title: Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study.
abstract: OBJECTIVE
  To investigate psychopathology in children with neurofibromatosis type 1 (NF1), particularly the prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) symptomatology, using a population-based sampling approach.
  
  
  METHODS
  Standard questionnaire screen reports were analysed for ASD (Social Responsiveness Scale, SRS), ADHD (Conners' Parent Rating Scale- Revised, CPRS-R), and other psychiatric morbidity (Strengths and Difficulties Questionnaire, SDQ) from parents and teachers of children aged from 4 to 16 years (112 females, 95 males) on the UK North West Regional Genetic Service register for NF1.
  
  
  RESULTS
  Parental response rate was 52.7% (109/207 children; 59 females, 50 males, mean age 9 y 11 mo, SD 3 y 3 mo). The SRS showed that in 29.4% (32/109) of children, autism was in the severe, clinical range (T-score>75) and in 26.6% (29/109) in the mild to moderate range (T-score 60-75). CPRS-R scores showed that in 53.8% (57/106) of children autism was in the clinical ADHD range (ADHD index T-score>65). Based on their scores on the SDQ total difficulties scale, 41.5% (44/106) of children were in the abnormal range and 14.2% (15/106) were in the borderline range. Twenty-five per cent (26/104) of children met criteria for both clinical autism and ADHD.
  
  
  CONCLUSIONS
  This representative population-based sample of children with NF1 indicates a high prevalence of ASD symptoms associated with NF1 as well as substantial co-occurrence with ADHD symptoms. The findings clarify the psychopathology of NF1 and show the disorder as a potentially important single-gene cause for autism symptoms.
authors.affiliation:  Institute of Brain, Behaviour and Mental Health, University of Manchester.
authors.forename: Shruti
authors.initials: S
authors.lastname: Garg
authors.affiliation:  Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust.
authors.forename: Annukka
authors.initials: A
authors.lastname: Lehtonen
authors.affiliation:  Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust.
authors.forename: Susan M
authors.initials: SM
authors.lastname: Huson
authors.affiliation:  Centre for Biostatistics, Institute of Population Health, University of Manchester.
authors.forename: Richard
authors.initials: R
authors.lastname: Emsley
authors.affiliation:  Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust.
authors.forename: Dorothy
authors.initials: D
authors.lastname: Trump
authors.affiliation:  Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust.
authors.forename: D Gareth
authors.initials: DG
authors.lastname: Evans
authors.affiliation:  Institute of Brain, Behaviour and Mental Health, University of Manchester.| Child Psychiatry, Manchester Academic Health Sciences Centre, Manchester Children's Hospital, Manchester, UK.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Green
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000453:epidemiology*; D001321:Autistic Disorder / Q000175:diagnosis / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004739:England / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D008403:Mass Screening; D009456:Neurofibromatosis 1 / Q000453:epidemiology*; D015995:Prevalence; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires