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Kazan, Russia, Republic of Tatarstan

September 16-17, 2011 г.

Part 1. About conference

European conference on Rett syndrome (RS) was held in Kazan, the capital of the Republic of Tatarstan on September 16 – 17, 2011 for the first time in Russian Federation. The conference proceeded under the patronage of European association of Rett syndrome patients, President of the Republic of Tatarstan Rustam N. Minnikhanov, Kazan Mayor Ilsur R.Metshin, and Kazan state medical university. The participants of the conference were the parents of children with Rett syndrome; representatives of scientific research, medical, social and public organizations; teaching staff, post-graduates and students of medical and pedagogical educational institutions; deputies of State Duma of Russian Federation federal meeting, Republic of Tatarstan State Council, Kazan city Duma; executives and specialists of state and municipal organizations and institutions. The organizer of the Conference was All-Russian autonomic noncommercial organization “Association of assistance to Rett syndrome patients” with the support of outstanding tennis player Vera Zvonareva. This organization is registered in the Republic of Tatarstsn, Russia.

There were more than 250 conference participants from Tatarstan, Moscow, Saint Petersburg and other Russia regions (all in all more than 30 Russian cities), Germany, the USA, Ukraine, Finland, France, Sweden, Italy, Kazakhstan, and Asian countries. 19 reports and 9 appeals were heard during one plenary and 6 sectional meeting, master-classes, workshops and discussions of vital questions were organized. Conference participants visited Kazan rehabilitation centers for children, got acquainted with Kazan places of interest, and Kazan City hall. Finally, the participants visited charity game of Russian tennis stars, which was held in «Tennis – beat» (Kazan tennis academy).

Part 2. About Rett syndrome

General and main peculiarities of patients with Rett syndrome are multiple disorders of movement, breathing, learning abilities, caused by genetic mutation, followed by full and constant dependence in all spheres of everyday life. Rett disorder nowadays is known all over the world and is the result of new mutation in  МЕСР2 gene in Х chromosome. This disease is met in different social classes, nationalities, cultures, with frequency 1 in 10,000 – 15,000 born. As a rule, they are girls, females of different age, leaving in certain environment, having personal features and in need of communication and tolerant perception from others their motor and intellectual disorders. If there is lack of support, their life is in danger.

Current investigations (financed by International Rett Syndrome Fund and other parents organizations) show that neurological disturbances, as the result of protein  MeCP2 function loss, may be restored after reactivation МЕСР2 gene function. These investigations prove reversibility of neurological and other disturbances after normalization of МЕСР2 gene work. This gives unchallengeable   hope for restoration of mental, breathing and motor functions in patients with Rett syndrome.

Russian scientists also made large contribution to the problem of diagnostics, pathogenesis and treatment of Rett syndrome. For the first time there was studied epigenetical phenomenon  of X chromosome inactivation in the group of RS girls, and it was shown that unequal inactivation of X chromosome is the characteristic  feature of this disease. It was shown that among them there may be present asymptomatic carries of mutations in genes, linked with X chromosome, including mutations in МЕСР2 gene. Being based on obtained findings about peculiarities of X chromosome inactivation and gene МЕСР2 mutation, there was worked out original scheme of complex RS diagnostics. Obtained findings are used for the effective medical genetical consultation while determining family RS cases, and also for the development of effective methods prenatal and postnatal diagnostics of RS.

During the discussion of presented report, conference participants spoke in necessity to initiate all possible efforts for the development of scientific research, to give more information to the society and make changes in the states legislation in order to achieve equal rights and possibilities for the people with Rett syndrome. These should be done according to the Convention of rights of disabled which was adopted by UN General Assembly on December 13, 2006, resolution 61/106.

Part 3. About state and social support

The participants of European conference on Rett syndrome consider it important to appeal to the heads of the European countries, parliaments of European countries to look into the possibility of joining all efforts in solving important social problem – the problem of small population group demands account, to which belong people with Rett syndrome and their closest relatives. State measures in organizing the structure of rendering medical help to children and adults with Rett syndrome, and also with other rare diseases must become part of laws in health care politics. Undoubtedly they would contribute the development, strengthening and coordination of initiatives of all concerned parties.

Conference participants address to the authorities of Republic of Tatarstan and Russian Federation to support this initiative and render every possible assistance in its realization. Taking into consideration that Tatarstan possesses extensive basis of educational, research and health care institutions, highly qualified professionals able to participate actively in intra-state cooperation, conference participants are sure in positive solution of this question.

 Undoubtedly ,using as the example All-Russian parents “Association of assistance to Rett syndrome patients”, registered in Republic of Tatarstan, Russia, every possible assistance in this problem will be rendered by existing and nascent public unions , having become the partners of doctors and researchers, the locomotive force of  increasing public awareness. People with active approach to life won’t stand aside because they understand that from the solution of one problem it is possible and necessary to move forward to the solution of others, not less important. Further integrating efforts of European public would also promote the fastest solution of important and complex tasks. 

It’s time for every possible inter-state and public support to the scientific, research and experimental works, and for formation of necessary clinical unit for rendering help to people with Rett syndrome. This problem must concern all system of health care and social support as a whole.

 Part 4. About supporting of medical public efforts

Conference supports the proposals of medical public declared during discussion of the question «Rare diseases in Russia: problems and perspectives» on February 17, 2011 at the meeting in the frame of  XV Congress of pediatricians of Russia with international participation “Actual problems of pediatrics” (February14-17, 2011), and also while discussing questions : “Actual problems of patients and  patient’s organizations”, “Medical and social rehabilitation of patients with rare diseases”, during IV International conference on questions of enhancement of diagnostics, treatment and rehabilitation of patients with rare and genetic diseases. Multidisciplinary approach. “Doctors of the world – to the patients”, September 4-7, 2011. (Saint Petersburg).

Based on the fact that Rett syndrome is primarily disorder (disease) of the nervous system, conference participants made proposal about all round study, elaboration of new methods of treatment and rehabilitation of this disease . It is supposed to support the hypothesis that Rett syndrome is a disorder of development but not a progressive degenerative disorder.

Conference approaches to the Ministry of health care and social development of Russian Federation with the following proposals:

  •  to look for the possibility of including Russian specialists in international group of Rett syndrome research;
  • to form  All-Russian register of Rett syndrome patients;
  • to work out standards of abilitation, medical and social rehabilitation  of  Rett syndrome patients;
  • to include in  system of rehabilitation and list of compulsory rehabilitation arrangements for disabled children such methods as ABA-therapy, hydrotherapy, ippotherapy, music therapy and others for the work with children with multiple  disorders, among them children and adults with Rett syndrome.
  • to adjust diagnostics of this disease in large medical centers in all federal districts of Russia.
  • to form scientific research Center for studying Rett syndrome.
  • to form constant commission on rare diseases problems (Rett syndrome among them)
  • to give inclusive support to All-Russian parents “Association of assistance to Rett syndrome patients”, registered in the Republic of Tatarstan, Russia.

Part 5. About the development of public activity

Conference distinguishes positive work of registered in the Republic of Tatarstan All-Russian parents “Association of assistance to Rett syndrome patients” ,   directed  to alliance the efforts of state power organs, health care institutions, research and educational medical institutions and public in solving complex questions , related to the problems of rendering help to Rett syndrome patients and members of their families.

Conference participants consider it very important to continue the development of association activity, directed to support  organizations and people efforts in rendering help to Rett syndrome patients and their families, development of legislative background of health care, and strengthening of links with the international organizations. Conference addresses the Ministry of science and education of Russian Federation, in the Department of upbringing and socialization with the following proposals:

  • to work out standards and   regulations of training children with Rett syndrome in the system of special correcting and in future – inclusive and integrated education;
  • to adjust education of doctors and teachers and advanced training of specialists of educational system with regard to update methods of integrated education of children and adults with Rett syndrome.