Clinical Needs and Desires of Patients and Families Affected by Sex Chromosome Variations: Addressing Patient-Centered Care Amy A. Blumling, BSN, RN, Doctoral & PNP student Kristy Martin, PhD, CPNP-PC, PC, FAAN Sharron Close, PhD, MS, CPNP-PC, PC, FAAN Emory University School of Nursing Conflict of Interest Disclosure Conflict of Interest: None Amy Blumling Sharron Close; Kristy Martyn Objectives Explore patient clinical needs, preferences, & desires using a patientfamily point of view Report the findings of a patient survey conducted through a national advocacy association Discuss how to improve access & integration of care for patients Describe the role that pediatric endocrine nurses might play for improving care coordination for these patients 1
Background Sex chromosome variations (SCV) signs & symptoms: Physical Neurocognitive Psychosocial Patients report: Providers do not know clinical needs & desires of patients and families affected by SCVs Result left to navigate health care on their own Method Cross-sectional descriptive study using online surveys Surveys sent to 6,000 members of National Advocacy Association = AXYS Descriptive statistics analyze item data Descriptive content analysis open-ended questions Results Participants Clinical Needs n = 230 8 SCV diagnostic categories: XO XXY* XXX XYY XXXX XXYY XXXY XXXXY Behavioral Psychology 2
Results, continued Providers did not understand individual needs with SCVs Providers unlikely to make referrals that were important to patients Respondents desires for: support, provider education, help navigating insurance, education, and legal concerns If you could have access to a Multidisciplinary Clinic for X & Y Variations, please select the specialties that you would like to serve you 80.0% 70.0% 60.0% 50.0% 40.0% 30.0% 20.0% 10.0% 0.0% Pediatric Primary Care Adult Primary Care Developmental Pediatrics Neuro-psychology Educational psychology Behavioral Psychology Psychology Endocrinology Urology & Fertility Gynecology & Fertility Genetic Counseling Social Work Speech & Language Therapy Occupational Therapy Physical Therapy Other services not mentioned? Referring to the previous question, please rank those that are most important to you 14 12 10 8 6 4 2 0 Adult or Pediatric Primary Care Developmental Pediatrics Neuro-psychology Educational Psychology Behavioral Psychology General Psychology Psychiatry Endocrinology Urology & Fertility Gynecology & Fertility Genetic Counseling Social Work Speech and Language Therapy Occupational Therapy Physical Therapy 3
Please select from below as many issues that apply that lead to barriers for you or your family member receiving the care you need 90.0% 80.0% 70.0% 60.0% #1: Local clinicians not understanding the health care needs of X & Y variations 50.0% 40.0% 30.0% 20.0% 10.0% 0.0% Local clinicians not No access to a Restrictions due to Financial constraints Financial constraints Constraints due to understanding the multidisciplinary clinic insurance coverage associated with outof-network or out-of- associated with travel family responsibilities health care needs of near me X & Y variations pocket expenses Dream Big: Think about out-of of-the the-box ideas that might lead to better access and better care for you or your family member Answer Choices Response % Tele-health 71.2 Travel Clinics 67.1 Small Group Care 66.2 Clinical Tele-training 56.6 Legal Consult 50.2 Concierge Clinic Services 45.7 Other 23.3 Please explain any clinical need or other supportive need that you feel would benefit the person with X & Y variations and his or her family 4
Discussion Current SCV care disjointed & lacking clinical collaboration Need for improved access: Multidisciplinary care Integration of services via clinical collaboration Pediatric endocrine nurses are uniquely positioned to identify needs & assist in coordination of much-needed care Understand scope of issues associated with X &Y chromosome variations Anticipate complexity of needs Be knowledgeable about resources to assist families in finding help Acknowledgements Thank you! Survey participants AXYS PENS References Close, S., Fennoy, I., Smaldone, A., & Reame, N. (2015). Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. The Journal of Pediatrics, 167(3), 650-657. doi:10.1016/j.jpeds.2015.06.037. Tartaglia, N., Ayari, N., Howell, S., D'Epagnier, C., & Zeitler, P. (2011). 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatrica, 100(6), 851-860. doi:10.1111/j.1651-2227.2011.02235.x Tartaglia, N., Howell, S., Wilson, R., Janusz, J., Boada, R., Martin, S.,... Zeitler, P. (2015). The extraordinary Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy. Journal of Multidisciplinary Healthcare, 8, 323-334. doi:10.2147/jmdh.s80242 Visootsak, J., Ayari, N., Howell, S., Lazarus, J., & Tartaglia, N. (2013). Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences. American Journal of Medical Genetics. Part A, 161a(2), 268-272. doi:10.1002/ajmg.a.35709 5
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