title: Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.
abstract: OBJECTIVE
  Difficulties in neurocognition and social interaction are the most prominent causes of morbidity and long-term disability in children with neurofibromatosis type 1 (NF1). Symptoms of attention-deficit-hyperactivity disorder (ADHD) have also been extensively recognized in NF1. However, systematic evaluation of symptoms of autism spectrum disorder (ASD) in children with NF1 has been limited.
  
  
  METHODS
  We present a retrospective, cross-sectional study of the prevalence of symptoms of ASD and ADHD and their relationship in a consecutive series of 66 patients from our NF1 clinic. The Social Responsiveness Scale and the Vanderbilt ADHD Diagnostic Parent Rating Scale were used to assess symptoms of ASD and ADHD.
  
  
  RESULTS
  Sixty-six participants (42 males, 24 females) were included in this study. Mean age at assessment was 10 years 11 months (SD 5 y 4 mo). Forty percent of our NF1 sample had raised symptom levels reaching clinical significance on the Social Responsiveness Scale (T ≥ 60), and 14% reached levels consistent with those seen in children with ASDs (T ≥ 75). These raised levels were not explained by NF1 disease severity or externalizing/internalizing behavioral disorders. There was a statistically significant relationship between symptoms of ADHD and ASD (χ(2) =9.11, df=1, p=0.003, φ=0.56). Particularly salient were the relationships between attention and hyperactivity deficits, with impairments in social awareness and social motivation.
  
  
  CONCLUSIONS
  We found that symptoms of ASD in our NF1 population were raised, consistent with previous reports. Further characterization of the specific ASD symptoms and their impact on daily function is fundamental to the development and implementation of effective interventions in this population, which will probably include a combination of medical and behavioral approaches.
authors.affiliation:  The Jennifer and Daniel Gilbert Neurofibromatosis Institute, Washington, DC.| Center for Neuroscience and Behavioral Medicine at Children's National Medical Center, Washington, DC.
authors.forename: Karin S
authors.initials: KS
authors.lastname: Walsh
authors.affiliation:  Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Jorge I
authors.initials: JI
authors.lastname: Vélez
authors.affiliation:  The Jennifer and Daniel Gilbert Neurofibromatosis Institute, Washington, DC.| Center for Neuroscience and Behavioral Medicine at Children's National Medical Center, Washington, DC.
authors.forename: Peter G
authors.initials: PG
authors.lastname: Kardel
authors.affiliation:  The Jennifer and Daniel Gilbert Neurofibromatosis Institute, Washington, DC.| Center for Neuroscience and Behavioral Medicine at Children's National Medical Center, Washington, DC.
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Imas
authors.affiliation:  Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
authors.affiliation:  The Jennifer and Daniel Gilbert Neurofibromatosis Institute, Washington, DC.| Center for Neuroscience and Behavioral Medicine at Children's National Medical Center, Washington, DC.
authors.forename: Roger J
authors.initials: RJ
authors.lastname: Packer
authors.affiliation:  Phyllis Green and Randolph Cowen Institute for Pediatric Neuroscience, NYU Langone Medical Center, New York, NY.| Nathan Kline Institute, Orangeburg, NY, USA.
authors.forename: Francisco X
authors.initials: FX
authors.lastname: Castellanos
authors.affiliation:  The Jennifer and Daniel Gilbert Neurofibromatosis Institute, Washington, DC.| Center for Neuroscience and Behavioral Medicine at Children's National Medical Center, Washington, DC.| Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Maria T
authors.initials: MT
authors.lastname: Acosta
mesh_terms: D000293:Adolescent; D001288:Attention; D001289:Attention Deficit Disorder with Hyperactivity / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology; D002675:Child, Preschool; D003071:Cognition; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000453:epidemiology / Q000523:psychology; D009483:Neuropsychological Tests; D015995:Prevalence; D012189:Retrospective Studies; D012919:Social Behavior