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E-mail: vera_lipkovskaya@mail.ru


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Life Quality of Patients with Neurofibromatosis: Review of Foreign Investigations and Survey Data of Russian Patients

Author:

Vera V. Lipkovskaya

Ph.D. in Law, member of working group Union of Patients and Patient Organizations for Rare Diseases, Moscow, Russia

E-mail: vera_lipkovskaya@mail.ru

In the article the life quality concept of patients with neurofibromatosis was reviewed. The problem of formation of psychological support of these patients was described based on anonymous survey performed on patients in 2019. Findings can be used as an informational base for creation of similar psychological support programs and for the further developing of life quality concept in Russian science.

Key words: neurofibromatosis, schwannomatosis, life quality of patients with neurofibromatosis, psychological support, defectology (study of mental defects and physical handicaps).



1. Introduction to the Cognitive and Social Development of Children with Neurofibromatosis Type 1. Maria T. Acosta, Caroline Stephens and Bruce Korf. Children’s Tumor Foundation, 2016.

2. ZollerM, RembeckB, BackmanL. Neuropsychological deficits in adults with Neurofibromatosis type 1. Acta Neurol Scand 1997: 95: 225–232. Munksgaard 1997.

3. NollRB, Reiter-PurtillJ, MooreBD, SchorryEK, LovellAM, VannattaK, GerhardtCA. 2007. Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet Part A 143A:22612273.

4. MorrisSM, AcostaMT, GargS, GreenJ, HusonS, LegiusE, NorthKN, PayneJM, PlasschaertE, FrazierTW, WeissLA, ZhangY, GutmannDH, ConstantinoJN. Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1. A Study of the International NF1-ASD Consortium Team (INFACT). JAMA Psychiatry. 2016 Dec 1;73(12):12761284.

5. GargS, GreenJ, LeadbitterK, et al. Neurofibromatosis type 1 and autism spectrum disorder. Pediatrics 2013;132(6): 16428; Walsh KS, Velez JI, Kardel PG, et al. Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol 2013; 55(2):1318.

6. Ivan WilliamsJ, Wood-DauphineeS. Quality of Life and Technology Assessment: Monograph of the Council on Health Care Technology. Institute of Medicine (US) Council on Health Care Technology. Washington (DC):National Academies Press (US); 1989.

7. P.Wolkenstein, D.Rodriguez, S.Ferkal, GravierH, BuretV, AlgansN, SimeoniM.-C., Bastuji-GarinS. Impact of neurofibromatosis 1 upon quality of life in childhood: a crosssectional study of 79 cases. British Journal of Dermatology. 2009.

8. WolkensteinP, ZellerJ, RevuzJ, EcosseE, LeplègeA. Arch Dermatol. 2001 Nov;137(11):14215. Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases.

9. PagePZ, PageGP, EcosseE, KorfBR, LeplegeA, WolkensteinP. Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases. Am J Med Genet A. 2006 Sep 15;140(18):18938.

10. ArmandML, TaiebC, BourgeoisA, BourlierM, BennaniM, BodemerP, WolkensteinP, along with the French national network on rare skin diseases. Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool. Orphanet Journal of Rare Diseases 2019.


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