Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

This study aims to understand predictors of adaptation and quality of life among adults affected with neurofibromatosis type 1 (NF1) and autosomal dominant neurocutaneous condition. NF1 carries a significant psychosocial burden for affected individuals. Aspects of NF1 that are especially challenging include the unpredictable nature of the disease, variability in severity of symptoms and medical complications, uncertainty in progression, and vulnerability to stigmatization due to the highly visible and often cosmetically disfiguring features of the condition. The literature suggests that because of these and other challenges posed by NF1, affected individuals may struggle to adapt to their condition and, consequently, experience poor quality of life. In this study, Lazarus and Folkman s Tranactional Model of Stress and Coping is used as a framework to conceptualize adaptation and quality of life to NF1. A cross-sectional design with quantitative methodology will be employed to investigate the relationships of appraisals and stigma as predictors of adaptation and quality of life. Adults affected with NF1 will be recruited via regional and national NF organizations and websites, as well as through ongoing NIH clinical research protocols for NF1. Eligible participants will be invited to complete a web-based, self-administered survey....

Condition or disease
Neurofibromatosis Type 1; Von Recklinghausen Disease; NF1

Detailed Description:

This study aims to understand predictors of adaptation and quality of life among adults affected with neurofibromatosis type 1 (NF1) and autosomal dominant neurocutaneous condition. NF1 carries a significant psychosocial burden for affected individuals. Aspects of NF1 that are especially challenging include the unpredictable nature of the disease, variability in severity of symptoms and medical complications, uncertainty in progression, and vulnerability to stigmatization due to the highly visible and often cosmetically disfiguring features of the condition. The literature suggests that because of these and other challenges posed by NF1, affected individuals may struggle to adapt to their condition and, consequently, experience poor quality of life. In this study, Lazarus and Folkman s Transactional Model of Stress and Coping is used as a framework to conceptualize adaptation and quality of life to NF1. A cross-sectional design with quantitative methodology will be employed to investigate the relationships of appraisals and stigma as predictors of adaptation and quality of life. Adults affected with NF1 will be recruited via regional and national NF organizations and websites, as well as through ongoing NIH clinical research protocols for NF1. Eligible participants will be invited to complete a web-based, self-administered survey.

Study Design

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type :	Observational
Actual Enrollment :	645 participants
Time Perspective:	Prospective
Official Title:	Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I
Study Start Date :	May 15, 2008
Study Completion Date :	November 27, 2015

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	18 Years and older (Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

• INCLUSION CRITERIA:

Adult men and women at least 18 years of age who self-report as having NF1.

Participants must be able to read and write in English.

Individuals of all ethnic, religious, socioeconomic, and educational backgrounds and from a variety of geographic locations in the United States will be included.

EXCLUSION CRITERIA:

Children under the age of 18.

Inability to read and write in English.

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Locations

United States, Maryland
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Human Genome Research Institute (NHGRI)

Investigators

Principal Investigator:	Barbara B Biesecker	National Human Genome Research Institute (NHGRI)

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Publications:

Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2007 Aug;16(4):387-407. Epub 2007 Jul 17. Review.

Ablon J. The nature of stigma and medical conditions. Epilepsy Behav. 2002 Dec;3(6S2):2-9.

Benjamin CM, Colley A, Donnai D, Kingston H, Harris R, Kerzin-Storrar L. Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. J Med Genet. 1993 Jul;30(7):567-74.

Responsible Party:	National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier:	NCT00684398 History of Changes
Other Study ID Numbers:	999908144; 08-HG-N144
First Posted:	May 26, 2008
Last Update Posted:	April 20, 2018
Last Verified:	November 27, 2015

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):

Neurofibromatosis Type 1; Quality of Life; Adaptation	Stress and Coping Model; NF1; Survey

Additional relevant MeSH terms:

Neurofibromatoses; Neurofibromatosis 1; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes	Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Peripheral Nervous System Diseases; Neuromuscular Diseases; Peripheral Nervous System Neoplasms; Nervous System Neoplasms