Williams na ọrịa ( "Face Elf"): na-akpata, ihe mgbaàmà, ọgwụgwọ

Williams ọrịa, na-akpata, nchoputa, ọgwụgwọ nke a ga-atụle n'isiokwu a, bụ nnọọ obere congenital ntụpọ, ihe mbụ ahụ kpatara nke ka na-enwe ike ịkọwa ihe na-eme nnyocha. Ọ nọ na-aha ya bụ na nsọpụrụ nke J. cardiologist. Williams, onye kọwara ya na zuru ezu na 1961. Ma aha mbụ, n'ihi na nke e ji mara nke ọdịdị nke ọrịa, mgbe mgbe, tinye ọzọ "na-eche ihu Elf."

N'ihi ihe na-amalite daa ọrịa

Williams na ọrịa ( "Face Elf") - bụ mkpụrụ ndụ ihe nketa na ọrịa metụtara na abnormalities na chromosomal nwa ebu n'afọ. Ya bụ, ọnwụ òkè (nhichapụ) asaa chromosome. Nke furu efu na-akpọ "ogologo ogwe-aka nke chromosome" nwere banyere 26 mkpụrụ ndụ ihe nketa na-ejikọta ya na ndị e ji mara atụmatụ nke aghara (ọ bụ ezie na nke a bụ ma ndị ọtụtụ n'ime ha na-ekwurịta okwu na ẹdude ọrịa mgbaàmà).

E wezụga eziokwu na mebiri emebi òkè nke a chromosome bụ mkpụrụ ndụ ihe nketa maka otú ọ ga zụlite ma mee ụbụrụ, e nwekwara mkpụrụ ndụ ihe nketa maka njikọ nke na protein elastin. Na nke a na-eduga ná eziokwu na ụmụaka na kọwara syndrome ibili bụghị naanị omume, ọgụgụ isi na psychological nsogbu, ma na-vaskụla abnormalities, na congenital ọrịa obi na ọrịa (stenosis nke aorta na akpa ume akwara, nke nwere ike ime n'otu n'otu ma ọ bụ ọnụ) .

Olee otú ọrịa na Williams syndrome

Ọdịdị nke ndị mmadụ chọpụtara na Williams ( "Elf mmadụ") syndrome e ji pụrụ iche atụmatụ:

• ha nwere ala-set anya, gbara ya gburugburu aza mbubere (nke bụ karịsịa kwesiri ngosi mgbe mmadụ sọọsọ);
• a nnukwu ọnụ na full egbugbere ọnụ na overbite;
• sara mbara nke ukwuu n'egedege ihu;
• obere imi, na a ewepụghị imi akwa na gburugburu masịrị n'ọnụ;
• agba ubé kwuru;
• ala-set ntị;
• convex azụ nke isi;
• na-egbuke egbuke-acha anụnụ anụnụ na anya (eyeballs, kwa, nwere a bluish tint)

Olu ndị ọrịa a na-na-ala na husky.

Ma ọ bụghị ihe niile nke atụmatụ ndị a nwere ike dị na otu onye. Ọ bụ zuru ezu ka nwere ihe atọ na-atụmatụ maka ezi nchoputa nke ọrịa.

Esi amata Williams syndrome ( "ihu Elf")

E wezụga ndị e ji mara n'ile anya, na ọrịa na Williams syndrome na karịsịa akara mmepe nke elu ụjọ ọrụ, nke na-enye ịrị elu kpọmkwem atụmatụ n'uche.

1. Mebiri nke sensory mwekota (usoro nke na ụjọ usoro na-enweta n'ókè site tactile, vestibular, ísì, n'anya, uto na nti). Na nke a, ụda uche na-ụba na ọrịa.
2. Ọrịa na-eme ihe n'echeghị echiche na-adị mfe excitable, nnọọ awuasara (mgbe ụfọdụ ọbụna na obsessively), ha na ọnọdụ bụ ejighị n'aka (na na nkà mmụta ọgwụ nke a mma na-kọwara dị ka obi lability).
3. Ha hụrụ na ụba nchegbu, egwu kpochapụ niile ọhụrụ.
4. Ji ọrịa nke ụda pronunciation ikike (expressive asụsụ) na uzọ nke ihe e kwuru (nnukwu okwu).
5. Mgbe ọzụzụ, ndị ọrịa a kwesiri ngosi nsogbu na mgbaze na mgbakọ na mwepụ arụmọrụ.

N'ụzọ dị otú a na-egosipụta onwe-eme iberibe na ụmụaka ndị a, ya anya ọhụrụ. Okwu ọnụ ha na-emekarị nke ọma mepụtara n'afọ ndụ ha, expressive na n'ụzọ mmetụta uche acha, ke adianade do, ha hụrụ doro anya musical talent: zuru okè pitch, oké echiche nke n'afọ iri na ụma na a zuru okè musical ebe nchekwa. Ha nwere ike obibi ji nlezianya ogologo oge-akpọ ngwá egwú ma ọ bụ na-ege ntị ọrụ, ma sonso-elekwasị anya na ihe ọ bụla ọzọ ihe.

Karịsịa akparamaagwa nke ọrịa na 'syndrome Elf "

Otu n'ime àgwà ndị magburu nke "Elf" bụ ha sociability. Children ata ahụhụ site na a syndrome, na-enweghị egwu na-eru nso a na-amabughị, mfe pụta ìhè ọmịiko na njikere mgbe nile inyere aka. Okwu ọnụ ha babbling miri-iyi, na ha na-amụmụ ọnụ ọchị na enyi na enyi. The na-eme nnyocha na-akọwa na nke a mma nke kpọmkwem nke amygdala nke ụbụrụ nke ahụ, n'ihi na nke ndị a ndị mmadụ na-nnọọ mwute na ezi okwu nke interlocutor, na ajọ mimicry nanị adịghị aghọta.

Ọ bụrụ na nwa gị na-chọpụtara "ihu Elf" (Williams syndrome), ị maara - ọ ga-abụ a kpọmkwem ghọgbuo nwa na-enweghị ike n'ime akaụntụ na ọnọdụ na-ewekarị nzuzu. Ma ya nwere ọgụgụ isi ọdịda, ọ ga-masquerade dị ka dịtụ ẹnịm ọnụ ọrụ na ezi articulation, ọ bụ ezie na mgbe ụmụaka ndị a na-ekwu okwu na-ekwesịghị ekwesị, na-agbasa na ọmụmụ gbasara asụsụ akụkụ nke ndị e kwuru n'elu.

A ole na ole ọzọ na-akpali atụmatụ nke "Elf"

Researchers na-amụ Williams ( "ihu Elf") syndrome, na-akpata, ihe mgbaàmà nke ọrịa, hụrụ na ndị mmadụ na-ata ahụhụ si na ya nwere oké selectivity na nghọta nke visual ọmụma natara.

Ya mere, ọ bụrụ na ị na-egosi nke a ndidi foto ịnyịnya ígwè na-enye redraw oyiyi, mgbe ahụ ọ ga-eme ya na-akwa ziri ezi, na-enweghị na-efu a otu nju. N'eziokwu, n'iru wheel, wiil na pedal ndị gbasara n'elu dum mpempe akwụkwọ. Ma mgbe otu ọrụ dị mkpa ka ị rụọ na ihe oyiyi nke a onye ihu, ọ ga-ebili, n'ichepụta, ke adianade do, foto bụ bụghị njọ karịa a ọma ọkà n'akparamàgwà mmadụ ịghọta odidi nke madu.

Ọrịa na-eso ndị "Elf syndrome"

N'ụzọ dị mwute, ọrịa "ihu Elfa" (Williams syndrome) na-egosipụta na a dịgasị iche iche nke abnormalities soro kpatara ọrịa. N'ihi ya, na ụmụ ya na nsogbu a na-ezé isu mbubreyo, ma na-etoru ogo mmadụ ha na-ele elongated na obere. E wezụga, ọrịa nwere ọchịchọ ere ere, agbajikwa aru, na mucous akpụkpọ ahụ ogige cheeks gbanwere.

Children na syndrome aha ya bụ na mbụ afọ nke ndụ bụ nnọọ ogbenye nweta arọ na-eto eto nwayọọ nwayọọ, ma mgbe e mesịrị, ọtụtụ n'ime ha bụ ndị zuru okè, dị iche iche n'ahụ looseness. Tupu afọ malyshi- "elves" na-ata ahụhụ site na giprekaltsiemii na-amalite n'ihi ụba absorption nke calcium na eriri afọ.

Na okenye ọrịa nwere ike-atụle ihe e ji mara atụmatụ, na X ekara ụkwụ N'ime, warara ǹgụ, ala n'úkwù na elongated n'olu. Williams na ọrịa ( "Face Elf") mgbe esokwa na ịṅụbiga mgbanwe nke nkwonkwo, nke na-egosipụta na ha na ụba razgibaemosti na flatfoot na ụkwụ ncheihu n'elu. Na hụrụ dị iche iche imebi nke nweekwa usoro. Ọtụtụ mgbe n'ime eriri na inguinal hainia, na ụfọdụ ndị ọrịa - a congenital na eze nke hip.

Olee otú "Elf syndrome"

Ọrịa na a nchoputa nke "Williams syndrome (Elf onye)" ọgwụgwọ natara naanị a symptomatic ọgwụ, dị ka mkpụrụ ndụ ihe nketa ọrịa n'oge na-enweghị kpọmkwem ọgwụgwọ.

Maka ụmụ ọhụrụ kwetara na ụlọ ọgwụ na a oké hypercalcemia, ndinọ glucocorticoids ( "hydrocortisone") na okenye ọrịa na-emekarị nwere ike ikwu na-aga n'ihu nlekota nke calcium etoju ke ọbara na oriri nke vitamin D, nke n'okpuru nduzi calcium larịị na-abawanye.

Children na syndrome aha ya bụ na-achọ ike sessions na a ọkà n'akparamàgwà mmadụ. Kpọtụrụ na mma ụmụ bụkwa n'ihi ndị ọrịa a dị ezigbo mkpa, dị ka ọ na-emepụta a mma-emekarị n'ozuzu mmepe maka ha.

ele ihe anya

Ọrịa chọpụtara na Williams ( "Face Elf") syndrome, agbasaghị ndụ ubé erughị mmadụ nkịtị. Ọkachamara na-ekwu nke a na dịtụ elu etoju nke calcium na ọbara, entailing n'oge calcification nke akwara ndị gara na obi muscle. Na na 75% nke ndị ọrịa na-enwe na a ibelata nke aorta dị n'elu obi na-achọ ịwa ahụ na ụfọdụ. Site n'ụzọ, n'ihi na elu n'ihe ize ndụ nke ọrịa obi aha ya bụ ọrịa na-atụ aro mgbe ego-acha ọkụ.