Journal of Pediatric Neurology 2010; 08(04): 343-348
DOI: 10.3233/JPN-2010-0411
Georg Thieme Verlag KG Stuttgart – New York

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

Nicole J. Ullrich
a   Department of Neurology, Children's Hospital Boston, Longwood Avenue, Boston, MA, USA
,
Celiane Rey-Casserly
b   Department of Psychiatry, Children's Hospital/Harvard Medical School, Boston, MA, USA
,
Mallory L. Irons
c   Division of Genetics/Department of Medicine, Children's Hospital Boston, Boston, MA, USA
,
Caroline Allison
c   Division of Genetics/Department of Medicine, Children's Hospital Boston, Boston, MA, USA
,
Mira B. Irons
c   Division of Genetics/Department of Medicine, Children's Hospital Boston, Boston, MA, USA
› Author Affiliations

Subject Editor:
Further Information

Publication History

13 August 2009

17 November 2009

Publication Date:
30 July 2015 (online)

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.