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-ba...

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Published inJournal of autism and developmental disorders Vol. 46; no. 10; pp. 3369 - 3376
Main Authors Bilder, Deborah A., Bakian, Amanda V., Stevenson, David A., Carbone, Paul S., Cunniff, Christopher, Goodman, Alyson B., McMahon, William M., Fisher, Nicole P., Viskochil, David
Format Journal Article
LanguageEnglish
Published New York Springer US 01.10.2016
Springer
Springer Nature B.V
Subjects
Online AccessGet full text
ISSN0162-3257
1573-3432
1573-3432
DOI10.1007/s10803-016-2877-3

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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.
AbstractList 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.
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.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.
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.
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.
Audience Elementary Education
Academic
Author Bakian, Amanda V.
Carbone, Paul S.
Goodman, Alyson B.
McMahon, William M.
Bilder, Deborah A.
Fisher, Nicole P.
Viskochil, David
Stevenson, David A.
Cunniff, Christopher
AuthorAffiliation 7 Present Address: Division of Medical Genetics, Stanford University, California, USA
4 Department of Pediatrics, University of Arizona, Tucson, AZ, USA
8 Present Address: Division of Medical Genetics, Weill Cornell Medical College, New York, USA
6 Department of Psychiatry, University of Utah, Salt Lake City, UT, USA
2 Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA
1 Utah Autism Research Program, Department of Psychiatry, University of Utah, 650 Komas Drive, Suite 206, Salt Lake City, UT 84108, USA
3 Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
5 National Center on Birth Defects and Developmental Disabilities, Center for Disease Control and Prevention, Atlanta, GA, USA
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References DiltsCVCareyJCKircherJCHoffmanROCreelDWardKLeonardCOChildren and adolescents with neurofibromatosis 1: A behavioral phenotypeJournal of Developmental and Behavioral Pediatrics19961722923910.1097/00004703-199608000-000048856518
HymanSLArthurSENorthKNLearning disabilities in children with neurofibromatosis type 1: Subtypes, cognitive profile, and attention-deficit-hyperactivity disorderDevelopmental Medicine and Child Neurology20064897397710.1017/S001216220600213117109785
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal InvestigatorsPrevalence of autism spectrum disorders—Autism and Developmental Disabilities Monitoring Network, United States, 2006Morbidity and Mortality Weekly Report200958SS10120
Statistical Analysis System (Version 9.3). (2011) [Computer software]. Cary, NC: SAS Institute Inc.
HymanSLShoresANorthKNThe nature and frequency of cognitive deficits in children with neurofibromatosis type 1Neurology2005651037104410.1212/01.wnl.0000179303.72345.ce16217056
PlasschaertEDescheemaekerMVan EylenLNoensISteyaertJLegiusEPrevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1American Journal of Medical Genetics Part B: Neuropsychiatric Genetics20141681728010.1002/ajmg.b.32280
FombonneEDu MazaubrunCCansCGrandjeanHAutism and associated medical disorders in a French epidemiological surveyJournal of the American Academy of Child and Adolescent Psychiatry1997361115691591
American Psychiatric AssociationDiagnostic and Statistical Manual of Mental Disorders20135WashingtonAmerican Psychiatric Association
OzonoffSCognitive impairment in neurofibromatosis type 1American Journal of Medical Genetics199989455210.1002/(SICI)1096-8628(19990326)89:1<45::AID-AJMG9>3.0.CO;2-J10469436
WilliamsPGHershJHBrief report: the association of neurofibromatosis type 1 and autismJournal of Autism and Developmental Disorders199828656757110.1023/A:10260124141939932243
van EeghenAMPulsiferMBMerkerVLNeumeyerAMvan EeghenEEThibertRLThieleEAUnderstanding relationships between autism, intelligence, and epilepsy: A cross-disorder approachDevelopmental Medicine and Child Neurology201255214615310.1111/dmcn.1204423205844
TinkerJCarbonePSViskochilDMathiesenAMaKNStevensonDAScreening children with neurofibromatosis type 1 for autism spectrum disorderAmerican Journal of Medical Genetics. Part A201416471706171210.1002/ajmg.a.36549
GillbergCForsellCChildhood psychosis and neurofibromatosis—more than a coincidence?Journal of Autism and Developmental Disorders19841411810.1007/BF024085516423617
GargSLehtonenAHusonSMEmsleyRTrumpDEvansDGGreenJAutism and other psychiatric comorbidity in neurofibromatosis type 1: Evidence from a population-based studyDevelopmental Medicine and Child Neurology20135513914510.1111/dmcn.1204323163236
American Psychiatric AssociationDiagnostic and Statistical Manual of Mental Disorders20004WashingtonAmerican Psychiatric Association
HuijbregtsSCJde SonnevilleLMJDoes cognitive impairment explain behavioral and social problems of children with neurofibromatosis type 1?Behavior Genetics20114143043610.1007/s10519-010-9430-521184163
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators Prevalence of autism spectrum disorders–autism and developmental disabilities monitoring network, 14 sites, United States, 2002Morbidity and Mortality Weekly Report2007561228
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal InvestigatorsPrevalence of autism spectrum disorders—Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008Morbidity and Mortality Weekly Report2012613119
MouridsenSEAndersenLBSorensenSARichBIsagerTNeurofibromatosis in infantile autism and other types of childhood psychosesActa Paedopsychiatrica199255115181310363
MaennerMJRiceCEArnesonCLCunniffCSchieveLACarpenterLADurkinMSPotential impact of DSM-5 criteria on autism spectrum disorder prevalence estimatesJournal of the American Medical Association Psychiatry2014713292300244525044041577
VolkmarFRBregmanJCohenDJCicchettiDVDSM-III and DSM-III-R diagnoses of autismAmerican Journal of Psychiatry19881451404140810.1176/ajp.145.11.14043189597
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal InvestigatorsPrevalence of autism spectrum disorder among children aged 8 years—Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010Morbidity and Mortality Weekly Report2014632121
DeBellaKSzudekJFriedmanJMUse of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in childrenPediatrics200010560861410.1542/peds.105.3.60810699117
US Department of Health and Human Services. (2009) Code of federal regulations. Title 45. Public Welfare CFR 46. Retrieved from http://www.hhs.gov/ohrp/humansubjects/guidance/45cfr46.html.
Yeargin-AllsoppMRiceCKarapurkarTDoernbergNBoyleCMurphyCPrevalence of autism in a US metropolitan areaJournal of the American Medical Association2003289495512503976
MillerJSBilderDFarleyMCoonHPinborough-ZimmermanJJensonWMcMahonWMAutism spectrum disorders reclassified: A second look at the 1980’s Utah/UCLA autism epidemiologic studyJournal of Autism and Developmental Disorders201343120021010.1007/s10803-012-1566-0226961954467195
BreiNGKlein-TasmanBPSchwarzNGCasnarCLLanguage in young children with neurofibromatosis-1: Relations to functional communication, attention, and social functioningResearch in Developmental Disabilities2014352495250410.1016/j.ridd.2014.06.01624995687
WalshKSVelezJIKardelPGImasDMMuenkeMPackerRJAcostaMTSymptomatology of autism spectrum disorder in a population with neurofibromatosis type 1Developmental Medicine and Child Neurology20135513113810.1111/dmcn.1203823163951
GargSGreenJLeadbitterKEmsleyRLehtonenAEvansEGHusonSMNeurofibromatosis type 1 and autism spectrum disorderPediatrics2013132e1642e164810.1542/peds.2013-186824190681
LammertMFriedmanJMKluweLMautnerVFPrevalence of neurofibromatosis 1 in German children at elementary school enrollmentArchives of Dermatology2005141717410.1001/archderm.141.1.7115655144
National Center for Health Statistics (2002). Classification of diseases and injuries. Retrieved from ftp://ftp.cdc.gov/pub/Health_Statistics/NCHS/Publications/ICD-9/ucod.txt.
National Institutes of Health Consensus Development ConferenceNeurofibromatosis conference statementArchives of Neurology19884557557810.1001/archneur.1988.00520290115023
McKeeverKShepherdCWCrawfordHMorrisonPJAn epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of ageUlster Medical Journal200877160163189567962604471
Hersh, J. H., & Committee on GeneticsHealth supervision for children with neurofibromatosisPediatrics200812163364210.1542/peds.2007-3364
American Psychiatric AssociationDiagnostic and statistical manual of mental disorders19803WashingtonAmerican Psychiatric Association
S Garg (2877_CR13) 2013; 55
SL Hyman (2877_CR17) 2006; 48
K DeBella (2877_CR9) 2000; 105
M Lammert (2877_CR19) 2005; 141
AM van Eeghen (2877_CR31) 2012; 55
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SCJ Huijbregts (2877_CR16) 2011; 41
K McKeever (2877_CR21) 2008; 77
KS Walsh (2877_CR33) 2013; 55
FR Volkmar (2877_CR32) 1988; 145
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators (2877_CR6) 2012; 61
NG Brei (2877_CR8) 2014; 35
C Gillberg (2877_CR14) 1984; 14
S Ozonoff (2877_CR26) 1999; 89
Hersh, J. H., & Committee on Genetics (2877_CR15) 2008; 121
SL Hyman (2877_CR18) 2005; 65
SE Mouridsen (2877_CR23) 1992; 55
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American Psychiatric Association (2877_CR3) 2013
CV Dilts (2877_CR10) 1996; 17
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JS Miller (2877_CR22) 2013; 43
S Garg (2877_CR12) 2013; 132
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators (2877_CR4) 2007; 56
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators (2877_CR5) 2009; 58
MJ Maenner (2877_CR20) 2014; 71
American Psychiatric Association (2877_CR1) 1980
National Institutes of Health Consensus Development Conference (2877_CR25) 1988; 45
J Tinker (2877_CR29) 2014; 164
Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators (2877_CR7) 2014; 63
M Yeargin-Allsopp (2877_CR35) 2003; 289
E Fombonne (2877_CR11) 1997; 36
American Psychiatric Association (2877_CR2) 2000
E Plasschaert (2877_CR27) 2014; 168
PG Williams (2877_CR34) 1998; 28
References_xml – reference: DeBellaKSzudekJFriedmanJMUse of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in childrenPediatrics200010560861410.1542/peds.105.3.60810699117
– reference: McKeeverKShepherdCWCrawfordHMorrisonPJAn epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of ageUlster Medical Journal200877160163189567962604471
– reference: WalshKSVelezJIKardelPGImasDMMuenkeMPackerRJAcostaMTSymptomatology of autism spectrum disorder in a population with neurofibromatosis type 1Developmental Medicine and Child Neurology20135513113810.1111/dmcn.1203823163951
– reference: LammertMFriedmanJMKluweLMautnerVFPrevalence of neurofibromatosis 1 in German children at elementary school enrollmentArchives of Dermatology2005141717410.1001/archderm.141.1.7115655144
– reference: Statistical Analysis System (Version 9.3). (2011) [Computer software]. Cary, NC: SAS Institute Inc.
– reference: TinkerJCarbonePSViskochilDMathiesenAMaKNStevensonDAScreening children with neurofibromatosis type 1 for autism spectrum disorderAmerican Journal of Medical Genetics. Part A201416471706171210.1002/ajmg.a.36549
– reference: American Psychiatric AssociationDiagnostic and Statistical Manual of Mental Disorders20135WashingtonAmerican Psychiatric Association
– reference: OzonoffSCognitive impairment in neurofibromatosis type 1American Journal of Medical Genetics199989455210.1002/(SICI)1096-8628(19990326)89:1<45::AID-AJMG9>3.0.CO;2-J10469436
– reference: Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal InvestigatorsPrevalence of autism spectrum disorders—Autism and Developmental Disabilities Monitoring Network, United States, 2006Morbidity and Mortality Weekly Report200958SS10120
– reference: MouridsenSEAndersenLBSorensenSARichBIsagerTNeurofibromatosis in infantile autism and other types of childhood psychosesActa Paedopsychiatrica199255115181310363
– reference: van EeghenAMPulsiferMBMerkerVLNeumeyerAMvan EeghenEEThibertRLThieleEAUnderstanding relationships between autism, intelligence, and epilepsy: A cross-disorder approachDevelopmental Medicine and Child Neurology201255214615310.1111/dmcn.1204423205844
– reference: National Center for Health Statistics (2002). Classification of diseases and injuries. Retrieved from ftp://ftp.cdc.gov/pub/Health_Statistics/NCHS/Publications/ICD-9/ucod.txt.
– reference: Yeargin-AllsoppMRiceCKarapurkarTDoernbergNBoyleCMurphyCPrevalence of autism in a US metropolitan areaJournal of the American Medical Association2003289495512503976
– reference: US Department of Health and Human Services. (2009) Code of federal regulations. Title 45. Public Welfare CFR 46. Retrieved from http://www.hhs.gov/ohrp/humansubjects/guidance/45cfr46.html.
– reference: VolkmarFRBregmanJCohenDJCicchettiDVDSM-III and DSM-III-R diagnoses of autismAmerican Journal of Psychiatry19881451404140810.1176/ajp.145.11.14043189597
– reference: Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators Prevalence of autism spectrum disorders–autism and developmental disabilities monitoring network, 14 sites, United States, 2002Morbidity and Mortality Weekly Report2007561228
– reference: Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal InvestigatorsPrevalence of autism spectrum disorders—Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008Morbidity and Mortality Weekly Report2012613119
– reference: MillerJSBilderDFarleyMCoonHPinborough-ZimmermanJJensonWMcMahonWMAutism spectrum disorders reclassified: A second look at the 1980’s Utah/UCLA autism epidemiologic studyJournal of Autism and Developmental Disorders201343120021010.1007/s10803-012-1566-0226961954467195
– reference: American Psychiatric AssociationDiagnostic and statistical manual of mental disorders19803WashingtonAmerican Psychiatric Association
– reference: BreiNGKlein-TasmanBPSchwarzNGCasnarCLLanguage in young children with neurofibromatosis-1: Relations to functional communication, attention, and social functioningResearch in Developmental Disabilities2014352495250410.1016/j.ridd.2014.06.01624995687
– reference: MaennerMJRiceCEArnesonCLCunniffCSchieveLACarpenterLADurkinMSPotential impact of DSM-5 criteria on autism spectrum disorder prevalence estimatesJournal of the American Medical Association Psychiatry2014713292300244525044041577
– reference: GillbergCForsellCChildhood psychosis and neurofibromatosis—more than a coincidence?Journal of Autism and Developmental Disorders19841411810.1007/BF024085516423617
– reference: HymanSLArthurSENorthKNLearning disabilities in children with neurofibromatosis type 1: Subtypes, cognitive profile, and attention-deficit-hyperactivity disorderDevelopmental Medicine and Child Neurology20064897397710.1017/S001216220600213117109785
– reference: PlasschaertEDescheemaekerMVan EylenLNoensISteyaertJLegiusEPrevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1American Journal of Medical Genetics Part B: Neuropsychiatric Genetics20141681728010.1002/ajmg.b.32280
– reference: American Psychiatric AssociationDiagnostic and Statistical Manual of Mental Disorders20004WashingtonAmerican Psychiatric Association
– reference: FombonneEDu MazaubrunCCansCGrandjeanHAutism and associated medical disorders in a French epidemiological surveyJournal of the American Academy of Child and Adolescent Psychiatry1997361115691591
– reference: DiltsCVCareyJCKircherJCHoffmanROCreelDWardKLeonardCOChildren and adolescents with neurofibromatosis 1: A behavioral phenotypeJournal of Developmental and Behavioral Pediatrics19961722923910.1097/00004703-199608000-000048856518
– reference: HuijbregtsSCJde SonnevilleLMJDoes cognitive impairment explain behavioral and social problems of children with neurofibromatosis type 1?Behavior Genetics20114143043610.1007/s10519-010-9430-521184163
– reference: HymanSLShoresANorthKNThe nature and frequency of cognitive deficits in children with neurofibromatosis type 1Neurology2005651037104410.1212/01.wnl.0000179303.72345.ce16217056
– reference: WilliamsPGHershJHBrief report: the association of neurofibromatosis type 1 and autismJournal of Autism and Developmental Disorders199828656757110.1023/A:10260124141939932243
– reference: GargSGreenJLeadbitterKEmsleyRLehtonenAEvansEGHusonSMNeurofibromatosis type 1 and autism spectrum disorderPediatrics2013132e1642e164810.1542/peds.2013-186824190681
– reference: GargSLehtonenAHusonSMEmsleyRTrumpDEvansDGGreenJAutism and other psychiatric comorbidity in neurofibromatosis type 1: Evidence from a population-based studyDevelopmental Medicine and Child Neurology20135513914510.1111/dmcn.1204323163236
– reference: Hersh, J. H., & Committee on GeneticsHealth supervision for children with neurofibromatosisPediatrics200812163364210.1542/peds.2007-3364
– reference: Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal InvestigatorsPrevalence of autism spectrum disorder among children aged 8 years—Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010Morbidity and Mortality Weekly Report2014632121
– reference: National Institutes of Health Consensus Development ConferenceNeurofibromatosis conference statementArchives of Neurology19884557557810.1001/archneur.1988.00520290115023
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Snippet Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with neurodevelopmental disorders including autism spectrum disorder (ASD)....
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SourceType Open Access Repository
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Publisher
StartPage 3369
SubjectTerms Autism
Autism Spectrum Disorder - diagnosis
Autism Spectrum Disorder - epidemiology
Autism Spectrum Disorders
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Title Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network
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