Single Gene Disease Risk

  • Tricia See
  • Cynthia J. Tifft
Part of the Issues in Clinical Child Psychology book series (ICCP)


The diagnosis of a child with a single gene disorder can take on different meanings for different families. It is not uncommon for some families to arrive at a pediatric genetics clinic after months or years of searching for an underlying reason for their child’s symptoms. The fact that, through genetic testing, clinicians can put a name to the collection of differences already noted in the child provides the family access to prognostic information, supportive resources, more accurate reproductive risk counseling, and possible relief from the burden of uncertainty.


Cystic Fibrosis Parental Stress Duchenne Muscular Dystrophy Enzyme Replacement Therapy Fabry Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Alexander, D., & Hanson, J. W. (2006). NICHD research initiative in newborn screening. Mental Retardation and Developmental Disabilities Research Reviews, 12, 301–304.PubMedCrossRefGoogle Scholar
  2. American Academy of Pediatrics Ad Hoc Task Force on Definition of the Medical Home (1992). The medical home. Pediatrics, 90(5), 774.Google Scholar
  3. American Academy of Pediatrics (2002). American Academy of Pediatrics: Policy statement. Medical home initiatives for children with special needs project advisory committee: The medical home. Pediatrics, 110(1), 184–186.CrossRefGoogle Scholar
  4. American Academy of Pediatrics, Newborn Screening Task Force (2000). Serving the family from birth to the medical home. Newborn screening: a blueprint for the future – a call for a national agenda on state newborn screening programs. Pediatrics, 106(2 Pt 2), 389–422.Google Scholar
  5. Bailey, D. (2004). Newborn screening for fragile X syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 10, 3–10.PubMedCrossRefGoogle Scholar
  6. Bailey, D., Sideris, J., Roberts, J., & Hatton, D. (2008). Child and genetic variables associated with maternal adaptation to fragile X syndrome: a multidimensional analysis. American Journal of Medical Genetics Part A, 146A, 720–729.PubMedCrossRefGoogle Scholar
  7. Bailey, D., Skinner, D., & Sparkman, K. (2003). Discovering fragile X syndrome: family experiences and perceptions. Pediatrics, 111, 407–416.PubMedCrossRefGoogle Scholar
  8. Beadle, C. M. (2004). My life with NF1. Archives of Disease in Childhood, 89(6), 587.Google Scholar
  9. Beale, I. (2006). Scholarly literature review: efficacy of psychological interventions for pediatric chronic illnesses. Journal of Pediatric Psychology, 31(5), 437–451.PubMedCrossRefGoogle Scholar
  10. Bosch, A. M., Tybout, W., van Spronsen, F. J., de Valk, H. W., Wijburg, F. A., & Grootenhuis, M. A. (2007). The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. Journal of Inherited Metabolic Disease, 30, 29–34.PubMedCrossRefGoogle Scholar
  11. Botkin, J. R., Clayton, E. W., Fost, N. C., Burke, W., Murray, T. H., Baily, M. A., et al. (2006). Newborn screening technology: proceed with caution. Pediatrics, 117, 1793–1799.PubMedCrossRefGoogle Scholar
  12. Boyle, I. R., di Sant’Agnese, P. A., Sack, S., Millican, F., & Kulczycki, L. L. (1976). Emotional adjustment of adolescent and young adults with cystic fibrosis. Journal of Pediatrics, 88, 318–326.PubMedCrossRefGoogle Scholar
  13. Caggana, M., Saavedra, C., Wenger, D., Helton, L., & Orsini, J. (2008). Newborn screening for Krabbe disease in New York state: Experience from the first year. Proceedings of the 4th Annual Lysosomal Disease Network WORLD Symposium, Las Vegas, NV.Google Scholar
  14. Centers for Disease Control and Prevention (2003). National Vital Statistics Reports, 52, 1–114.Google Scholar
  15. Charmaz, K. (2000). Experiencing chronic illness. In G. L. Albrecht, R. Fitzpatrick, & S. C. Scrimshaw (Eds.), Handbook of social studies in health and medicine. London: Sage.Google Scholar
  16. Chen, J., & Clark, M. (2007). Family function in families of children with Duchenne muscular dystrophy. Family and Community Health, 30(4), 296–304.PubMedCrossRefGoogle Scholar
  17. Ciske, D. J., Haavisto, A., Laxova, A., Zeng, L., Rock, M., & Farrell, P. M. (2001). Genetic counseling and neonatal screening for cystic fibrosis: An assessment of the communication process. Pediatrics, 107, 699–705.PubMedCrossRefGoogle Scholar
  18. Cooksey, J. A., Forte, G., Benkendorf, J., & Blitzer, M. G. (2005). The state of the medical geneticist workforce: Findings of the 2003 survey of American Board of Medical Genetics certified geneticists. Genetics in Medicine, 7(6), 439–443.PubMedCrossRefGoogle Scholar
  19. Dine, L., & Terzioglu, F. (2005). The psychological impact of genetic testing on parents. Journal of Clinical Nursing, 15, 45–51.Google Scholar
  20. Essex, M. J., Klein, M. H., Cho, E., & Kalin, N. H. (2002). Maternal stress beginning in infancy may sensitize children to later stress exposure: effects on cortisol and behavior. Biological Psychiatry, 52(8), 776–784.Google Scholar
  21. Fant, K., Clark, S., & Kemper, A. (2005). Completeness and complexity of information available to parents from newborn-screening programs. Pediatrics, 115(5), 1268–1272.PubMedCrossRefGoogle Scholar
  22. Foster, C. L., Bryon, M., & Eiser C. (1998). Correlates of well-being in mothers of children and adolescents with cystic fibrosis. Child: care, health, and development, 24(1), 41–56.Google Scholar
  23. Franklin, C. (2006). The neonatal nurse’s role in parental attachment in the NICU. Critical Care Nursing Quarterly, 29(1), 81–85.PubMedGoogle Scholar
  24. Fyro, K., & Bodegard, G. (1987). Four-year follow-up of psychological reactions to false positive screening tests for congenital hypothyroidism. Acta Paediatrica Scandinavica, 76, 107–114.PubMedCrossRefGoogle Scholar
  25. Gallo, A. M., Angst, D. A., & Hadley, E. (2005). Parents sharing information with their children about genetic conditions. Journal of Pediatric Health Care, 19(5), 267–275.PubMedCrossRefGoogle Scholar
  26. Graetz, B., Shute, R., & Sawyer, M. (2000). An Australian study of adolescents with cystic fibrosis: Perceived supportive and non-supportive behavior from families and friends and psychological adjustment. The Journal of Adolescent Health, 26, 64–69.PubMedCrossRefGoogle Scholar
  27. Green, M., & Solnit, A. J. (1964). Reactions to the threatened loss of a child: Vulnerable child syndrome. Pediatrics, 34, 58–66.PubMedGoogle Scholar
  28. Green, M. J., & Botkin, J. R. (2003). ``Genetic exceptionalism’ in medicine: clarifying the differences between genetic and nongenetic tests. Annals of Internal Medicine, 138(7), 571–575.Google Scholar
  29. Gurian, E., Kinnamon, D., Henry, J., & Waisbren, S. (2006). Expanded newborn screening for biochemical disorders: The effect of a false-positive result. Pediatrics, 117, 1915–1921.PubMedCrossRefGoogle Scholar
  30. Hahn, R. A. (1997). The nocebo phenomenon: Concept, evidence, and implications for public health. Preventive Medicine, 26, 607–611.PubMedCrossRefGoogle Scholar
  31. Hendrikx, M. M., van der Schot, L. W., Slijper, F. M., Huisman, J., & Kalverboer, A. F. (1994). Phenylketonuria and some aspects of emotional development. European Journal of Pediatrics, 153(11), 832–835.Google Scholar
  32. Hewlett, J., & Waisbern, S. E. (2006). A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. Journal of Inherited Metabolic Disease, 29, 677–682.PubMedCrossRefGoogle Scholar
  33. Hodgkinson, R., & Lester, H. (2002). Stresses and coping strategies of mothers living with a child with cystic fibrosis: implications for nursing professionals. Journal of Advanced Nursing, 39(4), 377–383.Google Scholar
  34. Ip, S., Chung, M., Raman, G., Chew, P., Magula, N., DeVein, D., et al. (2007). Breastfeeding and maternal and infant health outcomes in developed countries. Evidence report/technology assessment No. 153 (prepared by Tufts-New England Medical Center Evidence-Based Practice Center, under Contract No. 290-02-0022). AHRQ Publications No. 07-E007. Rockville, MD: Agency for Healthcare Research and Quality.Google Scholar
  35. James, P. W., & Levy, H. L. (2006). The clinical aspects of newborn screening: Importance of newborn screening follow-up. Mental Retardation and Developmental Disabilities Research Reviews, 12, 246–254.PubMedCrossRefGoogle Scholar
  36. Kemper, A. R., Hwu, W. L., Lloyd-Puryear, M., & Kishnani, P. S. (2007). Newborn screening for Pompe disease: Synthesis of the evidence and development of screening recommendations. Pediatrics, 120, e1327–e1334.PubMedCrossRefGoogle Scholar
  37. Kemper, A. R., Uren, R. L., Moseley, K. L., & Clark, S. J. (2006). Primary care physicians’ attitudes regarding follow-up care for children with positive newborn screening results. Pediatrics, 118, 1836–1841.PubMedCrossRefGoogle Scholar
  38. Kennedy, W. P. (1961). The nocebo reaction. Medical World, 91, 203–205.Google Scholar
  39. Kenner, C. (2003). Family centered care. In C. Kenner (Ed.), Comprehensive neonatal nursing: A physiologic perspective (3rd ed., pp. 91–105). Philadelphia: W.B. Saunders.Google Scholar
  40. Kim, S., Lloyd-Puryear, M., & Tonniges, T. (2003). Examination of the communication practices between state newborn screening programs and the medical home. Pediatrics, 111, e120–e126.PubMedCrossRefGoogle Scholar
  41. Koscik, R. L., Douglas, J. A., Zaremba, K., Rock, M. J., Splaingard, M. L., Laxova, A., et al. (2005). Quality of life of children with cystic fibrosis. The Journal of Pediatrics, 147, S64–S68.PubMedCrossRefGoogle Scholar
  42. Laird, L., Dezateux, C., & Anionwu, E. N. (1996). Neonatal screening for sickle cell disorders: what about the carrier infants? BMJ, 313(7054), 407–411.Google Scholar
  43. Landolt, M. A., Nuoffer, J. M., Steinmann, B., & Superti-Furga, A. (2002). Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. The Journal of Pediatrics, 140(5), 516–521.PubMedCrossRefGoogle Scholar
  44. Levers, C. E., & Drotar, D. (1996). Family and parental functioning in cystic fibrosis. Journal of Developmental and Behavioral Pediatrics, 17, 48–55.CrossRefGoogle Scholar
  45. Lewis, B., & Khaw, K. (1982). Family functioning as a mediating variable affecting psychosocial adjustment in children with cystic fibrosis. Journal of Pediatrics, 101, 636–640.PubMedCrossRefGoogle Scholar
  46. Martin, P., Carter, S. L., Kernan, N. A., Sahdev, I., Wall, D., Pietryga, D., et al. (2006). Results of the cord blood transplantation study (COBLT): Outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage disorders. Biology of Blood and Marrow Transplantation, 12, 184–194.PubMedCrossRefGoogle Scholar
  47. McCubbin, M., & McCubbin, H. (1993). Families coping with illness: The resiliency model of family stress, adjustment, and adaptation. In C. B. Danielson, B. Hamel-Bissell, & P. Winstead-Fry (Eds.), Families, health, & illness: Perspectives on coping and intervention (pp. 21–63). St. Louis, MO: Mosby.Google Scholar
  48. Merelle, M., Huisman, J., Alderden-van der Vecht, A., Taat, F., Bezemer, D., Griffioen, R., et al. (2003). Early versus late diagnosis: Psychological impact on parents of children with cystic fibrosis. Pediatrics, 111, 346–350.PubMedCrossRefGoogle Scholar
  49. Nereo, N. E., & Hinton, V. J. (2003). Three wishes and psychological functioning in boys with duchenne muscular dystrophy. Journal of Developmental and Behavioral Pediatrics, 24(2), 96–103.Google Scholar
  50. Newborn Screening: Towards a uniform screening panel and system. (2006). Genetics in Medicine, 117(8, Suppl 1), 1S–252S.Google Scholar
  51. Nadeau, L., & Tessier, R. (2006). Social adjustment of children with cerebral palsy in mainstream classes: Peer perception. Developmental Medicine and Child Neurology, 48(5), 331–336.PubMedCrossRefGoogle Scholar
  52. Olson, D. H., Sprenkle, D. H., & Russell, C. S. (1979). Circumplex model of marital and family system: I. Cohesion and adaptability dimensions, family types, and clinical applications. Family Process, 18(1), 3–28.PubMedCrossRefGoogle Scholar
  53. Patterson, J., McCubbin, H., & Warwick, W. (1990). The impact of family functioning on health changes in children with cystic fibrosis. Social Science and Medicine, 31, 159–164.PubMedCrossRefGoogle Scholar
  54. Petersen, A. (2006). The best experts: The narratives of those who have a genetic condition. Social Science and Medicine, 63, 32–42.PubMedCrossRefGoogle Scholar
  55. Pilnick, A., & Dingwall, R. (2001). Research directions in genetic counseling: A review of the literature. Patient Education and Counseling, 44, 95–105.PubMedCrossRefGoogle Scholar
  56. Pipp-Siegel, S., Sedey, A. L., & Yoshinaga-Itano, C. (2001). Predictors of parental stress of mothers of young children with hearing loss. Journal of Deaf Studies and Deaf Education, 7, 1–17.CrossRefGoogle Scholar
  57. Quinlivan, J. A., & Suriadi, C. (2006). Attitudes of new mothers towards genetics and newborn screening. Journal of Psychosomatic Obstetrics and Gynecology, 27(1), 67–72.PubMedCrossRefGoogle Scholar
  58. Ris, M. D., Weber, A. M., Hunt, M. M., Berry, H. K., Williams, S. E., & Leslie, N. (1997). Adult psychosocial outcome in early-treated phenylketonuria. Journal of Inherited Metabolic Disease, 20(4), 499–508.Google Scholar
  59. Ross, L. F. (2006). Screening for conditions that do not meet with Wilson and Jungner criteria: The case of Duchenne muscular dystrophy. American Journal of Medical Genetics, 140A, 914–922.CrossRefGoogle Scholar
  60. Rothenberg, M. B., & Sills, E. M. (1968). Iatrogenesis: The PKU anxiety syndrome. Journal of the American Academy of Child Psychiatry, 7, 689–692.PubMedCrossRefGoogle Scholar
  61. Saul, R., & Tarleton, J. C. (2008, March 7). (Last revision March 7, 2008). FMR1-related disorders. Retrieved from
  62. Skinner, D., Sparkman, K., & Bailey, D. (2003). Screening for fragile X syndrome: Parent attitudes and perspectives. Genetics in Medicine, 5(5), 378–384.PubMedCrossRefGoogle Scholar
  63. Spada, M., Pagliardini, S., Yasuda, M., Tukel, T., Thiagarajan, G., Sakuraba, H., et al. (2006). High incidence of later-onset Fabry disease revealed by newborn screening. The American Journal of Human Genetics, 79, 31–40.CrossRefGoogle Scholar
  64. Stemerdink, B. A., Kalverboer, A. F., van der Meere, J. J., van der Molen, M. W., Huisman, J., de Jong, L. W., et al. (2000). Behaviour and school achievement in patients with early and continuously treated phenylketonuria. Journal of Inherited Metabolic Disease, 23(6), 548–562.Google Scholar
  65. Suter, S. M. (2001). The allure and peril of genetics exceptionalism: do we need special genetics legislation? Washington University Law Quarterly, 79(3), 669–748.Google Scholar
  66. Szyndler, J. E., Towns, S. J., van Asperen, P. P., & McKay, K. O. (2005). Psychological and family functioning and quality of life in adolescents with cystic fibrosis. Journal of Cystic Fibrosis, 4(2), 135–144.PubMedCrossRefGoogle Scholar
  67. Tluczek, A., Mischler, E. H., Bowers, B., Peterson, N. M., Morris, M. E., Farrell, P. M., et al. (1991). Psychological impact of false-positive results when screening for cystic fibrosis. Pediatric Pulmonology Supplement, 7, 29–37.PubMedCrossRefGoogle Scholar
  68. Tluczek, A., Mischler, E. H., Farrell, P. M., Fost, N., Peterson, N. M., Carey, P., et al. (1992). Parents’ knowledge of neonatal screening and response to false-positive cystic fibrosis testing. Journal of Developmental and Behavioral Pediatrics, 13, 181–186.PubMedCrossRefGoogle Scholar
  69. Van Naarden Braun, K., Yeargin-Allsopp, M., Schendel, D., & Fernhoff, P. (2003). Long-term developmental outcomes of children identified through a newborn screening program with a metabolic or endocrine disorder: a population-based approach. The Journal of Pediatrics, 143(2), 236–242.Google Scholar
  70. Waisbren, S. E., Albers, S., Amato, S., Ampola, M., Brewster, T. G., Demmer, L., et al. (2003). Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA, 290(19), 2564–2572.PubMedCrossRefGoogle Scholar
  71. Wang, K, & Barnard, A. (2004). Technology-dependent children and their families: A review. Journal of Advanced Nursing, 45, 36–46.PubMedCrossRefGoogle Scholar
  72. Weber, P., Scholl, S., & Baumgartner, E. R. (2004). Outcomes in patients with profound biotinidase deficiency: Relevance of newborn screening. Developmental Medicine and Child Neurology, 46, 481–484.PubMedCrossRefGoogle Scholar
  73. Weglage, J., Grenzebach, M., Pietsch, M., Feldman, R., Linnenbank, R., Denecke, J., et al. (2000). Behavioral and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. Journal of Inherited Metabolic Disease, 23, 487–496.PubMedCrossRefGoogle Scholar
  74. Wilson, J., & Jungner, F. (1968). Principles and practice of screening for disease (Public Health Papers, No. 34). Geneva: World Health Organization.Google Scholar
  75. Yoshinaga-Itano, C. (2003). Early intervention after universal neonatal hearing screening: Impact on outcomes. Mental Retardation and Developmental Disabilities Research Reviews, 9, 252–266.PubMedCrossRefGoogle Scholar
  76. Yoshinaga-Itano C., & Abdala de Uzcategui C. (2001). Early identification and social emotional factors of children with hearing loss and children screened for hearing loss. In: Early Childhood Deafness. Eds. Kurtzer-White, E., & Luterman, D., Baltimore, MD: York Press.Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Tricia See
    • 1
  • Cynthia J. Tifft
    • 2
  1. 1.University of CaliforniaSan FranciscoUSA
  2. 2.National Institutes of HealthBethesdaUSA

Personalised recommendations