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Response to Quality of Life Surveying: An Analysis of Patients with WiskottAldrich Syndrome Tara Bani-Hashemi MPH Candidate 2017 University of San Francisco School of Nursing and Health Professional Agenda Background - Wiskott-Aldrich Syndrome - PedsQL™ - The Wiskott-Aldrich Foundation Scope of Work - Personal Objectives - Agency Objectives Results Conclusions Policy Implications/Physician Responsibility What is Wiskott-Aldrich Syndrome? • Abnormal immune system function (immune deficiency) • Thrombocytopenia – decrease in platelets - Platelets help with clotting - WAS patients easily bruise and bleed after minor traumas • Abnormal/nonfunctional white blood cells - Increased presence/severity of infection • Immune System Malfunction (cancers) • Inflammatory disorders (eczema) Who has Wiskott-Aldrich Syndrome? • Males (X-linked disorder) • Females are usually healthy carriers Treatment / Management • HSCT (hematopoietic stem cell transplantation) at a young age of less than 5 years old - Donor type (GvHD risk) • Gene Therapy - avoid the graft rejection and GvHD barriers - gene would be corrected using viruses to integrate the desired gene back into the genome • Intravenous Ig (IVIG) with prophylactic antibiotics/penicillin Background – PedsQL™ • 23 Items in 4 Dimensions: 1. 2. 3. 4. Physical Emotional Social School/Work • Summary scores for physical health, psychosocial health, and overall QOL - Score 0-100 • Family Impact Module - Parent QoL - Family Function - Worry The Wiskott-Aldrich Foundation Mission: The Wiskott-Aldrich Foundation is dedicated to serving children with Wiskott-Aldrich Syndrome and their families worldwide by funding research and providing educational, financial and emotional support The Wiskott-Aldrich Foundation • Inform people of the disease, promote research, and provide support for WAS families • Collaborates with families, physicians, researchers, patients, and charities • www.wiskott.org - most current research - Registries - financial resources - support groups - summer camps - leading treatment institutions near them • Creates a community Scope of Work The primary goal of the project was to improve the quality of life for patients and families of patients diagnosed with Wiskott-Aldrich Syndrome through raising awareness of the effects of WAS and encouragement of questioning QoL through surveying. Personal Objectives • Research past QoL studies and effectiveness • Familiarize self with PedsQL™ • Understand scoring of QoL surveys • Maintain IRB consents and QoL surveys through UCSF IRB • Administer QoL surveys in various languages when needed • Administer QoL surveys to UCSF WAS patients at cross-sectional visits • Data entry of QoL results Agency Objectives • Improve patient’s quality of life (QoL) • Share the effects of WAS and treatment options on the QoL of patients with healthcare professionals and colleagues • Encourage the administration of QoL surveys regularly • Improve QoL surveying to best reflect patient and family sentiments • Use QoL as a tool to help families and physicians assess treatment options • Use QoL study results to impact other conditions outside of WAS on a global level PedsQL™ Scores of Patients with Selected Diseases No Identified Chronic Disease 83 Cardiac Disease 81 Diabetes 79 X-Linked Agammaglobulinemia 77 Wiskott-Aldrich Syndrome 76 Humoral PIDD 76 Chronic Graft-vs.-Host Disease 75 Obesity 75 End-Stage Renal Disease 70 Cancer 68 Chronic Granulomatous Disease 65 Cerebral Palsy 51 0 20 40 60 80 100 Preliminary and confidential data from The Wiskott-Aldrich Foundation PedsQL™ Scores by Domain 120 100 Patients Parents 80 60 40 20 0 Preliminary and confidential data from The Wiskott-Aldrich Foundation PedsQL™ Scores by Clinical Factors Preliminary and confidential data from The Wiskott-Aldrich Foundation Family Impact Scores in Selected Clinical Conditions Acquired Brain Injury 80.4 Disabled 75.1 Late preterm NICU 87.3 Late preterm non-NICU 92.2 Wiskott-Aldrich Syndrome 69 0 20 40 60 80 100 Preliminary and confidential data from The Wiskott-Aldrich Foundation Panepinto et al., PedsQL™ scores Panepinto, J. A., Hoffmann, R. G., & Pajewski, N. M. (2009). A psychometric evaluation of the PedsQL™ Family Impact Module in parents of children with sickle cell disease. Health and Quality of Life Outcomes, 7(1), 32. doi:10.1186/1477-7525-732 Conclusions • QOL scores in patients with WAS are decreased to a level that is considered to be clinically important • Parents and patients report similar QOL scores across domains - Mothers reported lower physical QoL • Psychosocial QOL scores are lower than physical QOL scores • QOL in WAS is similar to QOL in other PIDs and in chronic GvHD • QOL scores are significantly higher in patients who have had an hematopoietic cell transplant compared to patients who have not had a transplant Conclusions These groups are confronted with a rare condition that can be very isolating, and a community to understand their family function and perception of disease can ultimately improve quality of life and overall care of patient. Policy Implications / Physician Responsibility • QoL surveying addressing psychosocial/emotional components of care – first visit & annual • BMT - Protect sleep, pain control, emotional support, support after BMT • Incorporate QoL into disease management discussions - Evaluation patient/parent perception of patient QoL - Address parental worry • Establish Interdisciplinary PID Clinic - Collaboration between immunologist, hematologist, BMT, psychiatry, pediatrician, dermatologist Acknowledgements • Sumathi Iyengar, MD • Jim Varni, MD • Mort Cowan, MD • Wiskott-Aldrich Foundation • The PIDTC • The Primary Immune Deficiency Treatment Consortium (U54-AI082973) is part of Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS) • The PIDTC is funded through collaboration between NCATS-ORDR, and the National Institute of Allergy and Infectious Diseases • UCSF Benioff Children’s Hospital • Immune Deficiency Foundation Questions? References Aspesberro, F., Fesinmeyer, M.D., Zhou, C., Zimmerman, J.J., & Mangione-Smith, R. (2016). Construct validity and responsiveness of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales and Infant Scales in the PICU. Pediatric Critical Care Medicine, 17(6), e272-e279. Bosticardo M et al. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood. 2009; 113: 6288-6295. Boztug K et al. Stem-cell gene therapy for the Wiskott-Aldrich Syndrome. New Engl J Med. 2010; 363: 1918-1927. Buchbinder, D., Nugent, D., & Fillipovich, A. (2014). Wiskott–Aldrich syndrome: diagnosis, current management, and emerging treatments. The Application of Clinical Genetics, 55-64. doi:10.2147/tacg.s58444 Desai, A. D., Zhou, C., Stanford, S., Haaland, W., Varni, J.W., & Mangione-Smith, R.M. (2014). Validity and responsiveness of the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales in the pediatric inpatient setting. 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(in press). Health-related quality of life in children with chronic immune thrombocytopenia in China. Health and Quality of Life Outcomes.