A case study of the utilization of clozapine treatment for treatment‐resistant schizophrenia associated with 22q11.2 deletion syndrome

Abstract

Background The optimal treatment strategy for patients with treatment‐resistant schizophrenia (TRS) associated with 22q11.2 deletion syndrome (DS) remains a subject of debate. Case Presentation We present the case of a 40‐year‐old female patient diagnosed with TRS and 22q11.2DS who was effectively treated with clozapine. She was diagnosed with schizophrenia and mild intellectual disability during her adolescence; despite being hospitalized for a period of 10 years beginning in her 30s, she continued to exhibit symptoms of impulsivity, and explosive behavior, requiring periods of isolation. We ultimately decided to switch her medication to clozapine, which was administered with caution and gradually titrated upward, with no discernable adverse effects, resulting in a marked improvement in her symptoms and obviated the need for isolation. Subsequently, the patient's history of congenital heart disease and facial abnormalities prompted initial suspicions of a 22q11.2DS diagnosis, which was subsequently confirmed through genetic testing. Conclusion Clozapine may serve as an efficacious pharmacological intervention for TRS patients with 22q11.2DS, including those of Asian descent.

Efficacy and safety of clozapine in treatment-resistant psychotic patients with DiGeorge syndrome (22q11.2 deletion syndrome): a case series

“…No previous studies investigated suicide risk in patients with 22q11.2DS and data on resistant psychosis and on the clinical use of clozapine is still scarce, probably due to the difficulty of studying large sample of patients with 22q11.2DS. Only a few case reports and one retrospective study investigated the effectiveness and safety of clozapine in this population of patients (Gladston and Clarke, 2005; Ruhe et al , 2018; Accinni et al , 2021; Tsrue et al , 2023). Butcher et al .…”