Muscle & nerve · 2019
Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Counterman Kevin J, Furlong Pat, Wang Richard T, Martin Ann S
Аннотация
INTRODUCTION: In this study we investigate associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy (DMD).
METHODS: Data were collected from the Duchenne Registry from 2007 to 2019, and then used to assess the impact genotype, race/ethnicity, neighborhood poverty levels, and other sociodemographics factors have on the age of diagnosis of DMD patients without a known family history, using univariate and multivariable linear regression.
RESULTS: The mean age of diagnosis was 4.43 years. Non-Caucasian patients and patients from high-poverty neighborhoods were older at diagnosis (P < .01). Increased year of birth was associated with decreasing age of diagnosis (P < .001). Specific genetic mutation subtypes were associated with later ages of symptom onset and diagnosis (P = .005).
DISCUSSION: After adjusting for genotype and year of birth, the average age of diagnosis was significantly later for traditionally at-risk patients.
METHODS: Data were collected from the Duchenne Registry from 2007 to 2019, and then used to assess the impact genotype, race/ethnicity, neighborhood poverty levels, and other sociodemographics factors have on the age of diagnosis of DMD patients without a known family history, using univariate and multivariable linear regression.
RESULTS: The mean age of diagnosis was 4.43 years. Non-Caucasian patients and patients from high-poverty neighborhoods were older at diagnosis (P < .01). Increased year of birth was associated with decreasing age of diagnosis (P < .001). Specific genetic mutation subtypes were associated with later ages of symptom onset and diagnosis (P = .005).
DISCUSSION: After adjusting for genotype and year of birth, the average age of diagnosis was significantly later for traditionally at-risk patients.