Abstract
Pathogenic gene variants are relatively common in patients with neurodevelopment disorders comorbid with catatonia. In this report, we describe diagnosis and the treatment of catatonia in a 16-year-old boy with a CACNA1A pathogenic variant (which is associated with deficit in neuronal communication and neurotransmitter release). This case describes an adolescent with a CACNA1A pathogenic variant and autism spectrum disorder who develops catatonia and was safely and successfully treated with bilateral electroconvulsive therapy (ECT). Additionally, we describe a unique presenting symptom of climbing behaviors that was contextualized as a symptom of catatonia and discuss psychopharmacological interventions. To monitor treatment response, we utilized observational data collected by a behavior analyst, as well as physician and parent report via Busch-Francis Catatonia Rating Scale and Catatonia Impact Scale respectively. All three reports showed significant improvement in catatonic symptoms following treatment with ECT. The overall aim is to improve the management of catatonia in rare genetic disorders, demonstrate effective use of ECT in cases with this pathogenic variant, and provide guidance to clinicians and hope for patients and families struggling with this comorbidity.