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Volumn 36, Issue , 2008, Pages 1-25

Chapter 1 Newborn Screening for Intellectual Disability. Past, Present, and Future

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EID: 58249084042     PISSN: 00747750     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0074-7750(08)00001-3     Document Type: Review
Times cited : (5)

References (75)
  • 1
    • 33644665924 scopus 로고    scopus 로고
    • Pediatricians' attitudes toward expanding newborn screening
    • Acharya K., Ackerman P.D., and Ross L.F. Pediatricians' attitudes toward expanding newborn screening. Pediatrics 116 (2005) e476-e484
    • (2005) Pediatrics , vol.116
    • Acharya, K.1    Ackerman, P.D.2    Ross, L.F.3
  • 3
    • 0038624107 scopus 로고    scopus 로고
    • Ethical issues with genetic testing in pediatrics
    • American Academy of Pediatrics Committee on Bioethics
    • American Academy of Pediatrics Committee on Bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics 107 (2001) 1451-1455
    • (2001) Pediatrics , vol.107 , pp. 1451-1455
  • 4
    • 0001373172 scopus 로고    scopus 로고
    • Serving the family from birth to the medical home. Newborn screening: A blueprint for the future
    • American Academy of Pediatrics Newborn Screening Task Force
    • American Academy of Pediatrics Newborn Screening Task Force. Serving the family from birth to the medical home. Newborn screening: A blueprint for the future. Pediatrics 106 Supplement (2000) 389-427
    • (2000) Pediatrics , vol.106 , Issue.SUPPL , pp. 389-427
  • 5
    • 0028872836 scopus 로고
    • Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents
    • American Society of Human Genetics/American College of Medical Genetics (ASHG/ACMG)
    • American Society of Human Genetics/American College of Medical Genetics (ASHG/ACMG). Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics 57 (1995) 1233-1241
    • (1995) American Journal of Human Genetics , vol.57 , pp. 1233-1241
  • 6
    • 0003987981 scopus 로고
    • Andrews L.B., Fullarton J.E., Holtzman M.A., and Motulsky A.G. (Eds), National Institute of Sciences, Washington, DC
    • In: Andrews L.B., Fullarton J.E., Holtzman M.A., and Motulsky A.G. (Eds). Assessing genetic risks: Implications for health and social policy (1994), National Institute of Sciences, Washington, DC
    • (1994) Assessing genetic risks: Implications for health and social policy
  • 7
    • 23244460010 scopus 로고    scopus 로고
    • Women's attitudes toward testing for fragile X carrier status: A qualitative analysis
    • Anido A., Carlson L.M., Taft L., and Sherman S.L. Women's attitudes toward testing for fragile X carrier status: A qualitative analysis. Journal of Genetic Counseling 14 (2005) 295-301
    • (2005) Journal of Genetic Counseling , vol.14 , pp. 295-301
    • Anido, A.1    Carlson, L.M.2    Taft, L.3    Sherman, S.L.4
  • 8
    • 33847608680 scopus 로고    scopus 로고
    • Attitudes toward fragile X mutation carrier testing from women identified in a general population survey
    • Anido A., Carlson M., and Sherman S.L. Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. Journal of Genetic Counseling 16 (2007) 97-104
    • (2007) Journal of Genetic Counseling , vol.16 , pp. 97-104
    • Anido, A.1    Carlson, M.2    Sherman, S.L.3
  • 9
    • 0034416297 scopus 로고    scopus 로고
    • The federal role in early intervention: Prospects for the future
    • Bailey D.B. The federal role in early intervention: Prospects for the future. Topics in Early Childhood Special Education 20 2 (2000) 71-78
    • (2000) Topics in Early Childhood Special Education , vol.20 , Issue.2 , pp. 71-78
    • Bailey, D.B.1
  • 11
    • 52249117609 scopus 로고    scopus 로고
    • Supporting family adaptation to pre-symptomatic and "untreatable" conditions in an era of expanded newborn screening
    • Bailey D.B., Armstrong F.D., Kemper A.R., Skinner D., and Warren S.F. Supporting family adaptation to pre-symptomatic and "untreatable" conditions in an era of expanded newborn screening. Journal of Pediatric Psychology 33 (2008) 1-14
    • (2008) Journal of Pediatric Psychology , vol.33 , pp. 1-14
    • Bailey, D.B.1    Armstrong, F.D.2    Kemper, A.R.3    Skinner, D.4    Warren, S.F.5
  • 16
  • 17
    • 33644672227 scopus 로고    scopus 로고
    • 36-month outcomes for families of children with disabilities participating in early intervention
    • Bailey D.B., Hebbeler K., Spiker D., Scarborough A., Mallik S., and Nelson L. 36-month outcomes for families of children with disabilities participating in early intervention. Pediatrics 116 (2005) 1346-1352
    • (2005) Pediatrics , vol.116 , pp. 1346-1352
    • Bailey, D.B.1    Hebbeler, K.2    Spiker, D.3    Scarborough, A.4    Mallik, S.5    Nelson, L.6
  • 18
    • 35148814357 scopus 로고    scopus 로고
    • Modeling the impact of formal and informal supports for young children with disabilities and their families
    • Bailey D.B., Nelson L., Hebbeler K., and Spiker D. Modeling the impact of formal and informal supports for young children with disabilities and their families. Pediatrics 120 (2007) e992-e1001
    • (2007) Pediatrics , vol.120
    • Bailey, D.B.1    Nelson, L.2    Hebbeler, K.3    Spiker, D.4
  • 19
    • 0035591631 scopus 로고    scopus 로고
    • Identifying infants and toddlers with fragile X syndrome: Issues and recommendations
    • Bailey D.B., Roberts J.E., Mirrett P., and Hatton D. Identifying infants and toddlers with fragile X syndrome: Issues and recommendations. Infants and Young Children 14 (2001) 24-33
    • (2001) Infants and Young Children , vol.14 , pp. 24-33
    • Bailey, D.B.1    Roberts, J.E.2    Mirrett, P.3    Hatton, D.4
  • 20
    • 40949109764 scopus 로고    scopus 로고
    • Ethical, legal, and social concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues
    • Bailey D.B., Skinner D., Davis A., Whitmarsh I., and Powell C. Ethical, legal, and social concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues. Pediatrics 121 (2008) e693-e704
    • (2008) Pediatrics , vol.121
    • Bailey, D.B.1    Skinner, D.2    Davis, A.3    Whitmarsh, I.4    Powell, C.5
  • 22
    • 0037318153 scopus 로고    scopus 로고
    • Discovering fragile X syndrome: Family experiences and perceptions
    • Bailey D.B., Skinner D., and Sparkman K. Discovering fragile X syndrome: Family experiences and perceptions. Pediatrics 111 (2003) 407-416
    • (2003) Pediatrics , vol.111 , pp. 407-416
    • Bailey, D.B.1    Skinner, D.2    Sparkman, K.3
  • 23
    • 27644437938 scopus 로고    scopus 로고
    • Newborn screening for developmental disability: Reframing presumptive benefit
    • Bailey D.B., Skinner D., and Warren S.F. Newborn screening for developmental disability: Reframing presumptive benefit. American Journal of Public Health 95 (2005) 1889-1893
    • (2005) American Journal of Public Health , vol.95 , pp. 1889-1893
    • Bailey, D.B.1    Skinner, D.2    Warren, S.F.3
  • 27
    • 34548481991 scopus 로고    scopus 로고
    • Newborn screening in Latin America at the beginning of the 21st century
    • Borrajo G.J.C. Newborn screening in Latin America at the beginning of the 21st century. Journal of Inherited Metabolic Disorders 30 (2007) 466-481
    • (2007) Journal of Inherited Metabolic Disorders , vol.30 , pp. 466-481
    • Borrajo, G.J.C.1
  • 28
    • 33644692103 scopus 로고    scopus 로고
    • Research for newborn screening: Developing a national framework
    • Botkin J.R. Research for newborn screening: Developing a national framework. Pediatrics 116 (2005) 862-871
    • (2005) Pediatrics , vol.116 , pp. 862-871
    • Botkin, J.R.1
  • 30
    • 0942285246 scopus 로고    scopus 로고
    • Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: A cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections
    • Comeau A.M., Parad R.B., Dorkin H.L., Dovey M., Gerstle R., Haver K., et al. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: A cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 113 (2004) 1573-1581
    • (2004) Pediatrics , vol.113 , pp. 1573-1581
    • Comeau, A.M.1    Parad, R.B.2    Dorkin, H.L.3    Dovey, M.4    Gerstle, R.5    Haver, K.6
  • 31
    • 0004299939 scopus 로고
    • Committee for the Study of Inborn Errors of Metabolism, National Academy of Sciences, Washington, DC
    • Committee for the Study of Inborn Errors of Metabolism. Genetic screening programs, principles, and research (1975), National Academy of Sciences, Washington, DC
    • (1975) Genetic screening programs, principles, and research
  • 34
    • 34548510123 scopus 로고    scopus 로고
    • Neonatal screening: From the 'Guthrie age' to the 'genetic age
    • Dhondt J.-L. Neonatal screening: From the 'Guthrie age' to the 'genetic age. Journal of Inherited Metabolic Disorders 30 (2007) 418-422
    • (2007) Journal of Inherited Metabolic Disorders , vol.30 , pp. 418-422
    • Dhondt, J.-L.1
  • 35
    • 33846258467 scopus 로고    scopus 로고
    • Strategies to avoid the loss of developmental potential in more than 200 million children in the developing world
    • Engle P.L., Black M.M., Behrman J.R., de Mello M.C., Gertler P.J., Kapiriri L., et al. Strategies to avoid the loss of developmental potential in more than 200 million children in the developing world. Lancet 369 (2007) 229-242
    • (2007) Lancet , vol.369 , pp. 229-242
    • Engle, P.L.1    Black, M.M.2    Behrman, J.R.3    de Mello, M.C.4    Gertler, P.J.5    Kapiriri, L.6
  • 37
    • 33748551013 scopus 로고    scopus 로고
    • Parenting in the genomic age: The 'cursed blessing' of newborn screening
    • Grob R. Parenting in the genomic age: The 'cursed blessing' of newborn screening. New Genetics and Society 25 (2006) 159-170
    • (2006) New Genetics and Society , vol.25 , pp. 159-170
    • Grob, R.1
  • 38
    • 0037320232 scopus 로고    scopus 로고
    • Ethical issues raised by genetic testing with oligonucleotide mocroarrays
    • Grody W.W. Ethical issues raised by genetic testing with oligonucleotide mocroarrays. Molecular Biotechnology 23 (2003) 127-138
    • (2003) Molecular Biotechnology , vol.23 , pp. 127-138
    • Grody, W.W.1
  • 39
    • 13444271696 scopus 로고    scopus 로고
    • Does newborn screening save money? The difference between cost-effective and cost-saving interventions
    • Grosse S.D. Does newborn screening save money? The difference between cost-effective and cost-saving interventions. Journal of Pediatrics 146 (2005) 168-170
    • (2005) Journal of Pediatrics , vol.146 , pp. 168-170
    • Grosse, S.D.1
  • 40
    • 33645034271 scopus 로고    scopus 로고
    • From public health emergency to public health services: The implications of evolving criteria for newborn screening panels
    • Grosse S.D., Boyle C.A., Kenneson A., Khoury M.J., and Wilfond B.S. From public health emergency to public health services: The implications of evolving criteria for newborn screening panels. Pediatrics 117 (2006) 923-929
    • (2006) Pediatrics , vol.117 , pp. 923-929
    • Grosse, S.D.1    Boyle, C.A.2    Kenneson, A.3    Khoury, M.J.4    Wilfond, B.S.5
  • 41
    • 28044466200 scopus 로고    scopus 로고
    • Early intervention for children with intellectual disabilities: Current knowledge and future prospects
    • Guralnick M. Early intervention for children with intellectual disabilities: Current knowledge and future prospects. Journal of Applied Research in Intellectual Disabilities 18 (2005) 313-324
    • (2005) Journal of Applied Research in Intellectual Disabilities , vol.18 , pp. 313-324
    • Guralnick, M.1
  • 42
    • 33745297628 scopus 로고    scopus 로고
    • Expanded newborn screening for biochemical disorders: The effect of a false-positive result
    • Gurian E.A., Kinnamon D.D., Henry J.J., and Waisbren S.E. Expanded newborn screening for biochemical disorders: The effect of a false-positive result. Pediatrics 117 (2006) 1915-1921
    • (2006) Pediatrics , vol.117 , pp. 1915-1921
    • Gurian, E.A.1    Kinnamon, D.D.2    Henry, J.J.3    Waisbren, S.E.4
  • 43
    • 0032848965 scopus 로고    scopus 로고
    • Mutational analysis using oligonucleotide microarrays
    • Hacia J.G., and Collins F.S. Mutational analysis using oligonucleotide microarrays. Journal of Medical Genetics 36 (1999) 730-736
    • (1999) Journal of Medical Genetics , vol.36 , pp. 730-736
    • Hacia, J.G.1    Collins, F.S.2
  • 44
    • 33745620225 scopus 로고    scopus 로고
    • Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male
    • Han X., Powell B.R., Phalin J.L., and Chehab F.F. Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male. American Journal of Medical Genetics 140A (2006) 1463-1471
    • (2006) American Journal of Medical Genetics , vol.140 A , pp. 1463-1471
    • Han, X.1    Powell, B.R.2    Phalin, J.L.3    Chehab, F.F.4
  • 45
    • 33748704081 scopus 로고    scopus 로고
    • A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening
    • Hewlett J., and Waisbren S.E. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. Journal of Inherited Metabolic Disease 20 (2006) 677-682
    • (2006) Journal of Inherited Metabolic Disease , vol.20 , pp. 677-682
    • Hewlett, J.1    Waisbren, S.E.2
  • 46
    • 33750601475 scopus 로고    scopus 로고
    • Attitudes of genetic counselors toward expanding newborn screening and offering predictive genetic testing to children
    • Hiraki S., Ormond K.E., Kim K., and Ross L.F. Attitudes of genetic counselors toward expanding newborn screening and offering predictive genetic testing to children. American Journal of Medical Genetics Part A 140A (2006) 2312-2319
    • (2006) American Journal of Medical Genetics Part A , vol.140 A , pp. 2312-2319
    • Hiraki, S.1    Ormond, K.E.2    Kim, K.3    Ross, L.F.4
  • 51
    • 1642376040 scopus 로고    scopus 로고
    • Molecular and comparative genetics of mental retardation
    • Inlow J.K., and Restifo L.L. Molecular and comparative genetics of mental retardation. Genetics 166 (2004) 835-881
    • (2004) Genetics , vol.166 , pp. 835-881
    • Inlow, J.K.1    Restifo, L.L.2
  • 53
    • 33645798616 scopus 로고    scopus 로고
    • Quantifying the health benefits of genetic tests: The importance of a population perspective
    • Khoury M.J., Jones K., and Grosse S.D. Quantifying the health benefits of genetic tests: The importance of a population perspective. Genetics in Medicine 8 (2006) 191-195
    • (2006) Genetics in Medicine , vol.8 , pp. 191-195
    • Khoury, M.J.1    Jones, K.2    Grosse, S.D.3
  • 55
    • 3442884994 scopus 로고    scopus 로고
    • Newborn screening: Opportunities and challenges of tandem mass spectrometry
    • Materin D., and Rinaldo P. Newborn screening: Opportunities and challenges of tandem mass spectrometry. Clinical Laboratory News (2003, August) 12-15
    • (2003) Clinical Laboratory News , pp. 12-15
    • Materin, D.1    Rinaldo, P.2
  • 57
    • 1342347440 scopus 로고    scopus 로고
    • Developmental screening and detection of developmental delays in infants and toddlers with fragile X syndrome
    • Mirrett P.L., Bailey D.B., Roberts J.E., and Hatton D.D. Developmental screening and detection of developmental delays in infants and toddlers with fragile X syndrome. Developmental and Behavioral Pediatrics 25 (2004) 21-27
    • (2004) Developmental and Behavioral Pediatrics , vol.25 , pp. 21-27
    • Mirrett, P.L.1    Bailey, D.B.2    Roberts, J.E.3    Hatton, D.D.4
  • 60
    • 34548493905 scopus 로고    scopus 로고
    • Introducing new screens: Why are we all doing different things
    • Pollit R.J. Introducing new screens: Why are we all doing different things. Journal of Inherited Metabolic Disorders 30 (2007) 423-429
    • (2007) Journal of Inherited Metabolic Disorders , vol.30 , pp. 423-429
    • Pollit, R.J.1
  • 61
    • 0033058311 scopus 로고    scopus 로고
    • Early experience and early intervention for children "at risk" for developmental delay and mental retardation
    • Ramey S.L., and Ramey C.T. Early experience and early intervention for children "at risk" for developmental delay and mental retardation. Mental Retardation and Developmental Disabilities Research Reviews 5 (1999) 1-10
    • (1999) Mental Retardation and Developmental Disabilities Research Reviews , vol.5 , pp. 1-10
    • Ramey, S.L.1    Ramey, C.T.2
  • 62
    • 0035563878 scopus 로고    scopus 로고
    • Development and behavior of male toddlers with fragile X syndrome
    • Roberts J.E., Hatton D.D., and Bailey D.B. Development and behavior of male toddlers with fragile X syndrome. Journal of Early Intervention 24 (2001) 207-223
    • (2001) Journal of Early Intervention , vol.24 , pp. 207-223
    • Roberts, J.E.1    Hatton, D.D.2    Bailey, D.B.3
  • 63
    • 16244422307 scopus 로고    scopus 로고
    • Toward a biopsychosocial model for 21st-century genetics
    • Rolland J.S., and Williams J.K. Toward a biopsychosocial model for 21st-century genetics. Family Process 44 (2005) 3-24
    • (2005) Family Process , vol.44 , pp. 3-24
    • Rolland, J.S.1    Williams, J.K.2
  • 64
  • 66
    • 0142031147 scopus 로고    scopus 로고
    • Screening for fragile X syndrome: Parent attitudes and perspectives
    • Skinner D., Sparkman K., and Bailey D.B. Screening for fragile X syndrome: Parent attitudes and perspectives. Genetics in Medicine 5 (2003) 378-384
    • (2003) Genetics in Medicine , vol.5 , pp. 378-384
    • Skinner, D.1    Sparkman, K.2    Bailey, D.B.3
  • 67
    • 33748435678 scopus 로고    scopus 로고
    • State newborn screening in the tandem mass spectrometry era: More tests, more false-positive results
    • Tarini B.A., Christakis D.A., and Welch H.G. State newborn screening in the tandem mass spectrometry era: More tests, more false-positive results. Pediatrics 118 (2006) 448-456
    • (2006) Pediatrics , vol.118 , pp. 448-456
    • Tarini, B.A.1    Christakis, D.A.2    Welch, H.G.3
  • 70
    • 0141684982 scopus 로고    scopus 로고
    • Practical clinical trials: Increasing the value of clinical research for decision making in clinical and health policy
    • Tunis S.R., Stryer D.B., and Clancy C.M. Practical clinical trials: Increasing the value of clinical research for decision making in clinical and health policy. Journal of the American Medical Association 290 (2003) 1624-1632
    • (2003) Journal of the American Medical Association , vol.290 , pp. 1624-1632
    • Tunis, S.R.1    Stryer, D.B.2    Clancy, C.M.3
  • 71
    • 0142097486 scopus 로고    scopus 로고
    • United States General Accounting Office, U.S. General Accounting Office, Washington, DC (Report GAO-03-449)
    • United States General Accounting Office. Newborn screening: Characteristics of state programs (2003), U.S. General Accounting Office, Washington, DC (Report GAO-03-449)
    • (2003) Newborn screening: Characteristics of state programs
  • 72
    • 33846100716 scopus 로고    scopus 로고
    • Child development: Risk factors for adverse outcomes in developing countries
    • Walker S.P., Wachs T.D., Gardner J.M., Lozoff B., Wasserman G.A., Pollitt E., et al. Child development: Risk factors for adverse outcomes in developing countries. Lancet 369 (2007) 145-157
    • (2007) Lancet , vol.369 , pp. 145-157
    • Walker, S.P.1    Wachs, T.D.2    Gardner, J.M.3    Lozoff, B.4    Wasserman, G.A.5    Pollitt, E.6
  • 73
    • 33846017336 scopus 로고    scopus 로고
    • Current status of newborn screening: Decision-making about the conditions to include in screening programs
    • Watson M.S. Current status of newborn screening: Decision-making about the conditions to include in screening programs. Mental Retardation and Developmental Disabilities Research Reviews 12 (2006) 230-235
    • (2006) Mental Retardation and Developmental Disabilities Research Reviews , vol.12 , pp. 230-235
    • Watson, M.S.1
  • 74
    • 33747591403 scopus 로고    scopus 로고
    • Watson M.S., Mann M.M., Lloyd-Puryear M.A., Rinaldo P., and Howell R.R. (Eds)
    • In: Watson M.S., Mann M.M., Lloyd-Puryear M.A., Rinaldo P., and Howell R.R. (Eds). Newborn screening: Toward a uniform screening panel and system. Genetics in Medicine 8 Supplement 1 (2006) 1S-252S
    • (2006) Genetics in Medicine , vol.8 , Issue.SUPPL. 1


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