Conference venue «Kazanskaya Riviera»
May 13, Friday
9.00–12.00. Registration. Welcoming addresses – opening.
Chairman : Iourov I.Y. (Russia, Moscow)
Naidu S. (USA,
Baltimore). (20 min.)
Chairmen: Hulten M. (Sweden&UK), Kutsev S.I. (Russia, Moscow), Iourov I.Y. (Russia, Moscow)
(Sweden&UK) Rare chromosome disorders: a "Unique" experience (20
Chairmen: Yurov Y.B. (Moscow, Russia), Vorsanova S.G. (Moscow, Russia)
Voinova V.Y., Vorsanova S.G., Yurov Y.B.
(Russia, Moscow) Х-linked mental retardation in children (20 min.)
May 14, Saturday
Concurrent session «Rett
V.Y. (Russia, Moscow) Russian Rett syndrome cohort (25 min.)
Smeets E.E.J. (Netherlands) (25 min.)
Curfs L.M.G. (Netherlands) (25 min.)
Coenraads M. (USA)
Rett Syndrome Research Trust (video lecture) (25 min.)
Yurov Y.B., Vorsanova S.G., Zelenova M.A., Iourov I.Y. (Russia, Moscow) Molecular cytogenetic diagnosis of microdeletions in Rett syndrome (20 min.)
Akimova I.A. (Russia, Moscow) NGS in the diagnosis of Rett syndrome (20 min.)
Kurinnaia O.S., Yurov Y.B., Vorsanova S.G., Vasin K.S. (Russia, Moscow) Analysis of genomic variations in children with "Rett-like" phenotype (20 min.)
Vasin K.S., Vorsanova S.G. (Russia, Moscow) Bioinformatic analysis of the duplication of 11p15 in two individuals with "Rett-like" phenotype (20 min.)
Zelenova M.A., Vorsanova S.G., Iourov I.Y. (Russia, Moscow) Duplication spanning 1q21.1q21.2 may be associated with "Rett-like" phenotype and intellectual disability (20 min.)
Vorsanova S.G., Yurov Y.B., Demidova I.A., Iourov I.Y. (Russia, Moscow) The
contribution of Russian researchers to the study of Rett syndrome (30 min.)
13.00-18.00. Treatment perspectives. Analysis of complex cases and case histories.
Chairmen: Leonard H. (Australia), Voinova V.Y (Russia, Moscow), Larionova V.I (Russia, Saint-Petersburg)
Kvaskova N.E. (Russia, Moscow) EEG features in children with Rett syndrome. (25 min.)
Bulatnikova M.A. (Russia, Saint-Petersburg) Two
cases of cardiofaciocutaneous syndrome in children without abnormalities of
the heart, caused by a mutation in the BRAF
gene. (25 min.)
Gold W. (Australia) (25 min.)
Freilinger M. (Austria) (25 min)
Polevichenko E. (25 min)
Chairmen: Tilki-Shimansk Anna, Volgina S. Ya., Belogurova M. B.
Belogurova M. B. (Russia, SPb) Illness to Gosha, clinical picture and modern approaches to diagnostics and treatment
Voinova V. Yu. (Russia, Moscow) the H-linked intellectual backwardness at children
Volgina S. Ya. (Russia, Kazan) Problem of hereditary deficiency of a lipoproteinlipaza: diagnostics and modern methods of correction
Katlukova N. P. (Russia, Moscow) Illness to the Pomp pediatrician's eyes
Anna Tilki Shimanska (Poland), Metabolic diseases – possibilities of treatment
Polevichenko E.V. (Russia, Moscow) Resources of palliative care to children with rare diseases in the Russian Federation.
Section "Rare Diseases of III", 16.00-18.00.
Chairmen: Larionova V. I., Demikova N. W, Nikolaeva E.A.
Podkletnova T.V. (Russia, Moscow) Hunter's Syndrome – a modern view on clinical manifestations, diagnostics and treatment
Larionova V. I. (Russia, SPb) Rare and hereditary diseases with damage of a skeleton. Modern approaches and strategy of treatment
Demikova N. S., Asanov A.Yu. (Russia, Moscow) Problems of diagnostics of rare syndromes with congenital malformations
Polyakova S. I. (Russia, Moscow), Diseases of a cycle of formation of urea - our first steps
Nikolaeva E.A. (Russia, Moscow) Mitochondrial diseases at children: diagnostics and treatment
9.30.-14.00 Consultations for the parents
Helena Wandin (Rett Center, Sweden)
Naidu Sakkubai (USA, Baltimore)
Voinova V.Y (Russia Moscow)
Sarodjini Badden (USA)
G. Nguyen (France).
Eric E.J. Smeets (Netherlands)
Meir Lotan (Israel)
Leopold M. G. Curfs (Netherlands)
Michael Freilinger (Austria)
Lectures for parents:
10.00-11.00 Polevichenko E. (Russia)
11.00-12.00 Nguen G. (France)
12.00-13.00 Tulchinsky M. (Russia)
Work-shop on musical therapy with Helena Wandin and Märith Bergström-Isacsson (Sweden).
Discussion platform for the parents: the child's
age – problems of the period, ways of solving the problems, support. 14.00-16.00
Children's clinical hospital
Section "The centers for children with Rhett's syndrome. A role of team of experts in rendering the personified help to the child with Rhett's syndrome", 9.00-10.45
Moderators: Sibgatullina I.F., directors of the international interaction of the Austrian institute of assistance to intellectual development of RBS (Austria, Vienna).
Vanchova Alice, Institute of education, University of Bratislava (Slovakia).
Sarodjini Badden (USA) Rehabilitation of persons with Rett's syndrome.
Märith Bergström-Isacsson (Rett Center, Sweden) and Helena Wandin. The Center of a syndrome of Rett of Sweden - interprofessional approach and key values.
Jorma Syväjärvi (Finland) About the centers of rehabilitation and leisure for special people in Finland.
Samir Seyfi (India) Rett – association and support of the government of India children with Rhett's syndrome.
Natalya Trifonova, Firuza Lukonina (Russia) the Rehabilitation center for children and teenagers with limited opportunities "April".
Marina Parazyan (Armenia) "Center from scratch": performance in a format workshop.
Round table "Alternative methods of communication and psychological support", 11.00-12.45.
Moderators: Trifonova N. N., the director of the rehabilitation center for children with limited opportunities "April" (Russia, Kazan), Timutsa O. V., к.с.н., chairman of the board of Autonomous Non-Commercial Organization "Rett syndrome Association"
Kathy Hunter (USA) About a role of the parental movement in creation of system of psychological support of families with children with Rett's syndrome.
Akulova Alyona (Belarus) Life after the diagnosis: accommodation of crisis of a serious chronic illness of the child by parents and other family members, search of resources for life.
Budiltseva T.B. Experience with children with Rett's syndrome in the Center of medical pedagogics of Moscow (Russia).
Vanchova Alice (Slovenia) Hand — a Brain Program.
Helena Wandin (Sweden) communication Strategy - actual data and experience.
Surenyan Elena Anatolyevna (Russia) Training in skills of the letter of the child with a syndrome Rett (personal experience).
Handazhinskaya Anastasia (Russia) Way to school.
Märith Bergström-Isacsson (Sweden) will measure — Music changes a lot of things.
Akulova Alyona (Belarus) singing Use as bases for artificially reconstruction of ontogenesis of the speech at nonspeaking children with safe hearing and the difficult combined violations of development.
Round table "Physiotherapeutic and ergoterapevtichesky approaches and practicians", 11.00-12.45.
Moderators: Goncharova O. L., к.п.н., director of GAUSO Center of rehabilitation of disabled people "Ascension", Morozova O. N., director of BF "Window in hope"
Fokina N. L. (Russia) Occupations with children with Rett's syndrome in the pool. Experience in the Center of medical pedagogics (Moscow).
Absandze I.A. (Russia) Posturalny management: positioning, motive mode, prevention and prevention контарактур.
Meir Lotan (Israel) physical therapy: the subject is specified.
Yorma Syuvyayarvi (Finland) Adulthood of Catharina: the accompanied accommodation and active life.
Kozachenko Elena (Russia) Dream Skis Program.
Mingazova Adelina (Russia) Hippotherapy.
INAYYa Grasiana Yusuf (USA) Going about the own business (documentary).
Excursion in the children's and adult rehabilitation centers (Kazan)
14.00-16.00. A round table in a hospice "Mass media, the religious and volunteer organizations about those who can't be cured"