Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network

J Autism Dev Disord. 2016 Oct;46(10):3369-76. doi: 10.1007/s10803-016-2877-3.


Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with neurodevelopmental disorders including autism spectrum disorder (ASD). The frequency of ASD/NF1 co-occurrence has been subject to debate since the 1980s. This relationship was investigated in a large population-based sample of 8-year-old children identified with ASD (N = 12,271) by the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring (ADDM) Network. Twenty-two (1-in-558) children with ASD had diagnosed NF1, exceeding NF1 general population estimates by four to five fold. Children with ASD/NF1 versus ASD without NF1 were significantly less likely to receive a community-based ASD diagnosis (p = 0.04) and understand non-verbal communication (p = 0.001). These findings underscore the importance of including social-communication ability among relevant developmental concerns in children with NF1.

Keywords: Autism; Children; Developmental disabilities; Neurofibromatosis; Non-verbal communications.

MeSH terms

  • Autism Spectrum Disorder / diagnosis*
  • Autism Spectrum Disorder / epidemiology*
  • Centers for Disease Control and Prevention, U.S. / standards
  • Child
  • Community Networks* / standards
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / epidemiology
  • Diagnostic and Statistical Manual of Mental Disorders*
  • Female
  • Humans
  • Male
  • Neurodevelopmental Disorders / diagnosis
  • Neurodevelopmental Disorders / epidemiology
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / epidemiology*
  • Nonverbal Communication
  • Prevalence
  • United States / epidemiology