[Prevalence of the Phelan-McDermid Syndrome in Spain.]

IF 0.9 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Revista Espanola De Salud Publica Pub Date : 2020-12-21
Bárbara Gómez Taylor, Mari Luz Moreno Sancho, Eraci Drehmer Rieger, Sandra Carrera Juliá, Julián Nevado, Francisca Sempere Ferre
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Abstract

Objective: Phelan-McDermid syndrome is a rare genetic condition caused by a deletion of the terminal end of chromosome 22 in the 13.3 region, as well as, by point mutations within SHANK3 gene. The aims of this research were to determine the prevalence of the disease in the Spanish population, to establish the geographical distribution of the syndrome among the different autonomous communities, to elucidate the age range that affects more patients, to study the disease-sex relationship, as well as the age at diagnosis.

Methods: For the research, patients diagnosed with the disease for twelve years were recruited throughout the Spanish territory. The clinical patient information was obtained from the referral doctors using two standardized questionnaires completed with data from the medical reports and the interview with the parents. The molecular diagnosis of the disease was carried out using different formats of microarrays. Data were processed using Microsoft Excel and Statgraphics Centurion XVII.

Results: Currently in Spain there are 201 people diagnosed with the disease. Currently in Spain there are 201 people diagnosed with the disease, its prevalence being 4x10-4/10,000 inhabitants. The community with the most diagnosed patients was Madrid and there were no significant differences in terms of sex and disease, the mean age at diagnosis was around 6.67 years.

Conclusions: The prevalence of the disease in Spain is very low, and it can be stated that it is very likely that there are more people with this syndrome in the population.

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[西班牙菲兰-麦克德米德综合征的发病率]
研究目的菲兰-麦克德米综合征是一种罕见的遗传病,由 22 号染色体末端 13.3 区域缺失以及 SHANK3 基因点突变引起。这项研究的目的是确定该病在西班牙人口中的发病率,确定该综合征在不同自治区的地理分布,阐明影响较多患者的年龄范围,研究疾病与性别的关系以及诊断时的年龄:研究在西班牙全境招募了十二年来被诊断患有该病的患者。临床患者信息由转诊医生通过两份标准化问卷调查获得,问卷中的数据来自医疗报告和与家长的访谈。使用不同格式的芯片对疾病进行了分子诊断。数据使用 Microsoft Excel 和 Statgraphics Centurion XVII 进行处理:目前,西班牙共有 201 人被确诊患有该病。目前,西班牙有 201 人被确诊患有此病,发病率为 4x10-4/10,000。马德里是确诊患者最多的社区,在性别和疾病方面没有明显差异,确诊时的平均年龄约为 6.67 岁:结论:该疾病在西班牙的发病率非常低,可以说人口中很可能有更多的人患有这种综合征。
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来源期刊
Revista Espanola De Salud Publica
Revista Espanola De Salud Publica PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH-
CiteScore
2.00
自引率
0.00%
发文量
106
审稿时长
12 weeks
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