Last data update: May 06, 2024. (Total: 46732 publications since 2009)
Records 1-2 (of 2 Records) |
Query Trace: Fapo O[original query] |
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Time to Diagnosis of Duchenne Muscular Dystrophy Remains Unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), 2000-2015.
Thomas S , Conway KM , Fapo O , Street N , Mathews KD , Mann J , Romitti PA , Soim A , Westfield C , Fox DJ , Ciafaloni E . Muscle Nerve 2022 66 (2) 193-197 INTRODUCTION/AIMS: With current and anticipated disease-modifying treatments including gene therapy, an early diagnosis for Duchenne muscular dystrophy (DMD) is crucial to assure maximum benefit. In 2009 a study from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) showed an average diagnosis age of five years among males with DMD born from 1/1/1982 to 12/31/2000. Initiatives were implemented by the Centers for Disease Control and Prevention (CDC) and patient organizations to reduce time to diagnosis. We conducted a follow up study in a surveillance cohort born after 1/1/2000 to determine whether there has been an improvement in time to diagnosis. METHODS: We assessed the age of diagnosis among males with DMD born from 1/1/2000-12/31/2015 using data collected by six US MD STARnet surveillance sites (Colorado, Iowa, Western New York State, Piedmont region of North Carolina, South Carolina, and Utah). The analytic cohort included 221 males with definite or probable DMD diagnosis without a documented family history. We computed frequency counts and percentages for categorical variables; and means, medians, and standard deviations (SD) for continuous variables. RESULTS: The mean [median] ages in years of diagnostic milestones were: first signs 2.7 [2.0], first creatine kinase (CK) 4.6 [4.6], DNA/muscle biopsy testing 4.9 [4.8], and time from first signs to diagnostic confirmation 2.2 [1.4]. DISCUSSION: The time interval between first signs of DMD and diagnosis remains unchanged at 2.2 years. This results in lost opportunities for timely genetic counseling, implementation of standards of care, initiation of glucocorticoids and participation in clinical trials. This article is protected by copyright. All rights reserved. |
Health care transition perceptions among parents of adolescents with congenital heart defects in Georgia and New York
Gaydos LM , Sommerhalter K , Raskind-Hood C , Fapo O , Lui G , Hsu D , Van Zutphen A , Glidewell J , Farr S , Rodriguez FH3rd , Hoffman T , Book W . Pediatr Cardiol 2020 41 (6) 1220-1230 With increasing survival trends for children and adolescents with congenital heart defects (CHD), there is a growing need to focus on transition from pediatric to adult specialty cardiac care. To better understand parental perspectives on the transition process, a survey was distributed to 451 parents of adolescents with CHD who had recent contact with the healthcare system in Georgia (GA) and New York (NY). Among respondents, 90.7% reported excellent, very good or good health-related quality of life (HRQoL) for their adolescent. While the majority of parents (77.8%) had been told by a provider about their adolescent's need to transition to adult specialty cardiac care, most reported concerns about transitioning to adult care. Parents were most commonly concerned with replacing the strong relationship with pediatric providers (60.7%), locating an appropriate adult provider (48.7%), and accessing adult health insurance coverage (43.6%). These findings may offer insights into transition planning for adolescents with CHD. |
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