Defining Clinical and Economic Characteristics Among Male Patients with Rett Syndrome

According to T. Davis, PhD, very few studies have been conducted to describe the clinical and economic characteristics of male patients who develop Rett syndrome (Rett), given that the disorder is primarily seen in females. Dr. Davis and colleagues reviewed study data and pharmacy claims to identify male patients with Rett, wherein they observed that individuals diagnosed with Rett required significant care from physicians and health professionals.

Their study’s poster, awarded a silver medal during its professional review at AMCP 2022, also reported that “Rett individuals are often misdiagnosed with convulsions and cerebral palsy, among others,” a finding which further defined the health care service utilization of this patient population.

The researchers identified 702 cases of males with Rett, among which 35 patients met the study’s eligibility criteria of >2 outpatients or >1 inpatient Rett claims. The 35 subjects were indexed at their first Rett diagnosis date and grouped according to age (<5 years; 5–10 years; >10 years). Non-Rett diagnoses in the 12 months leading up to indexing were noted and the subjects were followed in the following 12 months.

Among the patients, common pre-Rett diagnoses included convulsions (20.0%), cerebral palsy (17.1%), chromosomal abnormalities (14.3%), epilepsy (8.6%), and autism (8.6%); the most common comorbidities were epilepsy (37.1%), incontinence (25.7%), and dyspnea (20.0%); and the most common medications were anticonvulsants (28.6%) and anxiolytics (17.1%). The researchers also calculated that males with Rett averaged 6.7 and 4.1 office and outpatient visits per patient per year (PPPY), respectively. Furthermore, in patients with at least one, emergency and inpatient admissions were 2.2 and 4.5 PPPY, respectively. Lastly, physical, occupational, and speech therapy services were used by 8.5%, 20.0%, and 8.5% of the patients, respectively.

The authors performed the analysis to improve the understanding of this rare and often misdiagnosed disorder. In closing, they proposed that “early identification of patient characteristics and appropriate diagnosis will increase efficiency of care, improve outcomes, and could reduce unnecessary treatment and cost.”