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Clinimetric properties of Gourion Minor Physical Anomalies Scale. Internal consistency, construct and diagnostic validity in families with a schizophrenic relative and in healthy families.
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Prevalence and score of minor physical anomalies in patients with schizophrenia and their first degree relatives: a Tunisian study.精神分裂症患者及其一级亲属中小型身体异常的患病率和评分:一项突尼斯研究。
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Minor physical anomalies in patients with schizophrenia in a Chinese population.中国人群中精神分裂症患者的微小体貌异常。
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Biomarker profile of minor physical anomalies in schizophrenia patients.精神分裂症患者轻微躯体异常的生物标志物特征
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Neurodevelopment and schizophrenia: data on minor physical anomalies and structural brain imaging.神经发育与精神分裂症:关于轻微身体异常和大脑结构成像的数据
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Minor physical anomalies in patients with schizophrenia, unaffected first-degree relatives, and healthy controls: a meta-analysis.精神分裂症患者、未受影响的一级亲属和健康对照者的微小身体异常:荟萃分析。
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Minor physical anomalies and neurological soft signs in patients with schizophrenia and their siblings.精神分裂症患者及其兄弟姐妹的轻微身体异常和神经软体征。
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墨西哥完整核心家庭中轻微身体异常的研究。精神分裂症神经发育问题的证据。

Study of minor physical anomalies in complete nuclear Mexican families. Evidence of neurodevelopmental problems in schizophrenia.

作者信息

Ambrosio-Gallardo Félix, Cruz-Fuentes Carlos, Heinze-Martin Gerhard, Caraveo-Anduaga Jorge, Cortés-Sotres José

机构信息

Hospital Psiquiátrico Fray Bernardino Álvarez, Mexico City, Mexico.

Departamento de Genética, Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz, México City, Mexico.

出版信息

PLoS One. 2015 Jan 22;10(1):e0117080. doi: 10.1371/journal.pone.0117080. eCollection 2015.

DOI:10.1371/journal.pone.0117080
PMID:25612094
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4303412/
Abstract

INTRODUCTION

Minor physical anomalies (MPA) are dysmorphic features that reflect deviations in early development, are morphological variants that appear during the first trimester of pregnancy and could be used as a marker of disease risk in susceptible people. The literature agrees that the number of MPA is higher in patients with schizophrenia compared with their relatives and healthy subjects. The purpose of this study is to compare the MPA, assessed using the Gourion Scale, in complete nuclear families (families with a member with schizophrenia and control families) by determining the MPA mean, concordance and heritability for the total score on the MPA Gourion Scale for each anomaly.

METHOD

The sample consisted of 60 families with at least one schizophrenic patient (284 members) and 61 control families (249 members).

RESULTS

The mean total score for the scale was 5.72 ± 2.3 MPA in the case of families with at least one schizophrenic patient and 1.8 ± 4.46 MPA for control families. The average for families of patients without considering the patient in the analysis was 5.59 ± 2.3 MPA; for patients, the mean was 6.14 ± 2.4 MPA. In the analysis by anomaly differences were found only in eleven anomalies found no evidence of heritability or concordance.

CONCLUSIONS

MPA occur more frequently in patients, but a pattern of low consistency between them persists. It is concluded that MPA could be a marker of neurodevelopmental problems, but it is not suitable to consider them a Gourion scale as endophenotype.

摘要

引言

轻微身体异常(MPA)是反映早期发育偏差的畸形特征,是在妊娠头三个月出现的形态学变异,可作为易感人群疾病风险的标志物。文献一致认为,与亲属和健康受试者相比,精神分裂症患者的MPA数量更多。本研究的目的是通过确定每个异常的MPA古里翁量表总分的平均值、一致性和遗传性,比较使用古里翁量表评估的完全核心家庭(有精神分裂症患者的家庭和对照家庭)中的MPA。

方法

样本包括60个至少有一名精神分裂症患者的家庭(284名成员)和61个对照家庭(249名成员)。

结果

至少有一名精神分裂症患者的家庭中,量表的平均总分是5.72±2.3个MPA,对照家庭为1.8±4.46个MPA。不考虑分析中的患者时,患者家庭的平均值为5.59±2.3个MPA;患者的平均值为6.14±2.4个MPA。在按异常进行的分析中,仅在11种异常中发现差异,未发现遗传性或一致性证据。

结论

MPA在患者中更频繁出现,但它们之间的低一致性模式仍然存在。得出的结论是,MPA可能是神经发育问题的标志物,但不适合将其视为古里翁量表的内表型。