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1 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
2 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 = SCV diagnostic categories: XO XXY* XXX XYY XXXX XXYY XXXY XXXXY Behavioral Psychology 2
3 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 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
4 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
5 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), doi: /j.jpeds 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), doi: /j 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, doi: /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), doi: /ajmg.a
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