{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T07:40:19Z","timestamp":1793173219823,"version":"4.5.0"},"reference-count":40,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12,1]]},"abstract":"<jats:sec>\n                    <jats:title>OBJECTIVE:<\/jats:title>\n                    <jats:p>To determine the prevalence of autism spectrum disorder (ASD) in Neurofibromatosis Type 1 (NF1).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS:<\/jats:title>\n                    <jats:p>Second-phase population-based epidemiologic study using an allcase NF1 registry in a defined UK 4.1 million population area. A total of 109 (52.7%) of 207 responders from the initial screening phase were grouped by using the parent-rated Social Responsiveness Scale (SRS) as significant ASD (SRS\u226576; n = 32), moderate ASD (SRS \u2265 60&amp;lt;76; n = 29), or non-ASD (SRS &amp;lt;60, n = 48). Twenty-three cases from the significant ASD group, 16 from moderate ASD, and 8 from non-ASD (total n = 47), invited proportionately by random selection, were seen for detailed confirmatory ascertainment. Assessments on Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Scale-Generic, and verbal IQ were combined by using standard Collaborative Program for Excellence in Autism criteria into an ASD categorization for each case (ASD, broad ASD with partial features, non-ASD). A preplanned weighted analysis was used to derive prevalence estimates for the whole population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>Fourteen (29.5%) of 47 showed ASD, 13 (27.7%) broad ASD, and 20 (42.5%) non-ASD. The ASD\/broad ASD group showed male predominance (1.7:1.0), but did not differ significantly from the non-ASD group on IQ, age, socioeconomic status, inheritance, physical severity, or education. The population prevalence estimate is 24.9% ASD (95% confidence interval 13.1%\u201342.1%) and 20.8% broad ASD (95% confidence interval 10.0%\u201338.1%); a total of 45.7% showing some ASD spectrum phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>Findings indicate high prevalence of ASD in NF1, with implications for clinical practice and further research into NF1 as a single-gene model for autism.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1542\/peds.2013-1868","type":"journal-article","created":{"date-parts":[[2013,11,4]],"date-time":"2013-11-04T20:16:41Z","timestamp":1383596201000},"page":"e1642-e1648","source":"Crossref","is-referenced-by-count":181,"title":["Neurofibromatosis Type 1 and Autism Spectrum Disorder"],"prefix":"10.1542","volume":"132","author":[{"given":"Shruti","family":"Garg","sequence":"first","affiliation":[{"name":"Institute of Brain, Behaviour and Mental Health, University of Manchester, United Kingdom,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Green","sequence":"additional","affiliation":[{"name":"Institute of Brain, Behaviour and Mental Health, University of Manchester, United Kingdom,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Leadbitter","sequence":"additional","affiliation":[{"name":"Institute of Brain, Behaviour and Mental Health, University of Manchester, United Kingdom,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Emsley","sequence":"additional","affiliation":[{"name":"Centre for Biostatistics, Institute of Population Health, University of Manchester, United Kingdom,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annukka","family":"Lehtonen","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Central Manchester Foundation National Health Service Trust, Manchester, United Kingdom and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Gareth","family":"Evans","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Central Manchester Foundation National Health Service Trust, Manchester, United Kingdom and"},{"name":"Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"Huson","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Central Manchester Foundation National Health Service Trust, Manchester, United Kingdom and"},{"name":"Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2013,12,1]]},"reference":[{"issue":"9531","key":"2021120823405032500_B1","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0140-6736(06)69041-7","article-title":"Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP).","volume":"368","author":"Baird","year":"2006","journal-title":"Lancet"},{"key":"2021120823405032500_B2","unstructured":"Centers for Disease Control and Prevention. 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