极早发性精神分裂症伴强迫症:1例女性16p13.11重复

IF 0.5 4区 医学 Q4 PHARMACOLOGY & PHARMACY Psychiatry and Clinical Psychopharmacology Pub Date : 2024-11-28 DOI:10.5152/pcp.2024.24949
Kerim Kızıltan, Ebru Özbezen Kızıltan, Elif Yerlikaya Oral, Özlem Akgün Doğan, Melike Ersoy, Gül Karaçetin
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引用次数: 0

摘要

精神病是一种复杂的神经精神障碍,涉及感知和思维的中断,经常导致幻觉和妄想。诊断和治疗精神病可能具有挑战性,因为它与强迫症等疾病有重叠。最近的研究集中在确定精神疾病的遗传和生化标记,这有助于更好的诊断和治疗。精神分裂症是一种精神病,具有很强的遗传成分,因此家族史对诊断至关重要,尤其是在发病早的病例中。由于其定义的可变性,对早发性精神分裂症的研究是有限的。16p13.11染色体区域的拷贝数变异(CNV)与多种神经发育障碍有关,包括智力残疾、自闭症、癫痫、注意缺陷多动障碍和精神分裂症。16p13.11 CNVs与这些疾病之间的联系强调了遗传在神经发育障碍中的多方面作用。由于这些疾病通常共享共同的神经回路,影响一种疾病的遗传变异可能影响其他疾病。有非典型精神病表现和其他情况的患者应进行全面的评估,包括进一步的精神病学、神经影像学、遗传学和其他专门的诊断检查。采取多学科方法对于确定所有致病因素和制定有效的治疗计划至关重要。本病例报告讨论了一名患有早发性精神分裂症、强迫症状、智力残疾和16p13.11重复的12岁女性。它强调需要进一步的研究和综合的管理方法来治疗这种复杂和治疗难治性的病例,这可以为精神障碍的潜在病理生理学提供有价值的见解。
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Very Early-Onset Schizophrenia with Accompanying Obsessive-Compulsive Symptoms: A Case Report of a Female with 16p13.11 Duplication.

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.

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来源期刊
Psychiatry and Clinical Psychopharmacology
Psychiatry and Clinical Psychopharmacology Medicine-Psychiatry and Mental Health
CiteScore
1.00
自引率
14.30%
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0
期刊介绍: Psychiatry and Clinical Psychopharmacology aims to reach a national and international audience and will accept submissions from authors worldwide. It gives high priority to original studies of interest to clinicians and scientists in applied and basic neurosciences and related disciplines. Psychiatry and Clinical Psychopharmacology publishes high quality research targeted to specialists, residents and scientists in psychiatry, psychology, neurology, pharmacology, molecular biology, genetics, physiology, neurochemistry, and related sciences.
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