Neuroimaging Phenotypes Associated With Risk and Resilience for Psychosis and Autism Spectrum Disorders in 22q11.2 Microdeletion Syndrome.
Neuroimaging Phenotypes Associated With Risk and Resilience for Psychosis and Autism Spectrum Disorders in 22q11.2 Microdeletion Syndrome.
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DOI：
10.1016/j.bpsc.2020.08.015
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发表时间：
2021-02
影响因子：
5.9
通讯作者：
Jalbrzikowski, Maria
中科院分区：
文献类型：
--
作者：
Jalbrzikowski, Maria
识别导致复杂神经精神障碍（如精神病和自闭症谱系障碍（ASD））发展的生物学风险因素是早期干预和发现的关键。此外，分析与这些神经精神综合征相关的生物学异质性将有助于我们了解精神症状发展的神经机制。22q11.2微缺失综合征（22q11 . ds）是由复发性基因突变引起的，它会显著增加患精神病和/或ASD的风险。在这篇综述中，我简要介绍了22q11DS，并讨论了用于评估该人群精神病和ASD的常见表型策略。然后，我总结了22q11.DS中与精神病和ASD相关的神经影像学表型。接下来，我将讨论该领域的挑战，并提供克服这些障碍的实用建议。最后，我对22q11DS风险和弹性研究的未来发展方向进行了讨论。
Identification of biological risk factors that contribute to the development of complex neuropsychiatric disorders such as psychosis and autism spectrum disorders (ASD) is key for early intervention and detection. Furthermore, parsing apart the biological heterogeneity associated with these neuropsychiatric syndromes will help us understand the neural mechanisms underlying psychiatric symptom development. 22q11.2 Microdeletion syndrome (22q11DS) is caused by a recurrent genetic mutation that carries significantly increased risk for developing psychosis and/or ASD. In this review, I provide an brief introduction to 22q11DS and discuss common phenotyping strategies that are used to assess psychosis and ASD in this population. I then summarize neuroimaging phenotypes associated with psychosis and ASD in 22q11.DS. Next, I discuss challenges within the field and provide practical suggestions to overcome these obstacles. Finally, I end the review with a discussion of future directions for moving 22q11DS risk and resilience research forward.
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