Předkládané kazuistiky seznamují s možnostmi využití pomůcek alternativní a augmentativní komunikace u dětí kombinovaným postižením symptomatickou poruchou řeči. Představíme porovnáme náhradní způsoby dvou chlapců vývojovou anartrií. První případová studie se věnuje dítěti syndromem Lesch-Nyhan, druhá chlapci centrálního nervového systému. Naším cílem je...

We postulated that adenosine function could be related to some of the neurological features of Lesch-Nyhan syndrome and therefore characterized adenosine transport in PBLs (peripheral blood lymphocytes) obtained from Lesch-Nyhan patients (PBL(LN)) and from controls (PBL(C)). Adenosine transport was significantly lower in PBL(LN) when compared with that in PBL(C) and a significantly lower number...

Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) causes the Lesch-Nyhan syndrome. Previous characterization of a mutant form of HPRT, HPRTYale, from a subject with the Lesch-Nyhan syndrome revealed normal mRNA and protein concentrations, no residual catalytic activity, and cathodal migration upon PAGE. We have cloned and sequenced HPRTYale cDNA. The nucleotide sequen...

The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were also studied to determine whether they carry the mutation. DNA sequencing revealed that the boys’ mother is heterozygous for the mutation in he...

S elf-injurious behavior (SIB) is defined as deliberate harm to one's own body without suicidal intent. It usually occurs as head banging or hitting, body hitting, skin cutting, or finger biting' and includes ocular, genital, and oral self mutilation. SIB can occur with mental retardation, coma, psychotic problems, poisoning, or character disorders. In pediatric patients, SIB usually is related...