Williams Syndrome ( "Face Elf"): zvinokonzera, zviratidzo, kurapwa

Williams Syndrome, hunokonzera, chirwere, Mabatirwo chichakurukurwa munyaya ino, ndiye zvisinganyanyi kuitika vachiberekwa kuremara, chikonzero yepakutanga icho vachiri vasina kugona kududzira vaongorori. Iye akanzi rokukudza J. cardiologist. Williams, uyo akarondedzera zvizere muna 1961. Asi wokutanga zita nokuda zvechadenga chimiro varwere, inotowedzera mumwe "zvakatarisana Elf."

Nokuda chii anovandudza zvokurwara

Williams Syndrome ( "Face Elf") - iri majini chirwere chokuita abnormalities mu chromosomal mudumbu. Kureva, pamwe kurasikirwa mugove (deletion) chromosome rechinomwe. Vakarasika vanonzi "ruoko hurefu chromosome" rine anenge 26 majini kuti chokuita maitiro zviri chirwere (kunyange ichi haisati vazhinji vavo kukurukura aripo chirwere zviratidzo).

Kunze chokwadi kuti chikamu dzaparadzwa munhu chromosome ndiyo majini anokonzera kuti vave nokushandisa uropi, munewo majini nokuda kwetunhu puroteni elastin. Uye ichi zvinotungamirira chokuti vana pamwe kurondedzerwa chirwere simuka kwete zvounhu, njere uye mupfungwa matambudziko chete, asiwo vascular abnormalities, uye vachiberekwa mwoyo chirwere (stenosis pakati yeropa uye pulmonary tsinga, izvo zvinogona kuitika somunhu kana pamwe chete) .

Sei varwere Williams urwere

Pakuonekwa vanhu chirwere Williams ( "Elf vanhu") chirwere kunoratidzwa chinokosha zvinhu:

• vane yakaderera-yakatarwa maziso, yakapoteredzwa kuzvimba kukotsira (ndiko kunyanya kuoneka kana munhu anoseka);
• Nomuromo guru nemiromo izere uye overbite;
• paupamhi chaizvo huma;
• mhino pfupi, ane furati mhino zambuko uye kumativi gomara muromo;
• chirebvu akataura zvishoma;
• yakaderera-yakatarwa nzeve;
• convex shure musoro;
• inopenya yebhuruu meso (eyeballs, zvakare, vane rinokwanisa kucheneruka tint)

Inzwi varwere izvi kazhinji yakaderera uye husky.

Asi kwete vose izvi zvinhu zvinogona kuwanikwa mumwe munhu. Zvakakwana kuva zvitatu zvakafanana zvinoitwa nokuda chirwere yakarurama chirwere.

Sei kuziva Williams syndrome ( "zvakatarisana Elf")

Kunze maitiro chitarisiko, ari varwere Williams chirwere uye zvikurukuru akacherekedza kugadzira yakakwirira huta mashandiro, iyo kukonzera zvinhu chaizvo zvechiratidzo mupfungwa.

1. Kutyora kutsinga dzinouya kusangana (kwacho umo tsinga anogamuchira anonongedzera kubva tactile, vestibular, kunhuwidza, kuona, kuravira uye kunzwa). Muchiitiko chino, kurira utetsa yakawanda varwere.
2. Varwere vari zvechivhurumukira uye nyore kukakavara, fara nevamwe chaizvo (dzimwe nguva kunyange obsessively), manzwiro avo kusagadzikana (mu mushonga chikamu ichi chinorondedzerwa se mupfungwa lability).
3. Vakaona yakawedzera kufunganya, kutya yakatsvairwa itsva zvose.
4. Dzinoratidzwa zvinetso mazwi madudzirwo mano (mutauro upenyu) uye omumwe zvave (chaizvo kutaura).
5. Panguva nokudzidziswa, varwere ava kuoneka nezvinetso kugaya chete kwemasvomhu kushandiswa.

Nenzira iyi kunoratidza pacharo retardation mupfungwa vana ava, inoratidza kujairika. Kutaura kwavo kazhinji yakatanga zvakanaka zera ravo, upenyu uye mupfungwa yechitema, mukuwedzera, vakaona pachena marimba tarenda: akakwana namo, pfungwa huru mutinhimira uye mimhanzi ndangariro yakakwana. Vanogona kukurira painstakingly refu nguva kuridza zviridzwa kana kuteerera mabasa, asi haawanzotauri kufunga zvimwe zvinhu.

Zvikurukuru zvepfungwa varwere 'urwere Elf "

Mumwe zvinokosha paunhu "Elf" ndiyo sociability yavo. Vana vanenge chirwere ichi, pasina kutya pedyo mutorwa, nyore pachena tsitsi uye nguva dzose achida kubatsira. Dzavo kutaura Kutaurisa parukova, vari kunyemwerera uye ushamwari. Vaongorori tsanangura ichi chinowanikwa chaizvo ari amygdala uropi muviri, nekuda iyo vanhu ava chaizvo kufunga zvakanaka kutaura pamusoro interlocutor, uye utsinye mimicry anongoti musaonesesa.

Kana mwana wako ari chirwere "chiso Elf" (Williams chirwere), imi munoziva - richava zvakananga mano mwana asingagoni kufungawo mamiriro ezvinhu uye kuita zvoupenzi. Asi yake kukundikana zvedzidzo, achaita anoedzesera kuva tichishandisa akachengetedzwa kutukana basa uye nekunyatsotsanangura zvakanaka, kunyange zvazvo kazhinji vana ava vanotaura zvisina kunaka, nokuputsa kupindirana kwemuvanzrira wezvirevo nemabviro zvinoumba zvataurwa.

A shoma kunakidza zviri "Elf"

Vatsvakurudzi kudzidza Williams ( "chiso Elf") urwere, hunokonzera, zviratidzo nehosha, akawana kuti vanhu kutambura mariri vane hwakanyanya selectivity ari maonero ari kutarisana mashoko akapiwa.

Saka, kana ukaratidza Photo ichi murwere bhasikoro uye kupa kuti redraw mufananidzo, ipapo iye achazviita zvakarurama kwazvo, pasina kurasikirwa rimwechete zvizere. Ichokwadi mudhiraivho, Makumbo uye chinoramba chichingorerutsa mitemo vakapararira pamusoro yose jira. Asi kana chete basa unofanira kuita pamwe mufananidzo chiso munhu, aizomutswa, contriving, mukuwedzera, mifananidzo haasi kupfuura wepfungwa akanaka kunzwisisa hunhu wemunhu.

Zvirwere kuti pematanho "Elf urwere"

Zvinosuruvarisa, chirwere "Chiso Elfa" (Williams chirwere) kunoratidzwa zvakasiyana-siyana abnormalities kufamba pane chirwere. Saka, vana vane chirwere ichi zvinoodza mazino kuputika kunopera, asi vakura vanotarisa elongated uye isingawanzowanikwi. Kunze, varwere vane tsika nekuwora, kuputswa kuruma, uye mucous Kamudzira matanga pamatama zvakachinja.

Vana vane chirwere ainzi mumakore okutanga oupenyu ari murombo chaizvo kuti vawane uremu uye kukura zvishoma nezvishoma, asi gare gare vazhinji vavo makazadziswa uye zvakasiyana muviri looseness. "Elves" Asati gore malyshi- vanorwiswa giprekaltsiemii kuti anova nokuda vawedzere Absorção de Água calcium kubva muura.

Varwere mukuru anogona kunzi munhu hunhu chinhu, uye X-zvakaumbwa makumbo posing, yakamanikana thorax, pasi muchiuno uye elongated mutsipa. Williams Syndrome ( "Face Elf") chinowanzoguma uye kunyanya kuchinja kubva mapfundo, iri richiratidzwa avo dzikawanda razgibaemosti uye flatfoot uye clubfoot. Akawana kutyorwa-siyana pamusoro zvetsandanyama nemapfupa hurongwa. Kazhinji achiine rukuvhute uye inguinal heniya, mune vamwe varwere - a vachiberekwa dislocation ari muhudyu.

sei "Elf urwere"

Varwere chirwere kuti "Williams syndrome (Elf munhu)" kurapwa akagamuchira chete symptomatic kurapa, sezvo masero zvirwere mazuva ano hatina marapiro.

Kuti vana vakabvuma kuti chipatara rinorwadza hypercalcemia, dzakabatwa glucocorticoids ( "hydrocortisone") uye varwere mukuru kazhinji kuvakurudzira kuramba richiona calcium siyana muropa uye kudya vhitamini D, izvo pasi pokudzora karusiyamu pamwero inowedzerawo.

Vana vane chirwere ainzi kunoda Kusimbaradza namazvikokota wepfungwa. Contact nevana utano nderwedu varwere izvi zvinokosha zvikuru, sezvo anosika yakanaka kuitika zvinonyatsorehwa kukura kwavari.

mataridzikiro

Varwere nechirwere Williams ( "Face Elf") urwere, kunowanzova kurarama zvishoma zvishoma pane zvavo. Nyanzvi vanoti izvi pfupi yakakwirira nhanho calcium muropa, entailing mangwanani calcification pamusoro arteries uye mwoyo tsandanyama. Uye muna 75% wevarwere vanewo aienda pamusoro yeropa chete kumusoro mwoyo chinoda kuvhiyiwa mune zvimwe zviitiko. Panzira, nokuda kudunhu ngozi zvemwoyo chirwere ainzi varwere yakarumbidza dzose kunoonekwa nachiremba.