Kerim Kızıltan, Ebru Özbezen Kızıltan, Elif Yerlikaya Oral, Özlem Akgün Doğan, Melike Ersoy, Gül Karaçetin
Psychosis is a complicated neuropsychiatric disorder that involves disruptions in perception and thinking, often resulting in hallucinations and delusions. Diagnosing and treating psychosis can be challenging due to its overlap with conditions such as obsessive-compulsive disorder. Recent research has focused on identifying the genetic and biochemical markers of psychiatric disorders, which can aid in better diagnosis and treatment. Schizophrenia, a type of psychosis, has a strong genetic component, making family history crucial for diagnosis, especially in cases with early onset. Research on very early-onset schizophrenia is limited due to the variability in its definition. Copy number variations (CNV) in the 16p13.11 chromosomal region have been associated with various neurodevelopmental disorders, including intellectual disability, autism, epilepsy, attention deficit hyperactivity disorder, and schizophrenia. The link between 16p13.11 CNVs and these conditions underscores the multifaceted role of genetics in neurodevelopmental disorders. Since these disorders often share common neuronal circuits, genetic variations affecting one disorder can impact others. Patients with atypical manifestations of psychosis and additional conditions should have a comprehensive evaluation, including further psychiatric, neuroimaging, genetic, and other specialized diagnostic tests. Taking a multidisciplinary approach is crucial for identifying all contributing factors and developing an effective treatment plan. This case report discusses a twelve-year-old female with very early-onset schizophrenia, obsessivecompulsive symptoms, intellectual disability, and a 16p13.11 duplication. It emphasizes the need for further research and a comprehensive management approach for such complex and treatment-resistant cases, which can provide valuable insights into the underlying pathophysiology of psychotic disorders.
