BACKGROUND: Gastrointestinal (GI) comorbidities are common in Rett Syndrome (RTT), a neurodevelopmental disorder. As patients with RTT have complex medical histories, specific symptoms may not always be coded in the EHR. However, the confluence of coded diagnosis data, medication reconciliation and clinical progress notes might lead to a more representative rate of GI comorbidities.

OBJECTIVES: Calculate prevalence and types of GI comorbidities among individuals with RTT.

METHODS: Study data included EHR coded fields and clinical progress notes from Vanderbilt University Medical Center (VUMC). Eligible individuals had >1 encounter with an RTT diagnosis (ICD-10: F84.2) and were under 30 years old at the time of index (first RTT diagnosis). GI comorbidity (based on ICD-10, medications indicated for GI diagnoses, or GI symptoms in the clinical note) and utilization were measured during the 6-month pre-index and 12-month follow-up periods. Cases were grouped based on age at index. Chi-square tests were used to test statistical differences for the categorical variables.

RESULTS: Of the N=112 RTT cases, N=79 were met inclusion criteria. Most were female (83.5%), with mean age (SD) of 10.2yrs. ± 7.4yrs (median=7.8yrs). GI comorbidities were present for 61 (77.2%) cases (34 with a diagnosis code, 21 in the clinical note, and 6 with medication reconciliation). The most prevalent GI comorbidities were constipation (41.8%) dysphagia (36.7%) and GERD (27.8%). More of the 0-2 year-old group (100%) had at least one GI comorbidity compared to the older two groups (86.0% and 48.3% respectively) (p<.05). Dysphagia (85.7%) and constipation (46.5%) were the most prevalent among the 0-2 year-old and >2-10 year-old groups, while constipation (34.5%) and GERD (34.5%) were the most prevalent among the oldest age group.

CONCLUSIONS: GI comorbidities are prevalent among all age groups of patients with RTT; however, the most prevalent comorbidities differ according to age group.