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

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.
Author/Researchers: 
Deborah A. Bilder, Amanda V. Bakian, David A. Stevenson, Paul S. Carbone, Christopher Cunniff, Alyson B. Goodman, William M. McMahon, Nicole P. Fisher, David Viskochil
Year: 
2016
Publication: 
Journal of Autism and Developmental Disorders

Utah Department of Health

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