INDEX

• CONFERENCE HONORARY AND COMMITTEE MEMBERS

The Echevarne Foundation, is a non profit making private entity, whose main aims are of a scientific and educational nature . This trust was established in 1993 by Dr. Fernando Echevarne, founder and Managing Director of the "Laboratorio de análisis Dr. Echevarne", in honour and gratitude to the work and efforts of all those people who, day after day, have contributed to the development and achievements of the analytical and research fields, within the health/science sector

Registered as foundation number 698 at the local government registry, the Echevarne Foundation has participated actively, since it was set up, in the development of various important research and educational programmes.

The close and constant collaboration which exists between "Fundación Echevarne" and other entities, both public and private, has permitted this Foundation to carry out important research and educational programmes, the following being the main objectives:

Amongst the various activities the following should be noted.:

The Spanish Federation for Fragile X Associations was set up in order to guide, facilitate, counsel, promote research and collaborate in educational and scientific areas, for people, centres, entities or professionals involved in the study or care of Fragile X Syndrome.

Registered as number F-2124 in the Second Section of the National Registry of Associations, the Federation is composed of the following regional Associations:

The aims of the Federation are as follows:

• Counsel parents, professionals, national and international institutions Fragile X Syndrome.

The Fragile X Syndrome (SXF) is the most common hereditary cause of mental retardation.

It is estimated that 1 out of every 4000 boys and 1 out of 6000 girls in the general population is mentally retarded due to SXF and that 1 out of every 250 women is a healthy carrier, the second most frequent pathology of intellectual disability after Down Syndrome but, the first hereditary one.

The fragile X syndrome can only be inherited through the X chromosome (responsible for the sex of the person). Women are carriers and not affected if the FMR1 gene is mutated in only one of the two X chromosomes, because the mutation is compensated by the normal gene in the second X chromosome. However, 1/3 of the SXF carriers could suffer from a certain level of intellectual deficit. Women carriers have a 50% chance of having an affected son and the daughters normally would have 50% chance of being normal and 50% of being carriers. Normally men, as they only have one X chromosome, should this single X hold the mutation then they will have fragile X syndrome.

The clinical characteristics of FXS are shown by a series of physical and behavioural characteristics, more common in males than in females. The behavioural signs include mental retardation, learning problems, hyperactivity, attention and concentration deficit, little social communication, problems with speech and in some cases, autistic and auto-destructive behaviour. The physical features can vary and appear mainly on the face, extremities and genitalia, lack of sensitivity in the mouth area, articular hyperflexibility, visual and hearing deficiencies, problems with the breathing apparatus and heart, including in some cases epileptic fits.

The diagnosis of FXS is carried out by taking a small blood sample which will be analysed using molecular biology, techniques to study whether there is a mutation in the FMR1 gene of the X chromosome. This technique is valid both for those people affected by FXS and carriers.

At present, there is no cure for FXS, however it is very important for these children to receive special attention as of their first year of life. At this early stage, the children benefit greatly from speech therapy, behavioural modifications, sensory, stimulation, support classes, specialised education and pharmacological backup. Early diagnosis, together with the aforementioned psychological and educational support is crucial for the intellectual development, their future self sufficiency and for favourable social integration.

We must point out that these children are very affective, have a great sense of humour, a great capacity to imitate and a very good memory all of which favours them and society.

FXS is the first hereditary cause worldwide of mental retardation, however there is at present a great lack of knowledge about this pathology.

To date there has not yet been, on a national level, any action taken to inform and generate social awareness, which means that there are many children with FXS who still have not been diagnosed and therefore are not being treated as they should.

The main aim of this initiative comes as a response to the need, both social and professional, within the health sector and is to :

In order to do so one must carry out the following steps:

There are three target groups at which this conference is aimed at:

It is the first two groups who will benefit directly from this event. A communication campaign is being organised around the conference which includes sending the conference program and general information on FXS to an extensive mailing list, including:

• All FXS Associations in Spain

• International FXS Associations and Foundations

• Professionals from the medical sector, such as: Geneticists, Gynaecologists, Family doctors, Neurologists, paediatricians, psychiatrists, ophthalmologists, etc.

• Professionals from psycho-pedagogical sector, such as: Teachers, Speech Therapists, Psychologists, occupational therapists, etc.

• Professionals who work in:

• Centres for the disabled, special education, early stimulation, Foundations and Associations for people suffering from mental retardation, and their families.

The third sector, Society in General, will benefit indirectly as a result of the communication campaign carried out around the conference.

This initiative entails two parallel actions:

1. On the one hand the actual conference on FXS, of scientific, psyco-educational and social nature, in Barcelona in October of 2001.

2. On the other hand the development of a Communications Campaign aimed to increase social sensibility and awareness on FXS.

The organisation counts on the participation and support of some of the most prestigious specialists on FXS world-wide, as well as representatives of various international Associations and Foundations/Trusts, ensuring that the impact of this project will not only be local but on an international level.

Place: Auditorio Centro de Convenciones Winterthur

Date: 27 and 28th October 2001

Capacity: 620 assistants

Registration fees: 2.500 ptas . for patients and families

15000 ptas. for professionals

Contacts: Melissa Torrado and Montse Orriols

mtorrado@echevarne.com / morriols@echevarne.com

Telephone: 00 34 93 496 44 44 Extension: 281

Fax: 00 34 93 496 44 61

Central Government Work and Social matters Minister

Sra. Montse Orriols

Sr. Federico Carrillo

Randi Hagerman - Overview on Fragile X

Round Table discussion Chairman: Montserrat Milà

José Ignacio Lao - Diagnostic approach to genetic mental retardation syndromes

Guillermo Glover - Diagnostic techniques

Feliciano Ramos - Use of hair root diagnosis in screening protocols

Isabel Tejada - Prevention of FXS using Prenatal genetic diagnosis: Advantages and controversial aspects.

Montserrat Milà - Early Menopause. Preimplantation diagnosis

Round Table discussion Chairman: Josep Artigas

Carme Brun - Psycholinguistic aspects

Josep Artigas - Pharmacological therapy

Round Table discussion Chairman: Eduardo Brignani

• Representatives of the Fragile X Associations in Spain
• Representatives of the Fragile X Association in Uruguay

Round Table discussion Chairman: Yolanda de Diego

Paul Hagerman - Biology of FMRP/ mRNA

Elizabeth Pintado - Regulation FMR-1 gene expression

Pietro Chiurazzi - Reactivation of the fragile X gene: from test tubes to bedside.

Yolanda de Diego - Experimental models of gene therapy

Louise Gane - General Educational Aspects

Eduardo Brignani - Psychological support to affected families

Raquel Furgang - Language disabilities

Nuria Buscà - The importance of Physical Therapy

Natalia Gil - Educational aspects and the Health Authorities

The aim of this campaign is to inform society; i.e.; affected families, professionals and the general public, on Fragile X Syndrome and at the same time try to spread the word as much as possible about the conference:

1. Affected families: The aim here is to guarantee their attendance at mentioned conference.

2. Professional sector: The aim is to inform and capture the professionals through specialized press, by sending out the conference program and posters directly to professionals, medical and educational centers.

3. General Public: The aim is to reach the general public through the media (written press, radio and television), prior, during and after the conference.

This campaign includes carrying out the following:

• Sending out the programme to a mailing list of approximately 40.000 people, including affected families and professionals, from both the health and psycopedagogical sectors.

• Sending an informative poster to medical and educational centres.

• A press conference, prior to the event in order to introduce both; Fragile X Syndrome and the conference itself. Sponsor company’s logos/names will be present during this press conference.

• Negotiating articles, reports, interviews and advertising with all media; written and specialised press, radio and television.

• Inviting the media to attend the conference by sending out an invitation together with a press dossier.

• Co-ordinate and follow up with the media, interviews (with professionals or well-known personalities) and reports during the conference, there will be a press office at the conference centre to facilitate this task and as a permanent centre of information.

• A press dossier will be sent to all the media once the conference has finalised.

• An overall assessment of the communication campaign.