Gómez Taylor Bárbara, Moreno Sancho Mari Luz, Drehmer Rieger Eraci, Carrera Juliá Sandra, Nevado Julián, Sempere Ferre Francisca
Facultad de Medicina y Ciencias de la Salud. Universidad Católica de Valencia San Vicente Mártir. Valencia. España.
Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ. Hospital Universitario la Paz. Madrid. España.
Rev Esp Salud Publica. 2020 Dec 21;94:e202012121.
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.
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.
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 4x10/10,000 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.
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.
费伦-麦克德米德综合征是一种罕见的遗传性疾病，由22号染色体13.3区域末端的缺失以及SHANK3基因内的点突变引起。本研究的目的是确定该疾病在西班牙人群中的患病率，确定该综合征在不同自治区的地理分布，阐明受影响患者较多的年龄范围，研究疾病与性别的关系以及诊断年龄。
在本研究中，招募了在西班牙全境被诊断患有该疾病达12年的患者。通过两份标准化问卷从转诊医生处获取临床患者信息，问卷填写的数据来自医疗报告以及与家长的访谈。使用不同形式的微阵列进行疾病的分子诊断。数据使用Microsoft Excel和Statgraphics Centurion XVII进行处理。
目前在西班牙有201人被诊断患有该疾病。目前在西班牙有201人被诊断患有该疾病，其患病率为4×10/10000居民。确诊患者最多的社区是马德里，在性别与疾病方面没有显著差异，诊断时的平均年龄约为6.67岁。
该疾病在西班牙的患病率非常低，可以说人群中很可能还有更多患有这种综合征的人。
