Comprehensive Quality of Life (QoL) in Neurofibromatosis Type II (NF2): Development, Refinement and Standardization of a Multi-Dimensional Metric
Annual summary rept. 1 Apr 2011-31 Mar 2012
NEW YORK UNIV NY
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Neurofibromatosis Type 2 NF2, a genetic disorder with highly penetrant autosomal dominant transmission, is characterized by the predictable development of bilateral vestibular schwannomas VS, intracranial and spinal schwannomas, meningiomas, gliomas and ependymomas, cataracts and multiple skin tumors. Tumor progression, as well as therapeutic intervention, may lead to significant cranial, spinal and peripheral nerve dysfunction, resulting in global impairment across of variety of domains. Management of NF2 disease is challenging, complex and controversial. International consensus recommendations and expert panels have described the importance of quality of life QoL measurements in clinical decision making and research trials. However, few studies have examined the QoL in patients with neurofibromatosis and NF2-specific, validated metrics for this population are not currently available. The objective of this research was to develop, refine and validate a multi-dimensional metric for assessment of QoL in patients with NF2. Progress toward this goal has thus far has included generation and ongoing structured interviews with NF2 patients, multidisciplinary health care providers, as well as initial operationalization of this content into a provisional module. Continued work on the additional project aims as specified in the initialstatement of work and annual report is ongoing and will continue until the project termination in October 2012.
- Medicine and Medical Research