| Summary: | Judith H Miles,1,2 Nicole Takahashi,2 Julie Muckerman,2 Kerri P Nowell,2,3 Muaid Ithman4 1Department of Child Health, University of Missouri Healthcare, Columbia, MO, USA; 2Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri, Columbia, MO, USA; 3Department of Health Psychology, University of Missouri Healthcare, Columbia, MO, USA; 4Department of Psychiatry, University of Missouri Health Care, Columbia, MO, USACorrespondence: Judith H MilesThompson Center for Autism and Neurodevelopmental Disorders, 205 Portland Street, Columbia, MO 65211, USATel +1 573 884 6838Fax +1 573 884 1151Email milesjh@missouri.eduObjective: The goal is to expand our knowledge of catatonia occurring in adolescents and young adults with Down syndrome (DS) by describing the first prospective, consecutive, well-characterized cohort of seven young people with DS diagnosed with catatonia and treated between 2013 and 2018, and to assess each patient’s treatment responses. Longitudinal assessment of each patient’s response to treatment is intended to provide clinicians and psychiatrists a firm foundation from which assess treatment efficacy.Study design: Young adults with Down syndrome were consecutively enrolled in the study as they were diagnosed with catatonia. A comprehensive data set included medical, laboratory, developmental, demographic, family, social and genetic data, including query into disorders for which individuals with DS are at risk. Catatonia was diagnosed based on an unequivocal history of regression, positive Bush-Francis Catatonia Rating Scale and positive response to intravenous lorazepam. Patients’ longitudinal progress was monitored using the Catatonia Impact Scale (CIS) developed for this purpose.Results: Seven consecutive DS patients, who presented with unequivocal regression were diagnosed with catatonia and treated for 2.7–6 years using standard-of-care therapies; primarily GABA agonist, lorazepam, electroconvulsive therapy (ECT) and glutamate antagonists (dextromethorphan/quinidine, memantine, minocycline). Responses to each treatment modality were assessed at clinic visits and through weekly electronic CIS reports.Conclusion: Seven young adults with DS were diagnosed with catatonia; all responded to Lorazepam and/or ECT therapy with good to very good results. Though ECT most dramatically returned patients to baseline, symptoms often returned requiring additional ECT. Dextromethorphan/quinidine, not used until mid-2017, appeared to reduce the reoccurrence of symptoms following ECT. Though all seven patients improved significantly, each continues to require some form of treatment to maintain a good level of functioning. Findings of a significant number of autoimmune disorders and laboratory markers of immune activation in this population may guide new diagnostic and treatment opportunities.Keywords: lorazepam, electroconvulsive therapy, dextromethorphan/quinidine, benzodiazepines, Trisomy 21, Bush-Francis Catatonia Rating Scale
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