Presentation
The Catalan Health Service, within the framework of the Development and implementation of the model of care for minority diseases in Catalonia, has designated Parc Taulí as an expert center of the "Network of Clinical Expertise Units in Genetically Based Behavioral Cognitive Behavioral Disorders in Pediatric Age" (XUEC) being, Parc Taulí, the main coordinator in the process of caring for Angelman Syndrome.
Since the early 90's and with the identification of the deletion on the chromosome 15m 15q11q13 of maternal origin as responsible for Angelman Syndrome (SA), in the genetics laboratory of the Corporació Sanitària Parc Taulí were launched the techniques of study of molecular genetics of the syndrome under the coordination of Dra. Guitart becoming, in all respects, pioneers and references throughout Spain.
At the same time, the identification of the clinical phenotype of the syndrome as well as the approach of the affected patients, has been from its beginnings conformed by a team of professionals interested in the knowledge and the scientific diffusion of the pathology like the neuropediatrics Dr. J Artigas, clinical geneticist Dr. E. Gabau or psychologist C. Brun, who pushed for the creation of a functional unit of genetic-based behavioral cognitive disorders with a major implication in Angelman syndrome.
Over the years, diagnostic techniques in molecular genetics were perfected and updated, still remaining today as a reference center for their determination.
The Angelman Syndrome Unit is actively involved in refresher sessions for patients, families and professionals.
In 2008, under the direction of Dr. E. Gabau, a clinical guide was developed that contains the full description of the pathology and was disseminated through patient associations.
The Angelman Syndrome Unit of the Parc Taulí Health Corporation is made up of a multidisciplinary healthcare team with a wide range of work that, with a commitment to providing excellent healthcare support to patients and their families, advocates the involvement in the acquisition of new knowledge with projection in the scientific advances of the pathology. In this sense, several research projects have been carried out which have led to important successes in healthcare and in the scientific field.
* Nothing on this website is intended to be used for diagnosis or medical treatment. While we carefully review our content, we cannot guarantee or take responsibility for the medical accuracy of all published documents, nor can we assume any responsibility for the content of websites linked from ours.
About us
Case manager
- Núria Capdevila
Pediatrics
- Débora Coritza (Neuropediatrics)
- Ana Roche (Neuropediatrics)
- Carme Brun (Clinical Psychology)
- Ariadna Ramírez (Clinical Psychology)
Adult age
- Marta Rubio (Neurology)
- Gisela Ribera (Neurology)
Pediatrics and adulthood
- Carmen Manso (Clinical Genetics)
- Núria Capdevila (Genetic Advice)
- Núria Gimeno (Orthopaedics and Traumatology)
- Josep Visa (Ophthalmology)
Laboratory specialists
- Snows Baena
- Ana ruiz
Coordinator of the unit
Débora Coritza Itzep
Snows Baena
Information for patients
Disease information
Angelman's syndrome (AS) is a neurogenetic disorder that conditions a delay in neurodevelopment, severe intellectual disability (ID), with no or minimal expressive language. The clinical phenotype is usually characterized by postnatal microcephaly, behavioral disorder where a predominant hypermotor behavior, hyperexcitability, appearance of happiness, fascination with water, are also associated with altered muscle tone, balance and movement disorders. Sleep disorders are common and in more than 80% of cases epilepsy usually manifests before 3 years of age.
The estimated prevalence is 1 / 12.000 to 1 / 20.000. The mean age of diagnosis is around one year of age due to the progressive and nonspecific manifestation of the symptomatology.
Diagnostic guidance is performed based on agreed clinical criteria. Since Agelman's Syndrome is determined by a lack of expression of the ubiquitin proteinligase gene 3A (UBE3A) gene located in the maternal 15q11.2-q13 segment, diagnostic confirmation is made by molecular genetics testing but it is noteworthy that approximately 10% of cases with Angelman syndrome are still of unknown cause.
There are different genetic mechanisms that lead to the physical or functional loss of the gene conditioning a greater or lesser severity of the clinical phenotype being the interstitial deletion of the chromosome 15q11-q13 of maternal origin the most common, 75% of cases.
Patient and family associations
- Catalan Association of Angelman Syndrome: This e-mail address is being protected from robots spam.Necessites Javascript enabled to view it.
- Spanish Angelman Syndrome Association (ASA)
- Angelman Syndrome Foundation (ASF)
- Angleman syndrome Support Education Research
- ERDF - Spanish Federation of Rare Diseases
- FECAMM - Catalan Federation of Rare Diseases
- EURORDIS - European Federation of Rare Diseases
News and events
- Angelman Syndrome Professionals Day. On June 2, 2018, a Day of Professionals for Angelman Syndrome will take place in Parc Taulí. Go book the agenda! More details will be announced soon.
Information for professionals
Shared resources
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Shared resources
Collection of documents, guides, templates, diagrams and protocols of interest for other devices in the healthcare system.
Functional circuits
- Flowchart of the Angelman Unit Clinical Practice Model
- Flow chart of the model of care for Rare Diseases
Clinical practice guidelines
Templates and model documents
Inquiries
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Consulting between professionals
For any type of information or management contact l'Liaison Office.
Research and dissemination of knowledge
Below is the link to the Areas and Research Groups of the Rare Diseases Unit: enllaç
We provide you with links to major databases so you can find out what clinical trials are currently being conducted and where they are being conducted.
- Orphanet - The European portal for minority diseases
- REEC - Spanish Clinical Studies Registry
- Clinical Trials
- World Health Organization (International Clinical Trials)
Continuous training
• Sessions and clinical practices for medical and psychology students, Pediatricians and Specialists in Pediatrics in training.
Dissemination of knowledge
• Angelman Syndrome Refresher Conference for professionals and families.
Clinical trials
• Phase I, multicenter open-label study to investigate the safety, tolerability, pharmacokinetics, and pharmacodynamics of RO7248824 in patients with Angelman syndrome. - TANGELO.
• Multicenter prospective observational study of the Natural History of Patients with Angelman Syndrome in Spain. - FAST SPAIN.
Doctoral thesis:
• Behavioral phenotype in patients with Angelman Syndrome. Débora Itzep (in process)