Identification and Treatment of Catatonia Presenting as Agitation and Self Injury in an Adolescent With Rett Syndrome

Catatonia is a complex psychomotor syndrome associated with several psychiatric disorders, including schizophrenia and autism. It is also associated with neurologic conditions such as encephalitis and epilepsy. Catatonia has also been described in genetic syndromes such as Down Syndrome. Catatonia presents with two main subtypes. Retarded catatonia is characterized by stupor, immobility, mutism, rigidity, and withdrawal, as well as negativism, posturing, and echolalia/echopraxia. Excited catatonia is primarily characterized by psychomotor agitation and occasionally self-injurious behaviors. Though the pathophysiology of catatonia remains poorly understood, treatment with benzodiazepines is effective in many cases, with electroconvulsive therapy indicated in cases of poor response. Rett syndrome is an X-linked neurodevelopmental disease associated with mutations in methyl-CpG-binding protein 2 and is characterized by regression of spoken language and purposeful hand skills, gait abnormalities, and stereotyped hand movements. Herein we describe a case of catatonia associated with Rett syndrome in a 17-year-old female. Her presentation was notable for hyperactivity, impulsive behaviors, agitation, self-injurious behaviors, and aggression. The patient had limited response to multiple medication trials. Initially she had a positive response to treatment with lorazepam, with later waning efficacy despite dose escalation. The patient was admitted to the inpatient psychiatry and completed an index course of 13 ECT treatments followed by maintenance ECT, completing 30 treatments in total. Treatment resulted in significant improvements in self-injurious behaviors, agitation, and overall engagement. In conclusion, catatonia should be considered in individuals with Rett syndrome who present with agitation and self-injury to aid in overall symptom improvement and outcome.