Syndrome Angelman

syndrome Angelman ndi anomaly majini (chromosomal kusintha), zotsatira mu Kuchedwa kukula maganizo, kuyambira insufficiently anapanga dongosolo kupuma, amene akufotokozera dongosolo neurobiological. Choncho, munthu ali pafupipafupi kuseka, manja zosathandiza, khunyu, kugona kusokonezedwa. matenda osachiritsika, koma kusintha n'chotheka kukachitika kuti ape- amafuna kuti oxygen.

Matendawa amapezeka chifukwa cha mowiriza khromozomu chilema, chifukwa kusintha mu jini, pali ena kunyoza mapuloteni enzyme.

Pakali pano, syndrome Angelman amapezeka mu limodzi la ana zikwi makumi awiri. Iwo amakhala ndi:

1. Mavuto ndi yoyamwitsa, chifukwa ndondomeko imeneyi kumafuna kugwirizana wabwino kupuma, pofuna kupewa chiyembekezo. Choncho, ana mokwanira kunenepa.

2. Kuchedwa kukula kwa luso ambiri galimoto, kalankhulidwe tcheru. Pali vuto maphunziro awo.

3. 80% milandu symptomatic khunyu. Pali inagwedezeka, ndipo uncoordinated kayendedwe ka miyendo, kupweteka zidzachitika, amene angathe kukhala akatumba onse a thupi, kapena imfa ndi patchy cha chikumbumtima.

4. kuseka ndi kumwetulira popanda chifukwa.

5. Violation mu chitukuko chonse - yolakwika kukula kwa mutu ndi nkhope, squint, kupindika msana.

syndrome Angelman amawapeza ndi kusanthula majini a asakhale ndi vutoli 15. Izo ntchito pamene pali utachepa minofu kamvekedwe makanda, Kuchedwa kukula kalankhulidwe galimoto, komanso kukumbukira bwino kugwedeza, kayendedwe osasamba nthambi, kawirikawiri kuseka kapena kuyenda pa miyendo zinachitika. Kumathandiza DNA methylation, kusintha kwa kusanthula ndi pakati imprintingvogo UBE3A mbewu.

Pakali pano, mankhwala a matenda sizinachitike otukuka. Koma pali zochitika zosiyanasiyana za umalimbana chitukuko cha ana ndi retardation maganizo, komanso kutukula khalidwe moyo wawo.

Mwachitsanzo, makalasi ndi defectology ndi ndiyambe kulankhula mankhwala thupi ntchito ngati minofu hypotonia, ndi hypnotics analamula kuti matenda tulo. Ziwembu ntchito wothandizila achire ndi amodzi mwa khunyu (anticonvulsants). Chifukwa chosafuna kugwira ntchito za masiku onse matumbo ntchito mankhwala ofewetsa tuvi.

Afotokozerane ndi ana adakali aang'ono, pogwiritsa ntchito zochitika zapadera ofotokoza chitukuko cha luso galimoto, akhoza iyende bwino.

Ziyembekezo za chitukuko cha anthu ndi matendawa zimadalira m'mene chidwi lakhumi khromozomu. Ena kuphunzira ndi luso wodzilamulira utumiki pa mlingo wochepa, ena sadzakhoza kulankhula ndi kuyenda.

Choncho, ana amene ali ndi matenda Angelman, yodziwika ndi zina khalidwe: impulsivity, autostimulyatsiya, amavutika kulankhulana ndi anthu. Ndipo ngakhale ambiri a iwo zingakhale kwathunthu kwina, iwo onse zambiri wochezeka, zabwino, amakonda kusewera, choncho m'pofunika kuwaphunzitsa chinenero chamanja, moti ankalankhula ndi anthu.

Chotero matenda kakulidwe amafuna maphunziro apadera ku magawo oyambirira, monga ndi zaka vuto ndi kukula. Khalidwe la anthu adakali ndi zachilendo, iwo ali yekha manja ndi phokoso angakhale aukali nkhani ya kusamvetsetsana. Banja pamene pali ana ndi matenda Angelman zambiri amadwala kulephera kulankhulana, koma tiyenera kukumbukira kuti odwala amafunika yozungulira mpweya chokomera ndipo apatseni chisamaliro zoyenera ndi mankhwala, ndiyeno ife tikhoza iyende positive.