title: Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network.
abstract: 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.
authors.affiliation: Utah Autism Research Program, Department of Psychiatry, University of Utah, 650 Komas Drive, Suite 206, Salt Lake City, UT, 84108, USA. deborah.bilder@hsc.utah.edu.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Bilder
authors.affiliation: Utah Autism Research Program, Department of Psychiatry, University of Utah, 650 Komas Drive, Suite 206, Salt Lake City, UT, 84108, USA.
authors.forename: Amanda V
authors.initials: AV
authors.lastname: Bakian
authors.affiliation: Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.|Division of Medical Genetics, Stanford University, California, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.affiliation: Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
authors.forename: Paul S
authors.initials: PS
authors.lastname: Carbone
authors.affiliation: Department of Pediatrics, University of Arizona, Tucson, AZ, USA.|Division of Medical Genetics, Weill Cornell Medical College, New York, USA.
authors.forename: Christopher
authors.initials: C
authors.lastname: Cunniff
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Center for Disease Control and Prevention, Atlanta, GA, USA.
authors.forename: Alyson B
authors.initials: AB
authors.lastname: Goodman
authors.affiliation: Department of Psychiatry, University of Utah, Salt Lake City, UT, USA.
authors.forename: William M
authors.initials: WM
authors.lastname: McMahon
authors.affiliation: Department of Psychiatry, University of Utah, Salt Lake City, UT, USA.
authors.forename: Nicole P
authors.initials: NP
authors.lastname: Fisher
authors.affiliation: Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
authors.forename: David
authors.initials: D
authors.lastname: Viskochil
mesh_terms: D000067877:Autism Spectrum Disorder / Q000175:diagnosis* / Q000453:epidemiology*; D002487:Centers for Disease Control and Prevention, U.S. / Q000592:standards; D002648:Child; D019058:Community Networks / Q000592:standards; D002658:Developmental Disabilities / Q000175:diagnosis / Q000453:epidemiology; D039721:Diagnostic and Statistical Manual of Mental Disorders; D005260:Female; D006801:Humans; D008297:Male; D065886:Neurodevelopmental Disorders / Q000175:diagnosis / Q000453:epidemiology; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000453:epidemiology*; D009633:Nonverbal Communication; D015995:Prevalence; D014481:United States / Q000453:epidemiology
keywords: Autism; Children; Developmental disabilities; Neurofibromatosis; Non-verbal communications