Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome
-
Jessica E. King
,
Jenna Plamondon
Abstract
Background: Delayed discussion about infertility with individuals affected by Turner syndrome (TS) has been found to result in psychological and social harm. The aim of this study was to identify barriers experienced when discussing infertility and determine resource types that may facilitate this conversation.
Methods: An electronic survey, given to caregivers of girls with TS diagnosed at <5 years.
Results and conclusions: Fifty percent of parents surveyed had spoken to their daughter about their possible infertility. Parents who had not yet discussed infertility with their daughter had younger daughters and reported more barriers in having the conversation. Although most individuals did not use resources to facilitate the conversation, they did express interest in additional resources.
Acknowledgments
Toni Pollin, PhD, for data analysis, Danielle Moore, PhD, TSF, TSSUS, and Angela Lin, MD at MGHCTSC, for facilitating recruitment.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Financial support: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Morgan T. Turner syndrome: diagnosis and management. Am Fam Physician 2007;76:405–40.Search in Google Scholar
2. Sheaffer AT, Lange W, Bondy CA. Sexual function in women with turner syndrome. J Womens Health 2008;17:27–33.10.1089/jwh.2007.0488Search in Google Scholar
3. Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, et al. Turner syndrome: four challenges across the lifespan. Am J Med Genet 2005;139A:57–66.10.1002/ajmg.a.30911Search in Google Scholar
4. Sutton EJ, Young J, McInerney-Leo A, Bondy CA, Gollust SE, et al. Truth-telling and turner syndrome: the importance of diagnostic disclosure. J Pediatr 2006;148:102–7.10.1016/j.jpeds.2005.08.022Search in Google Scholar
5. Bradbury AR, Patrick-Miller L, Egleston BL, Olopade O, Daly MB, et al. When parents disclose BRCA1/2 test results: their communication and perceptions of offspring response. Cancer 2012;118:3417–25.10.1002/cncr.26471Search in Google Scholar
6. de Vinck-Baroody O, Weitzman C, Vibbert M, Augustyn M. Disclosure of diagnosis: To tell or not to tell? J Dev Behav Pedatr 2012;33:441–3.10.1097/DBP.0b013e318258bae6Search in Google Scholar
7. Koopman HM, Baars RM, Chaplin J, Zwinderman KH. Illness through the eyes of the child: the development of children’s understanding of the cause of illness. Patient Educ Couns 2003;55:363–70.10.1016/j.pec.2004.02.020Search in Google Scholar
8. Havermans T, Abbott J, Colpaert K, Boeck KD. Communication of information about reproductive and sexual health in cystic fibrosis. Patients, parents, and caregivers’ experience. J Cyst Fibros 2011;10:221–7.10.1016/j.jcf.2011.04.001Search in Google Scholar
9. McConkie-Rosell A, Del Giorno J, Heise EM. Communication of genetic risk information to daughters in families with fragile X syndrome: the parent’s perspective. J Genet Counsel 2011;20:58–69.10.1007/s10897-010-9326-9Search in Google Scholar
10. Patenaue AF, DeMarco TA, Peshkin BN, Valdimarsdottir H, Garber JE, et al. Talking to children about maternal BRCA1/2 genetic test results: a qualitative study of paternal perceptions and advice. J Genet Counsel 2013;22:303–14.10.1007/s10897-012-9549-zSearch in Google Scholar
11. Sawyer SM, Tully M-A, Colin AA. Reproductive and sexual health in males with cystic fibrosis: a case for health professional education and training. J Adolescent Health 2001;28:36–40.10.1016/S1054-139X(00)00172-5Search in Google Scholar
12. Frayman KB, Cerritellia B, Wilson J, Sawyer SM. Reproductive and sexual health in boys with cystic fibrosis: what do parents know and say? Pediatr Pulm 2008;43:1107–16.10.1002/ppul.20911Search in Google Scholar PubMed
13. Withers AL. Management issues for adolescents with cystic fibrosis. Pulm Med 2012;2012:134132.10.1155/2012/134132Search in Google Scholar PubMed PubMed Central
14. McConkie-Rosell A, Heise EM, Spiridigliozzi GA. Genetic risk communication: experience of adolescent girls and young women from families with fragile X syndrome. J Genet Counsel 2009;18:313–25.10.1007/s10897-009-9215-2Search in Google Scholar PubMed PubMed Central
15. Metcalfe A, Plumridge G, Coad J, Shanks A, Gill P. Parents’ and children’s communication about genetic risk: a qualitative study, learning from families’ experiences. Eur J Hum Genet 2011;19:640–6.10.1038/ejhg.2010.258Search in Google Scholar PubMed PubMed Central
16. Plumridge G, Metcalfe A, Coad J, Gill P. The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information. Health Expect 2010;15:255–66.10.1111/j.1369-7625.2011.00663.xSearch in Google Scholar PubMed PubMed Central
17. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child 2006;91:554–63.10.1136/adc.2006.098319Search in Google Scholar PubMed PubMed Central
18. Wehbe RM, Spiridigliozzi GA, Heise EM, Dawson DV, McConkie-Rosell A. When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families. Am J Hum Genet Part A 2010;149A:1190–9.10.1002/ajmg.a.32840Search in Google Scholar PubMed PubMed Central
19. Hullmann SE, Fedele DA, Wolfe-Christensen C, Mullins LL, Wisniewski AB. Differences in adjustment by child developmental stage among caregivers of children with disorders of sex development. Int J Pediatr Endocrinol 2011;2011:16.10.1186/1687-9856-2011-16Search in Google Scholar PubMed PubMed Central
20. Herlihy AS, Gillam L, Halliday J, McLachlan R. Postnatal screening for Klinefelter syndrome: is there a rationale? Acta Paediatrica 2010;100:923–33.10.1111/j.1651-2227.2011.02151.xSearch in Google Scholar PubMed
21. Negreiros LP, Bolina ER, Guimarães MM. Pubertal development profile in patients with Turner syndrome. J Pediatr Endocrinol Metab 2014;27:845–9.Search in Google Scholar
22. Nadeem M, Roche EF. Health-related quality of life in Turner syndrome and the influence of key features. J Pediatr Endocrinol Metab 2014;27:283–9.10.1515/jpem-2013-0333Search in Google Scholar PubMed
23. Ulph F, Leong J, Glazebrook C, Townsend E. A qualitative study exploring genetic counsellors’ experiences of counselling children. Euro J Hum Genet 2010;18:1090–4.10.1038/ejhg.2010.86Search in Google Scholar PubMed PubMed Central
24. Vorvick LJ, Zieve D. Choosing effective patient education materials. Medline Plus 2012. Available at: http://www.nlm.nih.gov/medlineplus/ency/patientinstructions/000455.htm.Search in Google Scholar
25. Pasterski V, Mastroyannopoulou K, Wright D, Zucker KJ, Hughers IA. Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development. Arch Sex Behav 2014:43:369–75.10.1007/s10508-013-0196-8Search in Google Scholar PubMed
Supplemental Material:
The online version of this article (DOI: 10.1515/jpem-2015-0135) offers supplementary material, available to authorized users.
©2016 by De Gruyter
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- MINI REVIEW
- Idiopathic infantile hypercalcemia: case report and review of the literature
- ORIGINAL ARTICLES
- Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
- Effect of auditory guided imagery on glucose levels and on glycemic control in children with type 1 diabetes mellitus
- Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children
- Use of the triglyceride to HDL cholesterol ratio for assessing insulin sensitivity in overweight and obese children in rural Appalachia
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- Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
- Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status
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- Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant
- Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome
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