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一名患有罕见8号染色体p23.1缺失的自闭症患者患精神分裂症的病例

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

作者信息

Pogue Ambria M, Agustines Davin

机构信息

Medicine, Western University of Health Sciences, Pomona, USA.

Psychiatry, Olive View-University of California Los Angeles Medical Center, Los Angeles, USA.

出版信息

Cureus. 2025 May 29;17(5):e85045. doi: 10.7759/cureus.85045. eCollection 2025 May.

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.

摘要

精神分裂症是一种复杂的疾病,受遗传和非遗传因素共同影响,这些因素促成了该疾病的发展。患有早期神经发育疾病的个体,如自闭症谱系障碍(ASD),在生命后期患精神疾病的风险可能更高。本病例描述了一名25岁左右的女性,有自闭症谱系障碍病史,在幼儿期因发育里程碑延迟和重大学业挑战而被诊断。当时的基因评估发现了8号染色体p23.1缺失,其他家庭成员未观察到,这与新发突变一致。尽管有此诊断,患者仍能够在特殊教育和部分主流课程相结合的情况下高中毕业。然而,在过去一年里,她出现了以被害妄想和行为失调为特征的进行性精神症状,导致住院接受精神科治疗,随后被诊断为精神分裂症。虽然尚不清楚这些精神症状是如何产生的,但归因于8号染色体p23.1缺失的神经发育延迟可能不仅在该患者精神分裂症的发展中起作用,而且在其严重程度方面也起作用。本病例展示了神经发育障碍和精神疾病的潜在影响,并强调了对患有多种神经精神疾病的个体进行长期监测的重要性。

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