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无证据表明躯体性快感缺失是双相情感障碍的候选症状或内表型。

No evidence for physical anhedonia as a candidate symptom or an endophenotype in bipolar affective disorder.

作者信息

Etain Bruno, Roy Isabelle, Henry Chantal, Rousseva Angela, Schürhoff Franck, Leboyer Marion, Bellivier Frank

机构信息

AP-HP, Hôpital Albert Chenevier, Département Hospitalo-Universitaire de Psychiatrie, Université Paris XII, France.

出版信息

Bipolar Disord. 2007 Nov;9(7):706-12. doi: 10.1111/j.1399-5618.2007.00413.x.

Abstract

OBJECTIVES

Bipolar affective disorder (BPAD) is clinically and genetically heterogeneous and the affected phenotype is poorly defined, hampering studies of its genetic basis. Studies of specific, familial, clinical indicators of BPAD may be useful for identifying heritable forms. Homogeneous forms of the disease may be identified in patients (candidate symptom approach) and some vulnerability markers may be sought in unaffected relatives of patients (intermediate traits or endophenotypes). Physical anhedonia (PA) is considered a possible candidate symptom and endophenotype in schizophrenia, but has never been specifically investigated in BPAD.

METHODS

Physical anhedonia scores (measured using Chapman's Physical Anhedonia Scale) were compared in 351 euthymic bipolar patients, 130 of their first-degree relatives and 170 healthy controls with no personal or familial history of schizophrenia, mood disorders or suicidal behavior. We investigated intrafamilial resemblance of PA and compared the progressive and clinical characteristics of hedonic and anhedonic bipolar probands.

RESULTS

Physical anhedonia was a stable trait in normothymic bipolar patients and significant intrafamilial correlation of PA scores was observed in bipolar families. However, PA scores were similar in unaffected relatives and controls and the clinical characteristics of anhedonic and hedonic patients did not differ significantly. Physical anhedonia was not associated with an increased familial risk for bipolar disorder.

CONCLUSIONS

Physical anhedonia is a stable, familial dimension in BPAD families. It cannot be considered an endophenotype because unaffected relatives of bipolar patients and healthy controls have similar PA scores. It also cannot be considered a candidate symptom because it does not identify a homogeneous clinical and familial sub-group of bipolar patients. Given the results of previous studies, PA might be a specific candidate symptom (and endophenotype) to schizophrenia. However, the validation of this hypothesis requires replication studies in bipolar disorder and schizophrenia and further investigations in other psychiatric diseases (in particular across the mood disorder spectrum).

摘要

目的

双相情感障碍(BPAD)在临床和遗传方面具有异质性,且受影响的表型定义不明确,这妨碍了对其遗传基础的研究。对BPAD特定的、家族性的临床指标进行研究可能有助于识别可遗传的形式。可在患者中识别出疾病的同质形式(候选症状方法),并在患者未受影响的亲属中寻找一些易感性标记(中间性状或内表型)。躯体性快感缺失(PA)被认为是精神分裂症中一种可能的候选症状和内表型,但从未在BPAD中进行过专门研究。

方法

比较了351名处于心境正常期的双相情感障碍患者、其中130名患者的一级亲属以及170名无精神分裂症、心境障碍或自杀行为个人或家族史的健康对照者的躯体性快感缺失得分(使用查普曼躯体性快感缺失量表进行测量)。我们研究了PA的家族内相似性,并比较了享乐型和快感缺失型双相情感障碍先证者的进展情况和临床特征。

结果

躯体性快感缺失在心境正常的双相情感障碍患者中是一个稳定的性状,在双相情感障碍家族中观察到PA得分存在显著的家族内相关性。然而,未受影响的亲属和对照者的PA得分相似,快感缺失型和享乐型患者的临床特征也没有显著差异。躯体性快感缺失与双相情感障碍家族风险增加无关。

结论

躯体性快感缺失是BPAD家族中一个稳定的家族维度。它不能被视为内表型,因为双相情感障碍患者未受影响的亲属和健康对照者的PA得分相似。它也不能被视为候选症状,因为它不能识别出双相情感障碍患者的一个同质临床和家族亚组。鉴于先前研究的结果,PA可能是精神分裂症的一种特定候选症状(和内表型)。然而,这一假设的验证需要在双相情感障碍和精神分裂症中进行重复研究,并在其他精神疾病(特别是在整个心境障碍谱系中)进行进一步调查。

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