Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

American Journal of Medical Genetics, Part A

Volumn 140, Issue 20, 2006, Pages 2170-2179

  Hinkson, Deborah A R ^a   Atenafu, Eshetu ^a   Kennedy, Shelley J ^a   Vohra, Sunita ^a,b   Garg, Deepak ^a   Levin, Alex V ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

Cornelia de Lange syndrome; Health complications; Information sources

Indexed keywords

ARTICLE; CAREGIVER; CHILD; DE LANGE SYNDROME; FEMALE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MEDICAL INFORMATION; PARENT; PRIORITY JOURNAL; QUESTIONNAIRE; SATISFACTION; SELF REPORT; SYSTEMIC DISEASE;

ADULT; CALIFORNIA; CAREGIVERS; CONSUMER SATISFACTION; DE LANGE SYNDROME; FEMALE; HUMANS; INFORMATION DISSEMINATION; MALE; ONTARIO; QUESTIONNAIRES;

EID: 33749486798     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31404     Document Type: Article

References (42)

1. American Society of Human Genetics. 1975. American Society of Human Genetics ad hoc committee on genetic counseling. Am J Hum Genet 27:240-242.
2. Baine S, Rosenbaum P, King S. 1995. Chronic childhood illnesses: What aspects of caregiving do parents value? Child Care Health Dev 21:291-304.
3. Benson M. 2002. Cornelia de Lange syndrome: A case study. Neonatal Netw 21:7-13.
4. Berney TP, Ireland M, Burn J. 1999. Behavioral phenotype of Cornelia de Lange Syndrome. Arch Dis Child 81:333-336.
5. Bernhardt BA, Biesecker BB, Mastromarino CL. 2000. Goals, benefits and Outcomes of genetic counseling: Client and genetic counselor assessment. Am J Med Genet 94:189-197.
6. Bhuiyan Z, Klein M, Hammond P, Mannens MM, Van Haeringen A, Van Berckelaer-Onnes I, Hennekam RC. 2005. Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience. J Med Genet Oct 19 [Epub ahead of print: http://jmg.bmjjournals.com/cgi/rapidpdf/jmg.2005. 038240v1].
7. Biesecker BB, Peters KF. 2001. Process studies in genetic counseling: Peering into the black box. Am J Med Genet 106:191-198.
8. Black RB, Weiss JO. 1989. Genetic support groups in the delivery of comprehensive genetic services. Am J Hum Genet 45:647-654.
9. Cadman D, Rosenbaum P, Boyle M, Offord DR. 1991. Children with chronic illness: Family and parent demographic and psychosocial adjustment. Pediatrics 87:884-889.
10. Carppinello B, Piras A, Pariante CM, Carta MG. 1995. Psychiatric morbidity and family burden among parents of disabled children. Psychiatr Serv 46:940-942.
11. CdLS Foundation, Inc., Avon, Connecticut. 2001. Facing the challenges: A parent's guide to Cornelia de Lange Syndrome.
12. Cope CD, Lyons AC, Donovan V, Rylance M, Kilby MD. 2003. Providing letters and audiotapes to supplement a prenatal diagnostic consultation: Effects on later distress and recall. Prenat Diagn 23:1060-1067.
13. Costa T, Scriver CR, Childs B. 1985. The effect of mendelian disease on human health: A measurement. Am J Med Genet 21:231-242.
14. Cunningham CC, Sloper T. 1977. Parents of Down's syndrome babies: Their early needs. Child Care Health Dev 3:325-347.
15. De Lange C. 1933. Surun type nouveau de degenerescence (Typus Amstelodamensis). Arch Med Enfants 36:713-719.
16. Firth MA. 1983. Diagnosis of Duchenne muscular dystrophy: Experiences of parents and sufferers. Br Med J 286:700-701.
17. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. 2004. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75:610-623.
18. Green JM, Murton FE. 1996. Diagnosis of Duchenne muscular dystrophy: Parents' experiences and satisfaction. Child Care Health Dev 22:113-128.
19. Hall JG, Powers EK, McIlvaine RT, Ean VH. 1978. The frequency and financial burden of genetic disease in a pediatric hospital. Am J Med Genet 1:417-436.
20. Hallowell N, Murton F. 1998. The value of written summaries of genetic consultations. Patient Educ Couns 35:27-34.
21. Hayes A, Costa T, Scriver CR, Childs B. 1985. The effect of Mendelian disease on human health. II: Response to treatment. Am J Med Genet 21:243-245.
22. Hollingshead AB. 1975. Four factor index of social status. New Haven, CT: Yale University Department of Sociology.
23. Hunfeld JAM, Leurs A, De Jong M, Oberstein ML, Tibben A, Wladimiroff JW, Wildschut HIJ, Passchier J. 1999. Prenatal consultation after a fetal anomaly scan: Videotaped exploration of physician's attitude and patient satisfaction. Prenat Diagn 19:1043-1047.
24. Jones KL. 2006. Brachmann-de Lange syndrome. In: Hummel T, Davis K, editors. Smith's Recognizable Patterns of Human Malformation, 6th edn. Pennsylvania: Elsevier Saunders. p 82-83.
25. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-635.
26. Levenson PM, Pfefferbaum B, Silberberg Y, Copeland DR. 1981. Sources of information about cancer patients as perceived by adolescent patients, parents and physicians. Patient Couns Health Educ 3:71-76.
27. Levin AV, Seidman DJ, Nelson LB, Jackson LG. 1990. Ophthalmologic findings in the Cornelia De Lange syndrome. J Pediatr Ophthalmol Strabismus 27:94-102.
28. Mehta AV, Ambalavanan SK. 1997. Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome. Am J Med Genet 71:434-435.
29. Mullins LL, Lynch J, Orten J, Youll LK. 1991. Developing a program to assist Turner's Syndrome patients and families. Soc Work Health Care 16:69-79.
30. National Centre for Educational Statistics (NCES). 2003. Digest of Education Statistics.
31. Pain H. 1999. Coping with a child with disabilities from the parents' perspective: The function of information. Child Care Health Dev 25:299-312.
32. Preus M, Rex AP. 1983. Definition and diagnosis of the Brachmann-De Lange Syndrome. Am J Med Genet 16:301-312.
33. Sharp MC, Strauss RP, Lorch SC. 1992. Communicating medical bad news: Parents' experiences and preferences. J Pediatrics 121:539-546.
34. Skotko B. 2005. Mothers of children with Down syndrome reflect on their postnatal support. Pediatrics 115:64-77.
35. Somer M, Mustonen H, Norio R. 1988. Evaluation of genetic counseling: Recall of information, post-counseling reproduction and attitude of the counselees. Clinical Genetics 34:352-365.
36. Sommer A. 1993. Occurrence of the Sandifer complex in the Brachmann-de Lange Syndrome. Am J Med Genet 47:1026-1028.
37. Streiner D, Norman G. 2003. Health Measurement scales: A practical guide to their development and use. New York: Oxford University Press. 283 p.
38. Tetzlaff L. 1997. Consumer informatics in chronic illness. J Am Med Inform Assoc 4:285-300.
39. Tsukahara M. 1998. Brachmann-de Lange syndrome and congenital heart disease. Am J Med Genet 75:441-442.
40. Van den Borne HW, Van Hooren RH, Van Gestel M, Reinmeijer P, Fryns JP, Curfs LMG. 1999. Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi Syndrome and Angelman Syndrome. Patient Education and Counseling 38:205-216.
41. Woodward CA. 1980. Guide to questionnaire construction and question writing. Ottawa: Canadian Public Health Association. 26 p.
42. Zorzi G, Thurman SK, Kistenmacher ML. 1980. Importance and adequacy of genetic counseling information: Impressions of parents with Down's syndrome Children. Ment Retard 5:255-257.