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Volumn 686, Issue , 2010, Pages 433-453

The contribution of rare diseases to understanding the epidemiology of neurodevelopmental disabilities

Author keywords

22q11.2 deletion syndrome; Autism spectrum disorders; Epidemiology; Fragile X syndrome; Intellectual disability; Neurodevelopmental disabilities; Rare disorders

Indexed keywords

ARTICLE; AUTISM; CHROMOSOME DELETION 22Q11; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; FRAGILE X SYNDROME; GENETIC DISORDER; GENETIC RISK; HUMAN; INTELLECTUAL IMPAIRMENT; NEURODEVELOPMENTAL DISABILITY; NEUROLOGIC DISEASE; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE; RISK ASSESSMENT; RISK FACTOR; CHILD; CHROMOSOME 22; CHROMOSOME DELETION; CLASSIFICATION; FEMALE; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; REVIEW;

EID: 79952045099     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-90-481-9485-8_24     Document Type: Article
Times cited : (3)

References (63)
  • 1
    • 79959568771 scopus 로고    scopus 로고
    • http://www.aaidd.org/content-104.cfm
  • 2
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • DOI 10.1038/nrg2346, PII NRG2346
    • Abrahams BS, Geschwind DH (2008) Advances in autism genetics: On the threshold of a new neurobiology. Nat Rev Genet 9(5):341-355 (Pubitemid 351556064)
    • (2008) Nature Reviews Genetics , vol.9 , Issue.5 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 3
    • 44149120272 scopus 로고    scopus 로고
    • The neurocognitive phenotype in velo-cardio-facial syndrome: A developmental perspective
    • DOI 10.1002/ddrr.7
    • Antshel K, Fremont W, Kates WR (2008) The neurocognitive phenotype in Velo-Cardio-Facial syndrome: A developmental perspective. Dev Disabil Res Rev 14:43-51 (Pubitemid 351716522)
    • (2008) Developmental Disabilities Research Reviews , vol.14 , Issue.1 , pp. 43-51
    • Antshel, K.M.1    Fremont, W.2    Kates, W.R.3
  • 4
    • 49449089705 scopus 로고    scopus 로고
    • Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey
    • Bailey DB Jr, Raspa M, Olmsted M, Holiday DB (2008) Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am J Med Genet A 146A:2060-2069
    • (2008) Am J Med Genet A , vol.146 A , pp. 2060-2069
    • Bailey Jr., D.B.1    Raspa, M.2    Olmsted, M.3    Holiday, D.B.4
  • 5
    • 33644829309 scopus 로고    scopus 로고
    • Prevalence of four developmental disabilities among children aged 8 years -Metropolitan Atlanta Developmental Disabilites Surveillance Program 1996 and 2000
    • Bhasin TK, Brocksen S, Avchen RN, Van Naarden Braun K (2006) Prevalence of four developmental disabilities among children aged 8 years -Metropolitan Atlanta Developmental Disabilites Surveillance Program, 1996 and 2000. MMWR Surveill Summ 55(SS-01):1-9
    • (2006) MMWR Surveill Summ , vol.55 , Issue.SS-01 , pp. 1-9
    • Bhasin, T.K.1    Brocksen, S.2    Avchen, R.N.3    Van Naarden Braun, K.4
  • 7
    • 61449101415 scopus 로고    scopus 로고
    • Health care use and health and functional impact of developmental disabilities among US children 1997-2005
    • Boulet SL, Boyle CA, Schieve LA (2009) Health care use and health and functional impact of developmental disabilities among US children, 1997-2005. Arch Pediatr Adolesc Med 163(1):19-26
    • (2009) Arch Pediatr Adolesc Med , vol.163 , Issue.1 , pp. 19-26
    • Boulet, S.L.1    Boyle, C.A.2    Schieve, L.A.3
  • 8
    • 0028157593 scopus 로고
    • Prevalence and health impact of developmental disabilities in US children
    • Boyle CA, Decouflé P, Yeargin-Allsopp M (1994) Prevalence and health impact of developmental disabilities in US children. Pediatrics 93(3):399-403 (Pubitemid 24067011)
    • (1994) Pediatrics , vol.93 , Issue.3 , pp. 399-403
    • Boyle, C.A.1    Decoufle, P.2    Yeargin-Allsopp, M.3
  • 9
    • 33846969944 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders -autism and developmental disabilities monitoring network 14 sites, United States, 2002
    • Centers for Disease Control and Prevention
    • Centers for Disease Control and Prevention (2007) Prevalence of autism spectrum disorders -autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Surveill Summ 56(1):12-28
    • (2007) MMWR Surveill Summ , vol.56 , Issue.1 , pp. 12-28
  • 10
    • 77957321584 scopus 로고    scopus 로고
    • Centers for Disease Control and Prevention (in press) Update on the prevalence of autism spectrum disorders -autism and developmental disabilities monitoring network, 11 sites, United States
    • Centers for Disease Control and Prevention (in press) Update on the prevalence of autism spectrum disorders -autism and developmental disabilities monitoring network, 11 sites, United States, 2006. MMWR Surveill Summ
    • (2006) MMWR Surveill Summ
  • 11
    • 70350519151 scopus 로고    scopus 로고
    • Incidence of fragile X syndrome by newborn screening for methylated
    • Centers for Disease Control and Prevention (in press) Update on the prevalence of autism spectrum disorders -autism and developmental disabilities monitoring network, 11 sites, United States, 2006. MMWR Surveill Summ 11. Coffee B, Krayton K, Albizua I, et al (2009) Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 85:503-514
    • (2009) FMR1 DNA. Am J Hum Genet , vol.85 , pp. 503-514
    • Coffee, B.1    Krayton, K.2    Albizua, I.3
  • 13
    • 0037629077 scopus 로고    scopus 로고
    • Autistic traits in the general population: A twin study
    • DOI 10.1001/archpsyc.60.5.524
    • Constantino JN, Todd RD (2003) Autistic traits in the general population: A twin study. Arch Gen Psychiatry 60(5):524-530 (Pubitemid 36539062)
    • (2003) Archives of General Psychiatry , vol.60 , Issue.5 , pp. 524-530
    • Constantino, J.N.1    Todd, R.D.2
  • 15
    • 0035379735 scopus 로고    scopus 로고
    • The epidemiology of mental retardation of unknown cause
    • Croen LA, Grether JK, Selvin S (2001) The epidemiology of mental retardation of unknown cause. Pediatrics 107:E86
    • (2001) Pediatrics , vol.107
    • Croen, L.A.1    Grether, J.K.2    Selvin, S.3
  • 18
    • 0028913163 scopus 로고
    • Variation in the influence of selected sociodemographic risk factors for mental retardation
    • Drews CD, Yeargin-Allsopp M, Decoufle P, et al (1995) Variation in the influence of selected sociodemographic risk factors for mental retardation. Am J Public Health 85:329-334
    • (1995) Am J Public Health , vol.85 , pp. 329-334
    • Drews, C.D.1    Yeargin-Allsopp, M.2    Decoufle, P.3
  • 20
    • 0033837083 scopus 로고    scopus 로고
    • Practice parameter: Screening and diagnosis of autism
    • Report of the quality standards subcommittee of the American Academy of Neurology and the Child Neurology Society
    • Filipek P, Accardo PJ, Ashwal S, et al (2000) Practice parameter: Screening and diagnosis of autism. Report of the quality standards subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 55:468-479
    • (2000) Neurology , vol.55 , pp. 468-479
    • Filipek, P.1    Accardo, P.J.2    Ashwal, S.3
  • 21
    • 0141427915 scopus 로고    scopus 로고
    • Epidemiological surveys of autism and other pervasive developmental disorders: An update
    • DOI 10.1023/A:1025054610557
    • Fombonne E (2003) Epidemiological surveys of autism and other pervasive developmental disorders: An update. J Autism Dev Disord 33(4):365-82 (Pubitemid 37127933)
    • (2003) Journal of Autism and Developmental Disorders , vol.33 , Issue.4 , pp. 365-382
    • Fombonne, E.1
  • 22
    • 67049118065 scopus 로고    scopus 로고
    • Epidemiology of pervasive developmental disorders
    • Fombonne E (2009) Epidemiology of pervasive developmental disorders. Pediatr Res 65(6):591-598
    • (2009) Pediatr Res , vol.65 , Issue.6 , pp. 591-598
    • Fombonne, E.1
  • 26
    • 1642376040 scopus 로고    scopus 로고
    • Molecular and Comparative Genetics of Mental Retardation
    • DOI 10.1534/genetics.166.2.835
    • Inlow JK, Restifo LL (2004). Molecular and comparative genetics of mental retardation. Genetics 166:835-881 (Pubitemid 38391747)
    • (2004) Genetics , vol.166 , Issue.2 , pp. 835-881
    • Inlow, J.K.1    Restifo, L.L.2
  • 31
    • 34147222611 scopus 로고    scopus 로고
    • Autism and cytogenetic abnormalities: Solving autism one chromosome at a time
    • Martin CL, Ledbetter DH (2007) Autism and cytogenetic abnormalities: Solving autism one chromosome at a time. Curr Psychiatry Rep 9(2):141-147 (Pubitemid 46579152)
    • (2007) Current Psychiatry Reports , vol.9 , Issue.2 , pp. 141-147
    • Martin, C.L.1    Ledbetter, D.H.2
  • 32
    • 0035746391 scopus 로고    scopus 로고
    • Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
    • McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al (2001) Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net! Genet Med 3:23-29
    • (2001) Genet Med , vol.3 , pp. 23-29
    • McDonald-McGinn, D.M.1    Tonnesen, M.K.2    Laufer-Cahana, A.3
  • 33
    • 43149107473 scopus 로고    scopus 로고
    • Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability
    • DOI 10.1097/WCO.0b013e3282f82c2d, PII 0001905220080400000003
    • Moeschler JB (2008) Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability. Curr Opin Neurol 21:117-122 (Pubitemid 351644150)
    • (2008) Current Opinion in Neurology , vol.21 , Issue.2 , pp. 117-122
    • Moeschler, J.B.1
  • 36
    • 70350430194 scopus 로고    scopus 로고
    • Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider autism spectrum disorder population
    • Moss J, Howlin P (2009) Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res 53(10):852-873
    • (2009) J Intellect Disabil Res , vol.53 , Issue.10 , pp. 852-873
    • Moss, J.1    Howlin, P.2
  • 37
    • 0032882849 scopus 로고    scopus 로고
    • High rates of schizophrenia in adults with velo-cardio-facial syndrome
    • DOI 10.1001/archpsyc.56.10.940
    • Murphy KC, Jones LA, Owen MJ (1999) High rates of schizophrenia in adults with velocardio-facial syndrome. Arch Gen Psychiatry 56:940-945 (Pubitemid 29480131)
    • (1999) Archives of General Psychiatry , vol.56 , Issue.10 , pp. 940-945
    • Murphy, K.C.1    Jones, L.A.2    Owen, M.J.3
  • 39
    • 0031896034 scopus 로고    scopus 로고
    • The long-term course of autistic disorders: Update on follow-up studies
    • Nordin V, Gillberg C (1998) The long-term course of autistic disorders: Update on follow-up studies. Acta Psychiatr Scand 97(2):99-108 (Pubitemid 28145453)
    • (1998) Acta Psychiatrica Scandinavica , vol.97 , Issue.2 , pp. 99-108
    • Nordin, V.1    Gillberg, C.2
  • 40
    • 33645893472 scopus 로고    scopus 로고
    • Autistic features in a total population of 7-9-year-old children assessed by the ASSQ (Autism Spectrum Screening Questionnaire)
    • Posserud MB, Lundervold AJ, Gillberg C (2006). Autistic features in a total population of 7-9-year-old children assessed by the ASSQ (Autism Spectrum Screening Questionnaire). J Child Psychol Psychiatr 47(2):167-175
    • (2006) J Child Psychol Psychiatr , vol.47 , Issue.2 , pp. 167-175
    • Posserud, M.B.1    Lundervold, A.J.2    Gillberg, C.3
  • 41
    • 33645294086 scopus 로고    scopus 로고
    • Rare Diseases Task Force Report to the European Commission High Level Group on Health Care
    • Rare Diseases Task Force Report to the European Commission High Level Group on Health Care (2005) Overview of Current Centres of Reference on rare diseases in the EU. http://ec.europa.eu/health/ph-threats/non-com/rare-8-en. print.htm
    • (2005) Overview of Current Centres of Reference on Rare Diseases in the EU
  • 43
    • 34547817696 scopus 로고    scopus 로고
    • New perspectives for the elucidation of genetic disorders
    • Ropers HH (2007) New perspectives for the elucidation of genetic disorders. Am J Hum Genet 81:199-207
    • (2007) Am J Hum Genet , vol.81 , pp. 199-207
    • Ropers, H.H.1
  • 45
    • 33748742182 scopus 로고    scopus 로고
    • Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders
    • DOI 10.1097/01.gim.0000237789.98842.f1, PII 0012581720060900000002
    • Schaefer GB, Lutz RE (2006) Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med 8:549-556 (Pubitemid 44402031)
    • (2006) Genetics in Medicine , vol.8 , Issue.9 , pp. 549-556
    • Schaefer, G.B.1    Lutz, R.E.2
  • 46
    • 42149168524 scopus 로고    scopus 로고
    • Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
    • DOI 10.1097/GIM.0b013e31816b5cc9, PII 0012581720080400000010
    • Schaefer GB, Mendelsohn NJ (2008) Clinical genetics evaluation in identifying the etiology of the autism spectrum disorders. Genet Med 10: 301-305 (Pubitemid 351544133)
    • (2008) Genetics in Medicine , vol.10 , Issue.4 , pp. 301-305
    • Schaefer, G.B.1    Mendelsohn, N.J.2
  • 47
    • 34247097562 scopus 로고    scopus 로고
    • The renaming of mental retardation: Understanding the change to the term intellectual disability
    • Schalock RL, Luckasson RA, Karrie A, et al (2007) The renaming of mental retardation: Understanding the change to the term intellectual disability. Intellect Dev Disabil 45:116-124
    • (2007) Intellect Dev Disabil , vol.45 , pp. 116-124
    • Schalock, R.L.1    Luckasson, R.A.2    Karrie, A.3
  • 50
    • 0037432002 scopus 로고    scopus 로고
    • Practice parameter: Evaluation of the child with global developmental delay: Report of the quality standards subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
    • Shevell M, Ashwal S, Donley D et al (2003) Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 60 (3): 367-380 (Pubitemid 36188229)
    • (2003) Neurology , vol.60 , Issue.3 , pp. 367-380
    • Shevell, M.1    Ashwal, S.2    Donley, D.3    Flint, J.4    Gingold, M.5    Hirtz, D.6    Majnemer, A.7    Noetzel, M.8    Sheth, R.D.9
  • 51
    • 52949151959 scopus 로고    scopus 로고
    • Global developmental delay and mental retardation or intellectual disability: Conceptualization, evaluation, and etiology
    • ShevellM(2008) Global developmental delay and mental retardation or intellectual disability: Conceptualization, evaluation, and etiology. Pediatr Clin North Am 55:1071-1084
    • (2008) Pediatr Clin North Am , vol.55 , pp. 1071-1084
    • Shevell, M.1
  • 52
    • 34447628063 scopus 로고    scopus 로고
    • Rethinking the nature of genetic vulnerability to autistic spectrum disorders
    • DOI 10.1016/j.tig.2007.06.003, PII S0168952507002120
    • Skuse D. (2007) Rethinking the nature of genetic vulnerability to autism spectrum disorders. Trends Genet 23: 387-395 (Pubitemid 47088014)
    • (2007) Trends in Genetics , vol.23 , Issue.8 , pp. 387-395
    • Skuse, D.H.1
  • 53
    • 0035746362 scopus 로고    scopus 로고
    • Communication issues in 22q11.2 deletion syndrome: Children at risk
    • Solot CB, Gerdes M, Kirschner RE, et al (2001) Communication issues in 22q11.2 deletion syndrome: Children at risk. Genet Med 3:67-71
    • (2001) Genet Med , vol.3 , pp. 67-71
    • Solot, C.B.1    Gerdes, M.2    Kirschner, R.E.3
  • 54
    • 33746817156 scopus 로고    scopus 로고
    • Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay
    • DOI 10.1542/peds.2005-2702
    • Srour M, Mazer B, Shevell MI (2006) Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay. Pediatrics 118:139-145 (Pubitemid 46074631)
    • (2006) Pediatrics , vol.118 , Issue.1 , pp. 139-145
    • Srour, M.1    Mazer, B.2    Shevell, M.I.3
  • 55
    • 0027446503 scopus 로고
    • Molecular genetic advances in fragile X syndrome
    • Tarleton JC, Saul RA (1993) Molecular genetic advances in fragile X syndrome. J Pediatr 122:169-185 (Pubitemid 23041542)
    • (1993) Journal of Pediatrics , vol.122 , Issue.2 , pp. 169-185
    • Tarleton, J.C.1    Saul, R.A.2
  • 56
    • 12744278217 scopus 로고    scopus 로고
    • Diagnostic investigations in individuals with mental retardation: A systematic literature review of their usefulness
    • Van Karnebeek CDM, JansweijerMCE, Leenders AGE, et al (2005) Diagnostic investigations in individuals with mental retardation: A systematic literature review of their usefulness. Eur J Hum Genet 13: 6-25
    • (2005) Eur J Hum Genet , vol.13 , pp. 6-25
    • Van Karnebeek, C.D.M.1    Jansweijer, M.C.E.2    Leenders, A.G.E.3
  • 58
    • 0018930574 scopus 로고
    • Childhood autism and social class: A question of selection?
    • Wing L (1980) Childhood autism and social class: A question of selection. Br J Psychiatr 137: 410-417 (Pubitemid 10030104)
    • (1980) British Journal of Psychiatry , vol.137 , Issue.5 , pp. 410-417
    • Wing, L.1
  • 59
    • 0028925537 scopus 로고
    • Mild mental retardation in black and white children in metropolitan Atlanta: A case-control study
    • Yeargin-Allsopp M, Drews CD, Decoufle P, et al (1995). Mild mental retardation in black and white children in metropolitan Atlanta: A case-control study. Am J Public Health 85: 324-328
    • (1995) Am J Public Health , vol.85 , pp. 324-328
    • Yeargin-Allsopp, M.1    Drews, C.D.2    Decoufle, P.3
  • 62
    • 34548572847 scopus 로고    scopus 로고
    • The impact of array genomic hybridization on mental retardation research: A review of current technologies and their clinical utility
    • DOI 10.1111/j.1399-0004.2007.00847.x
    • 62, Zahir F, Friedman JM(2007) The impact of array genomic hybridization on mental retardation research: A review of current technologies and their clinical utility. Clin Genet 72: 271-287 (Pubitemid 47394217)
    • (2007) Clinical Genetics , vol.72 , Issue.4 , pp. 271-287
    • Zahir, F.1    Friedman, J.M.2
  • 63
    • 62649125245 scopus 로고    scopus 로고
    • Neurometabolic disorders and dysfunction in autism spectrum disorders
    • Zecavati N, Spence SJ (2009) Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep 9(2):129-136
    • (2009) Curr Neurol Neurosci Rep , vol.9 , Issue.2 , pp. 129-136
    • Zecavati, N.1    Spence, S.J.2


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