Abstract
Segmental neurofibromatosis type 1 (NF1) describes patients with manifestations of NF1 that are restricted to one region of the body; little has been documented in the way of significant medical or developmental problems in patients with segmental NF1 that are frequently noted in generalized NF1. We performed a retrospective review of patients with segmental NF1 to determine the prevalence of academic and cognitive difficulties in children with segmental NF1 compared to children with generalized NF1. A total of 62 patients were identified with segmental NF1. Almost all patients had pigmentary changes with caféau lait macules and skin-fold freckling that were limited to one region of the body. Nearly half of children with segmental NF1 had individualized educational plans and received supportive academic services (47%, which was close to the frequency of 57% in generalized NF1). This study provides preliminary evidence that children with segmental NF1 may be at increased risk for academic and cognitive difficulties. We recommend close follow-up and developmental screening of all children with segmental NF1, as is done for children with generalized NF1.
Original language | English (US) |
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Pages (from-to) | 343-348 |
Number of pages | 6 |
Journal | Journal of Pediatric Neurology |
Volume | 8 |
Issue number | 4 |
DOIs | |
State | Published - 2010 |
Externally published | Yes |
Keywords
- cognitive
- learning disabilities
- mosaic
- neurofibromatosis
- Segmental
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology