title: Burden of illness among patients with fragile X syndrome (FXS): a Medicaid perspective.
abstract: BACKGROUND
  Fragile X syndrome (FXS) is an inherited intellectual disability that imposes a substantial clinical and humanistic burden on patients and caregivers. This study aimed to quantify the incremental burden of illness following FXS diagnosis in Medicaid populations.
  
  
  METHODS
  A retrospective matched-cohort study was conducted using FL, NJ, MO, IA, and KS Medicaid claims (1997-2012). Patients with FXS were matched 1:5 to a comparison group without FXS, based on age, gender, state, and continuous Medicaid coverage. Healthcare resource utilization and costs were compared among cohorts over 1 year following first diagnosis.
  
  
  RESULTS
  Overall, 697 patients with FXS were matched to 3485 non-FXS patients. Median age was 12.0 years; 82% were male. Newly diagnosed FXS patients were younger (median age: 7.0 years). During the follow-up, patients with FXS had significantly higher medication use, medical procedure use, medical specialist visits, and associated costs than the non-FXS comparison group. One-fourth of FXS patients filled prescriptions for stimulants, antipsychotics, or anticonvulsants; 25% of patients with FXS had speech and language therapy and 39% had physical therapy (versus 9%, 4% and 8%, respectively, for the comparison group). At least 44% of FXS patients visited a neurologist, cardiologist, otolaryngologist, or gastroenterologist; 92% of patients with FXS had an outpatient visit, 35% had an emergency room visit, and 34% used home services (compared to 31%-32%, 64%, 27%, and 10%, respectively, for the comparison group) (all p < 0.05). Patients with FXS had an incremental annual total healthcare cost of $33,409 (2012$) per person relative to the comparison group, while newly diagnosed FXS patients had incremental total annual healthcare costs of $17,617 (2012$) per person.
  
  
  CONCLUSIONS
  Both established and newly diagnosed FXS were associated with significantly increased use of multiple medications and medical services, and increased healthcare costs. Treatments that could help reduce this disease burden are urgently needed.
authors.affiliation: a a Novartis Pharmaceuticals Corporation , East Hanover , NJ , USA.
authors.forename: Tara
authors.initials: T
authors.lastname: Nazareth
authors.affiliation: b b Analysis Group Inc. , Boston , MA , USA.
authors.forename: Nanxin
authors.initials: N
authors.lastname: Li
authors.affiliation: b b Analysis Group Inc. , Boston , MA , USA.
authors.forename: Maryna
authors.initials: M
authors.lastname: Marynchenko
authors.affiliation: b b Analysis Group Inc. , Boston , MA , USA.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Zhou
authors.affiliation: b b Analysis Group Inc. , Boston , MA , USA.
authors.forename: Pooja
authors.initials: P
authors.lastname: Chopra
authors.affiliation: b b Analysis Group Inc. , Boston , MA , USA.
authors.forename: James
authors.initials: J
authors.lastname: Signorovitch
authors.affiliation: b b Analysis Group Inc. , Boston , MA , USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Wu
authors.affiliation: a a Novartis Pharmaceuticals Corporation , East Hanover , NJ , USA.
authors.forename: Saeed
authors.initials: S
authors.lastname: Ahmed
authors.affiliation: a a Novartis Pharmaceuticals Corporation , East Hanover , NJ , USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Marvel
authors.affiliation: a a Novartis Pharmaceuticals Corporation , East Hanover , NJ , USA.
authors.forename: Rahul
authors.initials: R
authors.lastname: Sasane
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D014150:Antipsychotic Agents / Q000627:therapeutic use; D017028:Caregivers; D016022:Case-Control Studies; D000697:Central Nervous System Stimulants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D005260:Female; D005600:Fragile X Syndrome / Q000191:economics*; D017048:Health Care Costs; D006801:Humans; D008297:Male; D008484:Medicaid; D008875:Middle Aged; D012189:Retrospective Studies; D014481:United States; D055815:Young Adult
chemical_list: D014150:Antipsychotic Agents; D000697:Central Nervous System Stimulants
keywords: Economic cost; Fragile X syndrome; Healthcare resource utilization; Medicaid