Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome.
Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome.
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DOI：
10.1186/s11689-023-09476-y
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发表时间：
2023-02-20
影响因子：
4.9
通讯作者：
中科院分区：
文献类型：
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作者：
复发性基因剂量障碍会导致精神病理学的重大风险。然而，理解这种风险受到挑战经典诊断系统的复杂表现的阻碍。在这里，我们提出了一套通用的分析方法来解析这种临床复杂性，我们通过应用XYY综合征来说明。我们收集了64名XYY个体和60名XY对照的精神病理学的高维测量，以及XYY组中基于访谈的诊断数据。我们首次对XYY综合征的精神病发病率进行了全面的诊断描述，并展示了诊断发病率与功能、阈下症状和确定偏倚的关系。然后，我们在67个行为维度上绘制了行为脆弱性和弹性，然后借用网络科学的技术来解决这些维度的中尺度架构以及与可观察功能结果的联系。携带额外的Y染色体增加了各种精神病诊断的风险，具有临床影响力的阈下精神病学。神经发育障碍和情感障碍的发病率最高。低于25%的携带者没有任何诊断。67尺度的维度分析详细介绍了XYY中的精神病理学特征，该特征在确认偏差的控制下幸存下来，指定注意力和社会领域为最受影响的领域，并驳斥了XYY与暴力之间的污名化历史关联。网络建模将所有测量的症状量表压缩成8个模块，这些模块与认知能力、适应功能和护理人员压力有可分离的联系。集线器模块为整个症状网络提供高效的代理。本研究通过应用新的和可推广的分析方法分析神经遗传性疾病中的深层表型精神病学数据，解析XYY综合征的复杂行为表型。 在线版本包含补充材料，可通过10.1186/s11689-023-09476-y获得。
Recurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome. We gathered high-dimensional measures of psychopathology in 64 XYY individuals and 60 XY controls, plus additional interviewer-based diagnostic data in the XYY group. We provide the first comprehensive diagnostic description of psychiatric morbidity in XYY syndrome and show how diagnostic morbidity relates to functioning, subthreshold symptoms, and ascertainment bias. We then map behavioral vulnerabilities and resilience across 67 behavioral dimensions before borrowing techniques from network science to resolve the mesoscale architecture of these dimensions and links to observable functional outcomes. Carriage of an extra Y-chromosome increases risk for diverse psychiatric diagnoses, with clinically impactful subthreshold symptomatology. Highest rates are seen for neurodevelopmental and affective disorders. A lower bound of < 25% of carriers are free of any diagnosis. Dimensional analysis of 67 scales details the profile of psychopathology in XYY, which survives control for ascertainment bias, specifies attentional and social domains as the most impacted, and refutes stigmatizing historical associations between XYY and violence. Network modeling compresses all measured symptom scales into 8 modules with dissociable links to cognitive ability, adaptive function, and caregiver strain. Hub modules offer efficient proxies for the full symptom network. This study parses the complex behavioral phenotype of XYY syndrome by applying new and generalizable analytic approaches for analysis of deep-phenotypic psychiatric data in neurogenetic disorders. The online version contains supplementary material available at 10.1186/s11689-023-09476-y.
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影响因子：
3.6
作者：
Foa, EB;Huppert, JD;Salkovskis, PM
通讯作者：
Salkovskis, PM
DOI：
10.15585/mmwr.ss7010a1
发表时间：
2021-12-03
期刊：
Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002)
影响因子：
--
作者：
Shaw KA;Maenner MJ;Bakian AV;Bilder DA;Durkin MS;Furnier SM;Hughes MM;Patrick M;Pierce K;Salinas A;Shenouda J;Vehorn A;Warren Z;Zahorodny W;Constantino JN;DiRienzo M;Esler A;Fitzgerald RT;Grzybowski A;Hudson A;Spivey MH;Ali A;Andrews JG;Baroud T;Gutierrez J;Hallas L;Hall-Lande J;Hewitt A;Lee LC;Lopez M;Mancilla KC;McArthur D;Pettygrove S;Poynter JN;Schwenk YD;Washington A;Williams S;Cogswell ME
通讯作者：
Cogswell ME
影响因子：
6.8
作者：
Lee NR;Niu X;Zhang F;Clasen LS;Kozel BA;Smith ACM;Wallace GL;Raznahan A
通讯作者：
Raznahan A
影响因子：
3.9
作者：
Constantino, JN;Davis, SA;Reich, W
通讯作者：
Reich, W
影响因子：
8.8
作者：
Gregg, Anthony R.;Skotko, Brian G.;Watson, Michael S.
通讯作者：
Watson, Michael S.