P.138 A systematic review of the incidence and prevalence of Neurofibromatosis type 1 and 2. (November 2021)

• Record Type: Journal Article
• Authors: Lee, J; Chopra, M; Kim, R; Parkin, P; Barnett Tapia, C
• Is Part Of: Canadian journal of neurological sciences. Volume 48(2021)Supplement S3
• Page Start: S59
• Page End: S59
• Publication Date: 2021-11
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Electronic journals; 616.8
• DOI: 10.1017/cjn.2021.414
• Languages: English
• ISSNs: 0317-1671

Abstract

Abstract : Background: Neurofibromatosis 1 and 2 (NF1 and NF2) are autosomal dominant genetic disorders caused by mutations in tumour suppressor genes. Methods: We conducted a systematic review of the incidence and prevalence of NF1 and NF2 in OVID Medline, OVID Embase, Web of Science, and Cinahl. We included studies until February 19, 2021, that identified cases based on established criteria. Studies were appraised for quality using the Joanna Briggs Institute Prevalence Critical Appraisal tool. Pooled incidence and prevalence rates were estimated through meta-analysis. Results: Of 1, 936 studies, 1, 866 were irrelevant after title and abstract screening. Sixteen of 69 studies with full text assessment were included for full review: 13 regarding NF1 and 6 regarding NF2. Incidence rates for NF1 and NF2 ranged from 1/11, 494 to 1/1, 871 and 1/62, 185 to 1/33, 000 respectively. Prevalence rates for NF1 and NF2 ranged from 1/6, 238 to 1/1, 001 and 1/600, 000 to 1/56, 161 respectively. Meta-analysis will be presented at the conference. Conclusions: An accurate estimate of the incidence and prevalence of NF1 and NF2 will offer more insight into health resource allocation. Increased funding and resources for the development of early diagnostic and treatment tools for NF1 and NF2 may improve the quality of life of patients.