Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Case Definition in Surveillance for Childhood-Onset Duchenne/Becker Muscular Dystrophy

作者：Mathews Katherine D^*; Cunniff Chris; Kantamneni Jiji R; Ciafaloni Emma; Miller Timothy; Matthews Dennis; Cwik Valerie; Druschel Charlotte; Miller Lisa; Meaney F John; Sladky John; Romitti Paul A

来源：Journal of Child Neurology, 2010, 25(9): 1098-1102.

DOI：10.1177/0883073810371001

• Duchenne muscular dystrophy
• Becker muscular dystrophy
• diagnostic testing
• dystrophin

The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in 1 of the participating sites. Critical diagnostic elements of each abstracted record are reviewed independently by > 4 clinicians and assigned to 1 of 6 case definition categories (definite, probable, possible, asymptomatic, female, not Duchenne/Becker muscular dystrophy) by consensus. As of November 2009, 815 potential cases were reviewed. Of the cases included in analysis, 674 (82%) were either ''definite'' or ''probable'' Duchenne/Becker muscular dystrophy. These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009.

• 出版日期2010-9