. . . "Syndrom Smithov\u00E9-Magenisov\u00E9"@cs . "melatonin; mental retardation; behavioral problems; sleep disturbance; Smith-Magenis syndrome; chromosome 17p11.2"@en . . . "1" . . "233784" . . "N" . . . "http://cspsychiatr.cz/detail.php?stat=689" . . "Syndrom Smithov\u00E9-Magenisov\u00E9"@cs . "107" . . "RIV/00064165:_____/11:9037" . . "Podstatou syndromu Smithov\u00E9-Magenisov\u00E9 (SMS) je vrozen\u00E1 genetick\u00E1 vada, p\u0159i n\u00ED\u017E je posti\u017Een sedmn\u00E1ct\u00FD chromosom. Jedn\u00E1 se o tzv. mikrodele\u010Dn\u00ED syndrom, zp\u016Fsoben\u00FD abnormalitou v d\u00E9lce kr\u00E1tk\u00E9ho (p) ram\u00E9nka chromosomu 17p11.2. N\u011Bkdy se tak\u00E9 hovo\u0159\u00ED o tzv. 17p-syndromu. \u0158ada gen\u016F chromosomu17 byla ji\u017E zmapov\u00E1na, jejich jednotliv\u00E9 role nejsou dosud zn\u00E1my. Haploinsuficience n\u011Bkolika gen\u016F chromosomu17 je pravd\u011Bpodobn\u011B zodpov\u011Bdn\u00E1 za typick\u00FD fenotyp SMS. Incidence onemocn\u011Bn\u00ED se odhaduje na 1 : 25 000. Syndrom je spojen s neurobehavior\u00E1ln\u00EDmi p\u0159\u00EDznaky, jako jsou hyperaktivita,impulzivita, n\u00E1hl\u00E9 zm\u011Bny n\u00E1lady, poruchy pozornosti a poruchy sp\u00E1nku. Charakteristick\u00E9 jsou \u010Dast\u00E9 nezvladateln\u00E9 z\u00E1chvaty vzteku doprov\u00E1zen\u00E9 sebepo\u0161kozov\u00E1n\u00EDm. Ment\u00E1ln\u00ED v\u00FDvoj b\u00FDv\u00E1 ukon\u010Den na \u00FArovni zhruba \u010Dty\u0159let\u00E9ho d\u00EDt\u011Bte. Sp\u00E1nkov\u00E9 poruchy a poruchy chov\u00E1n\u00ED by mohly \u010D\u00E1ste\u010Dn\u011B souviset s p\u0159evr\u00E1cen\u00FDm (denn\u00EDm) vylu\u010Dov\u00E1n\u00EDm melatoninu. \u010Casn\u00E9 zah\u00E1jen\u00ED multidimenzion\u00E1ln\u00ED t\u00FDmov\u00E9 terapie je nezbytn\u00E9 k celkov\u00E9 stimulaci v\u00FDvoje d\u00EDt\u011Bte"@cs . . "Syndrom Smithov\u00E9-Magenisov\u00E9" . "Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The syndrome is due to an abnormality in the short (p) arm of chromosome17 and is sometimes called the17p-syndrome. The major features of this condition include mild to moderate mental retardation, distinctive facial features, and sleep disturbances. People with Smith-Magenis syndrome most also have behavioral problems. These include anxiety, aggression, impulsiveness, and difficulty paying attention. Self-injury is very common. Treatment for Smith-Magenis syndrome relies on managing its symptoms. Children with SMS often require several forms of support, including multidimensional therapy. In combination with exogenous melatonin, adrenergic antagonist can improve sleep and sleep timing, increase concentration, and aid in improvement of behavior."@en . "Zv\u011B\u0159ov\u00E1, Martina" . . "7"^^ . . "[C964BE3CB09C]" . "Podstatou syndromu Smithov\u00E9-Magenisov\u00E9 (SMS) je vrozen\u00E1 genetick\u00E1 vada, p\u0159i n\u00ED\u017E je posti\u017Een sedmn\u00E1ct\u00FD chromosom. Jedn\u00E1 se o tzv. mikrodele\u010Dn\u00ED syndrom, zp\u016Fsoben\u00FD abnormalitou v d\u00E9lce kr\u00E1tk\u00E9ho (p) ram\u00E9nka chromosomu 17p11.2. N\u011Bkdy se tak\u00E9 hovo\u0159\u00ED o tzv. 17p-syndromu. \u0158ada gen\u016F chromosomu17 byla ji\u017E zmapov\u00E1na, jejich jednotliv\u00E9 role nejsou dosud zn\u00E1my. Haploinsuficience n\u011Bkolika gen\u016F chromosomu17 je pravd\u011Bpodobn\u011B zodpov\u011Bdn\u00E1 za typick\u00FD fenotyp SMS. Incidence onemocn\u011Bn\u00ED se odhaduje na 1 : 25 000. Syndrom je spojen s neurobehavior\u00E1ln\u00EDmi p\u0159\u00EDznaky, jako jsou hyperaktivita,impulzivita, n\u00E1hl\u00E9 zm\u011Bny n\u00E1lady, poruchy pozornosti a poruchy sp\u00E1nku. Charakteristick\u00E9 jsou \u010Dast\u00E9 nezvladateln\u00E9 z\u00E1chvaty vzteku doprov\u00E1zen\u00E9 sebepo\u0161kozov\u00E1n\u00EDm. Ment\u00E1ln\u00ED v\u00FDvoj b\u00FDv\u00E1 ukon\u010Den na \u00FArovni zhruba \u010Dty\u0159let\u00E9ho d\u00EDt\u011Bte. Sp\u00E1nkov\u00E9 poruchy a poruchy chov\u00E1n\u00ED by mohly \u010D\u00E1ste\u010Dn\u011B souviset s p\u0159evr\u00E1cen\u00FDm (denn\u00EDm) vylu\u010Dov\u00E1n\u00EDm melatoninu. \u010Casn\u00E9 zah\u00E1jen\u00ED multidimenzion\u00E1ln\u00ED t\u00FDmov\u00E9 terapie je nezbytn\u00E9 k celkov\u00E9 stimulaci v\u00FDvoje d\u00EDt\u011Bte" . "Syndrom Smithov\u00E9-Magenisov\u00E9" . . "\u010Cesk\u00E1 a slovensk\u00E1 psychiatrie" . "1"^^ . "CZ - \u010Cesk\u00E1 republika" . "Smith-Magenis Syndrome (SMS)"@en . . "1"^^ . . "Smith-Magenis Syndrome (SMS)"@en . "RIV/00064165:_____/11:9037!RIV12-MZ0-00064165" . "1212-0383" .