Rietman, A.B. (2019, October 2). Behavioral Phenotyping Neurofibromatosis Type 1. Erasmus University Rotterdam. Retrieved from