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Impact of Neurofibromatosis 2 on Quality of Life

Hornigold, RE; (2015) Impact of Neurofibromatosis 2 on Quality of Life. Doctoral thesis , UCL (University College London). Green open access

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Abstract

Objectives: To perform a case note review to describe unusual clinical manifestations of NF2 within the patient cohort. To describe quality of life (QOL) in individuals with Neurofibromatosis 2 (NF2) using qualitative and quantitative measures. To develop a reliable, validated disease-specific score to measure QOL in NF2. / Design: A case note review of 61 patients with NF2 was performed to identify trends or novel findings. The novel finding of hypertension in the cohort was investigated using a retrospective cohort study. The causes of epilepsy in NF2 were explored using imaging and histological findings. Qualitative interviews and a focus group session generated items for a pilot questionnaire. This was tested and refined. The final version (NFTI-QOL) was validated with two generic QOL questionnaires and the use of two control groups. / Results: Trends in cause of death and surgical intervention were described. In the hypertension study, 50 patients with NF2 were matched against 45 controls. Mean systolic and diastolic blood pressure (BP) was significantly higher in the NF2 group than the control group (p=0.003). Imaging of 5 individuals with epilepsy and NF2 was reviewed and cortical lesions were identified in all cases. NF2 impacts QOL in a number of areas, and these are described using framework analysis and quantitative measures. An 8-point disease-specific QOL score for NF2 patients was developed with good internal reliability. It correlated strongly with clinician rated disease severity in NF2, with stronger correlation than the Short-form 36 (SF-36) in this regard, and was validated against both SF-36 and EuroQOL. / Conclusions: The primary aim of this project was to produce a disease-specific QOL score for NF2 and this has been achieved. There was a novel finding of hypertension in NF2, and if this is confirmed with a prospective study, it may lead to changes in assessment and management.

Type: Thesis (Doctoral)
Title: Impact of Neurofibromatosis 2 on Quality of Life
Event: UCL (University College London)
Open access status: An open access version is available from UCL Discovery
Language: English
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
URI: https://discovery.ucl.ac.uk/id/eprint/1473025
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