Background

'3q29 deletion syndrome,' a rare genetic disorder characterized by the deletion of a specific region (3q29) on the long arm of chromosome 3 in the human genome, causes developmental delays and intellectual disabilities. Patients with this syndrome have a significantly increased risk of developing schizophrenia, more than 40 times higher than the general population. Furthermore, due to the genetic origin of the disorder, they are highly likely to develop 'treatment-resistant schizophrenia (TRS),' which does not respond to medication.

In clinical practice, various antipsychotic drugs, including clozapine, are typically prescribed to manage symptoms. However, due to the patients' genetic characteristics, the efficacy of these drugs is often limited, or treatment is discontinued due to side effects. Consequently, these patients, trapped in a cycle of ineffective medications, often experience cognitive decline, chronic hallucinations, and social isolation. What alternative treatment options are available for patients with genetic schizophrenia who are unresponsive to medication? The medical community has begun to focus on physical brain stimulation techniques as a potential solution to this challenge.

Key Findings

A recent case report published in the medical journal 'The Lancet' presents the clinical progress achieved by applying twice-weekly electroconvulsive therapy (ECT) to a patient with 3q29 microdeletion and treatment-resistant schizophrenia. In this patient, for whom multiple pharmacological treatments had been ineffective, physical brain stimulation resulted in a reversal of abnormal neural activity.

As the treatment sessions continued, the patient's hallucinations and delusions decreased, and catatonic symptoms also showed significant improvement. The schizophrenia assessment scale scores, measured by the medical team, decreased significantly compared to pre-treatment levels, indicating signs of cognitive function recovery. What was the extent of side effects, such as brain dysfunction or cognitive impairment, experienced by the patient? The twice-weekly treatment ensured that the brain had sufficient time to recover, thereby preventing side effects such as short-term memory loss and ensuring safety.

Significance and Prospects

This clinical result suggests the potential of precision psychiatry, which is based on genomic information, in treating psychiatric disorders in patients with rare genetic diseases. By identifying the patient's genetic variations in advance and combining them with personalized physical stimulation therapy, can we break the cycle of unnecessary medication changes and consider ECT as a more proactive option early in the treatment process? The academic community has initiated a serious discussion about the possibility of early intervention based on this case.

However, this study is limited by its reliance on a single patient case, so a larger-scale clinical trial involving more patients is needed to verify the generalizability of the treatment. Furthermore, institutional support should be provided to address the social stigma associated with brain stimulation and to reduce the financial burden of hospitalization and anesthesia associated with the procedure.