Olfactory and facial markers of developmental risk for psychosis in 22q11 deletion syndrome
22q11 缺失综合征精神病发育风险的嗅觉和面部标记
基本信息
- 批准号:10023944
- 负责人:
- 金额:$ 74.04万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2019
- 资助国家:美国
- 起止时间:2019-09-24 至 2024-07-31
- 项目状态:已结题
- 来源:
- 关键词:22q11.23-DimensionalAcoustic RhinometryBehavioralBiometryBody partBrain regionCharacteristicsClassificationClinicalCraniofacial AbnormalitiesDataDevelopmentDiGeorge SyndromeDiffuseDimensionsDistressDysmorphologyEarEtiologyEventExhibitsEyeFaceFunctional disorderGenetic DiseasesGenetic RiskGeometryHeadImageImpaired cognitionImpairmentIndividualLeadMachine LearningMagnetic Resonance ImagingMandibleMeasuresMedialMental disordersMinorModelingMorphologyNasal cavityNeurobiologyNoseOdorsOlfactory CortexOlfactory PathwaysOral cavityPatientsPerformancePeripheralPhenotypeProcessPsychiatryPsychophysicsPsychotic DisordersPublic HealthResearchRiskSamplingSchizophreniaSeveritiesSmell PerceptionSocietiesStructural defectStructureSymptomsSyndromeTechniquesTemporal LobeTestingThree-Dimensional ImagingWorkYouthassociated symptombasebehavior measurementbrain dysfunctionclinically relevantcohortcosteffective therapyfunctional outcomesgenetic disorder diagnosishigh riskimprovedinnovationmachine learning algorithmmicrodeletionmultilevel analysisneurodevelopmentneuromechanismneuropathologyolfactory bulbolfactory sulcusprecision medicinepsychotic symptomsresiliencetrait
项目摘要
Project Summary: 22q11.2 deletion syndrome (22q11DS) is associated with an increased risk for psychiatric
disorders, including psychosis with similar symptoms to individuals with idiopathic schizophrenia (SZ), and
about 1-2% of cases of idiopathic SZ have 22q11.2 deletions. Thus, targeted approaches detailing specific
brain dysfunction in 22q11DS may elucidate critical neural mechanisms in psychosis. Specifically, approaches
that capture abnormalities common to individuals at-risk for psychosis and with a genetic risk to psychosis,
such as 22q11DS, may help explain risk and resilience for psychosis. Minor physical anomalies (MPAs) are
phenotypic abnormalities of aberrant development. MPAs include subtle abnormalities of morphological
structures encompassing numerous body parts including eyes, ears, mouth and head. Abnormalities of the
face and head likely represent a disruption of early embryologic development, including the olfactory system
and facial morphology, making these promising entry points for understanding neurodevelopmental
neuropathology associated with 22q11DS and psychosis In this study, we seek to compare 1) measures of
olfactory function; 2) structural abnormalities of the olfactory system and 3) structural abnormalities of the face
in a large cohort of patients with 22q11DS (n=100), including those with and without psychosis, to typically
developing (TD) individual. Finally, we will employ machine learning algorithms to select features that best
differentiate 22q11DS+ from 22q11DS- and use those features to classify individual with idiopathic risk for
psychosis (PS). In addition, analyses will leverage recent advances in machine learning to predict salient
features associated with dimensional measures of psychosis. We believe this innovative approach can
significantly advance our understanding of the etiology of psychosis and provide advances to precision
medicine in psychiatry. Through the proposed multi-level analysis, this innovative research will provide a
substantial advance in our understanding of the neurodevelopmental substrates of psychosis.
22q11.2缺失综合征(22 q11 DS)与精神疾病风险增加相关
疾病,包括与特发性精神分裂症(SZ)患者症状相似的精神病,以及
约1-2%的特发性SZ病例具有22q11.2缺失。因此,有针对性的方法详细说明了具体的
22 q11 DS的脑功能障碍可能阐明精神病的关键神经机制。具体而言,方法
这些异常是精神病高危人群和具有精神病遗传风险的人群所共有的,
例如22 q11 DS,可能有助于解释精神病的风险和恢复力。轻微物理异常(MPA)
异常发育的表型异常。MPA包括细微的形态异常,
包括眼睛、耳朵、嘴和头部在内的许多身体部位的结构。的异常
面部和头部可能代表了早期胚胎发育的中断,包括嗅觉系统
和面部形态学,使这些有希望的切入点,了解神经发育
与22 q11 DS和精神病相关的神经病理学在这项研究中,我们试图比较:1)
嗅觉功能; 2)嗅觉系统的结构异常和3)面部的结构异常
在一个大型22 q11 DS患者队列(n=100)中,包括有和无精神病的患者,
个体发展(TD)。最后,我们将采用机器学习算法来选择最适合的特征,
区分22 q11 DS+和22 q11 DS-,并使用这些特征对具有特发性风险的个体进行分类,
精神病(PS)。此外,分析将利用机器学习的最新进展来预测突出的
与精神病的维度测量相关的特征。我们相信这种创新的方法可以
显着推进我们对精神病病因学的理解,并提供精确的进展,
精神病学中的医学通过多层次的分析,本创新性研究将提供一个
我们对精神病的神经发育基础的理解有了实质性的进展。
项目成果
期刊论文数量(0)
专著数量(0)
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会议论文数量(0)
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{{ truncateString('PAUL J MOBERG', 18)}}的其他基金
Aberrant Paranasal Sinus Development in Schizophrenia
精神分裂症鼻旁窦异常发育
- 批准号:
9016720 - 财政年份:2015
- 资助金额:
$ 74.04万 - 项目类别:
Aberrant Paranasal Sinus Development in Schizophrenia
精神分裂症鼻旁窦异常发育
- 批准号:
9150659 - 财政年份:2015
- 资助金额:
$ 74.04万 - 项目类别:
Olfactory Function in Schizophrenia: A Lifespan Analysis
精神分裂症的嗅觉功能:寿命分析
- 批准号:
7822568 - 财政年份:2009
- 资助金额:
$ 74.04万 - 项目类别:
OLFACTORY FUNCTION IN SCHIZOPHRENIA: A LIFESPAN ANALYSIS
精神分裂症的嗅觉功能:寿命分析
- 批准号:
7199062 - 财政年份:2004
- 资助金额:
$ 74.04万 - 项目类别:
Olfactory Function in Schizophrenia: A Lifespan Analysis
精神分裂症的嗅觉功能:寿命分析
- 批准号:
7039614 - 财政年份:2003
- 资助金额:
$ 74.04万 - 项目类别:
Olfactory Function in Schizophrenia: A Lifespan Analysis
精神分裂症的嗅觉功能:寿命分析
- 批准号:
8225178 - 财政年份:2001
- 资助金额:
$ 74.04万 - 项目类别:
Olfactory Function in Schizophrenia: A Lifespan Analysis
精神分裂症的嗅觉功能:寿命分析
- 批准号:
6986171 - 财政年份:2001
- 资助金额:
$ 74.04万 - 项目类别:
Olfactory Function in Schizophrenia: A Lifespan Analysis
精神分裂症的嗅觉功能:寿命分析
- 批准号:
6434977 - 财政年份:2001
- 资助金额:
$ 74.04万 - 项目类别:
Olfactory Function in Schizophrenia: A Lifespan Analysis
精神分裂症的嗅觉功能:寿命分析
- 批准号:
6827422 - 财政年份:2001
- 资助金额:
$ 74.04万 - 项目类别:
Olfactory Function in Schizophrenia: A Lifespan Analysis
精神分裂症的嗅觉功能:寿命分析
- 批准号:
7579052 - 财政年份:2001
- 资助金额:
$ 74.04万 - 项目类别:
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