Unravelling the hidden struggles: the impact of neurofibromatosis on adolescent mental health and well-being
DOI:
https://doi.org/10.18203/2394-6040.ijcmph20250329Keywords:
Neurofibromatosis type 1, Adolescents, Psychiatric management, Quality of life, Mental health interventionAbstract
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by benign tumors and various psychosocial challenges, particularly in adolescents. This case vignette details a 14-year-old female with NF1 who presents with significant academic struggles, emotional instability, and social withdrawal, exacerbated by bullying and low self-esteem. Despite a comprehensive medication regimen, including Gabapentin, Methylphenidate, Aripiprazole, and Sertraline, her symptoms persist, highlighting the complexity of managing NF1's multifaceted impact. The interplay between her physical condition and psychiatric manifestations underscores the necessity for a holistic management approach that integrates medical treatment with targeted psychiatric support. This case emphasizes the importance of early identification and intervention for mental health issues in adolescents with NF1, advocating for multidisciplinary strategies that involve healthcare providers, mental health professionals, and families to enhance overall quality of life and facilitate effective coping mechanisms. Further research is essential to refine management practices and address the unique needs of this population.
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References
Yahya H, Sani H. Eruptive neurofibromas in pregnancy. Annals of African Med. 2020;19(2):150-2. DOI: https://doi.org/10.4103/aam.aam_37_19
Thota E, Veeravalli JJ, Manchala SK, Lakkepuram BP, Kodapaneni J, Chen YW, et al. Age-dependent oral manifestations of neurofibromatosis type 1: a case–control study. Orphanet J Rare Dis. 2022;17(1):93. DOI: https://doi.org/10.1186/s13023-022-02223-x
Walsh KS, Janusz J, Wolters PL, Martin S, Klein-Tasman BP, Toledo-Tamula MA, et al. Neurocognitive outcomes in neurofibromatosis clinical trials: recommendations for the domain of attention. Neurol. 2016;87(7):21-30. DOI: https://doi.org/10.1212/WNL.0000000000002928
Diana C, Bursać D, Perković P, Valetić J, Duić Ž, Gašparov S. Higher Order Thinking about Differential Diagnosis: Pelvic Segmental Neurofibromatosis. Obstet Gynaecol Cases Rev. 2023;10(3):1-3. DOI: https://doi.org/10.23937/2377-9004/1410245
Plotkin SR, Blakeley JO, Dombi E, Fisher MJ, Hanemann CO, Walsh KS, et al. Achieving consensus for clinical trials: the REiNS International Collaboration. Neurol. 2013;81(21):1-5. DOI: https://doi.org/10.1212/01.wnl.0000435743.49414.b6
Rietman AB, van der Vaart T, Plasschaert E, Nicholson BA, Oostenbrink R, Krab LC, Descheemaeker MJ, Wit MC, Moll HA, Legius E, Nijs PF. Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1. Am J Med Gen Part B: Neuropsych Gen. 2018;177(3):319-28.
Plasschaert E, Descheemaeker MJ, Van Eylen L, Noens I, Steyaert J, Legius E. Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1. American Journal of Medical Genetics Part B: Neuropsych Gen. 2015;168(1):72-80. DOI: https://doi.org/10.1002/ajmg.b.32280
Holland AA, Stavinoha PL, Swearer SM, Solesbee C, Patel S, Klesse LJ. Rate and frequency of bullying victimization in school-age children with neurofibromatosis type 1 (NF1). School Psychol. 2019;34(6):687.
Yang WI, Tiu CM, Chou YH, Chang CY. Imaging Presentation of Malignant Peripheral Nerve Sheath Tumor at Sacral Region. J Med Ultras. 2011;19(2):52-6. DOI: https://doi.org/10.1016/j.jmu.2011.05.002
Martin S, Wolters PL, Baldwin A, Roderick MC, Toledo-Tamula MA, Gillespie A, et al.Attitudes about internet support groups among adolescents and young adults with neurofibromatosis type 1 and their parents. J Gen Counsel. 2014;23:796-804.
Wiener L, Battles H, Bedoya SZ, Baldwin A, Widemann BC, Pao M. Identifying symptoms of distress in youth living with neurofibromatosis type 1 (NF1). J Genet Counsel. 2018;27:115-23.
Piscitelli O, Digilio MC, Capolino R, Longo D, Di Ciommo V. Neurofibromatosis type 1 and cerebellar T2‐hyperintensities: The relationship to cognitive functioning. Develop Med Child Neurol. 2012;54(1):49. DOI: https://doi.org/10.1111/j.1469-8749.2011.04139.x
Pride NA, Payne JM, North KN. The impact of ADHD on the cognitive and academic functioning of children with NF1. Developmental Neuropsychol. 2012;37(7):590-600. DOI: https://doi.org/10.1080/87565641.2012.695831
Garwood MM, Bernacki JM, Fine KM, Hainsworth KR, Davies WH, Klein-Tasman BP. Physical, cognitive, and psychosocial predictors of functional disability and health‐related quality of life in adolescents with neurofibromatosis‐1. Pain Research and Treatment. 2012;2(1):975364. DOI: https://doi.org/10.1155/2012/975364
Martin S, Wolters PL, Toledo‐Tamula MA, Schmitt SN, Baldwin A, Starosta A, et al. Acceptance and commitment therapy in youth with neurofibromatosis type 1 (NF1) and chronic pain and their parents: a pilot study of feasibility and preliminary efficacy. American journal of medical genetics Part A. 2016;170(6):1462-70. DOI: https://doi.org/10.1002/ajmg.a.37623
Martin S, Gillespie A, Wolters PL, Widemann BC. Experiences of families with a child, adolescent, or young adult with neurofibromatosis type 1 and plexiform neurofibroma evaluated for clinical trials participation at the National Cancer Institute. Contemporary Clin. 2011;32(1):10-5. DOI: https://doi.org/10.1016/j.cct.2010.10.004
Vogel AC, Gutmann DH, Morris SM. Neurodevelopmental disorders in children with neurofibromatosis type 1. Developm Med & Child Neurol. 2017;59(11):1112-6. DOI: https://doi.org/10.1111/dmcn.13526
Rietman AB, van der Vaart T, Plasschaert E, Nicholson BA, Oostenbrink R, Krab LC, Descheemaeker MJ, Wit MC, Moll HA, Legius E, Nijs PF. Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1. American J of Med Genetics Part B: Neuropsychiatric Genetics. 2018;177(3):319-28. DOI: https://doi.org/10.1002/ajmg.b.32612
Holland AA, Stavinoha PL, Swearer SM, Solesbee C, Patel S, Klesse LJ. Rate and frequency of bullying victimization in school-age children with neurofibromatosis type 1 (NF1). School psychol. 2019;34(6):687. DOI: https://doi.org/10.1037/spq0000333
Torres Nupan MM, Velez Van Meerbeke A, López Cabra CA, Herrera Gomez PM. Cognitive and behavioral disorders in children with neurofibromatosis type 1. Frontiers in pediatrics. 2017;5:227. DOI: https://doi.org/10.3389/fped.2017.00227
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(1):141-9. DOI: https://doi.org/10.1093/noajnl/vdaa003
Sanagoo A, Jouybari L, Koohi F, Sayehmiri F. Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study. BMC. 2019;19:1-3. DOI: https://doi.org/10.1186/s12883-019-1338-y
Van Lierde A, Menni F, Bedeschi MF, Natacci F, Guez S, Vizziello P, et al. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and Williams–Beuren syndrome. Am J Med Genetics Part A. 2013;161(7):1666-74. DOI: https://doi.org/10.1002/ajmg.a.35982
Miller D, Felker M, Ciccarelli M. Transitioning ambulatory medicine from pediatrics to adult care for patients with epilepsy and intellectual disability. J Pedia Epi. 2020;9(04):172-6. DOI: https://doi.org/10.1055/s-0040-1717135
Barke J, Coad J, Harcourt D. Parents’ experiences of caring for a young person with neurofibromatosis type 1 (NF1): a qualitative study. Journal of community genetics. 2016;7:33-9. DOI: https://doi.org/10.1007/s12687-015-0247-z
Martin S, Wolters PL, Baldwin A, Roderick MC, Toledo-Tamula MA, Gillespie A, et al. Attitudes about internet support groups among adolescents and young adults with neurofibromatosis type 1 and their parents. J Gen Couns. 2014;23:796-804. DOI: https://doi.org/10.1007/s10897-014-9688-5
Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nature Reviews Disease Primers. 2017;3(1):1-7. DOI: https://doi.org/10.1038/nrdp.2017.4
Wiener L, Battles H, Bedoya SZ, Baldwin A, Widemann BC, Pao M. Identifying symptoms of distress in youth living with neurofibromatosis type 1 (NF1). J of Gene Couns. 2018;27:115-23. DOI: https://doi.org/10.1007/s10897-017-0128-1