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  • Rettov sindrom = Rett syndrome
    Krajnc, Natalija, pediatrinja
    Rett syndrome was described almost 40 years ago and diagnostic criteria were initially established 20 years ago. Contrary to the original belief, that girls are affected exclusively, it is now known ... that boys are also affected. The decline in cognitive and motor functions follows a period of apparently normal development. The clinical course and pathophysiological studies attest that the disorder is not neurodegenerative, but is caused by developmental arrest of selective brain areas in their critical period. In 1999 a mutation in the MeCP2 gene of chromosome Xp28 was linked to the Rett syndrome. The mutation is not specific for this syndrome as it is also found in other disordecs. Confirmation of the diagnosis is therefore still based on the estabtished clinical criteria.
    Source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 11, [št.] 4, 2004, str. 205-212)
    Type of material - article, component part
    Publish date - 2004
    Language - slovenian
    COBISS.SI-ID - 19196633

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