Background

Several rare copy number variants have been identified to confer risk for neurodevelopmental disorders (NDD-CNVs), and increasingly NDD-CNVs are being identified in patients. There is a clinical need to understand the phenotypes of NDD-CNVs. However due to rarity of NDD-CNVs in the population, within individual countries there is a limited number of NDD-CNV carriers who can participate in research. The pan-european MINDDS (Maximizing Impact of Research in Neurodevelopmental Disorders) consortium was established in part to address this issue.

Methodology

A survey was developed to scope out the current landscape of NDD-CNV research across member countries of the MINDDS consortium, and to identify clinical cohorts with potential for future research.

Results

36 centres from across 16 countries completed the survey. We provide a list of centres who can be contacted for future collaborations. 3844 NDD-CNV carriers were identified across clinical and research centres spanning a range of medical specialties, including psychiatry, paediatrics, medical genetics. A broad range of phenotypic data was available; including medical history, developmental history, family history and anthropometric data. In 12/16 countries, over 75% of NDD-CNV carriers could be recontacted for future studies.

Conclusion

This survey has highlighted the potential within Europe for large multi-centre studies of NDD-CNV carriers, to improve knowledge of the complex relationship between NDD-CNV and clinical phenotype. The MINNDS consortium is in a position to facilitate collaboration, data-sharing and knowledge exchange on NDD-CNV phenotypes across Europe.

中文翻译：

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泛欧神经发育拷贝数变异研究概况：MINDDS 联盟的一项调查

背景

已经确定了几种罕见的拷贝数变异会增加神经发育障碍 (NDD-CNV) 的风险，并且越来越多的 NDD-CNV 在患者中被发现。临床需要了解 NDD-CNV 的表型。然而，由于人群中 NDD-CNV 的稀有性，在个别国家内，可以参与研究的 NDD-CNV 携带者数量有限。泛欧 MINDDS（最大化神经发育障碍研究的影响）联盟的成立部分是为了解决这个问题。

方法

开展了一项调查，以了解 MINDDS 联盟成员国 NDD-CNV 研究的当前情况，并确定具有未来研究潜力的临床队列。

结果

来自 16 个国家/地区的 36 个中心完成了调查。我们提供了一份可以联系以进行未来合作的中心列表。在跨越一系列医学专业的临床和研究中心发现了 3844 名 NDD-CNV 携带者，包括精神病学、儿科学、医学遗传学。可获得范围广泛的表型数据；包括病史、发育史、家族史和人体测量数据。在 12/16 个国家，超过 75% 的 NDD-CNV 携带者可以重新联系以进行未来研究。

结论

该调查强调了欧洲对 NDD-CNV 携带者进行大型多中心研究的潜力，以提高对 NDD-CNV 与临床表型之间复杂关系的认识。MINNDS 联盟能够促进整个欧洲关于 NDD-CNV 表型的合作、数据共享和知识交流。