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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. [ABSTRACT FROM AUTHOR]

Introduction: Infantile spasms (IS) is a rare and devastating form of early childhood epilepsy. Two drugs are approved in the United States for treatment of IS, H.P. Acthar ® Gel (repository corticotropin injection, RCI) and Sabril ® (vigabatrin). Given real-world variation in treatment of patients with IS, this study characterized treatment patterns with IS medications and determined all-cause health care resource utilization (HCRU) during the 90 days before initiating therapy with RCI in patients with IS., Materials and Methods: Truven Health MarketScan ® Research Databases were used to identify commercially insured US patients <2 years of age at RCI initiation with an IS diagnosis, per label use, from 1/1/07 to 12/31/15; presence of an electroencephalogram following diagnosis was required to assure diagnosis. Diagnosis codes and dispensed IS treatments of interest (drug classes including corticosteroids, vigabatrin, and other antiepileptic drugs [AEDs] excluding vigabatrin) before RCI initiation were evaluated., Results: The 5 most common diagnoses other than IS observed in the study cohort (n=422) were "other convulsions," "acute upper respiratory infection," "esophageal reflux," "epilepsy, unspecified," and "abnormal involuntary muscle movements." Among the study cohort, 51.7% received RCI first; 38.9% received 1 drug class and 9.5% received >1 drug class before RCI initiation. Other AEDs were dispensed most often, either alone (31.3%) or with other drug classes (9.3%). Mean HCRU included 11.8 all-cause outpatient visits and 4.5 medications dispensed. Patients who received RCI or corticosteroids as their initial IS treatment had the lowest and second-lowest HCRU., Conclusion: In the 90 days before initiating RCI, patients with IS received multiple diagnoses and treatments, characterized by frequent HCRU. Use of RCI first (no prior IS medications) and AEDs first were associated with the lowest and highest HCRU, respectively, across all categories (all-cause outpatient visits, emergency department visits, hospital admissions, prescription medications)., Competing Interests: Laura S. Gold has received salary funding from Mallinckrodt Pharmaceuticals to compensate her for the time spent to conduct this research. Tara Nazareth was an employee and stockholder of Mallinckrodt Pharmaceuticals at the time of this research. Tzy-Chyi Yu is an employee and stockholder of Mallinckrodt Pharmaceuticals. Keith R. Fry is an employee and stockholder of Mallinckrodt Pharmaceuticals. Nancy Ho Mahler is an employee and stockholder of Mallinckrodt Pharmaceuticals. Royce W. Waltrip II is an employee and stockholder of Mallinckrodt Pharmaceuticals. Ryan N. Hansen has received consulting fees from Mallinckrodt Pharmaceuticals. Andrew Rava was a student intern with Mallinckrodt at the time of this research. The authors report no other conflicts of interest in this work., (© 2019 Gold et al.)