Williams Syndrome ( "Kanohi Elf"): take, tohu, maimoatanga

Williams Syndrome, ai, te tātaritanga, maimoatanga o nei e whakaaro i roto i tenei tuhinga, he koha congenital āhua onge, te take taketake o e kore i tonu i taea ki te matakawa te kairangahau. i huaina e ia i roto i te honore o J. mafatu. Williams, e whakaahuatia ana e ia i roto i te taipitopito i roto i te tau 1961. Ko te ingoa tuatahi, no te mea o te āhuatanga o te ahua o tūroro, maha tāpiri tetahi "fehangahangai Elf."

No te mea o te mea whakawhanake māuiuitanga

Williams Syndrome ( "Kanohi Elf") - ko te mate iranga e pā ana ki abnormalities i roto i te pūira kukune. Ara, me te mate wahi (mukunga) whitu o pūira. Ko te ngaro te "ringa roa o te pūira" pera-ka karanga kei pā ana ki 26 ira e pā ana ki te āhuatanga āhuatanga o te whakararuraru, (ahakoa kahore he ano tenei te nuinga o ratou kōrero ki ngā i roto i ngā tohu mate).

Haunga te meka e te wahi pakaru o te pūira ko nga ira kawenga mō pehea e whakawhanake reira, ka whakahaere i te roro, i reira e ano ira mo te kōtuitui o te elastin pūmua. A arata'i tenei ki te meka e whakatika tamariki ki te syndrome whakaahuatia kore raruraru anake whanonga, hinengaro, me te hinengaro, engari ano hoki abnormalities iaia, me te mate ngakau congenital (stenosis o te haoraora me te iatuku pūkahukahu, e kia puta takitahi tahi ranei) .

Kia pehea te he tūroro ki Williams syndrome

Āhua o te iwi pāngia ki Williams ( "tangata Elf") te āhuatanga syndrome e ngā āhuatanga motuhake:

• whai ratou kanohi iti-i whakaritea, e karapotia ana e kamo tetere (i te mea rawa kite ina kata he tangata);
• he mangai nui ki ngutu tonu, me te overbite;
• rae rawa whanui;
• ihu poto, ki te piriti ihu parehe, me te matamata puhuki a tawhio;
• paku tohu kauwae;
• iti-i whakaritea taringa;
• ohu nei hoki o te matenga;
• kanohi puru kanapa (nenewha, rawa, i te kauruku kikorangi)

He iti, me te Husky te tikanga te reo o enei tūroro.

Otiia e kore e taea e kitea katoa o enei āhuatanga i roto i te tangata kotahi. Ko reira rawaka ki te whai āhuatanga noa e toru hoki tātaritanga tika o te mate.

Me pēhea te ki te mohio ki Williams syndrome ( "fehangahangai Elf")

I tua atu i te ahua āhuatanga, i roto i tūroro ki Williams syndrome, me te tino tohua whanaketanga o ngā mahi teitei io, e hoatu ara ki ngā āhuatanga motuhake i roto i te ngakau.

1. Tūkinotanga o rongo tuitui (tukanga i roto i nei e tango i te pūnaha io tohu i te tūturu, vestibular, haunga, titiro, reka, me te rongo). I roto i tenei take, nui haere te tūtohutanga tangi i roto i tūroro.
2. He rere totoa a ngāwari ka hikaka tūroro, whakahoahoa rawa (i ētahi wā noa obsessively), he iu to ratou huru (i roto i te rongoa whakaahuatia tenei āhuatanga e rite lability aronganui).
3. titiro hoki nui haere ratou manukanuka, kahakina hou katoa wehi.
4. Āhuatanga e disorders o oro whakahua aravihi (reo expressive) me te tirohanga o te mea kua mea (reo faahiahia).
5. I roto i te whakangungu, raruraru enei tūroro kitea ki te nakunaku ki ngā mahi pāngarau.

I roto i faaite i tenei ara ake te retardation hinengaro i roto i enei tamariki, titiro reira rerekē. Kei te nuinga o te wā pai whakawhanakehia ratou kupu mo ratou tau, whakaputa, me te fakaeongo tae, i roto i te tua, kite ratou kitea taranata waiata: te ware tino, tikanga nui o te manawataki me te mahara waiata tino. Ka taea e ratou te mahi ki te wa maitai roa tākaro mea whakatangi whakarongo ki nga mahi ranei, engari e papaki ana arotahi ki runga i tetahi atu mea.

Ngā hinengaro o te tūroro ki te 'syndrome Elf "

Ko tētahi o nga mau huru faahiahia o "Elf" Ko to ratou sociability. e mate ana tamariki i tenei syndrome, kahore te wehi o te tata i te tangata ke, ngāwari kitea aroha, me te tonu pai ki te āwhina i. Ratou awa kupu ngutu, kei te ataata ratou me hoa. Ko te kairangahau whakamārama tenei āhuatanga o te pau o te amygdala o te roro o te tinana, no te mea o nei e tino tairongo ki te pai i enei iwi faaiteraa o te interlocutor, me tāwhai nanakia noa e kore e kite.

Ki te pāngia tō pēpi te "Elf mata" (Williams syndrome), e mohio ana koe - ka waiho i te reira i te tamaiti kuware tika e kore e taea e te tangata e tango i ki pūkete te āhuatanga, me te e pängia ana ki whakaarokore. Ko tona kore hinengaro, ka whakaahua ke ia rite āhua tiaki mahi waha, me te wahapū pai, ahakoa maha korero hē enei tamariki, whawhati te āhuatanga pū o te mua.

He torutoru ngā āhuatanga ake ngā o "Elf"

Kairangahau ako Williams ( "mata Elf") syndrome, ai, tohu o te mate, i kitea e te iwi e mate ana i reira i selectivity tino i roto i te tirohanga o te kōrero ataata riro.

Na, ki te whakaatu koe i tenei pahikara whakaahua manawanui me te whakahere ki te tuhi anō i te whakapakoko, na ka meatia e ia i te reira ki te tika nui, kahore ngaro te taipitopito kotahi. Pono, te wira urungi, kua marara te wira me taumanu i runga i te rau katoa. Otira ka hiahia koe te mahi taua ki te mahi ki te whakapakoko o te mata o te tangata, e ara ia, māu, i roto i te tua, ko kore kino atu i te kaimātai hinengaro pai ki te taa i te natura o te tangata whakaahua.

Diseases e tahi i te "syndrome Elf"

Kia aroha mai, whakakitea te mate "mata Elfa" (Williams syndrome) Kei roto i te momo o abnormalities tahi mate whāriki. Ko te kupu, i roto i te tamariki ki tenei mate ahu ki niho ngā puia te mutunga, engari i roto i te paariraa titiro ratou elongated me onge. Haunga, tūroro i te haafifi i ki pirau, ngau pakaru, me nga taiepa membrane mucous ke paparinga.

Tamariki ki te syndrome ingoa i roto i nga tau tuatahi o te ora, ko te tino rawakore ki te riro taimaha, me te āta tupu, engari i muri tokomaha o ratou e oti, me te rerekē looseness tinana. Mua tau malyshi- "tēvolo" e mate ana i giprekaltsiemii e whakawhanake tika ki nui haere absorption o te konupūmā i te paru.

I roto i te tūroro pakeke taea te whakaaro he āhuatanga āhuatanga, ko X-āhua waewae papa◊iraa i, ãpoko kuiti, hope iti me te kaki elongated. maha Williams Syndrome ( "Kanohi Elf") tahi me te ngäwari nui o nga hononga, whakakitea nei i roto i to ratou razgibaemosti nui haere me te flatfoot me clubfoot. Na ka kitea ngā maumaui o te pūnaha musculoskeletal. Tino maha whaturama pito, me te inguinal, i roto i te tahi mau tūroro - he raruraru congenital o te huha.

Kia pehea te he "syndrome Elf"

Tūroro ki te tātaritanga o "syndrome Williams (tangata Elf)" riro maimoatanga anake te therapy symptomatic, rite mate ira enei i kahore maimoatanga motuhake.

Hoki ngā pēpi uru ki te hōhipera ki te hypercalcemia nui, glucocorticoids whakahaere ( "hydrocortisone") me tūroro pakeke te tikanga tūtohu aroturuki tonu o ngā taumata konupūmā i roto i te toto me te horomanga o te huaora D, i raro i nga piki taumata konupūmā mana.

Tamariki ki te syndrome ingoa titau wā whakapakari ki te kaimātai hinengaro. Ko hoki Whakapā ki ngā tamariki hauora mō enei tūroro tino nui, kia rite hanga reira he au pai i roto i te whanaketanga whānui hoki ratou.

outlook

Tūroro pāngia ki Williams ( "Kanohi Elf") syndrome, ahu ki te ora paku iti iho i te iwi noa. Tohunga ahua tenei ki te taumata āhua teitei o te konupūmā i roto i te toto, entailing calcification wawe o nga pera, me te uaua ngakau. A i roto i te 75% o tūroro i hoki he whāiti o te haoraora tika i runga i te ngakau e titau pokanga i roto i ētahi wā. E te ara, e tika ana ki te mōrearea tiketike o te mate Cardiovascular ingoa tūroro auau Taki-ups tūtohu.