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一项针对患有普拉德-威利综合征且伴有精神病的人群以及因基因亚型而患精神病风险增加的人群的纵向随访研究。

A longitudinal follow-up study of people with Prader-Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype.

作者信息

Larson F V, Whittington J, Webb T, Holland A J

机构信息

Department of Psychiatry,University of Cambridge,UK.

University of Birmingham, Department of Cancer Sciences,UK.

出版信息

Psychol Med. 2014 Aug;44(11):2431-5. doi: 10.1017/S0033291713002961. Epub 2013 Dec 13.

Abstract

BACKGROUND

People with Prader-Willi syndrome (PWS), a genetically defined developmental disorder, are at increased risk of developing psychotic illness. This is particularly the case for those with a genetic subtype of PWS called maternal uniparental disomy (mUPD), where rates of psychosis are more than 60% by early adult life. Little is known about the long-term course of their disorder.

METHOD

Individuals who had had episodes of psychosis or were at increased risk of developing psychosis due to their genetic subtype and had taken part in a previous study were contacted. Ten people were untraceable or deceased, leaving a total of 38 potential participants. Of these, 28 agreed to take part in a follow-up interview or complete a questionnaire about their mental health and medication. This represented 20/35 (57.1%) people from the original study who had had psychosis and 8/13 (61.5%) people who were at risk due to their genetic subtype. They were thought to be representative of those groups as a whole based on IQ and number of episodes of psychosis.

RESULTS

Two individuals had had recurrent episodes of psychosis while all others remained well. There were no new-onset cases of psychosis in those at risk. Individuals with PWS remained on high levels of psychiatric medication throughout the follow-up period.

CONCLUSIONS

Recurrent episodes of psychosis may be rare in people with PWS once stability has been achieved in the management of their illness. We speculate that this may be due to the protective influence of medication.

摘要

背景

普拉德-威利综合征(PWS)是一种由基因决定的发育障碍,患有该疾病的人患精神病的风险增加。对于患有PWS的一种基因亚型即母源单亲二倍体(mUPD)的患者而言尤其如此,到成年早期时,他们的精神病发病率超过60%。关于他们这种疾病的长期病程知之甚少。

方法

联系了曾有过精神病发作或因其基因亚型而有患精神病风险增加且曾参与过一项先前研究的个体。有10人无法追踪或已去世,总共剩下38名潜在参与者。其中,28人同意参加后续访谈或填写一份关于其心理健康和用药情况的问卷。这代表了原研究中20/35(57.1%)有过精神病发作的人和8/13(61.5%)因其基因亚型而有风险的人。基于智商和精神病发作次数,他们被认为代表了整个这些群体。

结果

有两人出现过精神病复发,而其他所有人情况良好。有风险的人群中没有新的精神病发病病例。在整个随访期间,患有PWS的个体一直服用大量精神科药物。

结论

一旦对患有PWS的人的疾病管理实现稳定,精神病复发可能很少见。我们推测这可能是由于药物的保护作用。

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