Ola kino, Maʻi a me nā kūlana
Williams maʻi pale ( "Recycle Elf"): mea, lalau mai, symptoms, lapaʻau
Williams maʻi pale, ke kumu,ʻike, hana maikaʻiʻole o ka mea e e noʻonoʻo i loko o keia 'atikala, Ua pohihihi keia congenital kina, i ka palapala kumu o ka a nō i ole i hiki ke unravel i ka noiʻi. Ua Ua inoa i loko o ka hanohano o J. cardiologist, Williams, ka mea i ho'ākāka 'ia ma ka mea i loko o au mamuli i ka 1961. Akā, i ka inoa mua, no ka mea, o ka mea 'ano o ka helehelena o nā mea maʻi, pinepine hui kekahi "maka Elf."
No ka mea, o ka mea e hoʻomōhala ana i pathology
Williams maʻi pale ( "Recycle Elf") - mea he aaiaoe maʻi pili i abnormalities ma chromosomal fetus. ʻo ia, a me ka poho hapa (moʻolelo holoi) hiku o ka chromosome. I ka nalowale i ka ai-kapaia "lōʻihi lima o ka chromosome" kekahi mau ma kahi o 26 nā'ōewe e pili ana me ka ano hiʻona o ka kāna hana (eia nae keia mea,ʻaʻole i ka hapanui o ia kamaʻilio me na ma ka maʻi symptoms).
Ma waho o ka mea i ka poino hapa o ka chromosome mea na nā'ōewe kuleana no ka mea, e hoʻomōhala, a hana i ka lolo, he mea nō hoʻi nā'ōewe no ka hoʻololi kemikala o ke kumuʻiʻo elastin. A me keia hiki aku i ka mea i na keiki a me ka mea i ho'ākāka 'ia maʻi pale ai ka haohao ana i wale' ano, 'imi naʻauao a me ka manaʻoʻike pilikia, akā, i vascular abnormalities, a me congenital naau mai (stenosis o ka aorta, a me ka pulmonary artery, a e hana pākahi a pau) .
Pehea e hoʻomanawanui iki mai me Williams maʻi pale
Helehelena o ke kanaka diagnosed me Williams ( "Elf kanaka") maʻi pale ua wehewehe aku ma kūikawā hiʻona:
- ka mea i haʻahaʻa-i maka, hoopuniia e pehu lihilihi (i mea kekahi 'oi loa aku hoi, i ka wa i kekahi kanaka kaʻaka);
- he nui waha me ka piha mau lehelehe, a me ka overbite;
- loa lae nui pālahalaha hoʻi;
- pōkole ihu, a me ka ihu uwapo, a puni kūmūmū kōkua;
- chin iki kuhikuhi;
- haʻahaʻa-i mau pepeiao;
- convex hoʻi o ke poo;
- olinolino uliuli maka ('ōnohi a, hoi, i ka bluish tint)
Ka leo o kēia mau patients i IeAUPIIe, IAa IO haʻahaʻa a me ka husky.
Akā,ʻaʻole hiki ke loaʻa a pau o kēia mau hiʻona i loko o kekahi kanaka. He lawa ia i ekolu, he pono ole hiʻona no ka pololeiʻike, o ka mea maʻi.
Pehea eʻike Williams maʻi pale ( "maka Elf")
Kaawale mai ke ano helehelena, i loko o nā mea maʻi me Williams maʻi pale, a pakahi aku la ia ia e ulu ai o ka oi aku ko mākou hopohopo oihana, a haawi ala i nā hiʻona ma ka naau.
- 'Aʻe' ana o sensory hoʻohui '(kaʻina hana ma a na ko mākou hopohopo'ōnaehana loaa mau lepa a mai ka tactile, vestibular, nā dudima, maka, hoao aku la, a me ka hālāwai hoʻolohe manaʻo). Ma keia hihia, ua mahuahua kani pā lonoaʻili i nā mea maʻi.
- Nā mea maʻi i impulsive, a hiki wawe ka excitable, loa sociable (i kekahi manawa, a hiki obsessively), kā lākou naʻau i loko i lolelua ka (ma ka lapaau ua ho'ākāka 'ia ma kēia hiʻona i mea naʻau lability).
- Ka mea, malama māhuahua ka iini, makau kahiliia a pau hou.
- Wehewehe aku ma kāna hana o nā mea kani-ka puana nā mea hiki (expressive 'ōlelo) a me ka pokole o ka mea i olelo mai (kilakila olelo ana).
- Ma aʻo, mau hoʻomanawanui iki mai kekahi 'pilikia me ka digestion me ka makemakika hana.
Ma kēiaʻaoʻao hoike mai ai ia ia iho noʻonoʻo retardation i loko o kēia mau keiki, ka mea nana hana. Lākou mau olelo ua IeAUPIIe, IAa IO pono hoʻomohala no kā lākou mau makahiki, expressive a emotionally nā pōpō, ma ka hou, ka mea malama ahuwale wahine tālena: hemolele kona nui, nui ano o ka pāpana, a me ka hemolele wahine iaiyoe. Ka mea hiki ke hana aku me painstakingly lōʻihi manawa hookani bila paha e hoolohe ana i ka hana, akā, māhunehune kālele ana ma luna o kekahi 'ē aʻe mea.
Pakahi aku la iaʻike manaʻo o nā mea maʻi me ka 'maʻi pale Elf "
Kekahi o na ano poʻokela o "Elf" o kā lākou sociability. Children loaa mai keia maʻi pale, me ka makau o holo mai ana i ka malihini, hoopuni maopopo no ia aloha, a me ka manawa e ae ana e kōkua. Lākou olelo babbling kahawai, ka mea e akaaka a me ka noho aloha pū. Ke noiʻi wehewehe i kēia hiʻona o ka i Kekahi Mau 'o ka amygdala o ka lolo o ke kino, no ka mea, o ka a mau kanaka e loa ikepili koʻikoʻi i ka maikai, olelo o ka interlocutor, a me ka vicious mimicry wale mai e ike.
Inā kou kamaiki ua diagnosed "maka Elf" (Williams maʻi pale), e ike - ia e ia ma ke ala naʻaupō keiki i hiki ole lawe i loko o ka nui o ka pilikia a me ka prone i naaupo. Akā, me kona 'imi naʻauao nele,ʻo ia, e masquerade like kŘpa a malamaia waha' haʻawina a me ka maikai articulation, naʻe pinepine mau keiki olelo inappropriately, ka uhaʻiʻana i ka semantic kēia lākiō o ka luna nei.
A mau oi hana hoihoi hiʻona o "Elf"
Noiʻi këia Williams ( "maka Elf") maʻi pale, kumu, symptoms o ka maʻi, ike ia kanaka e loaa ana mai ka mea i lōʻihi selectivity i loko o ka pokole o ka pilikia makapō 'ike i loaa mai.
No laila, ināʻoe e hōʻike i kēia hoʻomanawanui Hawaii photo paikikala, a kaumaha aku i ka redraw i ke kiʻi, a lailaʻo ia e hana ia me ka nui pololei, me ka nalo he hookahi au mamuli. Oiaio, ke kōmike hoʻokele huila, i nā huila, a me pedals i hoʻopuehuʻia ma luna o ka pepa holoʻokoʻa. Akā, i ka wa a ka mea hookahi no hana e pono ai, e hana me ke kiʻi o ke kanaka i ka maka, e ala no ia,, contriving, ma ka hou, For the mea iʻoi aku ma mua o ka psychologist maikai e puliki i ke ano o ke kanaka.
Maʻi e pili ana i ka "Elf maʻi pale"
Eia naʻe, i ka maʻi "maka Elfa" (Williams maʻi pale) ua hoikea mai oia, i ka likeʻole ma o abnormalities hele pū ana nń ku maʻi. Penei, i na keiki a me keia kāna hana e mālama i ka niho pele ke aumoe, akā, ma ka adulthood ka mea, nana elongated a me ka pohihihi. Oae, nā mea maʻi i ka welelau o e ka palaho, wawahiia nahu, a me ka mucousʻili lahilahi nā pā papalina hoʻololi.
Children me ka maʻi pale i oleloia ma ka makahiki mua o ke ola ka loa ilihune, e loaa ke kaupaonaʻana, a ulu lohi, akā, ma hope he nui wale o ia mau loa a me ka kekahi kino looseness. Prior makahiki malyshi- "elves" e loaa mai ka giprekaltsiemii e hoʻomōhala ana i aie i ka māhuahua omo o ke kalipuna, mai ka liʻiliʻi.
I ka makua e hoomanawanui i hiki ke noʻonoʻo i kekahi ano hiʻona, a me ka X-hoʻokino wāwae posing, ololi thorax, haahaa pūhaka, a elongated'ā'ī. Williams maʻi pale ( "Recycle Elf") pinepine accompanies a excessive kohoʻia o nā ami, a ua hoikeia mai i loko o lākou, a mahuahua nui razgibaemosti a me ka flatfoot a me ka clubfoot. A ua loaʻa nā 'aʻe' ana o ka musculoskeletal nenoaiu. Muli o kona kulana pinepine umbilical a me ka inguinal hernia, ma kekahi hoʻomanawanui iki mai - he congenital dislocation o ka hip-.
Pehea ka "Elf maʻi pale"
Hoʻomanawanui iki mai i kaʻike, o "Williams maʻi pale (Elf kanaka)" lapaʻau loaa wale i kekahi symptomatic Inc, like aaiaoe maʻi kēia manawa ka i ole kekahi kanaka.
No keiki hoʻokomo i ka haukapila me ka nui hypercalcemia, lawelawe glucocorticoids ( "hydrocortisone") a me ka makua hoʻomanawanui iki mai pele waiho aku ana ka mālamaʻana o ke kalipuna pae i loko o ke koko a me kaʻai ana o ka wikamina D, a ma lalo o ke keiki kalipuna pae, piʻi pū.
Children me ka maʻi pale i kapa koi hoʻoikaika 'ana i kau me ka psychologist. Hoʻokaʻaʻike me ka ola na keiki mea hoi no kēia nā mea maʻi loa nui, e like me ka mea hana i ka maikaʻi nā mea kū i loko o ka nohona ma kūpono 'ana no ia.
Outlook
Hoʻomanawanui iki mai diagnosed me Williams ( "Recycle Elf") maʻi pale, kamaʻilioʻana, e noho iki emi o maʻamau kanaka. Poe akamai i ke kaila kēia i nā pae kŘpa a kiʻekiʻe o ke kalipuna i loko o ke koko, entailing i kakahiaka nui calcification o na arteries, a me ka naau Muscle. A i loko o 75% o ka hoʻomanawanui iki mai no hoi i ka hou ana o ka aorta pono ma luna o ka naʻau e ponoʻoki kino i loko o kekahi mau hihia. Ma ke ala, ma muli o ia i ke kamepiula kiʻekiʻe o ka mea'ōnaehana mānowai koko maʻi i kapaʻia nā mea maʻi paipai regular ponopono-UPS.
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