Clinical evaluation of patients with a neuropsychiatric risk copy number variant.
Clinical evaluation of patients with a neuropsychiatric risk copy number variant.
复制标题
具有神经精神风险拷贝数变异的患者的临床评价。
DOI：
10.1016/j.gde.2020.12.012
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发表时间：
2021-06
影响因子：
4
通讯作者：
Owen MJ
中科院分区：
文献类型：
--
作者：
Chawner SJ;Watson CJ;Owen MJ
几种拷贝数变异（CNVs）已被确定为一系列神经精神疾病的高风险。由于临床环境中基因检测的进步，越来越多的患者接受拷贝数变异基因组疾病的诊断。然而，关于评估和管理的临床指南是有限的。这篇综述综合了最近的研究，并对神经精神风险CNVs患者的临床评估提出了初步建议。我们建议在最初的转诊原因之外进行多系统评估，认识到协调多学科护理的潜在需求，并考虑到相关的多病性干预措施。CNVs患者在整个生命过程中的复杂需求给许多卫生保健系统带来了挑战，最好的办法可能是建立专科诊所。
Several copy number variants (CNVs) have been identified to confer high risk for a range of neuropsychiatric conditions. Because of advances in genetic testing within clinical settings, patients are increasingly receiving diagnoses of copy number variant genomic disorders. However, clinical guidelines surrounding assessment and management are limited. This review synthesises recent research and makes preliminary recommendations regarding the clinical evaluation of patients with neuropsychiatric risk CNVs. We recommend multi-system assessment beyond the initial referral reason, recognition of the potential need for co-ordinated multidisciplinary care, and that interventions take account of relevant multimorbidity. The frequently complex needs of patients with CNVs across the life-course pose challenges for many health care systems and may be best provided for by the establishment of specialist clinics.
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影响因子：
1.9
作者：
Bretelle, Florence;Beyer, Laura;Philip, Nicole
通讯作者：
Philip, Nicole
影响因子：
12.3
作者：
Doherty JL;Owen MJ
通讯作者：
Owen MJ
DOI：
10.1176/appi.ajp.2020.20010015
发表时间：
2021-01-01
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Chawner SJRA;Doherty JL;Anney RJL;Antshel KM;Bearden CE;Bernier R;Chung WK;Clements CC;Curran SR;Cuturilo G;Fiksinski AM;Gallagher L;Goin-Kochel RP;Gur RE;Hanson E;Jacquemont S;Kates WR;Kushan L;Maillard AM;McDonald-McGinn DM;Mihaljevic M;Miller JS;Moss H;Pejovic-Milovancevic M;Schultz RT;Green-Snyder L;Vorstman JA;Wenger TL;IMAGINE-ID Consortium;Hall J;Owen MJ;van den Bree MBM
通讯作者：
van den Bree MBM
影响因子：
3.2
作者：
Cheung EN;George SR;Costain GA;Andrade DM;Chow EW;Silversides CK;Bassett AS
通讯作者：
Bassett AS
影响因子：
8.8
作者：
Dolcetti, Alessia;Silversides, Candice K.;Bassett, Anne S.
通讯作者：
Bassett, Anne S.