19/11/2018
The entity collaborates in the publication of a Medical Guide on the 22q13 Deletion Syndrome
The Sando Fundación has signed a collaboration agreement with the Phelan-McDermid Syndrome Association with which it will participate in the drafting and publication of a Medical Guide on the Phelan-McDermid Syndrome or 22q13 Deletion Syndrome aimed at making this rare disease known and promoting knowledge on it.
The Phelan-McDermid Syndrome, sometimes called 22q13 Deletion Syndrome, is an underdiagnosed genetic pathology caused by deletion of the chromosome 22 terminal end, i.e. by the genetic mutation of the DNA sequence, or a SHANK3 gene mutation. It can manifest itself through intellectual disability, absence of or delay in speech or through symptoms of Autism (Autism Spectrum Disorder).
The guide is intended primarily for specialists and health professionals, the patients and their families and society in general. Its contents will include the characteristics of the Phelan-McDermid Syndrome, a description of available diagnostic techniques, as well as the medical problems and recommendations for treating the most common symptoms of those affected.
The Sando Fundación wants to contribute with this initiative to support and to disseminate knowledge on rare diseases to shed light on the cases and to normalise the situation of patients and families. In this sense, the Phelan-McDermid Syndrome Association held at the end of September an international conference on the syndrome in the La Paz University Hospital in Madrid where the main advances on this disease were presented. Research is key to knowing the origin of the syndrome and finding clinical solutions.
It is planned to publish the guide during 2019 and it be accessible in the Phelan-McDermid Syndrome Association´s website, http://www.22q13.org.es.
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