Gastrointestinal symptoms and healthcare utilization among individuals with Rett syndrome at a center of excellence

Rett syndrome (RTT) is commonly associated with gastrointestinal (GI) symptoms. This study estimated the prevalence of GI symptoms among RTT individuals using electronic health record (EHR) structured and unstructured data. A retrospective cohort study of individuals with RTT diagnosis and age under 30 years with GI symptoms were identified by diagnosis codes, clinical progress notes, and medications. Among individuals with RTT (N = 79), GI symptoms were present in 62 (78.5%). Symptoms were identified by EHR diagnoses (43.0%), clinical progress notes (26.6%), and GI medications (8.9%). Most prevalent GI symptoms were constipation (43.0%), dysphagia (36.7%), and gastroesophageal reflux disease (GERD) (29.1%). By accessing data abstracted from clinical progress notes and relevant medications, the prevalence of GI symptoms among individuals was increased by 30.4% above the coded diagnosis data. Supplementing real-world research with data from clinical progress notes provides a better understanding for RTT individuals with GI symptoms. Gastrointestinal (GI) symptoms are commonly reported in Rett syndrome, however, claims-based studies using diagnosis codes underestimate the prevalence of GI symptoms. This study of EHR-based data derived from Vanderbilt University Medical Center including clinical progress notes found that 79% of individuals with Rett syndrome suffered from GI symptoms. The most common GI symptoms in Rett syndrome were constipation (43.0%), dysphagia (36.7%), and GERD (29.1%). GI symptoms were identified by EHR diagnosis codes (43.0%), followed by clinician notes [excluding diagnosis codes] (21.7%), and GI-related medications (8.9%). Nausea/vomiting and GERD were the most frequent reason for inpatient admission at 4 admissions per patient per year. This study found that clinician notes and medication therapy identified an additional 30% of patients with GI symptoms versus coded diagnoses. <b>Background:</b> Rett syndrome (RTT) is a rare neurodevelopmental disorder and leading cause of intellectual disability in young girls. The prevalence of gastrointestinal (GI) symptoms in RTT from caregiver questionnaires or physician notes are greater than structured claims data alone. This study was a retrospective observation study estimating the prevalence of GI symptoms in RTT individuals based on electronic health record data (diagnosis codes and clinical progress notes) from Vanderbilt University Medical Center, a RTT Center of Excellence recognized by the International Rett Syndrome Foundation (IRSF). <b>Results:</b> Between 2014 and 2022, GI symptoms were present in 62 of 79 (78.5%) individuals with RTT. The most prevalent symptoms were constipation (43.0%), dysphagia (36.7%) and gastroesophageal reflux disease (GERD) (29.1%). Most GI symptoms were identified by EHR diagnosis codes (43.0%). An additional 30.4% of individuals were identified using data abstracted from clinical progress notes and GI-related medications. Nausea/vomiting and GERD were the most frequent reasons associated with inpatient admission. <b>Conclusions:</b> This study highlights the high prevalence of GI symptoms among individuals with RTT. The prevalence of GI symptoms found within EHR data were comparable to patient-reported questionnaire-based studies and greater than claims-based evaluations. Our study found that clinician notes and medication therapy identified an additional 30% of patients with GI symptoms versus coded diagnoses alone. Identifying uncoded symptomatology within unstructured clinician notes provides a better representation of real-world estimates of GI prevalence found in claims-based studies, which could be underestimated. Study of EHR data from VUMC shows 4 of 5 individuals with Rett have GI symptoms, similar to caregiver questionnaires. EHR-derived data increases the value of real-world evidence studies.