Vekeman F, Gauthier-Loiselle M, Faust E, Lefebvre P, Lahoz R, Duh MS, Sacco P. Patient and caregiver burden associated with fragile x syndrome in the United States. Am J Intellect Dev Disabil. 2015 Sep;120(5):444-59. doi: 10.1352/1944-7558-120.5.444.


This study evaluated the incremental healthcare costs associated with Fragile X syndrome (FXS) for patients and their caregivers. Using administrative healthcare claims data (1999-2012), subjects with greater than or equal to 1 FXS diagnosis (ICD-9-CM: 759.83) were matched 1:5 with non-FXS controls using high-dimensional propensity scores. Costs and resource utilization were examined. Among employees, payment for disability leave and absenteeism were also examined. We identified 590 FXS and 2,950 non-FXS individuals along with 647 and 2,611 caregivers, respectively. FXS patients and their caregivers experienced higher all-cause direct costs compared to control cohorts (total[SD]: $14,677[46,752] vs. $6,103[26,081]; $5,259[19,360] vs. $2,120[6,425], respectively, p less than 0.05). Employed FXS patients and caregivers had higher indirect costs compared to their controls (total[SD]: $4,477[5,161] vs. $1,751[2,556]; $2,641[4,238] vs. $1,211[1,936], respectively, p less than 0.05).

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