Presentation
The Catalan Health Service, within the framework of the program for the development and implementation of the model of care for minority diseases in Catalonia, has designated Parc Taulí as the expert center of the "Network of Clinical Expertise Units in Disorders Genetically Based Behavioral Cognitive in Pediatric Age "(XUEC) being, Parc Taulí, one of the main coordinators in the process of caring for Fragile X Syndrome.
Since the 90s and with the identification of the molecular cause of Fragile X Syndrome (SXF), professionals in Neuropediatrics, Neuropsychology, Clinical Genetics and Molecular Genetics have worked as a Functional Unit for Genetically Based Cognitive-Behavioral Disorders with special dedication to Fragile X Syndrome and they were with the first families of those affected who organized themselves as the Catalan Association of Fragile X Syndrome in 1995. Thus, the dissemination of knowledge of the SXF was promoted and the diagnosis of members at risk of transmitting the disorder to their offspring in addition to others affected within the same family.
Currently, the unit has a clinical team (Núria Capdevila as case manager, Dr. Roche of neuropediatrics, Dr. Lorena Joga of neuropsychology, Ariadna Ramírez, psychologist of neurodevelopment, and professionals in child psychiatry, adolescence and life adult, and other socio-health professionals) working with the support of the molecular and clinical genetics team. This makes it possible to apply relevant scientific findings to the daily clinic, combining research with direct care for the patient and his family.
The team of the SXF Unit participates in international congresses of Fragile X Syndrome, in days of updating the syndrome for professionals and families in the Parc Taulí and in the continuous training of Medical Degree students.
Formally constituted as an emerging group for research into minority diseases within the framework of the Parc Taulí Research and Innovation Institute (I3PT) in 2015, this Unit is one of the “Clinics” recognized by the FXCRC (Fragile X Clinical Research Consortium ) for the comprehensive management of SXF and FMR1 protein-related pathology.
The X-Fragile Syndrome Unit of the Corporació Sanitària Parc Taulí, is made up of a multidisciplinary group with a common work trajectory that makes this department a cohesive team of professionals with a long experience of care and clinical practice, with a predisposition to the acquisition of new knowledge and therapeutic techniques and with a special projection towards the applied research to the affected ones and their families.
Functionally, the unit has taken special care of the patient care model, finally obtaining a care model worked on and supervised jointly with the patient associations belonging to FEDER, EURORDIS and FECAMM, thus responding to the real needs of our patients.
* 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
- Ana Roche (Neuropediatrics)
- María Jesús García (Neuropediatrics)
- Lorena Joga (Neuropsychology)
- Carme Brun (Clinical Psychology)
- Ariadna Ramírez (Clinical Psychology)
- Silvia Teodoro (Cardiology)
- Jorge Palacios (Cardiology)
- Lara Magpie (Psychiatry)
- Susanna Pujol (Clinical Psychology)
Adult age
- Marta Rubio (Neurology)
- Marisol Matamoros (Clinical Psychology)
- Ramón Corones (Psychiatry)
Pediatrics and adulthood
- Carmen Manso (Clinical Genetics)
- Núria Capdevila (Genetic Advice)
- Núria Gimeno (Traumatology and Orthopedics)
Laboratory specialists
- Snows Baena
- Ana ruiz
Coordinator of the unit
Ana Roche Martinez
Information for patients
Disease information
Fragile X Syndrome (SXF) is a genetic-based cognitive-behavioral disorder categorized as a minority disease. It affects men and women with an X-linked inheritance and involves mild or moderate cognitive impairment, with a characteristic physical and behavioral phenotype. It is caused by the amplification of the CGG triplet of the promoter region of FMR1 (Xq27) above 200 repeats, which nullifies the function of the FMRP protein, repressor of numerous genes.
The physical phenotype includes an elongated facies, with a broad forehead and slightly large ears, with an increase in the flexibility of the affected joints. These traits, however, are less obvious to girls. Children's intellectual disability can be manifested as a delay in the acquisition of motor skills, social contact (sometimes overlapping with features of the autism-ASD spectrum) or a delay in the acquisition of language. For girls, the difficulties may be more subtle, and present themselves as learning difficulties at school age and social anxiety.
In general, there are certain problems associated with SXF, such as hyperactivity disorder and attention deficit (ADHD), language difficulties, hypersensitivity to stimuli, social anxiety, traits of ASD. Less common are epilepsy, mitral valve prolapse of the heart or vision and hearing problems.
Currently, although there is no curative treatment, many of the problems associated with SXF can be treated, symptomatically with medication and psychological support. That is why it is ideal to have a team of professionals who can monitor patients from the earliest stages of diagnosis and giving continuity during adulthood as guaranteed in the model of care offered by the Corporació Sanitària Parc Taulí.
- Unit information sheet and access routes
- Fact Sheet: Do you have a relative with Fragile X Syndrome?
- Fact Sheet: Fragile X Syndrome
- Orphanet - The European portal for minority diseases
- III Conference SXF Taulí - Triptych
- III Conference SXF Taulí - Flat feet and Scoliosis SXF
- III Conference SXF Taulí - SXF Epilepsy
- III Conference SXF Taulí - Experience in a center of excellence.
- III Conference SXF Taulí - MODIFICATION OF BEHAVIORAL PATTERNS
- III Conference SXF Taulí - Summary_Congreso_San Diego_2023
Patient and family associations
- Catalan Association of SXF
- Spanish Federation of SXF
- Fragile X Syndrome Foundation (FXSF, United States)
- ERDF - Spanish Federation of Rare Diseases
- FECAMM - Catalan Federation of Rare Diseases
- EURORDIS - European Federation of Rare Diseases
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 X-Fragile Unit Clinical Practice Model
- Flow chart of the model of care for Rare Diseases
Clinical practice guidelines
- X-Fragile Clinical Practice Guide: Parc Taulí
- Fragile X Syndrome: A Review of Associated Medical Problems
- Information on X-Fragile of the Spanish Association of Pediatrics
- Article in Clinical Medicine on Fragile X-Syndrome
- Information on X-Fragile in Medline Plus
- Information on X-Fragile at OMIM
- Information on X-Fragile in Orphanet
- Other national and international reference centers
- Catalan Association of SXF
- Spanish Federation of SXF
Templates and model documents
Current clinical trials
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Current clinical trials
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.
Inquiries
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Consultations between professionals
For any type of information or management contact the Liaison Office.
Research and dissemination of knowledge
Research project
- "Classification and determination of the typology and frequency of cardiological problems associated with patients with S. de X-Fragile." Dr. To Roche, Dr. S Theodoro and Dr. J Palacios
- "Update of the database of X-Fragile patients based on their genetic determination with new study techniques." Dr. To Roche
- DTI (connectoma-oriented tractography) in patients with fragile X (with or without autism -TEA) and patients with ASD at different ages. Comparison of the structure and function of neural connections. ” Dr. S Esteba
- Definition of the cognitive-behavioral phenotype in girls and adolescents with SXF.
- Relationship between sleep disorder in patients with SXF and ADHD, anxiety. Salivary cortisol and anxiety / stress level, before and after the intervention (ENT or CPAP).
- Response of patients with SXF and sleep disorder to use of deep stimulation blanket.
- Evaluation of sertraline as an IQ enhancer and verbal language level.
Continuous training
- Training of a team specialist at the MIND Institute in California, a fragile X expert center in the USA.
- Collaborations and stays in research groups in the USA, led by Dra. Hagerman and Dr. Hessl.
- Attendance 15th International Fragile X Conference, Texas 2016. Dra. To Ramírez and Dra. A Roche.
Dissemination of knowledge
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II Update Day on Fragile X Syndrome for professionals and families (26-01-2019).
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Bullying Victimization in Young Females with Fragile X Syndrome
- Participation in the IV International Congress of Fragile X Syndrome, Mataró 2015 organized by the Catalan Association of Fragile X Syndrome. Dra. And Gabau, Dra. A Roche and Dra. L Yoga
- Participation in the Day of X Fragile in Crosses 2016, organized by the Association Syndrome X Fragile of the Basque Country.
- Round table of S. X Fragile specialists for relatives of patients. Organized by Parc Taulí Hospital, November 2016. Dra. A Roche, Dra. Gabau
Clinical trials
- "Evaluation of sertraline as a booster of IQ and verbal language level." Dr. To Roche
PhD thesis
- "Fragile X-syndrome in girls and adolescents: description of the neurocognitive phenotype and its possible relationship with adaptive behavior" Dr. L Joga.
- "Modification of Behavioral Disorders in X-Fragile Patients" Dr. Mª J García.
- Novartis AFQ056 Study: "Randomized, double-blind, placebo-controlled study with parallel groups to evaluate the efficacy and safety of AFQ056 in adolescent patients with fragile X syndrome", from July 2012 to February 2015.