Prevalencia del síndrome de Phelan-Mcdermid en españa

espanolFundamentos: El Sindrome de Phelan-McDermid es una enfermedad poco frecuente de origen genetico causada por la delecion del extremo terminal del cromosoma 22 region q13.3 o por mutaciones puntuales que afectan al gen SHANK3. Los objetivos de este trabajo fueron determinar la prevalencia de la enfermedad en la poblacion espanola, establecer la distribucion geografica del sindrome entre las distintas comunidades autonomas, dilucidar el rango de edad en el que existen mas pacientes y estudiar la relacion enfermedad-sexo asi como la edad media al diagnostico. Metodos: Para la investigacion se reclutaron pacientes diagnosticados con la enfermedad durante doce anos en todo el territorio espanol. La informacion clinica de los pacientes se obtuvo de los medicos de referencia mediante dos cuestionarios estandarizados completados con datos de los informes medicos y la entrevista a los padres. El diagnostico molecular de la enfermedad se realizo utilizando diferentes formatos de microarrays. Los datos se trataron utilizando Microsoft Excel y Statgraphics Centurion XVII. Resultados: Actualmente en Espana existen 201 personas diagnosticadas con la enfermedad siendo su prevalencia de 4x10-4/10.000 habitantes. La comunidad con mas pacientes diagnosticados fue Madrid y no hubo diferencias significativas en cuanto al sexo y la enfermedad, la edad media al diagnostico se situa en torno a los 6,67 anos. Conclusiones: La prevalencia de la enfermedad en Espana es muy baja pudiendose afirmar que es muy probable que en la poblacion existan mas personas con este sindrome. EnglishBackground: 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.