Reference:
Individual projects P19581
Abstract:
The planned project is a continuation of our previous research on Rett syndrome, which first demonstrated that the development is noticeable in the first 6 months of life, in contrast to the previous doctrine.ﾠThe aim of the new project is the development of children with Rett syndrome from 6ﾠMonth (12 to 18 months) to study systematically until the beginning of the regression.ﾠThis important approach to the proposed project contributes significantly to the early diagnosis of Rett syndrome.ﾠmutations in the MECP2 gene cause Rett syndrome.ﾠIn rare cases, the clinical picture of Rett syndrome without MECP2 mutation can also occur, and there are children with MECP2 mutation without clinical signs.ﾠThus, the Rett syndrome is a clinical diagnosis and not genetic.After a more or less inconspicuous first year (Phase I) leads to regression (Phase II) will be lost in the acquired skills such as language and meaningful use of the hands and skull growth is slowing.ﾠDuring this time, the Rett syndrome characteristic Handstereotypien such as washing, wringing, clapping, tapping and repetitive movements of the hand appear to her mouth.ﾠIn the Phase III results in respiratory disorders, autistic traits, motor abnormalities, an erratic course, apraxia and seizures.ﾠIn Phase IV, the mobility is restricted, there is muscle weakness or stiffness, spasticity, dystonia and scoliosis.ﾠusing the systematic video analysis, the proposed project is in the tradition of behavioral observation whose significance was emphasized again recently for the development of neurology.ﾠThe hypotheses of the proposed project relate to individual courses of development of gross and fine motor skills, hand preference, the (hand) stereotypes, the facial expression, interaction and communication.ﾠEarly phenotypes are related to the severity of the syndrome later and different genotypes in relationship.ﾠAn additional essential aspect is the comparison with children who develop normally, children with Minor Neurological Dysfunctions, cerebral palsy and / or cognitive impairment, Fragile X Syndrome, Autism Spectrum Disorder and Angelman syndrome dar. Besides video analysis, extensive family questionnaires and checklists and direct observation used.ﾠWith the focus of this study, the early development of Rett syndrome and genotype-phenotype relationship, we meet two of three from the International Consortium 2006 RettSearch defined research priorities.ﾠOur proposed study provides a substantial contribution to a possible early diagnosis as a basis for early treatment.
PROJECT DETAILS
beginning: 2007.
end: 2012.
Country of research: Austria
Counry of funding source: Austria
Funding organization: FWF Austrian Science Fund. (FWF Der Wissenschaftsfonds)
Financing: NATIONAL FUNDINGS – 0 €