Chromosomal microarray analysis is an important diagnostic tool to identify copy number variations (CNV). Some of the CNVs affect susceptibility regions, which means that deletions or duplications in these regions have partial penetrance and often give an increased risk for a spectrum of neurocognitive disorders. Not much is known about the impact of rare CNV susceptibility syndromes on the life of patients or their parents. In this study, we focus on one specific susceptibility CNV disorder, 16p11.2 deletion syndrome. This rare condition is characterised by an increased risk of mild intellectual disability, autism spectrum disorder, epilepsy, and obesity. We aimed to explore the impact of such a disorder on the family members involved in the daily care of children with this syndrome. Three focus group discussions were held with 23 Dutch (grand)parents. Thematic analysis was performed by two independent researchers. The following five themes emerged: (1) the end of a diagnostic odyssey and response to the diagnosis, (2) after the diagnosis-life with a child with 16p11.2 deletion syndrome, (3) access to medical care and support services, (4) nobody knows what 16p11.2 deletion syndrome is, and (5) future perspective-ideal care. The participants experienced a lack of knowledge among involved professionals. Together with the large variability of the syndrome, this led to fragmented care and unfulfilled needs regarding healthcare, social, and/or educational assistance. Care for children with a CNV susceptibility syndrome could be improved by a multidisciplinary approach or central healthcare professional, providing education and information for all involved professionals.

中文翻译：

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谁听说过16p11.2缺失综合征？父母对易感性拷贝数变异综合症的看法。

染色体微阵列分析是识别拷贝数变异（CNV）的重要诊断工具。一些CNV影响易感性区域，这意味着这些区域中的缺失或重复具有部分渗透性，并常常增加一系列神经认知障碍的风险。关于罕见的CNV易感综合征对患者或其父母的生活的影响知之甚少。在这项研究中，我们专注于一种特定的CNV易感性疾病16p11.2缺失综合征。这种罕见病的特征是轻度智力障碍，自闭症谱系障碍，癫痫和肥胖的风险增加。我们旨在探讨这种疾病对患有该综合征儿童日常护理的家庭成员的影响。与23个荷兰（祖父母）父母进行了三场焦点小组讨论。主题分析由两名独立研究人员进行。出现了以下五个主题：（1）诊断性征兆的结束和对诊断的响应；（2）在诊断出患有16p11.2缺失综合征的孩子的生命之后；（3）获得医疗和支持服务； （4）没有人知道16p11.2缺失综合征是什么，以及（5）未来的理想角度护理。参与者感到参与的专业人士缺乏知识。再加上该综合症的多变性，导致医疗保健，社会和/或教育援助的零散护理和未满足的需求。可以通过多学科方法或中央医疗保健专业人员来改善对CNV易感综合征儿童的护理，