OBJECTIVES:

Fragile X syndrome (FXS) is a genetic condition associated with cognitive impairment. Little is known concerning the healthcare burden of this population from a United Kingdom perspective. We wished to address this data gap.

METHODS:

Patients were selected form the Clinical Practice Research Datalink (CPRD) Aurum dataset linked to Hospital Episode Statistics (HES). Patients with Fragile X were selected by relevant clinical codes recorded within either dataset. FXS patients were required to be registered at an Aurum practice and have a diagnosis before 1^st January 2019. Control patients were matched 1:1 to cases on age, gender and concurrent practice registration. Healthcare contacts and associated costs (UK 2019/2020 prices) were calculated per person year (PPY) and generalised linear models constructed to compare the incidence rate ratio (IRR) (Poisson) and cost ratio (CR) (Gamma) between FXS patients and controls.

RESULTS:

1,520 patients with FXS were selected; all were matched to controls. The mean age was 32 years and 65% were male. The rate of healthcare contacts was significantly greater for FXS patients than controls: primary care 5.56 vs 4.18 PPY (IRR=1.19 [95% CI 1.15-1.23]), inpatient admissions 0.36 vs 0.28 (1.18 [1.02-1.37]), outpatient 2.86 vs 2.38 (1.11 [1.05-1.16]) and emergency room (ER) 0.48 vs 0.34 (1.28 [1.12-1.48]). Costs PPY were also significantly greater for cases than controls for primary care £134 vs £101 (CR=1.14 [95% CI 1.03-1.27]), inpatient £500 vs £294 (1.68 [1.22-2.31]), outpatient £398 vs £285 (1.29 [1.05-1.58]) and primary care prescriptions £334 vs £105 (2.69 [2.09-3.48]). There was no significant difference in ER costs between cases and controls.

CONCLUSIONS:

Patients with FXS had significantly higher number of contacts than controls in all healthcare settings. Healthcare costs were significantly greater for patients with FXS for GP, inpatient, outpatient and primary care prescriptions, whilst there was no significant difference in cost for ER.