Перейти к главному меню навигации Перейти к основному контенту Перейти к нижнему колонтитулу сайта

№ 1 (2026)

ОБЩИЕ ВОПРОСЫ ТЕРАПИИ И ОБЗОРЫ

Стратегии профилактики и лечения психических расстройств у больных нейрофиброматозом 1-го типа

https://doi.org/10.48612/psyph/tzvv-r257-ph86

Опубликован 2026-03-30

  • Р.Н. Мустафин
    • ,
  • Э.А. Галиева

Р.Н. Мустафин
Башкирский государственный медицинский университет

Э.А. Галиева
Уфимский университет науки и технологий

Аннотация

Актуальность. Нейрофиброматоз 1-го типа (НФ1) является распространенным аутосомно-доминантным заболеванием, проявляющимся развитием множественных опухолей на теле и злокачественных новообразований. У большинства пациентов с НФ1 развиваются различные психические расстройства (ПР), распределение которых по категориям актуально для их диагностики, профилактики и лечения специалистами.

Цель — определить типы ПР, их частоту и наиболее эффективные стратегии профилактики и лечения у пациентов с НФ1.

Методы. Проведен анализ научной литературы в базах данных Scopus, Web of Science, eLIBRARY.RU по заданной тематике. Из 965 публикаций отобрано 63 научных статей для написания данного обзора.

Результаты. Причинами ПР у больных НФ1 служат как поражения головного мозга вследствие патогенеза болезни, так и душевные переживания вследствие обезображивания внешности, отсутствие знаний о лечении опухолевого синдрома. У значительной части пациентов описан ряд ПР, достоверно более высокий, чем в общей популяции. Для профилактики ПР необходимы консультации психологов и психиатров всем больным НФ1 после установления диагноза, информирование их о возможности удаления множественных кожных нейрофибром с помощью хирургического лазера, об эффективности таргетной терапии плексиформных нейрофибром, о методах профилактики передачи НФ1 детям. Для лечения ПР у больных НФ1 используются стратегии согласно клиническим рекомендациям с фармакотерапией в зависимости от типа ПР.

Заключение. Важным фактором профилактики ПР у пациентов с НФ1 является их информирование об имеющихся современных методах лечения опухолевого синдрома, что вселяет уверенность и позволяет улучшить качество жизни. В связи с частым развитием ПР у больных НФ1 необходимы консультации психологов и психиатров для ранней диагностики и лечения ПР в соответствии с клиническими рекомендациями.

Ключевые слова

депрессивные расстройства, качество жизни, нейрофиброматоз 1-го типа, нейрофибромы, психические расстройства, тревожные расстройства

PDF

Библиографические ссылки

  1. Lee T.J., Chopra M., Kim R.H. et al. Incidence and prevalence of neurofibromatosis type 1 and 2: A systematic review and meta-analysis // Orphanet J Rare Dis. – 2023. – Vol. 18 (1). – Art. 292. – https://doi.org/10.1186/s13023-023-02911-2
  2. Miraglia E., Moliterni E., Iacovino C. et al. Cutaneous manifestations in neurofibromatosis type 1 // Clin Ter. – 2020. – Vol. 171 (5). – Pp. e371–e377. – https://doi.org/10.7417/CT.2020.2242
  3. Ly K.L., Blakeley J.O. The diagnosis and management of neurofibromatosis type 1 // Med Clin North Am. – 2019. – Vol. 103. – Pp. 1035–54. – https://doi.org/10.1016/j.mcna.2019.07.004
  4. Copley-Merriman C., Yang X., Juniper M. et al. Natural history and disease burden of neurofibromatosis type 1 with plexiform neurofibromas: A systematic literature review // Adolesc Health Med Ther. – 2021. – Vol. 12. – Pp. 55–66. – https://doi.org/10.2147/AHMT.S303456
  5. Lim Z., Gu T.Y., Tai B.C. et al. Survival outcomes of malignant peripheral nerve sheath tumors (MPNSTs) with and without neurofibromatosis type I (NF1): A meta-analysis // World J Surg Oncol. – 2024. – Vol. 22 (1). – Art. 14. – https://doi.org/10.1186/s12957-023-03296-z
  6. Uusitalo E., Rantanen M., Kallionpää R.A. et al. Distinctive cancer associations in patients with neurofibromatosis type 1 // J Clin Oncol. – 2016. – Vol. 34 (17). – Pp. 1978–86. – https://doi.org/10.1200/JCO.2015.65.3576
  7. Wang D., Zhang B.H., Wen X. et al. Clinical features and surgical treatments of scoliosis in neurofibromatosis type 1: A systemic review and meta-analysis // Eur Spine J. – 2024. – Vol. 33 (7). – Pp. 2646–2665. – https://doi.org/10.1007/s00586-024-08194-w
  8. Genc A., Ünal Y., Ceylan A.C. et al. Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: A single-center study identifying 14 novel variants // Eur J Pediatr. – 2025. – Vol. 184 (12). – Art. 751. – https://doi.org/10.1007/s00431-025-06611-w
  9. Glombova M., Petrak B., Lisy J. et al. Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1 // Brain Dev. – 2019. – Vol. 41 (8). – Pp. 678–90. – https://doi.org/10.1016/j.braindev.2019.04.003
  10. Wu F., Ji X., Shen M. et al. Prevalence, clinical characteristics and outcomes of seizures in neurofibromatosis type 1: A systematic review and single arm meta-analysis // Epilepsy Res. – 2024. – Vol. 208. – Art. 107476. – https://doi.org/10.1016/j.eplepsyres.2024.107476
  11. Al-Farsi F.A.H., Al-Alyani O.B.S., Al-Kumzari A. et al. Systemic review and meta-analysis of the intellectual integrity of children with neurofibromatosis type 1 // World Neurosurg. – 2022. – Vol. 157. – Pp. 69–74. – https://doi.org/10.1016/j.wneu.2021.10.081
  12. Мустафин Р.Н. Особенности хирургического лечения нейрофиброматоза I типа // Российский журнал детской гематологии и онкологии. – 2022. – Т. 9 (2). – С. 54–59. – https://doi.org/10.21682/2311-1267-2022-9-2-54-59
  13. Han Y., Li B., Yu X. et al. Efficacy and safety of selumetinib in patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas: A systematic review and meta-analysis // J Neurol. – 2024. – Vol. 271 (5). – Pp. 2379–2389. – https://doi.org/10.1007/s00415-024-12301-8
  14. Мустафин Р.Н. Возможности диагностики и лечения нейрофиброматоза 1-го типа в России // Сибирский онкологический журнал. – 2023. – Vol. 22 (3). – C. 119–124. – https://doi.org/10.21294/1814-4861-2023-22-3-119-124
  15. Vranceanu A.M., Zale E.L., Funes C.J. et al. Mind-body treatment for international English-speaking adults with neurofibromatosis via live videoconferencing: Protocol for a single-blind randomized controlled trial // JMIR Res Protoc. – 2018. – Vol. 7 (10). – e11008. – https://doi.org/10.2196/11008
  16. Lester E.G., Hopkins S.W., Popok P.J. et al. Adaptation of a live video mind-body program to a web-based platform for English-speaking adults with neurofibromatosis: Protocol for the NF-web study // JMIR Res Protoc. – 2021. – Vol. 10 (6). – e27526. – https://doi.org/10.2196/27526
  17. 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. – Vol. 160 (4). – Pp. 844–8. – https://doi.org/10.1111/j.1365-2133.2008.08949.x
  18. Wei G., Farooq J., Kumar A. Impact of mind-body treatment interventions on quality of life in neurofibromatosis patients: A systematic review and meta-analysis // Dermatol Ther. – 2021. – Vol. 34 (1). – e14613. – https://doi.org/10.1111/dth.14613
  19. Wolkenstein P., Zeller J., Revuz J. et al. Quality-of-life impairment in neurofibromatosis type 1: A cross-sectional study of 128 cases // Arch Dermatol. – 2001. – Vol. 137 (11). – Pp. 1421–5. – https://doi.org/10.1001/archderm.137.11.1421
  20. Granstrom S., Langenbruch A., Augustin M. et al. Psychological burden in adult neurofibromatosis type 1 patients: Impact of disease visibility on body image // Dermatology. – 2012. – Vol. 224 (2). – Pp. 160–167. – https://doi.org/10.1159/000337548
  21. Kanaya M.R., Greenberg J., Bakhshaie J. et al. Diverse learners: learning disabilities and quality of life following mind-body and health education interventions for adults with neurofibromatosis // J Neurooncol. – 2024. – Vol. 167 (2). – Pp. 315–322. – https://doi.org/10.1007/s11060-024-04610-9
  22. Sanagoo A., Jouybari L., Koohi F. et al. Evaluation of QoL in neurofibromatosis patients: A systematic review and meta-analysis study // BMC Neurol. – 2019. – Vol. 19 (1). – Art. 123. – https://doi.org/10.1186/s12883-019-1338-y
  23. Reichardt C., Scherwath A., Felix Mautner V. et al. Psychische Belastung von Erwachsenen mit Neurofibromatose Typ 1: Eine Längsschnittstudie [Psychological distress in adults with neurofibromatosis type 1: A longitudinal study] // Psychother Psychosom Med Psychol. – 2013. – Vol. 63 (2). – Pp. 85–92. – https://doi.org/10.1055/s-0032-1321883
  24. Wang D.L., Smith K.B., Esparza S. et al. Emotional functioning of patients with neurofibromatosis tumor suppressor syndrome // Genet Med. – 2012. – Vol. 14 (12). – Pp. 977–82. – https://doi.org/10.1038/gim.2012.85
  25. Bottesi G., Spoto A., Trevisson E. et al. Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement // Br J Dermatol. – 2020. – Vol. 182 (6). – Pp. 1449–1457. – https://doi.org/10.1111/bjd.18363
  26. Bannon S.M., Hopkins S.W., Grunberg V.A. et al. Psychosocial profiles of risk and resiliency in neurofibromatoses: A person-centered analysis of illness adaptation // J Neurooncol. – 2022. – Vol. 156 (3). – Pp. 519–527. – https://doi.org/10.1007/s11060-021-03928-y
  27. Kaczorowski J.A., Smith T.F., Shrewsbury A.M. et al. Neurofibromatosis type 1 implicates ras pathways in the genetic architecture of neurodevelopmental disorders // Behav Genet. – 2020. – Vol. 50 (4). – Pp. 191–202. – https://doi.org/10.1007/s10519-020-09991-x
  28. Serur Y., Russo O., McGhee C.A. et al. Increased prevalence of psychiatric disorders in children with RASopathies: Comparing NF1, Noonan syndrome spectrum disorder, and the general population // Genes (Basel). – 2025. – Vol. 16 (7). – Art. 843. – https://doi.org/10.3390/genes16070843
  29. Crow A.J.D., Janssen J.M., Marshall C. et al. A systematic review and meta-analysis of intellectual, neuropsychological, and psychoeducational functioning in neurofibromatosis type 1 // Am J Med Genet A. – 2022. – Vol. 188 (8). – Pp. 2277–2292. – https://doi.org/10.1002/ajmg.a.62773
  30. Vogel A.C. Editorial: Understanding the nature of attention problems in neurofibromatosis type 1: Clinical and research implications // J Am Acad Child Adolesc Psychiatry. – 2025. – Vol. 64 (4). – Pp. 419–420. – https://doi.org/10.1016/j.jaac.2024.12.005
  31. Eijk S., Mous S.E., Dieleman G.C. et al. Autism spectrum disorder in an unselected cohort of children with neurofibromatosis type 1 (NF1) // J Autism Dev Disord. – 2018. – Vol. 48 (7). – Pp. 2278–2285. – https://doi.org/10.1007/s10803-018-3478-0
  32. Plasschaert E., Descheemaeker M.J., Van Eylen L. et al. Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1 // Am J Med Genet B Neuropsychiatr Genet. – 2015. – Vol. 168B (1). – Pp. 72–80. – https://doi.org/10.1002/ajmg.b.32280
  33. Morotti H., Mastel S., Keller K. et al. Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1 // Dev Med Child Neurol. – 2021. – Vol. 63 (2). – Pp. 226–232. – https://doi.org/10.1111/dmcn.14558
  34. Sanchez-Marco S.B., Lopez-Pison J., Serrano-Vinuales I. et al. Neurofibromatosis tipo 1 y trastorno por deficit de atencion. Nuestra experiencia actual [Neurofibromatosis type 1 and attention-deficit disorder. Our current experience] // Rev Neurol. – 2019. – Vol. 68 (1). – Pp. 7–10.
  35. Galasso C., Lo-Castro A., Di Carlo L. et al. Planning deficit in children with neurofibromatosis type 1: A neurocognitive trait independent from attention-deficit hyperactivity disorder (ADHD) // J Child Neurol. – 2014. – Vol. 29 (10). – Pp. 1320–6. – https://doi.org/10.1177/0883073813517001
  36. Hou Y., Yu L., Liu D. et al. Systematic review and meta-analysis: Attention-deficit/hyperactivity disorder symptoms in children with neurofibromatosis type 1 // J Am Acad Child Adolesc Psychiatry. – 2025. – Vol. 64 (4). – Pp. 447–462. – https://doi.org/10.1016/j.jaac.2024.09.011
  37. Saini L., Mukherjee S., Gunasekaran P.K. et al. Sleep problems in children with neurocutaneous syndromes: A cross-sectional study // J Child Neurol. – 2022. – Vol. 37 (10–11). – Pp. 864–870. – https://doi.org/10.1177/08830738221114560
  38. Kenborg L., Andersen E.W., Duun-Henriksen A.K. et al. Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort study // Am J Med Genet A. – 2021. – Vol. 185 (12). – Pp. 3706–3716. – https://doi.org/10.1002/ajmg.a.62436
  39. Brar K.S., Trivedi C., Kaur N. et al. Prevalence of psychiatric comorbidities in patients with neurofibromatosis // Prim Care Companion CNS Disord. – 2023. – Vol. 25 (5). – 23m03514. – https://doi.org/10.4088/PCC.23m03514
  40. Baxter A.J., Scott K.M., Vos T. et al. Global prevalence of anxiety disorders: A systematic review and meta-regression // Psychol Med. – 2013. – Vol. 43 (5). – Pp. 897–910. – https://doi.org/10.1017/S003329171200147X
  41. Doser K., Andersen E.W., 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 A. – 2020. – Vol. 182 (7). – Pp. 1704–1715. – https://doi.org/10.1002/ajmg.a.61627
  42. Dance B., Dardare A., Fleming J. et al. The impact of cutaneous neurofibromas on quality of life and mental health in neurofibromatosis type 1 // J Dermatol. – 2024. – Vol. 51 (8). – Pp. 1050–1059. – https://doi.org/10.1111/1346-8138.17276
  43. Yamauchi T., Suka M. Quality of life in patients with neurofibromatosis type 1: A nationwide database study in Japan from 2015 to 2019 // Environ Health Prev Med. – 2023. – Vol. 28. – Art. 77. – https://doi.org/10.1265/ehpm.23-00221
  44. Hamoy-Jimenez G., Kim R., Suppiah S. et al. Quality of life in patients with neurofibromatosis type 1 and 2 in Canada // Neurooncol Adv. – 2020. – Vol. 2, suppl. 1. – Pp. i141–i149. – https://doi.org/10.1093/noajnl/vdaa003
  45. Yoo H.K., Porteous A., Ng A. et al. Impact of neurofibromatosis type 1 with plexiform neurofibromas on the health-related quality of life and work productivity of adult patients and caregivers in the UK: A cross-sectional survey // BMC Neurol. – 2023. – Vol. 23 (1). – Art. 419. – https://doi.org/10.1186/s12883-023-03429-7
  46. Cohen J.S., Levy H.P., Sloan J. et al. Depression among adults with neurofibromatosis type 1: Prevalence and impact on quality of life // Clin Genet. – 2015. – Vol. 88 (5). – Pp. 425–30. – https://doi.org/10.1111/cge.12551
  47. Tang P.L., Wang H.H., Chou F.H. A Systematic review and meta-analysis of demoralization and depression in patients with cancer // Psychosomatics. – 2015. – Vol. 56. – Pp. 634–43. – https://doi.org/10.1016/j.psym.2015.06.005
  48. Belzeaux R., Lançon C. Neurofibromatose de type 1. Troubles psychiatriques et altération de la qualité de vie [Neurofibromatosis type 1: Psychiatric disorders and quality of life impairment] // Presse Med. – 2006. – Vol. 35 (2). – Pp. 277–80. – https://doi.org/10.1016/s0755-4982(06)74570-5
  49. Berardelli I., Maraone A., Belvisi D. et al. The importance of suicide risk assessment in patients affected by neurofibromatosis // Int J Psychiatry Clin Pract. – 2021. – Vol. 25 (4). – Pp. 350–355. – https://doi.org/10.1080/13651501.2021.1921217
  50. Lester E.G., Wang K.E., Blakeley J.O. et al. Occurrence and severity of suicidal ideation in adults with neurofibromatosis participating in a mind-body RCT // Cogn Behav Neurol. – 2023. – Vol. 36 (1). – Pp. 19–27. – https://doi.org/10.1097/WNN.0000000000000332
  51. Wiener L., Battles H., Bedoya S.Z. et al. Identifying symptoms of distress in youth living with neurofibromatosis type 1 (NF1) // J Genet Couns. – 2018. – Vol. 27 (1). – Pp. 115–123. – https://doi.org/10.1007/s10897-017-0128-1
  52. Armand M.L., Taieb C., Bourgeois A. et al. Burden of adult neurofibromatosis 1: Development and validation of a burden assessment tool // Orphanet J Rare Dis. – 2019. – Vol. 14 (1). – P. 94. – https://doi.org/10.1186/s13023-019-1067-8
  53. Payne J.M., Walsh K.S., Pride N.A. et al. Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: Evidence for clinical trial outcomes // Dev Med Child Neurol. – 2020. – Vol. 62 (7). – Pp. 813–819. – https://doi.org/10.1111/dmcn.14517
  54. Vranceanu A.M., Merker V.L., Plotkin S.R. et al. The relaxation response resiliency program (3RP) in patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis: Results from a pilot study // J Neurooncol. – 2014. – Vol. 120 (1). – Pp. 103–9. – https://doi.org/10.1007/s11060-014-1522-2
  55. Vranceanu A.M., Manglani H.R., Choukas N.R. et al. Effect of mind-body skills training on quality of life for geographically diverse adults with neurofibromatosis: A fully remote randomized clinical trial // JAMA Netw Open. – 2023. – Vol. 6 (6). – e2320599. – https://doi.org/10.1001/jamanetworkopen.2023.20599
  56. D’Silva S., Poscablo C., Habousha R. et al. Mind-body medicine therapies for a range of depression severity: A systematic review // Psychosomatics. – 2012. – Vol. 53 (5). – Pp. 407–423. – https://doi.org/10.1016/j.psym.2012.04.006
  57. Lester E., DiStefano S., Mace R. et al. Virtual mind-body treatment for geographically diverse youth with neurofibromatosis: A pilot randomized controlled trial // Gen Hosp Psychiatry. – 2020. – Vol. 62. – Pp. 72–78. – https://doi.org/10.1016/j.genhosppsych.2019.12.001
  58. Grunberg V.A., Bakhshaie J., Manglani H. et al. Mindfulness, coping, and optimism as mechanisms of change in the 3RP-NF intervention // J Clin Psychol. – 2024. – Vol. 80 (2). – Pp. 456–470. – https://doi.org/10.1002/jclp.23623
  59. McDermott K., Bakhshaie J., Brewer J. et al. The impact of a virtual mind-body program on symptoms of depression and anxiety among international English-speaking adults with neurofibromatosis // Am J Med Genet A. – 2024. – Vol. 194 (6). – e63543. – https://doi.org/10.1002/ajmg.a.63543
  60. Yoncheva Y.N., Hardy K.K., Lurie D.J. et al. Computerized cognitive training for children with neurofibromatosis type 1: A pilot resting-state fMRI study // Psychiatry Res Neuroimaging. – 2017. – Vol. 266. – Pp. 53–58. – https://doi.org/10.1016/j.pscychresns.2017.06.003
  61. Martin S., Wolters P.L., Toledo-Tamula M.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 // Am J Med Genet A. – 2016. – Vol. 170 (6). – Pp. 1462–70. – https://doi.org/10.1002/ajmg.a.37623
  62. Torres Nupan M.M., Velez Van Meerbeke A., Lopez Cabra C.A., Herrera Gomez P.M. Cognitive and behavioral disorders in children with neurofibromatosis type 1 // Front Pediatr. – 2017. – Vol. 5. – Art. 227. – https://doi.org/10.3389/fped.2017.00227
  63. Sato A. mTOR, a potential target to treat autism spectrum disorder // CNS Neurol Disord Drug Targets. 2016. – Vol. 15 (5). – Pp. 533–43. – https://doi.org/10.2174/1871527315666160413120638

Скачивания

Данные скачивания пока недоступны.