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REVIEW

Neurofibromatosis Type 1 (NF1): Addressing the Transition from Pediatric to Adult Care

ORCID Icon, , &
Pages 19-32 | Received 04 Oct 2022, Accepted 19 Jan 2023, Published online: 09 Feb 2023

References

  • Blum RW, Garell D, Hodgman CH, et al. Transition from child-centered to adult health-care systems for adolescents with chronic conditions. A position paper of the Society for Adolescent Medicine. J Adolesc Health. 1993;14(7):570–576. doi:10.1016/1054-139x(93)90143-d
  • Sandquist M, Davenport T, Monaco J, et al. The transition to adulthood for youth living with rare diseases. Children. 2022;9(5):710. doi:10.3390/children9050710
  • Berens JC, Jan S, Szalda D, Hanna CM. Young adults with chronic illness: how can we improve transitions to adult care? Pediatrics. 2017;139(5). doi:10.1542/peds.2017-0410
  • Fair C, Cuttance J, Sharma N, et al. International and interdisciplinary identification of health care transition outcomes. JAMA Pediatr. 2016;170(3):205–211. doi:10.1001/jamapediatrics.2015.3168
  • White P, Schmidt A, Shorr J, Ilango S, Beck D, McManus M Six Core Elements of Health Care Transition™ Vol. 3.0. Washington, DC: Got Transition®, The National Alliance to Advance Adolescent Health; July 2020.
  • Callahan ST, Cooper WO. Continuity of health insurance coverage among young adults with disabilities. Pediatrics. 2007;119(6):1175–1180. doi:10.1542/peds.2006-1881
  • Lotstein DS, Seid M, Klingensmith G, et al. Transition from pediatric to adult care for youth diagnosed with type 1 diabetes in adolescence. Pediatrics. 2013;131:e1062–e1070. doi:10.1542/peds.2012-1450
  • Rosen DS, Blum RW, Britto M, Sawyer SM, Siegel DM. Transition to adult health care for adolescents and young adults with chronic conditions. J Adolesc Health. 2003;33(4):309–311. doi:10.1016/S1054-139X(03)00208-8
  • Sawicki GS, Whitworth R, Gunn L, Butterfield R, Lukens-Bull K, Wood D. Receipt of health care transition counseling in the national survey of adult transition and health. Pediatrics. 2011;128(3):e521–e529. doi:10.1542/peds.2010-3017
  • Quinn CT, Rogers ZR, McCavit TL, Buchanan GR. Improved survival of children and adolescents with sickle cell disease. Blood. 2010;115(17):3447–3452. doi:10.1182/blood-2009-07-233700
  • Wood DL, Sawicki GS, Miller MD, et al. The Transition Readiness Assessment Questionnaire (TRAQ): its factor structure, reliability, and validity. Acad Pediatr. 2014;14(4):415–422. doi:10.1016/j.acap.2014.03.008
  • Biggs EE, Carter EW. Quality of life for transition-age youth with autism or intellectual disability. J Autism Dev Disord. 2016;46(1):190–204. doi:10.1007/s10803-015-2563-x
  • Cotts TB. Transition of care in congenital disease: allaying fears for patients and specialists. Prog Cardiovasc Dis. 2018;61(3–4):282–286. doi:10.1016/j.pcad.2018.07.016
  • Essaddam L, Kallali W, Jemel M, et al. Implementation of effective transition from pediatric to adult diabetes care: epidemiological and clinical characteristics-A pioneering experience in North Africa. Acta Diabetol. 2018;55(11):1163–1169. doi:10.1007/s00592-018-1196-x
  • Walter M, Kamphuis S, van Pelt P, de Vroed A, Hazes JMW. Successful implementation of a clinical transition pathway for adolescents with juvenile-onset rheumatic and musculoskeletal diseases. Pediatr Rheumatol Online J. 2018;16(1):50. doi:10.1186/s12969-018-0268-3
  • Oates EC, Payne JM, Foster SL, Clarke NF, North KN. Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge. Am J Med Genet A. 2013;161A(4):659–666. doi:10.1002/ajmg.a.35840
  • Lausdahl S, Handrup MM, Rubak SL, Jensen MD, Ejerskov C. Transition to adult care of young patients with neurofibromatosis type 1 and cognitive deficits: a single-centre study. Orphanet J Rare Dis. 2022;17:208. doi:10.1186/s13023-022-02356-z
  • Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet Part A. 2010;152A:327–332. doi:10.1002/ajmg.a.33139
  • Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141(1):71–74. doi:10.1001/archderm.141.1.71
  • Lehtonen A, Howie E, Trump D, Huson SM. Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence. Dev Med Child Neurol. 2013;55(2):111–125. doi:10.1111/j.1469-8749.2012.04399.x
  • Miller DT, Freedenberg D, Schorry E, et al. Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019;143(5):e20190660. doi:10.1542/peds.2019-0660
  • Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(7):671–682. doi:10.1038/gim.2018.28
  • Radtke HB, Bergner AL, Goetsch AL, McGowan C, Panzer K, Cannon A. Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis-practice resource of the national society of genetic counselors. J Genet Couns. 2020;29(5):692–714. doi:10.1002/jgc4.1303
  • Goetsch Weisman A, Haws T, Lee J, Lewis AM, Srdanovic N, Radtke HB. Transition readiness assessment in adolescents and young adults with neurofibromatosis type 1 (NF1). Compr Child Adolesc Nurs. 2020;1–17. doi:10.1080/24694193.2020.1806402
  • Davidson LA. Transition of Health Care for Adolescent Patients with Neurofibromatosis Type 1: Parent Perspectives [Unpublished master’s thesis]. University of South Carolina; 2010. Available from: https://scholarcommons.sc.edu/etd/165. Accessed January 20, 2023.
  • Rietman AB, van Helden H, Both PH, et al. Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am J Med Genet A. 2018;176(5):1150–1160. doi:10.1002/ajmg.a.38680
  • Page PZ, Page GP, Ecosse E, Korf BR, Leplege A, Wolkenstein P. Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases. Am J Med Genet A. 2006;140(18):1893–1898. doi:10.1002/ajmg.a.31422
  • Kodra Y, Giustini S, Divona L, et al. Health-related quality of life in patients with neurofibromatosis type 1. Dermatology. 2009;218:215–220. doi:10.1159/000187594
  • Wolkenstein P, Rodriguez D, Ferkal S, et al. Impact of neurofibromatosis 1 upon quality of life in childhood: a cross-sectional study of 79 cases. Br J Dermatol. 2009;160:844–848. doi:10.1111/j.1365-2133.2008.08949.x
  • Vranceanu AM, Merker VL, Park E, Plotkin SR. Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature. J Neurooncol. 2013;114(3):257–262. doi:10.1007/s11060-013-1195-2
  • Cohen JS, Levy HP, Sloan J, Dariotis J, Biesecker BB. Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life. Clin Genet. 2015;88(5):425–430. doi:10.1111/cge.12551
  • Cipolletta S, Spina G, Spoto A. Psychosocial functioning, self-image, and quality of life in children and adolescents with neurofibromatosis type 1. Child Care Health Dev. 2018;44(2):260–268. doi:10.1111/cch.12496
  • Fishbein NS, Vranceanu AM, Mace RA. Baseline characteristics of adults with neurofibromatosis enrolled on a psychosocial randomized controlled trial. J Neurooncol. 2022;159(3):637–646. doi:10.1007/s11060-022-04104-6
  • Wang DL, Smith KB, Esparza S, et al. Emotional functioning of patients with neurofibromatosis tumor suppressor syndrome. Genet Med. 2012;14(12):977–982. doi:10.1038/gim.2012.85
  • Merker VL, Bredella MA, Cai W, et al. Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis. Am J Med Genet A. 2014;164A(6):1431–1437. doi:10.1002/ajmg.a.36466
  • Doser K, Andersen EW, Kenborg L, et al. Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: a nationwide study. Am J Med Genet Part A. 2020;182A:1704–1715. doi:10.1002/ajmg.a.61627
  • Hamoy-Jimenez G, Kim R, Suppiah S, Zadeh G, Bril V, Barnett C. Quality of life in patients with neurofibromatosis type 1 and 2 in Canada. Neuro Oncol Adv. 2020;2(Suppl1):i141–i149. doi:10.1093/noajnl/vdaa003
  • Descheemaeker MJ, Ghesquière P, Symons H, Fryns JP, Legius E Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children. J Intellect Disabil Res. 2005;49(Pt1):33–46.
  • Graf A, Landolt MA, Mori AC, Boltshauser E. Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1. J Pediatr. 2006;149(3):348–353. doi:10.1016/j.jpeds.2006.04.025
  • Vranceanu AM, Merker VL, Park ER, Plotkin SR. Quality of life among children and adolescents with neurofibromatosis 1: a systematic review of the literature. J Neurooncol. 2015;122(2):219–228. doi:10.1007/s11060-015-1725-1
  • Yoshida Y, Ehara Y, Koga M, Imafuku S. Health-related quality of life in patients with neurofibromatosis 1 in Japan: a questionnaire survey using EQ-5D-5L [published online ahead of print, 2022 Jul 3]. J Dermatol. 2022. doi:10.1111/1346-8138.16510
  • Vranceanu AM, Zale EL, Funes CJ, et al. Mind-body treatment for international english-speaking adults with neurofibromatosis via live video conferencing: protocol for a single-blind randomized controlled trial. JMIR Res Protoc. 2018;7(10):e11008. doi:10.2196/11008
  • Reichman M, Riklin E, Macklin E, Vranceanu AM. Virtual mind-body treatment for adolescents with neurofibromatosis: study protocol for a single-blind randomized controlled trial. Contemp Clin Trials. 2020;95:106078. doi:10.1016/j.cct.2020.106078
  • Martin S, Allen T, Toledo-Tamula MA, et al. Acceptance and commitment therapy for adolescents and adults with neurofibromatosis Type 1, plexiform neurofibromas, and chronic pain: results of a randomized controlled trial. J Contextual Behav Sci. 2021;22(93–101):93–101. doi:10.1016/j.jcbs.2021.10.003
  • Granström S, Langenbruch A, Augustin M, Mautner VF. Psychological burden in adult neurofibromatosis type 1 patients: impact of disease visibility on body image. Dermatology. 2012;224(2):160–167. doi:10.1159/000337548
  • Smith KB, Wang DL, Plotkin SR, Park ER. Appearance concerns among women with neurofibromatosis: examining sexual/bodily and social self-consciousness. Psycho-Oncology. 2013;22(12):2711–2719. doi:10.1002/pon.3350
  • Leidger A, Vosschulte M, Nieder TO, Mautner VF. Sexual self-esteem and psychological burden of adults with neurofibromatosis type 1. Front Psychol. 2022;13. doi:10.3389/fpsyg.2022.883019
  • The University of Alabama at Birmingham. Intimacy and NF1: a resource exploring the impact of NF1 on intimacy and relationships. Available from: https://sites.uab.edu/nf1intimacy/. Accessed September 5, 2022.
  • Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65:1037–1044. doi:10.1212/01.wnl.0000179303.72345.ce
  • Buono FD, Sprong ME, Paul E, Martin S, Larkin K, Garakani A. The mediating effects of quality of life, depression, and generalized anxiety on perceived barriers to employment success for people diagnosed with Neurofibromatosis Type 1. Orphanet J Rare Dis. 2021;16:234. doi:10.1186/s13023-021-01866-6
  • Gregory TA, Molina P, Phillips GD, Henson JW. Impact of neurofibromatosis type 1 in an adult community population. Neuro Oncol Pract. 2022;9(3):229–235. doi:10.1093/nop/npac014
  • Maslow GR, Haydon AA, Ford CA, Halpern CT. Young adult outcomes of children growing up with chronic illness: an analysis of the national longitudinal study of adolescent health. Arch Pediatr Adolesc Med. 2011;165(3):256–261. doi:10.1001/archpediatrics.2010.287
  • Peron A, Canevini MP, Ghelma F, Di Marco F, Vignoli A. Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex. Am J Med Genet C Semin Med Genet. 2018;178(3):355–364. doi:10.1002/ajmg.c.31653
  • Ebel F, Greuter L, Guzman R, Soleman J. Transitional care in pediatric brain tumor patients: a systematic literature review. Children. 2022;9(4):501. doi:10.3390/children9040501
  • White PH, Cooley WC, Boudreau ADA, et al.; Transitions Clinical Report Authoring Group, American Academy of Pediatrics, American Academy of Family Physicians, & American College of Physicians. Supporting the health care transition from adolescence to adulthood in the Medical Home. Pediatrics. 2018;142(5):e20182587. doi:10.1542/peds.2018-2587
  • Gabriel P, McManus M, Rogers K, White P. Outcome Evidence for structured pediatric to adult health care transition interventions: a systematic review. J Pediatr. 2017;188:263–269.e15. doi:10.1016/j.jpeds.2017.05.066
  • Van Lierde A, Menni F, Bedeschi MF, et al. Healthcare transition in patients with rare genetic disorders with and without developmental disability: neurofibromatosis 1 and Williams-Beuren syndrome. Am J Med Genet A. 2013;161A(7):1666–1674. doi:10.1002/ajmg.a.35982
  • White P, Schmidt A, Shorr J, Ilango S, Beck D, McManus M. Six Core Elements of Health Care Transition™ 3.0. Washington, DC: Got Transition®, The National Alliance to Advance Adolescent Health; 2020.
  • Syverson EP, McCarter R, He J, D’Angelo L, Tuchman LK. Adolescents’ perceptions of transition importance, readiness, and likelihood of future success: the role of anticipatory guidance. Clin Pediatr. 2016;55(11):1020–1025. doi:10.1177/0009922816666882
  • Lemke M, Kappel R, McCarter R, D’Angelo L, Tuchman LK. Perceptions of health care transition care coordination in patients with chronic illness. Pediatrics. 2018;141:e20173168. doi:10.1542/peds.2017-3168
  • Children’s Tumor Foundation. Find a doctor. Available from: https://ctf.org/doctor. Accessed September 5, 2022.
  • NF Collective. Find a doctor. Available from: https://nfcollective.org/find-A-doctor. Accessed September 5, 2022.
  • Breneol S, Doucet S, McIsaac J-L, et al. Programmes to support transitions in community care for children with complex care needs: a scoping review. BMJ Open. 2022;12(7):e056799. doi:10.1136/bmjopen-2021-056799
  • Varshney K, Iriowen R, Morrell K, Pillay P, Fossi A, Stephens MM. Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: a scoping review. Am J Med Genet A. 2022;188(8):2293–2302. doi:10.1002/ajmg.a.62854
  • Gray WN, Schaefer MR, Resmini-Rawlinson A, Wagoner ST. Barriers to transition from pediatric to adult care: a systematic review. J Pediatr Psychol. 2018;43(5):488–502. doi:10.1093/jpepsy/jsx142
  • Ellison JL, Brown RE, Ameringer S. Parents’ experiences with health care transition of their adolescents and young adults with medically complex conditions: a scoping review. J Pediatr Nurs. 2022;66(70–78):70–78. doi:10.1016/j.pedn.2022.04.018
  • Miller D, Felker M, Ciccarelli M. Transitioning ambulatory medicine from pediatrics to adult care for patients with epilepsy and intellectual disability. J Pediatr Epilep. 2020;09(04):172–176. doi:10.1055/s-0040-1717135
  • Health Resources & Services Administration (HRSA) Maternal & Child Health. Children and Youth with Special Health Care Needs (CYSHCN). Available from: https://mchb.hrsa.gov/programs-impact/focus-areas/children-youth-special-health-care-needs-cyshcn. Accessed September 5, 2022.
  • Data Resource Center for Child & Adolescent Health. The national survey of children’s health. Available from: https://www.childhealthdata.org/learn-about-The-nsch/NSCH. Accessed September 5, 2022.
  • Lotstein DS, McPherson M, Strickland B, Newacheck PW. Transition planning for youth with special health care needs: results from the national survey of children with special health care needs. Pediatrics. 2005;115(6):1562–1568. doi:10.1542/peds.2004-1262
  • Heron LM, Agarwal R, Greenup J, Maddux M, Attong N, Burke SL. Disparities in healthcare transition support received by adolescents with special healthcare needs. J Appl Res Intellect Disabil. 2020;33(2):180–192. doi:10.1111/jar.12658
  • Van Puymbrouck L, Friedman C, Feldner H Explicit and implicit disability attitudes of healthcare providers. Rehabil Psychol. 2020;65(2):101–112.
  • Chisolm DJ, Keedy HE, Hart LC, et al. Exploring health literacy, transition readiness, and healthcare utilization in medicaid chronically ill youth. J Adolesc Health. 2021;69(4):622–628. doi:10.1016/j.jadohealth.2021.03.023
  • Beal SJ, Riddle IK, Kichler JC, et al. The associations of chronic condition type and individual characteristics with transition readiness. Acad Pediatr. 2016;16(7):660–667. doi:10.1016/j.acap.2016.06.007
  • Huang J, Porterfield SL. Changes in health insurance coverage and health care access as teens with disabilities transition to adulthood. Disabil Health J. 2019;12(4):551–556. doi:10.1016/j.dhjo.2019.06.009
  • Feldman HM, Buysse CA, Hubner LM, Huffman LC, Loe IM. Patient Protection and Affordable Care Act of 2010 and children and youth with special health care needs. J Dev Behav Pediatr. 2015;36(3):207–217. doi:10.1097/DBP.0000000000000151
  • Okumura MJ, Hersh AO, Hilton JF, Lotstein DS. Change in health status and access to care in young adults with special health care needs: results from the 2007 national survey of adult transition and health. J Adolescent Health. 2013;52(4):413–418. doi:10.1016/j.jadohealth.2012.08.005
  • Wang G, Grembowski D, Watts C. Risk of losing insurance during the transition into adulthood among insured youth with disabilities. Matern Child Health J. 2010;14(1):67–74. doi:10.1007/s10995-009-0470-5
  • National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast, ovarian and pancreatic. Volume 2.2022. Available from: https://NCCN.org/guidelines/category_2. Accessed March 9, 2022.
  • Leppävirta J, Kallionpää RA, Uusitalo E, et al. The pregnancy in neurofibromatosis 1: a retrospective register-based total population study. Am J Med Genet A. 2017;173(10):2641–2648. doi:10.1002/ajmg.a.38372
  • Cooley WC, Sagerman PJ; American Academy of Pediatrics; American Academy of Family Physicians; American College of Physicians; Transitions Clinical Report Authoring Group. Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics. 2011;128(1):182–200. doi:10.1542/peds.2011-0969
  • Freed GL; Research Advisory Committee of the American Board of Pediatrics. Comparing perceptions of training for medicine-pediatrics and categorically trained physicians. Pediatrics. 2016;118(3):1104–1108. doi:10.1542/peds.2006-0042
  • Hunt S, Sharma N. Pediatric to adult-care transitions in childhood-onset chronic disease: hospitalist perspectives. J Hosp Med. 2013;8(11):627–630. doi:10.1002/jhm.2091
  • Okumura MJ, Heisler M, Davis MM, Cabana MD, Demonner S, Kerr EA. Comfort of general internists and general pediatricians in providing care for young adults with chronic illnesses of childhood. J General Intern Med. 2008;23(10):1621–1627. doi:10.1007/s11606-008-0716-8
  • Sadun RE, Chung RJ, Pollock MD, Maslow GR. Lost in transition: resident and fellow training and experience caring for young adults with chronic conditions in a large United States’ academic medical center. Med Educ Online. 2019;24(1):1605783. doi:10.1080/10872981.2019.1605783
  • McManus M, Fox H, O’Connor K, Chapman T, MacKinnon J. Pediatric perspectives and practices on transitioning adolescents with special needs to adult health care. Fact Sheet No. 6. The National Alliance to Advance Adolescent Health; 2008. Available from: https://www.thenationalalliance.org/publications/2017/7/9/pediatric-perspectives-and-practices-on-transitioning-adolescents-with-special-needs-to-adult-health-care. Accessed January 20, 2023.
  • Patel MS, O’Hare K. Residency training in transition of youth with childhood-onset chronic disease. Pediatrics. 2010;126(Suppl 3):S190–S193. doi:10.1542/peds.2010-1466P
  • Payment for Transition Services. Six core elements of health care transition. Available from: https://www.gottransition.org/six-core-elements/payment.cfm. Accessed September 5, 2022.
  • NF Clinic Network (NFCN). Children’s tumor foundation. Available from: https://ctf.org/research/nf-clinic-network. Accessed September 5, 2022.
  • Okumura MJ, Kuo DZ, Ware AN, Cyr MH, White PH. Improving health care transitions for children and youth with special health care needs. Acad Pediatr. 2022;22(2):S7–S13. doi:10.1016/j.acap.2021.03.014