Matenda a Williams ("Elf munthu"): zimayambitsa, zizindikiro, chithandizo

Williams Syndrome, zomwe zimayambitsa, matenda, zomwe zimatchulidwa m'nkhaniyi, ndizochepa zomwe zimachititsa kuti munthu asabereke, chifukwa choyambirira chake sichinayambe kufotokozedwa ndi ofufuza. Anatchulidwa dzina lake J. Williams, yemwe anafotokoza mwatsatanetsatane mu 1961. Koma dzina loyambalo, chifukwa cha zikhalidwe za maonekedwe a odwala, nthawi zambiri limaphatikizidwanso limodzi: "nkhope ya Elf".

Chifukwa cha zomwe matendawa amayamba

Matenda a Williams ("nkhope ya Elf") ndi matenda a chibadwa omwe amawoneka ndi matenda a chromosome ya fetus. Zotere, kutayika kwa malo (kuchotsedwa) kwa chromosome yachisanu ndi chiwiri. Otaika omwe amatchedwa "mkono wautali wa chromosome" ali ndi majini 26, omwe amakhudzana ndi zizindikiro za matendawa (ngakhale ambiri mwa iwo akugwirizana ndi zizindikiro zomwe zilipo mu matendawa).

Kuphatikiza apo, pali majini pa chromosome yowonongeka yomwe imayambitsa m'mene ubongo umapangidwira ndikugwira ntchito, ndipo pali majini omwe amachititsa kuti pulojekiti ikhale yophatikizidwa. Ndipo izi zimapangitsa kuti ana omwe ali ndi matendawa asakhale ndi mavuto okhaokha, aumunthu komanso aumunthu, komanso azimayi osokonezeka, komanso osowa mtima m'mimba (stenosis ya aorta ndi pulmonary artery, yomwe ingathe kuchitika payekha komanso palimodzi) .

Odwala omwe ali ndi matenda a Williams akuwoneka bwanji

Kuwonekera kwa anthu omwe amapezeka ndi Williams syndrome ("nkhope ya Elf") amadziwika ndi nkhope yapadera:

• Ali ndi maso otsika, atazunguliridwa ndi maso otupa (omwe amadziwika makamaka pamene munthu aseka);
• Kamwa yaikulu ndi milomo yokwiya ndi kuluma kolakwika;
• Mphuno yothamanga kwambiri;
• Khungu lalifupi, lokhala ndi phokoso lamphuno lamphuno ndi nsonga yozungulira;
• Chin chinaloza pang'ono;
• Makutu otsika otsika;
• Protuberant occiput;
• Maso okongola a buluu (maso a ziso ali ndi bluish tinge)

Liwu la odwala amenewa, monga lamulo, ndi lochepa komanso lochepa.

Koma sizisonyezo zonse zomwe zatchulidwa zingapezeke mwa munthu mmodzi. Kuti mudziwe bwinobwino matendawa, ndikwanira kukhala ndi zinthu zitatu.

Momwe mungadziwire Williams syndrome ("nkhope ya Elf")

Kuphatikiza pa maonekedwe, ma syndrome a Williams ali ndi zizindikiro za kukula kwa ntchito zamanjenje zomwe zimachititsa kuti zikhale zochitika mu psyche.

1. Kuphwanya kugwirizana kwachinsinsi (njira yomwe mitsempha yamagetsi imalandira zizindikiro kuchokera kumbali yogwira, zida zotsekemera, kumva, kununkhira ndi kumva). Pankhaniyi, kuzimva kulira kwa odwala kumawonjezeka.
2. Odwala amangochita zinthu mopupuluma, mosavuta, osasangalatsa (nthawi zina ngakhale amasiye), maganizo awo sakhala osasunthika (mu mankhwala, mbali imeneyi imadziwika kuti ndikumangirira).
3. Awonjezeka nkhawa, ndikuopa chilichonse chatsopano.
4. Khalidwe ndizosemphana ndi kuthekera kwa mawu omveka bwino (kulankhula momveka bwino) komanso kuzindikira zomwe zanenedwa (zochititsa chidwi).
5. Panthawi yophunzitsidwa ndi odwala amenewa, mavuto owonetseratu za masamu amaonekera.

Pa nthawi yomweyi, momwe kuchepa kwa maganizo mwa anawo kumawonetsera si zachilendo. Kulankhula kwawo, monga lamulo, kumapangidwa bwino chifukwa cha msinkhu wawo, momveka bwino komanso wachikuda m'maganizo, kuwonjezera apo, ali ndi luso loimba nyimbo: kumva, kumva bwino, komanso nyimbo zabwino. Angathe kuthera nthawi yambiri akuimba zida zoimbira kapena kumvetsera kuntchito, koma saganizira kwambiri zinthu zina.

Mbali za psychology ya odwala okhala ndi "Elf syndrome"

Chimodzi mwa makhalidwe apamwamba a "elves" ndi luso lawo loyankhulana. Ana omwe akudwala matendawa, mopanda mantha akuyandikira munthu wosadziŵa, amasonyeza chifundo komanso mosavuta kuthandiza. Kulankhula kwawo kung'ung'uza mtsinje, akumwetulira ndi amtima. Ochita kafukufuku akufotokoza izi mwachindunji ndi ntchito ya amygdala ya ubongo wawo, chifukwa chakuti anthu oterewa amakhudzidwa kwambiri kuti awonetsere munthu amene akulankhula naye, ndipo zosavutazo sizikuwoneka.

Ngati mwanayo amapezeka ndi "Elf nkhope" (Williams syndrome), ndiye kuti muyenera kudziwa kuti mwanayo ndi mwana wowongoka mtima, yemwe sangazindikire zomwe zikuchitikazo komanso amakhala wopusa. Ndipo kusadziŵa kwake kwa nzeru, iye adzasungira pansi pa ntchito yosamalidwa bwino ndi kuwonetsera bwino, ngakhale kuti nthawi zambiri ana otere amanena molakwika, kuswa mbali yachisokonezo ya zomwe zanenedwa.

Zina zosangalatsa zochepa za Elves

Ofufuza akufufuza Williams syndrome ("nkhope ya Elf"), zomwe zimayambitsa, zizindikiro za matendawa, zapeza kuti anthu omwe akudwala matendawa amakhala ndi chisankho chapadera pozindikira zowonongedwa.

Kotero, ngati muwonetsa wodwala chithunzi cha njinga ndikupatsanso zithunzi, ndiye kuti adzazichita molondola, osasowa kanthu kamodzi. Zoona, gudumu, mawilo ndi nsapato zidzafalikira pansalu. Koma ngati ntchito yomweyi iyenera kuchitidwa ndi chifaniziro cha nkhope ya munthu, idzakhala yabwino kwambiri, yothetsera, kuphatikizapo, chithunzicho sichinthu choipitsitsa kuposa katswiri wamaganizo kuti agwire khalidwe la munthu.

Matenda omwe ali nawo "Elf syndrome"

Mwatsoka, matenda a "Elf nkhope" (Williams syndrome) amadziwonetsera mu zovuta zosiyanasiyana zomwe zimayendera limodzi ndi matendawa. Kotero, kwa ana omwe ali ndi matendawa, monga lamulo, mano amatha mochedwa, ndipo akakula amawoneka ngati ochepa komanso ochepa. Kuonjezera apo, odwala ali ndi chizoloŵezi chodula, kuluma kumasweka, ndipo kupindika kwa nsalu ya masaya kumasintha.

Ana omwe ali ndi matendawa m'zaka zoyambirira za moyo amakhala olemera kwambiri komanso akukula pang'ono, koma m'tsogolo muno ambiri amakhala odzaza ndi thupi. Mpaka chaka, makanda "elves" amavutika ndi hypoccalcemia, yomwe imayamba chifukwa cha kuchuluka kwa kashiamu kumatumbo.

Kwa akuluakulu, chikhalidwe ndi mawonekedwe a miyendo, kapangidwe kakang'ono, m'chiuno chotsika komanso pakhosi. Matenda a Williams ("nkhope ya Elf") kawirikawiri imaphatikizidwa ndi kulemerera kwakukulu kwa ziwalo, zomwe zimawonekera pazowonjezereka, kuphatikizapo mapazi otsika ndi clubfoot. Kuphwanya kosiyanasiyana mu ntchito ya minofu ya minofu imapezedwanso. Kawirikawiri pali mimba ndi inguinal hernia, mwa odwala ena - kupweteka kwa mphuno.

Kodi "matenda a Elf" amachiritsidwa bwanji?

Odwala omwe akudwala matenda a Williams (Elf nkhope) amalandira chithandizo chokhacho chifukwa cha matenda opatsirana, chifukwa matenda opatsirana masiku ano alibe mankhwala enieni.

Kwa ana amene alowa m'chipatala ali ndi hypercalcemia mwamphamvu kwambiri, otchedwa glucocorticoids ("Hydrocortisone"), ndipo odwala akulu nthawi zambiri amalimbikitsidwa kuyang'anitsitsa ma calcium m'magazi ndi mavitamini D, motsogoleredwa ndi calcium.

Ana omwe ali ndi matendawa amafunikira kuphunzitsidwa mwamphamvu ndi katswiri wa zamaganizo. Kuyankhulana ndi ana a thanzi amakhalanso ofunika kwambiri kwa odwala amenewa, chifukwa amawathandiza kukhala ndi mphamvu zowonjezera.

Zolemba

Odwala omwe amapezeka ndi Williams syndrome ("Elf people") amakonda kukhala ocheperapo kusiyana ndi anthu wamba. Akatswiri amanena kuti izi zimakhala bwino kwambiri m'magazi a calcium, zomwe zimabweretsa kuwerengera koyambirira kwa mitsempha ndi minofu ya mtima. Ndipo odwala 75 peresenti, palinso kachilombo ka aorta pamwamba pa mtima, omwe nthawi zina amafuna opaleshoni. Mwa njirayi, chifukwa cha chiopsezo chachikulu chokhala ndi matenda a mtima, odwala omwe amatchulidwa amatchulidwa kuti ayesedwe kotheratu.