Study on Rare Disease Patients in Brazil
Author Information
Author(s): Everson Andrade de Carvalho, Roberto Del Claro Hopker, Gustavo Henrique Pedroso, Leonardo Silva de Almeida, José Alfredo Trevisan Pacher, Antônio André Lucas Miranda, Josiane de Souza, Zeny Michelle Silva, Mara Lúcia Schmitz Ferreira Santos, Daniel Almeida do Valle, Fabiana Antunes Andrade
Primary Institution: Universidade Positivo, Departamento de Medicina, Curitiba, PR, Brazil
Hypothesis
What is the impact of a referral service for rare diseases on diagnosis times in Brazil?
Conclusion
The study found that about one third of patients were diagnosed with rare diseases, and the average time to diagnosis was 3.0 years, indicating a positive impact from the referral service.
Supporting Evidence
- 34.1% of patients were diagnosed with rare diseases.
- The average time until diagnosis was 3.0 years.
- Patients from the interior region had longer diagnosis times compared to those in Curitiba.
- Most common rare diseases included mucopolysaccharidosis type II and tuberous sclerosis.
- Genetic testing was crucial for diagnosis, with a high percentage of genetic etiology.
Takeaway
This study looked at kids with rare diseases in Brazil and found that it takes a long time to get a diagnosis, but having a special service helps a bit.
Methodology
Descriptive study analyzing clinical and epidemiological data from medical records and genetic tests.
Potential Biases
Data collection was not blinded, which could introduce bias.
Limitations
Some clinical data in medical records were incomplete, which may lead to inaccurate interpretations.
Participant Demographics
56.7% male, 43.3% female; majority were children aged 1-4 years; most patients were of White race.
Statistical Information
P-Value
0.004
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website