Parc Taulí is a reference center in the diagnosis and treatment of patients with rare diseases in pediatric and adult age, offering a personalized multidisciplinary care model, which allows specific support for each patient and their families.
Since 2017, Parc Taulí has been a center of the XUEC (Network of Clinical Expertise Units) in some cognitive-behavioral disorders of genetic origin (Prader Willi syndrome, fragile X syndrome and Angelman syndrome) in pediatric age and now also in adults. It is because of this model of excellence that the Angelman Syndrome Unit has been recognized as the expert clinic in addressing Angelman Syndrome by the Angelman Syndrome Foundation (ASF).
This is a recognition of the comprehensive care that Parc Taulí offers to patients and families. This multidisciplinary team is made up of specialists in neuropediatrics, neurophysiology, neurodevelopmental psychology, molecular genetics, clinical genetics, genetic counseling, gastroenterology and nutrition, traumatology and ophthalmology, among others.
"This is the result of many years of working together with families, with the model of professionals such as Doctors Gabau, Guitart, Brun, Lorente and Dr Artigas, who established global care for pediatric patients with genetic cognitive-behavioral disorders, and gave us the impetus to reach an international network dedicated to Angelman syndrome.”, explains Dr. Ana Roche, neuropediatrician at Parc Taulí.
What is Angelman Syndrome?
It is a disorder of genetic origin considered a minority disease, which involves a delay in neurodevelopment, with intellectual disability and serious impairment of expressive language.
This disease is commonly characterized by muscular hypotonia, postnatal microcephaly, behavioral disorder with motor restlessness, hyperexcitability, appearance of happiness, fascination with water, balance disorders and tremor. Sleep disorders are common and more than 80% of this pediatric population presents with epilepsy before the age of five.
There is a prevalence of 1/12.000 to 1/20.000. And, Parc Taulí currently cares for approximately 140 people with this syndrome.
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