ABSTRACT

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder which is caused by the change of the NF1 gene on the 17th chromosome. The disease occurs equally in both sexes. Likewise, it can be inherited from one of the parents or it can appear for the first time in the family as the new change of the neurofibromatosis type 1 gene.

Aim: The aim of this study was to determine whether there is a difference in the quality of life among the neurofibromatosis type 1 patients who have gone through physiotherapy and the neurofibromatosis type 1 patients who have not gone through physiotherapy.

Materials and methods: The sample includes N=44 respondents. The study used a Short form health survey-36 for for assessing the health quality of life and a visually analogous scale of pain.

Results: In the domains of the questionnaire for the assessment of the health quality of life, the average satisfaction of respondents in both groups is the highest in domain of physical functioning (group A: M=56,15, group B: M=81,45). There is a statistically significant difference in the degree of pain on the visually analogous scale of pain scale between groups (p<0,01).

Conclusion: The results of the conducted research showed good quality of life in both groups of respondents. The pain perception is higher in NF1 group A, stressing the need for further introduction of physiotherapy, but also the recognition of the emotional disturbances and depression as the cause of pain.

Key words: neurofibromatosis type 1, quality of life, pain, physiotherapy