Children with segmental neurofibromatosis type 1 are at increased risk for academic and cognitive difficulties

Nicole J. Ullrich, Celiane Rey-Casserly, Mallory L. Irons, Caroline Allison, Mira B. Irons

Research output: Contribution to journalArticlepeer-review


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 languageEnglish (US)
Pages (from-to)343-348
Number of pages6
JournalJournal of Pediatric Neurology
Issue number4
StatePublished - 2010
Externally publishedYes


  • cognitive
  • learning disabilities
  • mosaic
  • neurofibromatosis
  • Segmental

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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