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Auditory processing phenotype of neurofibromatosis type I

Friday, November 08, 2013 — Poster Session III

10:00 a.m. – 12:00 p.m.

FAES Academic Center (Upper-Level Terrace)




  • L. Lancaster
  • K. King
  • C. Zalewski
  • H.J. Kim
  • P. Wolters
  • S. Martin
  • A. Gillespie
  • E. Dombi
  • B. Widemann
  • C. Brewer


Neurofibromatosis Type I (NF1) is a relatively common (1:2500-1:3000) autosomal dominant, progressive neuro-cutaneous disorder resulting from mutations of NF1, the gene responsible for production of the tumor suppressing protein, neurofibromin. Persons with NF1 have increased risk of developing central and peripheral nervous system tumors, in addition to cutaneous, skeletal, vascular and cognitive manifestations. We have previously reported abnormal ABRs in 7/28 individuals with NF1, 5 of whom had evidence of spongiform gliosis on MRI (Barcelos-Corse et al., 2010). Our current goal is to characterize auditory processing (AP) abilities of persons with NF1, and evaluate associations with other aspects of the phenotype. We hypothesized that NF1 is associated with risk for auditory processing deficits (APD), and that CNS structural abnormalities and/or neurodevelopmental disorders overlap APDs in this group. We evaluated AP abilities in 43 individuals with NF1, aged 7-29 years (mean 16.1; SD 5.3) with normal peripheral hearing. Reduced performance was observed on at least two AP tests in 53% and at least one linguistic and one non-linguistic test in 28% of our cohort. We compare behavioral AP results with findings on ABR, CNS imaging and neuropsychological tests, and discuss the implications on developmental and educational success of individuals with NF1.

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