Symptoms of Catatonia Observed in Down Syndrome Regressive Disorder: A Retrospective Analysis.

Abstract

Down Syndrome Regressive Disorder (DSRD) is a neuropsychiatric condition associated with severe symptomology and a negative impact on quality of life. DSRD frequently presents with catatonic symptoms. However, few studies have reported the specific catatonic symptoms that occur in DSRD. We conducted a retrospective analysis of medical records in a large health system in the southern United States to identify patients with diagnoses of DS with catatonic symptoms who presented for clinical care between 1/1/2018 and 12/1/2023. Patients were included in the study if they had a diagnosis of DSRD or met the criteria for DSRD using consensus guidelines on retrospective chart review, and catatonia as confirmed in clinical documentation and had a full Bush Francis Catatonia Rating Scale (BFCRS) documented at the time of initial catatonia diagnosis. A total of nine patients who met the criteria for DSRD and catatonia using the BFCRS were identified. The average age of patients at the time of DSRD diagnosis was 21.1years (SD = 13.87). The mean BFCRS score on initial evaluation was 17.3 (SD = 7.0) and the mean number of positive catatonia signs was 11.1 (SD = 1.5). Staring was present in all cases (n = 9, 100%), followed by mutism, grimacing, and rigidity (n = 7, 77.9%). In a sample of nine patients with DSRD, all patients were diagnosed with catatonia. Catatonia is severe if undiagnosed and untreated. Future research is needed to assess specific symptoms of catatonia in DSRD, and longitudinal outcomes to assess optimal means of treatment.