PRESENTATION LETTER
A.I.R. (Associazione Italiana Rett) and RSE (Rett
Syndrome Europe) are the organizers of the 1st
European Congress on Rett Syndrome, with an
overview from research to treatment, focusing on
new perspectives about this topic.
We will dedicate the first day to doctors and
researchers employed on Rett Syndrome; starting
with an historical overview and developing genetic
inputs towards diagnosis and research of correlations
between known genotypes and phenotypes; at 6 p.m.
parents will have the chance of getting direct answers
to their questions by specialists, after a summary of
the topics treated during the whole day.
Geneticists will propose a research update about
peculiar complexity of this ailment, including the
modern involvement of three different genes, with
numerous modalities.
With clinicians, we will examine how, while the clinic
symptom nucleus shows a constant and specific
trend, the expressivity and the gravity of patterns
can change relevantly, from an important congenital
and global compromising situation to an initial proper
development followed by a mental and motor
regression, motor troubles in highly invalidating
situations, absence of any communication to preserve
the language, complete absence of social signs and
pharmacoresistant epilepsy.
Reported news speak of the difficult connection
between genetic comparison and clinical
manifestations, evolution and prognosis, advancement
of animal experimentation, new meaningful
therapeutic hopes.
Basic sciences and translational researches contribute
to the progress of knowledge in this difficult context,
with an open challenge in the next future.
The 2nd day is focused on decidedly improving the
taking up of our "little girls with beautiful eyes".
We privileged the ambits where dedicated
professionals, basing on their experience and their
specific researches, communicate the epilepsy art
status, pharmacological treatments, management of behaviour troubles, modern contribution of
increasing communication, management of
nutritional troubles, of osteoporosis and scoliosis.
Numerous skilled Centres matured knowledge
including, and sometimes anticipating, a lot of
problems that can appear in the future and result
determinant for the evolution of single conditions.
Their work is very important for all children and
families involved and promote a different operative
way, with another challenge to the future.
At 6 p.m. we will have a synthesis of works and
experts will be available to answer to parents
questions directly.
The 3rd day will be split in more parts. The first part,
setting the Rett Syndrome in rare diseases, will focus
all that today Europe and Italy are organizing to
improve sanitary practices in Rare Diseases context.
Spokesmen are professionals with high responsibility
in this area. They present interesting information
about basic principles and about actions in progress
for the development of researches and charitable
modalities to all affections, that due to their low
incidence, need peculiar actions in Countries and
World Health Organization.
Then, some members of the European Scientific
Committee will present interesting innovative
proposals, focusing on the construction of a European
Database and reinforcement of European Scientific
Co-ordination.
Reserving a specific place to RSE planning will
constitute a constructive conclusion for the Congress.
After that, AIR meeting will take place for the increase
of donations and re-programming of pertaining
activities.
The Congress is for us an important chance for
encountering and programming charitable researches
and for the progress of operative modalities,
projected towards a modern taking up, effective and
focused on the future of our little girls.
Scientific Committee
Prof. Edvige Veneselli |
