Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity
Tóm tắt
Hematopoietic stem cell transplant (HSCT) is well established as a corrective treatment for many inborn errors of immunity (IEIs) presenting in childhood. Due to improved techniques, more transplants are undertaken and patients are living longer. However, long-term complications can significantly affect future health and quality of life. Previous research has focused on short-term medical outcomes and little is known about health or psychosocial outcomes in adulthood. This project aimed to ascertain the long-term social and psychological outcomes for adults who underwent HSCT for IEI during childhood. Adult patients, who had all undergone HSCT for IEI during childhood at two specialist immunology services at least 5 years previously, were invited to participate in the study. Questionnaires and practical tasks assessed their current functioning and circumstances. Information was also gathered from medical notes. Data was compared with population norms and a control group of participant-nominated siblings or friends. Eighty-three patients and 46 matched controls participated in the study. Patients reported significantly better physical health-related quality of life than the general population norm, but significantly worse than matched controls. Patient’s self-reported physical health status and the perceived impact of their physical health on everyday life were worse than matched controls and patients reported higher levels of anxiety and lower mood than the general population. For those where their IEI diagnosis was not associated with a learning disability, cognitive function was generally within the normal range. Patients who have had a HSCT in childhood report mixed psychosocial outcomes in adulthood. More research is needed to establish screening protocols and targeted interventions to maximize holistic outcomes. Screening for holistic needs and common mental health difficulties should be part of routine follow-up. Information should be provided to patients and families in order to support decision-making regarding progression to transplant and the early identification of any difficulties.
Tài liệu tham khảo
Fischer A, Cavazzana-Calvo M, de Saint BG, DeVillartay JP, Di Santo JP, Hivroz C, et al. Naturally occurring primary deficiencies of the immune system. Annual Rev Immunol. 1997;1997(15):93–124.
Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, et al. Primary immunodeficiency diseases worldwide: more common than generally though. J Allergy Clin Immunol. 2013;33:1–7.
Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020 Jan;40(1):66-81. doi: 10.1007/s10875-020-00758-x. Epub 2020 Feb 11. PMID: 32048120; PMCID: PMC7082388.
BSBMTCT annual activity reports. Available from https://bsbmtct.org/activity/2019/. Accessed October 14, 21.
Passweg JR, Baldomero H, Chabannon C, Basak GW, Corbacioglu S, Duarte R, et al. European Society for Blood and Marrow Transplantation (EBMT). The EBMT activity survey on hematopoietic-cell transplantation and cellular therapy 2018: CAR-T’s come into focus. Bone Marrow Transplant 2020 Aug;55(8):1604-1613. doi: 10.1038/s41409-020-0826-4. Epub 2020 Feb 17. PMID: 32066864; PMCID: PMC7391287
Eapen M, Ahn KW, Orchard PJ, Cowan MJ, Davies SM, Fasth A, et al. Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism. Biol Blood Marrow Transplant. 2012;18(9):1438–45.
Abd Hamid IJ, Slatter MA, McKendrick F, Pearce MS, Gennery AR. Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report. Blood. 2017;129(15):2198–201.
Dvorak CC, Hassan A, Slatter MA, Hönig M, Lankester AC, Buckley RH, et al. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. J Allergy Clin Immunol. 2014;134(4):935–43.e15.
Haddad E, Logan BR, Griffith LM, Buckley RH, Parrott RE, Prockop SE, et al. SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery. Blood. 2018;132(17):1737–49.
Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014;371(5):434–46.
Schuetz C, Neven B, Dvorak CC, Leroy S, Ege MJ, Pannicke U, et al. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood. 2014;123(2):281–9.
Hönig M, Albert MH, Schulz A, Sparber-Sauer M, Schütz C, Belohradsky B, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007;109(8):3595–602.
Mazzolari E, Forino C, Guerci S, Imberti L, Lanfranchi A, Porta F, et al. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J Allergy Clin Immunol. 2007;120(4):892–9.
Patel NC, Chinen J, Rosenbaltt HM, Hanson IC, Brown BS, Paul ME, et al. Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb. J Allergy Clin Immunol. 2008;122:1185–93.
Seger RA, Gungor T, Belohradsky BH, Blanche S, Bordigoni P, Bartolomeo PD, et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. Blood. 2002;100:4344–50.
Soncini E, Slatter MA, Jones LBKR, Hughes S, Hodges S, Flood TJ, et al. Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronice granulomatous disease with good long-term outcome and growth. Br J Haematology. 2009;145:73–83.
Heimall J, Buckley RH, Puck J, Fleisher TA, Gennery AR, Haddad E, et al. Recommendations for screening and management of late effects in patients with severe combined immunodeficiency after allogenic hematopoietic cell transplantation: a consensus statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. Biol Blood Marrow Transplant. 2017 Aug;23(8):1229-1240. doi: 10.1016/j.bbmt.2017.04.026. Epub 2017 May 4. PMID: 28479164; PMCID: PMC6015789.
Nelson AS, Vajdic CM, Ashton LJ, Le Marsney RE, Nivison-Smith I, Wilcox L, et al. CAST investigators. Incident cancers and late mortality in Australian children treated by allogeneic stem cell transplantation for non-malignant diseases. Pediatr Blood Cancer 2017 Jan;64(1):197-202. doi: https://doi.org/10.1002/pbc.26219. Epub 2016 Sep 26.
Duell T, van Lint MT, Ljungman P, Tichelli A, Socie G, Apperley JF, et al. Health and functional status of long-term survivors of bone marrow transplantation. Ann Inter Med. 1997;126:184–92.
Dvorak CC, Cownan MJ, Logan BR, Notarangelo LD, Griffiths LM, Puck JM, et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the Primary Immune Deficiency Treatment Consortium Prospective Study 6901. J Clin Immunol. 2013;33:1156–64.
Patel NC, Chinen J, Rosenblatt HM, Hanson IC, Krance RA, Paul ME, et al. Outcome of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2009;124:1062–9.
Tewari P, Martin PL, Mendizabal A, Parikh SH, Page KM, Driscoll TA, et al. Myeloablative transplantation using either cord blood or bone marrow leads to immune recovery, high long-term donor chimerism and excellent survival in Chronic Granulomatous Disease. Biol Blood Marrow Transplant. 2012;18:1368–77.
Cole T, McKendrick F, Titman P, Cant AJ, Pearce MS, Cale CM, et al. Health related quality of life and emotional health in children with chronic granulomatous disease: a comparison with those managed conservatively with those that have undergone Haematopoietic Stem Cell Transplant. J Clin Immunol. 2013;33:8–13.
Nuss SL, Wilson ME. Health-related quality of life following hematopoietic stem cell transplant during childhood. J Pediatr Oncol Nurs. 2007;24:106–15.
Sanders JE, Hoffmeister PA, Storer BE, Appelbaum FR, Storb RF, Syrjala KL. The quality of life of adult survivors of childhood hematopoietic cell transplant. Bone Marrow Transplant. 2010;45:746–54.
Skucek E, Butler S, Gaspar HB, Titman P. Social outcome of children treated by haematopoietic cell transplant for congenital immunodeficiency. Bone Marrow Transplant. 2011;46:1314–20.
Titman P, Pink E, Skucek E, O’Hanlon KCT, Cole TH, Gaspar J, et al. Cognitive and behavioural abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood. 2008;112:3907–13.
Abd Hamid IJ, Slatter MA, McKendrick F, Pearce MS, Gennery AR. Long-term health outcome and quality of life post-HSCT for IL7Ra-, Artemis-, RAG1- and RAG2-deficient severe combined immunodeficiency: a single centre report. J Clin Immunol. 2018;38(6):727–32.
Phipps S, Rai S, Leung WH, Lensing S, Dunavant M. Cognitive and academic consequences of stem-cell transplantation in children. J Clin Oncol. 2008;26:2027–33.
Andrykowski MA, Carpenter JS, Greiner CB, Altmaier EM, Burish TG, Antin JH, et al. Energy level and sleep quality following bone marrow transplantation. Bone Marrow Transplant. 1997;20:669–79.
Bush NE, Haberman M, Donaldson G, Sullivan KM. Quality of life of 125 adults surviving 6-18 years after bone marrow transplantation. Soc Sci Med. 1995;40:479–90.
Heinonen H, Volin L, Uutela A, Zevon M, Barrick C, Ruutu T. Quality of life: gender-associated differences in the quality of life after allogeneic BMT. Bone Marrow Transplant. 2001;28:503–9.
Syrjala KL, Langer SL, Abrams JR, Storer B, Sanders JE, Flowers MED, et al. Recovery and long-term function after hematopoietic cell transplantation for leukemia or lymphoma. J Am Med Assoc. 2004;291:2335–43.
Syrjala KL, Langer SL, Abrams JR, Storer B, Martin PJ. Late effects of hematopoietic cell transplantation among 10-year adult survivors compared with case-matched controls. J Clin Oncol. 2005;23:6596–606.
Kentish R, Mance J. Psychological effects of deafness and hearing impairment. In: Newton VE, editor. Paediatr Audiol Medicine. 2nd ed. London: Wiley; 2008.
Moss T, Rosser B. Psychosocial adjustment to visible difference. The Psychologist. 2008;21:492–5.
Depression in adults with a chronic physical health problem: treatment and management. Natl Inst Health Care Excell. 2009.
Assessment and treatment for people with fertility problems. National Institute for Health and Care Excellence. 2013.
Nyman SR, Gosney MA, Victor CR. Psychosocial impact of visual impairment in working-age adults. Br J Ophthalmology. 2010;94:1427–31.
McAllister M, Davies L, Payne K, Nicholls S, Donnai D, MacLeod R. The emotional effects of genetic diseases: implications for clinical genetics. Am J Med Genetics 2007; Part A; 143A: 2651-2661
The National Statistics Socio-economic classification (NS-SEC) [Internet], Office for National Statistics 2020. Available from: https://www.ons.gov.uk/methodology/classificationsandstandards/otherclassifications/thenationalstatisticssocioeconomicclassificationnssecrebasedonsoc2010. Accessed July 31, 2020.
Ware JE, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care. 1992;30:473–83.
Spitzer RL, Kroenke K, Williams JB, Löwe B. A brief measure for assessing generalized anxiety disorder: the GAD-7. Arch Intern Medicine. 2006;166:1092–7.
Kroenke K, Spitzer RL, Williams JB. The PHQ-9: validity of a brief depression severity measure. J Gen Intern Medicine. 2001;16:606–13.
Wechsler D. Wechsler Adult Intelligence Scale–Fourth Edition. Pearson; San Antonio, TX. 2008.
Sheridan CL, Mulhern M, Martin D. Validation of a self-report measure of somatic health. Psychol Rep. 1998;82:697–87.
Mundt JC, Marks IM, Shear MK, Greist JM. The Work and Social Adjustment Scale: a simple measure of impairment in functioning. Br J Psychiatry. 2002;180:461–4.
Ware JE User’s manual for the SF-36v2 Health Survey, Second Edition. 2007; 3-12.
Löwe B, Decker O, Müller S, Brähler E, Schellberg D, Herzog W, Herzberg PY. Validation and standardization of the Generalized Anxiety Disorder Screener (GAD-7) in the general population. Med Care. 2008;46(3):266–74 http://www.jstor.org/stable/40221654.
The Improving Access to Psychological Therapies Manual. National Collaborating Centre for Mental Health. 2019.
Kocalevent RD, Hinz A, Brähler E. Standardization of the depression screener patient health questionnaire (PHQ-9) in the general population. Gen Hosp Psychiatry. 2013 Sep-Oct;35(5):551-5. doi: https://doi.org/10.1016/j.genhosppsych.2013.04.006. Epub 2013 May 10.
Day JW, Elfeky R, Nicholson B, Goodman R, Pearce R, Fox TA, Worth A, Booth C, Veys P, Carpenter B, Hough R, Gaspar HB, Titman P, Ridout, D, Workman S, Hernandes F. Sandford K, Laurence A, Campbell M, Burns SO, Burns SO, Morris EC (2022) Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood. J Clin Immunol. https://doi.org/10.1007/s10875-022-01278-6
In the face of fear. Mental Health Foundation. 2009.
Booker K, Bansal A, Haeney M, Bansal, Vieira A. Identifying risk for sub-optimal health-related quality of life and adjustment to illness in adults with primary antibody deficiency syndrome (PADS): Summary Report for the PiA 2007.
Hanson B, Johnstone E, Dorais J, et al. Female infertility, infertility-associated diagnoses, and comorbidities: a review. J Assist Reprod Genet. 2017;34:167–77. https://doi.org/10.1007/s10815-016-0836-8.
Nathan PC, Nachman A, Sutradhar R, et al. Adverse mental health outcomes in a population-based cohort of survivors of childhood cancer. Cancer. 2018;124:2045–57.
Generalised anxiety disorder and panic disorder in adults: management. Natl Inst Health Care Excell. 2019
Holt-Lunstad J, Smith TB, Baker M, Harris T, Stephenson D. Loneliness and social isolation as risk factor mortality: a meta-analytic review. Perspect Psychol Sci. 2015;10:227–37.
Valtorta NK, Kanaan M, Gilbody S, Ronzi S, Hanratty B. Loneliness and social isolation as risk factors for coronary heart disease and stroke: systematic review and meta-analysis of longitudinal observational studies. Heart. 2016 Jul 1;102(13):1009-16. doi: 10.1136/heartjnl-2015-308790. Epub 2016 Apr 18. PMID: 27091846; PMCID: PMC4941172.
Mushtaq R, Shoib S, Shah T, Mushtaq S. Relationship between loneliness, psychiatric disorders and physical health? A review on the psychological aspects of loneliness. J Clin Diagn Res. 2014;8:WE01-04.
Packman W, Gong K, VanZutphen K, Shaffer T, Crittenden M. Psychosocial adjustment of adolescent siblings of hematopoietic stem cell transplant patients. J Pediatr Oncol Nurs. 2004;21:233–48.