BACKGROUND: Rett syndrome (RTT) is a rare, neurodevelopmental disorder primarily affecting females¹ often resulting in early loss of acquired skills including hand use, walking, and verbal communication. Disorders of gastrointestinal (GI) motility such as gastroesophageal reflux disease (GERD) and constipation are common for individuals diagnosed with RTT. Few studies have examined the characteristics, clinical sequalae, medication and healthcare service utilization in response to GI comorbidities associated with RTT.

OBJECTIVES: To understand of the impact of GI comorbidities associated with RTT.

METHODS: Study data (2014-2022) comprised encounter, problem list and pharmacy tables from Vanderbilt University Medical Center (VUMC) E.H.R. Eligible individuals had >1 encounter with an RTT diagnosis and were under the age of 30 at index (date of first RTT Dx). The presence of comorbidities and service utilization were measured during the 6-month pre and 12-month post index periods. Chi-square and one-way ANOVA were used to test statistical differences for categorical and continuous variables respectively.

RESULTS: Of the N=112 RTT cases, N=79 were eligible for the 6-month pre and 12-month post index periods and met age criteria. Most were female (83.5%), with mean age (SD) of 10.2yrs. ± 7.4yrs (median age=7.8yrs). GI comorbidities were reported during encounters by 35.4% of cases during the follow-up period with dysphagia (20.3%) followed by constipation (13.9%); GERD (13.9%) were the most common reported for outpatient (OP) and GERD (5.1%) followed by dysphagia (3.8%) and constipation (2.5%) for IP services. The only GI diagnosis mentioned in an ED encounter during follow-up was constipation (2.5%).

CONCLUSIONS: GI related comorbidities are prevalent among RTT cases as reflected in the problem list, IP and OP encounters. GI issues appeared on a little over 1/3 of cases within 12 months of the first diagnosis of RTT on record; documented most frequently in OP visits and less frequently in IP or ED visits.