Use this URL to cite or link to this record in EThOS: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.790019
Title: Impact of neurofibromatosis 2 on quality of life
Author: Hornigold, R. E.
ISNI:       0000 0004 8503 0793
Awarding Body: UCL (University College London)
Current Institution: University College London (University of London)
Date of Award: 2015
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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.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID: uk.bl.ethos.790019  DOI: Not available
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