Gould Syndrome Foundation, Cleveland, OH 44106, USA.
Gould Syndrome Foundation, Cleveland, OH 44106, USA.
Epilepsy Behav. 2021 Dec;125:108365. doi: 10.1016/j.yebeh.2021.108365. Epub 2021 Nov 1.
Recently, patient advocacy groups started using the name Gould syndrome to describe clinical features of COL4A1 and COL4A2 mutations. Gould syndrome is increasingly identified in genetic screening panels, and because it is a rare disease, there is a disproportionate burden on families to understand the disease and chart the course for clinical care. Among the chief concerns for caregivers of children with Gould syndrome are the challenges faced because of epilepsy, including severe manifestations such as infantile spasms. To document the concerns of the patient population, the Gould Syndrome Foundation established the Gould Syndrome Global Registry (GSGR).
The Gould Syndrome Foundation developed questions for the GSGR with iterative input from patients and caregivers. An institutional review board issued an exemption determination before data collection began. Participants were recruited through social media and clinician referrals. All participants consented electronically, and the data were collected and managed using REDCap electronic data capture tools. De-identified data representing responses received between October 2019 and February 2021 were exported and analyzed with IBM SPSS 27 using descriptive statistics (mean, standard deviation, frequency, range, and percent).
Seventy families from twelve countries provided data for the registry, representing 100 affected people (40 adults and 60 children). This analysis represents a subanalysis of the 35 out of 60 children <=18 years of age who reported a history of seizures. Nearly half of these participants were diagnosed with infantile spasms. Participants with epilepsy frequently reported developmental delays (88.6%), stroke (60.0%), cerebral palsy (65.7%), and constipation (57.1%). Ten (28.6%) children use a feeding tube. Despite the fact that more than half of respondents reported stroke, only 34.3% reported ever receiving education on stroke recognition.
Here we describe the development and deployment of the first global registry for individuals and family members with Gould syndrome, caused by mutations in COL4A1 and COL4A2. It is important for pediatric neurologists to have access to resources to provide families upon diagnosis. Specifically, all families with Gould Syndrome must have access to infantile spasms awareness and stroke education materials. The Gould Syndrome Foundation is planning several improvements to this patient registry which will encourage collaboration and innovation for the benefit of people living with Gould syndrome.
最近，患者权益组织开始使用 Gould 综合征这一名称来描述 COL4A1 和 COL4A2 突变的临床特征。Gould 综合征在基因筛查组中越来越多地被发现，由于它是一种罕见疾病，因此家庭承担着了解疾病并为临床护理制定治疗方案的不成比例的负担。Gould 综合征患儿的主要关注点之一是癫痫带来的挑战，包括婴儿痉挛等严重表现。为了记录患者群体的关注点，Gould 综合征基金会建立了 Gould 综合征全球注册中心（GSGR）。
Gould 综合征基金会在患者和护理人员的迭代输入下为 GSGR 开发了问题。在开始收集数据之前，机构审查委员会发布了豁免决定。参与者通过社交媒体和临床医生推荐招募。所有参与者均通过电子方式同意，使用 REDCap 电子数据捕获工具收集和管理数据。2019 年 10 月至 2021 年 2 月期间收到的代表回复的数据被导出并使用 IBM SPSS 27 进行描述性统计分析（平均值、标准差、频率、范围和百分比）。
来自 12 个国家的 70 个家庭为该注册中心提供了数据，代表了 100 名受影响的人（40 名成年人和 60 名儿童）。这是对 60 名 18 岁以下报告有癫痫发作史的儿童中的 35 名的子分析。这些参与者中有近一半被诊断患有婴儿痉挛症。患有癫痫症的参与者经常报告发育迟缓（88.6%）、中风（60.0%）、脑瘫（65.7%）和便秘（57.1%）。10 名（28.6%）儿童使用喂养管。尽管超过一半的受访者报告中风，但只有 34.3%的人报告曾经接受过中风识别教育。
在这里，我们描述了第一个针对 COL4A1 和 COL4A2 突变引起的 Gould 综合征患者和家庭成员的全球注册中心的开发和部署。儿科神经科医生获得诊断后为家庭提供资源非常重要。具体来说，所有患有 Gould 综合征的家庭都必须能够获得婴儿痉挛症和中风的意识和教育材料。Gould 综合征基金会正在计划对该患者注册中心进行多项改进，以鼓励协作和创新，造福于患有 Gould 综合征的人。
