Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
Marga Lammert1, Jan M Friedman, Lan Kluwe
1Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany.
Insights
The prevalence of neurofibromatosis 1 (NF1) in 6-year-old German children is approximately 1 in 2996. Early diagnosis of NF1 is feasible through routine physical examinations by age six.
Area of Science:
- Genetics and rare diseases
- Pediatric health surveillance
- Epidemiology of genetic disorders
Background:
- Neurofibromatosis 1 (NF1) is a common genetic disorder with variable presentation.
- Accurate prevalence data is crucial for understanding disease burden and resource allocation.
Purpose of the Study:
- To ascertain the prevalence of neurofibromatosis 1 (NF1) in 6-year-old children within Germany.
- To establish the birth incidence of NF1 in the studied population.
Main Methods:
- A large-scale screening of 152,819 six-year-old children across six German states.
- Utilized routine medical examinations during elementary school enrollment for NF1 case identification.
- Confirmed NF1 diagnoses through specialist medical evaluations.
Main Results:
- Identified 51 confirmed cases of NF1, estimating a prevalence of 1:2996 among 6-year-olds.
- Calculated a minimum crude prevalence of 3.0 per 10,000 population.
- Estimated the birth incidence of NF1 to be between 30-38 cases per 100,000 live births.
Conclusions:
- The study provides a near unbiased birth incidence for NF1, estimated between 1:2600 and 1:3000.
- NF1 is largely diagnosable by age six through standard physical examinations focusing on characteristic skin findings.
- Routine screening at school entry can aid in early identification of NF1.
Objective:
To determine the prevalence of neurofibromatosis 1 (NF1) among 6-year-old children in Germany.
Setting And Patients:
A total of 152819 children aged 6 years in 6 German states were screened for NF1 during routine medical examinations at elementary school enrollment in cooperation with local health departments in 2000 and 2001.
Main Outcome Measure:
The prevalence of NF1 among 6-year-old German children was estimated to be 1:2996 (95% confidence interval, 1:2260 to 1:3984).
Results:
Fifty-one NF1 cases were identified and confirmed by evaluation by appropriate medical specialists. Seven other children were found to have multiple cafe au lait spots without other apparent features of NF1. A minimum estimate of the crude prevalence was 3.0 per 10 000 (95% confidence interval, 2.3-4.0 per 10 000 population). The incidence of NF1 in this population was probably in the range of 30 to 38 cases per 100 000 live births.
Conclusion:
Our study obtained a nearly unbiased birth incidence of NF1 of approximately 1 in 2600 to 1 in 3000 and demonstrates that NF1 can be diagnosed by age 6 years in most cases by routine physical examination with special attention to the disease-associated skin stigmata.
