Neurofibromatosis 1 in Old Age: International Interdisciplinary Analyses of the Issues

Principal Investigator: John J. Mulvihill, MD

Abstract:

For this proposal, focus groups will be held and rich detail will be gained, in a consensus fashion, following analysis by well accepted qualitative methods. These focus groups are a necessary means to understanding the life-course of persons with NF1 as they age with, what is essentially, a chronic disease.  No prior research has attempted to integrate an understanding of NF1 and the field of geriatric medicine.  Focus group discussion probes will be crafted by gerontologists and geriatricians in such a way as to allow characterization of the older NF1 experience in terms commonly employed by aging-related researchers.  Quality of Life (QOL) indicators, barriers and facilitators to medical access, extent of social functioning, consequences  of disease burden, extent of family support, and values and preferences for health care are all important in this population.  Geriatricians facing an aging population of NF1 patients have no guidelines or assessment instruments specific to the unique needs of NF1 patients. This proposal is the first look at the descriptive and clinical epidemiology of aging in NF1.  Focus group participants will be identified and recruited via several strategies. Our primary method will be to utilize established rosters of NF1 persons with birthdates before January 1, 1955 from existing registries and clinical records. Access to existing registries will be requested through appropriate channels. Networking with national and local NF support groups of participants (NF1 patients, non-affected siblings, and caregivers) will convene separately to allow for homogeneity within the membership at each session. Persons with NF1 are expected to provide the best discourse regarding aging with NF1, perceptions of NF1 as a chronic disease, and will offer corroboration of the index case's commentary.  Focus group discussion will be digitally recorded and transcribed.  All transcriptions will be entered into content analysis software for manipulation, coding, interpretation, and eventually hypothesis generation for subsequent research.  Collected information will be used to characterize self-reported perceptions of health and well-being by persons affected with NF1 as they age with this chronic disease using qualitative data analysis techniques. Data reduction by the method of content analysis will continue until consensus is achieved.  Each focus group participant with NF1 will be offered the chance to donate a blood sample for NF1 genotyping.  The entire NF1 cDNA will be amplified using 10 overlapping fragments, ranging in size from 634 to 1262 nucleotides. The sequence is read by computer and verified visually to identify mutation of any nature.  If no mutation is found, FISH with NF1 probes will be conducted to rule out large deletions.  The results obtained will be used to further categorize the characteristics of the individuals with NF1 who participate in the focus groups.

Participant Inclusion Criteria:

1. Individuals over the age of 50 diagnosed with NF1; family members of those over the age of 50 diagnosed with NF1; caregivers of those over the age of 50 diagnosed with NF1.

Participant Compensation:

Yes

Contact Information:

Matthew Grim (405) 271-8685 Ext 42179 e-mail matthew-grim@ouhsc.edu

or Jessica Mester (405) 271-8685 Ext 42075 e-mail jessica-mester@ouhsc.edu