Williams Syndrome ( "I-Face Elf"): izimbangela, izimpawu, ukwelashwa

Williams Syndrome, izimbangela, uphethwe, ukuphathwa zazo ezocatshangelwa kulesi sihloko, kuyinto ehluke ezingavamile isici azalwa naso, imbangela yokuqala engasasetshenziselwa zehlulekile ukuchaza abacwaningi. Wabizwa ngokuthi behlonipha J. wenhliziyo. Williams, owachaza ke ngokuningiliziwe ngo-1961. Kodwa igama lokuqala, ngenxa izici ukubukeka iziguli, ngokuvamile engeza elinye "nazo Elf."

Ngenxa yalokho eba zokugula

Williams Syndrome ( "I-Face Elf") - kuyinto isifo esidluliselwa ngofuzo elihlobene ne kwezinso e chromosomal umbungu. Okungukuthi, nokulahlekelwa ingxenye (ukususa) chromosome lwesikhombisa. Elahlekile okubizwa ngokuthi "ingalo eside chromosome" iqukethe mayelana 26 zofuzo elihlobene ne izici sici sifo (nakuba lokhu okwamanje iningi labo ukuxhumana ekhona e izimpawu isifo).

Ngaphandle kweqiniso lokuthi kwabathile ingxenye ezilimele of chromosome kukhona izakhi zofuzo ezibangela ngeke ukuthuthukisa indlela nokusebenzisa ubuchopho, kukhona izakhi zofuzo ukuze kwezici mithambo ine-elastin amaprotheni. Futhi lokhu kuholela yokuthi izingane sifo echazwe kuphakama izinkinga hhayi kuphela ukuziphatha, bokusungula nengqondo, kodwa futhi kwezinso semithambo, futhi yesifo senhliziyo azalwa naso (stenosis le-aorta ne-pulmonary Umthambo, okungase kwenzeke ngaphambili noma ndawonye) .

kanjani iziguli noWilliams syndrome

Ukubukeka labantu abatholakala noWilliams ( "abantu Elf") syndrome libhekene izici ekhethekile:

• banayo ongaphakeme-isethi amehlo, sizungezwe nezinkophe evuvukele (okuyinto kwaphawuleka ngokukhethekile lapho umuntu uyahleka);
• umlomo omkhulu ngezindebe okugcwele overbite;
• ebunzini ubanzi kakhulu;
• ekhaleni esifushane, nge flat ekhaleni ibhuloho futhi round blunt ithiphu;
• kwesilevu kancane wakhomba;
• ongaphakeme-isethi izindlebe;
• ayizindunduma ngemuva ekhanda;
• amehlo bright blue (zamehlo, futhi, abe tint bluish)

Izwi salezi ziguli ngokuvamile liphansi futhi Husky.

Kodwa akubona bonke laba izici ingatholakala oyedwa. Kwanele ukuba izici ezintathu ezivamile ze-ukusazi ngokunembile isifo esikuphethe lesi sifo.

Indlela ukuqaphela Williams syndrome ( "nazo Elf")

Ngaphandle ukubukeka, in iziguli Williams syndrome ne ikakhulukazi imakwe ukuthuthukiswa imisebenzi ephakeme sezinzwa, okuyinto zisenza sibe ngezici ezithile engqondweni.

1. Ukwephula sezinzwa ukuhlanganiswa (inqubo lapho isimiso sezinzwa uthola zimpawu kusuka ethintekayo, vestibular, iphunga, emehlweni, ukunambitheka kanye nobuso). Kulokhu, ukuzwela umsindo luyanda iziguli.
2. Iziguli kukhona engacabanganga futhi kalula abangothathekile, ubungane (ngezinye izikhathi ngisho ngokweqile), imizwa yabo ingahlalisekanga (kwezokwelapha lesi sici uchazwa ngokuthi lability ngokomzwelo).
3. Babebona ukukhathazeka anda, ukwesaba ishanelwe zonke entsha.
4. Libhekene iziyaluyalu imisindo pronunciation amakhono (ulimi olucacile) futhi bezibona obekushiwo (inkulumo umxhwele).
5. Phakathi nokuqeqeshwa, izinkinga zalezi ziguli obonakalayo ukugaya nge imisebenzi zezibalo.

Ngale ndlela kubonakala retardation engqondo ngalezi zingane, kubukeka engavamile. inkulumo yabo ngokuvamile athuthukiswe kahle bonyaka, ekhululekile futhi anemibala ngokomzwelo, ngaphezu, ayegubha sobala lomculo: iphimbo ephelele, umuzwa omkhulu isigqi kanye inkumbulo zomculo ephelele. Abakwazi ukubhekana isikhathi zakhipha eside ukudlala izinsimbi zomculo noma ukulalela imisebenzi, kodwa ngokulambisa ukugxila yimuphi omunye izinto.

Ikakhulukazi Psychology iziguli 'syndrome Elf "

Enye yezimfanelo esivelele 'Elf "kuyinto sociability yabo. Izingane abaphethwe yilesi sifo, ngaphandle kokwesaba esondela umfokazi, kalula manifest uzwela futhi ohlale ezimisele ukusiza. inkulumo Ukuphoshoza yabo esifuleni, basuke smiling futhi enobungane. Abacwaningi ukuchaza lesi sici imininingwane yalolu amygdala zobuchopho yomzimba, ngenxa okuyinto laba bantu kakhulu sensitive ezinhle kukhona isisho of interlocutor, futhi kulingisa ngonya nje cha perceive.

Uma ingane yakho ukuthi unesifo "ubuso Elf" (Williams syndrome), uyazi - kuzoba ingane ngqo ukuzikhohlisa abangakwazi acabangele isimo futhi athambekele oyisiwula. Kodwa ukuhluleka kangako ngokuhlakanipha kwakhe, yena uyokwenza azenza kuqhathaniswa walondoloza umsebenzi lwamazwi ukuhambisana ezinhle, nakuba ngokuvamile lezi zingane ukukhuluma ngendlela engafanelekile, breaking isici semantic kwalokhu okungenhla.

A izici ezimbalwa ezithakazelisayo ngaphezulu "Elf"

Abacwaningi abahlola Williams ( "ubuso Elf") syndrome, izimbangela, izimpawu zesifo, wathola ukuthi abantu abaphethwe ke babe selectivity ngokwedlulele bezibona ulwazi ezibukwayo wathola.

Ngakho, uma ubonisa lesi sithombe ibhayisikili nesineke futhi anikele Dweba isithombe, khona-ke uyoba ukukwenza ngokunemba okukhulu, ngaphandle kokulahlekelwa imininingwane olulodwa. Yiqiniso, amasondo ayo, amasondo kanye pedals ayahlakazeka phezu lonke ishidi. Kodwa lapho umsebenzi ofanayo udinga ukwenza ngesithombe sobuso bomuntu, wayeyovuka, ekuklameni, ngaphezu, photography akuyona mumbi khulu ukudlula ongakholwako sokusebenza kwengqondo ezinhle ukuqonda ubunjalo indoda.

Izifo ezihambisana i- "syndrome Elf"

Ngeshwa, lesi sifo "ubuso Elfa" (Williams syndrome) kubonakala ezihlukahlukene kwezinso ohambisana isifo ecashile. Ngakho, ngo-izingane lesi sifo bathambekele namazinyo ziqhuma ngasekupheleni, kodwa lapho esemdala Babukeka side futhi ezingavamile. Ngaphandle kwalokho, iziguli ukuthambekela ubole kokusiluma baphuke, ulwelwesi lwamafinyila folds izihlathi washintsha.

Izingane sifo okuthiwa eminyakeni yokuqala yokuphila kuyinto mpofu kakhulu ukuba mkhulu futhi zikhula kancane, kodwa kamuva abaningi babo bangabantu ephelele futhi ezahlukene umzimba Looseness. "Elves" ngonyaka Ngaphambi malyshi- abahlushwa giprekaltsiemii esakheka ngenxa ukumuncwa anda-calcium emathunjini.

In iziguli omdala angabhekwa isici sici, futhi X emise imilenze Ukubuza, thorax ewumngcingo, okhalweni ongaphakeme nentamo side. Williams Syndrome ( "I-Face Elf") uvame ukuhamba nokuvumelana nezimo ngokweqile emalungeni, okuyinto kubonakala razgibaemosti babo yanda futhi flatfoot futhi kokukhubazeka. Futhi wathola ukwephula ahlukahlukene of the system zemisipha. Kaningi hernia enkabeni kanye inguinal kwezinye iziguli - a dislocation azalwa naso we hip.

Kushiwo ngamuphi umqondo ukuthi 'Elf syndrome "

Iziguli kwathiwa unesifo "Williams syndrome (umuntu Elf)" impatho wathola kuphela yokwelapha lingaze, njengoba izifo zofuzo umuntu namuhla abanalo uhlobo oluthile lokwelapha.

Ukuze izingane ungeniswe esibhedlela nge hypercalcemia ezinzima, glucocorticoids iqondiswa ( "hydrocortisone") kanye neziguli omdala Ngokuvamile zitusa nokuqapha okuqhubekayo of izinga le-calcium egazini futhi edonsa uvithamini D, wona ngaphansi kwethonya calcium ezingeni iyakhula.

Izingane sifo okuthiwa kudinga amaseshini oluqinisayo nge kadokotela wezengqondo. Imininingwane nezingane enempilo futhi lezi iziguli kubaluleke kakhulu, njengoba kudala umkhuba omuhle ekuthuthukisweni jikelele ngabo.

ukuba nombono ongafani ngeke

Iziguli ukuthi nginesifo Williams ( "I-Face Elf") syndrome, bavame ukuphila kancane esingaphansi abantu abavamile. Ochwepheshe bathi lokhu kubangwa amazinga kuqhathaniswa eliphezulu le-calcium egazini, entailing calcification ekuseni kwemithambo yegazi kanye imisipha yenhliziyo. Futhi 75% eziguli futhi abe ukuvaleka le-aorta ngenhla nje inhliziyo edinga ukuhlinzwa kwezinye izimo. By endleleni, ngenxa ingozi yezifo zenhliziyo iziguli okuthiwa Kunconywa njalo bayohlolwa.