Williams Syndrome ( "Face ELF"): oonobangela, iimpawu, unyango

Williams Syndrome, ebangela, uxilongo, unyango eziza kuqwalaselwa kweli nqaku, i siphene kakhulu inqabile enaso, imbangela yokuqala apho sekunjalo nako ukusombulula intsinda-badala abaphandi. Waye ogama lakhe behlonipha J. cardiologist. Williams, ngubani wayichaza ngokucacileyo ngo-1961. Kodwa igama lokuqala, ngenxa iimpawu yimbonakalo izigulane, ngokufuthi ungaphindi omnye "nazo ELF."

Ngenxa yoko iphuhlisa ngezifo

Williams Syndrome ( "Face ELF") - sisifo yemfuza ezinxulumene ezingaqhelekanga xa chromosomal olungekazalwa. Oko kukuthi, kunye nelahleko isabelo (ukususwa) chromosome wesixhenxe. Abalahlekileyo babizwa ngokuba "ingalo elide chromosome" iqulethe malunga 26 izakhi eyayanyaniswa iimpawu uphawu sigulo (noxa oku kungekho kodwa uninzi lwabo banxibelelane ekhoyo iimpawu izifo).

Ngaphandle kwento yokuba inxalenye ezonakalisiweyo ethile chromosome zezona zofuzo ezibangela kuba iza kuphuhlisa njani kwaye asebenza ingqondo, kukwakho zofuzo ukuba Yindibanisela elastin protini. Kwaye oku kukhokelela kukuba abantwana kunye syndrome echazwe kuvela nje iingxaki kuphela yokuziphatha, ubungqondi kunye nasengqondweni, kodwa ukungaqheleki semithambo, kunye nesifo sentliziyo azalwa (stenosis le aorta kunye pulmonary, ezinokuthi zenzeke ngamnye okanye kunye) .

Njani izigulane kunye Williams syndrome

Inkangeleko labantu abafunyaniswa kunye Williams ( "abantu ELF") syndrome luphawulwa iimpawu ezizodwa:

• babe namehlo esezantsi-amisiweyo, singqongwe Neenkophe idumbile (oko kukuthi oqaphelekayo ingakumbi xa umntu uyahleka);
• nomlomo omkhulu ngemilebe ezipheleleyo kunye overbite;
• ebunzini ebanzi kakhulu;
• impumlo emfutshane, ibhulorho, nesilima kwaye ngeenxa zonke ucacise tip;
• isilevu wakhomba kancinane;
• iindlebe ezisezantsi-set;
• khaxa emva intloko;
• amehlo aluhlaza oqaqambileyo (amehlo, nathi, sibe ithinti oluhlaza)

Ilizwi kwezi zigulane zidla ephantsi husky.

Kodwa asingabo bonke ezi mpawu inokufumaneka umntu omnye. Kwanele ukuba iimpawu ezintathu eziqhelekileyo moshilongo oluchanileyo sifo.

Indlela ukuqaphela Williams syndrome ( "ngobuso ELF")

Ngaphandle kokuba ukubukeka, xa izigulane Williams syndrome ingakumbi iphawulwe nophuhliso kwemisebenzi eliphezulu luvo, ezo ezikhokelela iimpawu ezithile engqondweni.

1. Ukophulwa sensory (yinkqubo apho luvo ifumana imiyalezo evela lafaka, vestibular, ivumba, ukubona, incasa kunye nokuva) nomanyano. Kulo mzekelo, ubuntununtunu isandi yaligqiba kwizigulane.
2. Izigulane okuyingozi kunye ngokulula abawonwabeleyo, udlelwano kakhulu (ngamanye amaxesha obsessively), imo yabo iyahlozinga (amayeza lo msebenzi uchazwe lability emotional).
3. Bathi bakubona landa ixhala, ukoyika itshayelwe bonke abatsha.
4. Luphawulwa ukuphazamiseka izandi pronunciation izakhono (amabinzana) kunye imbono oko kuye kwathethwa (intetho onocwangco).
5. Ngexesha uqeqesho, iingxaki ezi izigulane obonakalayo ekugayeni kunye imisebenzi zezibalo.

Ngale ndlela kubonakala ukukhubazeka engqondweni kwezi bantwana, kubonakala engaqhelekanga. intetho yabo idla aphuhliswe kakuhle ngenxa yobudala babo, ekhululekile yaye bebala ngokweemvakalelo, ukongeza, zabona italente ezicacileyo somculo: pitch egqibeleleyo, ingqiqo enkulu rhythm kunye memory umculo efezekileyo. Baya kuyisombulula loongxaki kwexesha lisikwe elide ukudlala izixhobo zomculo okanye ukuphulaphula imisebenzi, kodwa kunzima ingqalelo naziphi na ezinye izinto.

Ingakumbi psychology of izigulane 'syndrome ELF "

Enye iimpawu ezibalaseleyo "ELF" i zizwana zabo. Abantwana abaphethwe kwesi sifo, ngaphandle ukoyika wayesondela ongengowakuni, ngokulula kubonakale imfesane yaye usoloko ekulungele ukunceda. intetho esilavuzayo yabo komlanjana, bona bencumile kwaye enobubele. Abaphandi ukubaqononondisa lo umsebenzi osemqoka nkcukacha ka-Amygdala wobuchopho lomzimba, ngenxa apho aba bantu ethe kakhulu elungileyo yokubonakalisa le interlocutor, kunye kulingisa ukhohlakeleyo nje ningaqiqi.

Ukuba usana lwakho banesifo "ubuso ELF" (Williams syndrome), uyazi - kuya kuba umntwana ngqo obonisa abangakwaziyo ukuthatha ingqalelo imeko kwaye bewenza yobudenge. Kodwa ukusilela yakhe yengqondo, uya bazimilise umsebenzi ngomlomo njengoko alondolozwe kwaye unxibelelwano elungileyo, nangona amaxesha amaninzi aba bantwana bathethe neefoto, waphula inkalo lwesemantiki ngasentla.

A iimpawu ezimbalwa umdla ngakumbi "ELF"

Abaphandi ukufunda Williams ( "ubuso ELF") syndrome, ebangela, iimpawu zesi sifo, bafumanisa ukuba abantu abanengxaki kuyo ukuba selectivity kakhulu kwi kwimbono ulwazi olubonakalayo efunyenweyo.

Ngoko ke, ukuba ubonisa lo mfanekiso ibhayisekile nomonde uze ngokutsha umfanekiso, ngoko uya kuyenza ngokuchanileyo enkulu, ngaphandle Awunaso iinkcukacha enye. Liyinyaniso elokuba, ivili lokuqhuba, amavili kunye ihamba athe saa kulo lonke iphepha. Kodwa xa umsebenzi ofanayo ufuna ukwenza kunye nomfanekiso ubuso bomntu, uya kubuya avuke, contriving, ukongeza, Izithombe ayikho mbi ngaphezu kwengqondo elungileyo ukuze siqonde uhlobo lomntu.

Izifo ahambisana "syndrome ELF"

Ngelishwa, esi sifo "ubuso Elfa" (Williams syndrome) lubonakaliswa ezininzi ezingaqhelekanga ezihamba izifo ngxabano. Ngoko ke, xa abantwana esi sifo badla amazinyo adlabhuke emva kwexesha, kodwa ebudaleni zikhangeleka laphela yaye kunqabile. Ngapha koko, izigulane kufuneka notyekelo ukubola, ziluma baphuke, inwebu yangaphakathi libe zizibaya zempahla izidlele zatshintsha.

Abantwana kunye syndrome igama kule minyaka yokuqala yobomi ulihlwempu kakhulu ukuba mkhulu kwaye zikhula kancinci, kodwa kamva abaninzi kubo iphelele kwaye ezahlukeneyo looseness umzimba. kunyaka ongaphambili malyshi- "tikoloshe" baphethwe giprekaltsiemii ukuvela ngenxa yokwanda ukufunxeka calcium emathunjini.

Xa izigulane abadala kungathathwa luphawu iimpawu, kunye X-ezimile imilenze ukubuza, Isifuba emxinwa, esinqeni eliphantsi kunye nentamo evuthelweyo. Williams Syndrome ( "Face ELF") ngokufuthi ihamba kunye nezimo kakhulu namalungu, nto leyo ebonakaliswa razgibaemosti yabo yandiswe kunye flatfoot kunye kokukhubazeka. Wafumana ukunyhashwa ezahlukeneyo kwenkqubo musculoskeletal. Lidla Ithemba yosana yaye inguinal, kwezinye izigulane - a dislocation naso kasikrobana.

Njani "ELF syndrome"

Izigulane unesifo "Williams syndrome (umntu ELF)" unyango wafumana kuphela unyango kwangumqondiso, njengoko izifo zofuzo kule mihla kuba unyango oluthile.

Ukuze abantwana ungeniswe esibhedlele kunye hypercalcemia kakhulu, glucocorticoids elawulwa ( "hydrocortisone") kunye nezigulane abadala ngokuqhelekileyo bacebisa esweni rhoqo lwamanqanaba calcium egazini kunye ezityiwa ivithamin D, leyo phantsi kwempembelelo kwinqanaba calcium ukunyuka.

Abantwana kunye syndrome ogama kufuna iiseshini nokuqiniswa nge ngengqondo. Iinkcukacha kunye nabantwana abaphile kwakhona kwezi zigulane kubaluleke gqitha, njengoko idala iziphumo ezincumisayo kuphuhliso olupheleleyo kubo.

Outlook

Izigulane kwafunyaniswa Williams ( "Face ELF") syndrome, zithanda ukuphila ebengaphantsi kancinane nje ngabantu abaqhelekileyo. Iingcali bathi oku kumanqanaba eliphezulu icalcium egazini, esizakukhokelela calcification yokuqala kwemithambo kunye izihlunu intliziyo. Kwaye ngo-75% ezigulane kwakhona abe licuthe le aorta ngentla kanye intliziyo esifuna utyando kwezinye iimeko. Hi ndlela leyi, ngenxa kumngcipheko ophezulu sisifo sentliziyo izigulane igama kucetyiswa ziye kuhlolwa njengesiqhelo.