OBJECTIVES: Fragile X Syndrome (FXS) is a congenital condition that impacts cognition. We aimed to describe healthcare resource utilisation and costs for newly diagnosed FXS patients.

METHODS: This study was conducted in the Clinical Practice Research Datalink (CPRD) Aurum database linked to the Hospital Episode Statistics (HES) dataset between 01/04/2007 to 31/12/2020. Patients with ≥1 medical code indicative of FXS were selected if they had continuous primary care registration from their approximated birth date. Cases were matched 1:1 to controls on age, gender and primary care practice. Healthcare contacts and costs (UK 2019/20 prices) were summarised per patient year (PPY) 12 months before FXS diagnosis (prior) and from diagnosis to end of follow-up (subsequent). Generalized linear models (GLM) were used to compare the incidence rate ratio (IRR; Poisson) and the cost rate ratio (CRR; Gamma) between patients with FXS and controls.

RESULTS: 259 patients with FXS were matched to 259 controls. Mean age at diagnosis was 7.3 years (median 5.0) and 201 (77.6%) were male. Patients with FXS had significantly increased healthcare contacts than controls both before and after diagnosis. Rates before diagnosis were: primary care (6.66 ppy versus 3.77; IRR:1.65), inpatient (0.51 versus 0.15; IRR:3.43), outpatient (5.07 versus 0.80; IRR:6.35) and A&E (0.55 versus 0.30; IRR:1.82). Subsequent contacts were primary care (3.56 versus 2.36; IRR:1.37), inpatient (0.32 versus 0.12; IRR:2.77), outpatient (3.45 versus 1.17; IRR:2.82) and A&E (0.43 versus 0.31; IRR:1.29). Total costs prior to diagnosis were £1,649 vs £408, CRR:4.22. Subsequent to diagnosis, costs were £1,310 vs £422; CRR:3.19.

CONCLUSIONS: Direct healthcare costs for patients with FXS were over four-fold that of controls prior to diagnosis and over three-fold subsequently. Further research into these excesses may highlight potential cost-savings in the diagnosis odyssey for FXS patients.