Affiliation:
1. University of Toronto Faculty of Medicine: University of Toronto Temerty Faculty of Medicine
2. University Health Network
3. SickKids: The Hospital for Sick Children
4. University of Toronto
Abstract
Abstract
Objective
To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2).
Study design:
We conducted a systematic search of NF1 and NF2 incidence or prevalence studies, in OVID Medline, OVID Embase, Web of Science, and Cinahl. Studies were appraised with the Joanna Briggs Institute Prevalence Critical Appraisal tool. Pooled incidence and prevalence rates were estimated through random-effects meta-analysis.
Results
From 1,939 abstracts, 20 studies were fully appraised and 12 were included in the final review. Pooled NF1 prevalence was 1 in 3,190 (95%CI: 1 in 1,140-1 in 4,755). This was higher in studies that screened for NF1, compared to identification of NF1 through medical records (1 in 2,021 and 1 in 4,403, respectively). NF1 pooled birth incidence was 1 in 2,662 (95%CI: 1 in 1,968-1 in 3,601). There were only 2 studies on NF2 prevalence, so data were not pooled. Pooled NF2 birth incidence was 1.08 per 50,000 births (95%CI: 1 in 32,829-1 in 65,019).
Conclusion
The prevalence of NF1 is higher than previously reported, with higher rates seen in screening studies which suggests that the disease may be under recognized. More studies are needed regarding the prevalence of NF2.
Publisher
Research Square Platform LLC
Reference30 articles.
1. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?;Garcia B;J Med Genet,2022
2. Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants;Moualed D;Eur J Hum Genet EJHG,2022
3. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation;Legius E;Genet Med,2021
4. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG);Stewart DR;Genet Med Off J Am Coll Med Genet,2018
5. Prevalence of neurofibromatosis type 1 in the Finnish population;Kallionpää RA;Genet Med Off J Am Coll Med Genet,2018