Development of Schizophrenia in an Autistic Patient With a Rare Chromosome 8p23.1 Deletion

TL;DR

A young woman with autism and a rare genetic deletion developed schizophrenia, suggesting a link between neurodevelopmental and psychotic disorders.

Contribution

This case highlights a potential connection between a rare 8p23.1 deletion, autism, and later schizophrenia.

Findings

The patient had a de novo chromosome 8p23.1 deletion and was diagnosed with autism in childhood.

She later developed schizophrenia, suggesting the deletion may contribute to both neurodevelopmental and psychotic disorders.

The case emphasizes the need for long-term monitoring in individuals with multiple neuropsychiatric conditions.

Abstract

Schizophrenia is a complex disorder influenced by a combination of genetic and non-genetic factors that contribute to its development. Individuals with early neurodevelopmental conditions, such as autism spectrum disorder (ASD), may be at a higher risk for the manifestation of a psychotic disorder later in life. This case describes a female in her mid-20s with a history of ASD, diagnosed in early childhood following delays in developmental milestones and significant academic challenges. Genetic evaluation at that time identified a chromosome 8p23.1 deletion, which was not observed in other family members, consistent with a de novo mutation. Despite having this diagnosis, the patient was able to graduate from high school while being in a mix of special education and partial mainstream programs. However, over the past year, she developed progressive psychotic symptoms characterized by persecutory delusions and behavioral dysregulation, resulting in psychiatric hospitalization and a subsequent diagnosis of schizophrenia. While it is unclear what caused these psychotic symptoms to come about, the neurodevelopmental delays that are attributed to the chromosome 8p23.1 deletion may play a role in not only the development of schizophrenia in this patient but also the severity. This case demonstrates the potential implications of neurodevelopmental and psychotic disorders and highlights the importance of long-term monitoring in individuals with multiple neuropsychiatric conditions.