Immunogenomic Analyses of Pediatric Catatonia

Overview

Rady Children's Institute for Genomic Medicine seeks to understand the genomes and immune systems in 40 children and adolescents who are admitted to Rady Children's Hospital San Diego with a catatonia diagnosis. Cutting-edge genome and protein sequencing technology will be used to better understand how immunological and genetic assessments may improve the ability to identify the cause of catatonia and impact care. The investigator also hopes to identify new genetic and/or autoimmune causes of catatonia that may inform new treatment for future patients.

Catatonia is a complex condition that affects children's behavior, movement, and emotions. It can be caused by various underlying health issues, such as genetic disorders or problems with the immune system. Identifying these underlying causes is crucial for providing the best care and treatment to affected children. In this study, the investigators aim to compare the effectiveness of traditional medical tests with a more advanced approach that includes genetic testing and immune system screening in finding the underlying causes of catatonia in children. The investigators will compare two groups of children with catatonia. One group will be identified from hospital records and will have undergone standard medical tests to find the cause of their catatonia. The other group will be a new set of patients who will receive both standard medical tests and additional advanced testing, including genome sequencing (a technique that reads the entire genetic code) and screening for antibodies that attack the brain. The investigators will use a statistical method called propensity score matching to make sure that the two groups are as similar as possible in terms of age, sex, and other relevant factors. This will help the investigators to fairly compare the effectiveness of the two approaches in identifying the underlying causes of catatonia. The investigators expect that combining standard medical tests with genome sequencing and autoantibody screening will be more effective in finding the underlying causes of catatonia in children compared to using standard medical tests alone. This could lead to more accurate diagnoses and more targeted treatments for children with catatonia, helping them to recover more quickly and improving their quality of life. If this study shows that the advanced testing approach is more effective in finding the underlying causes of catatonia, this could change the way doctors approach the diagnosis and treatment of this complex condition. In turn, this could lead to more accurate diagnoses, tailored treatments, and improved outcomes for children with catatonia and their families.

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