Contents
He aha ka Trisomy 18?
Kuhi ʻia ʻo Trisomy 18 e ka loaʻa ʻana o kahi chromosome 18 keu, ma loko o kekahi mau huna o ke kino a i ʻole i loko o kēlā me kēia keena. Ua ʻike ʻia ʻelua ʻano o ka maʻi a kaukaʻi ʻia ka paʻakikī o Down's syndrome.
Ka wehewehe ʻana o Trisomy 18
ʻO Trisomy 18, i kapa ʻia ʻo "Edwards Syndrome" kahi maʻi i hoʻokumu ʻia e nā kino chromosomal. Hoʻomaopopo ʻia ia e nā ʻano ʻē ma nā ʻāpana like ʻole o ke kino.
ʻO nā mea maʻi me Trisomy 18 maʻamau i nā haunaele ulu ma mua o ka hānau ʻana (intrauterine ulu retardation). a me ke kaupaona haʻahaʻa haʻahaʻa. Hiki i nā hōʻailona ʻē aʻe ke pili i ka maʻi: hōʻeha puʻuwai, nā hemahema o nā mea ʻē aʻe, a pēlā aku.
Hoʻokomo pū ʻia ʻo Trisomy 18 i kekahi mau ʻano ʻē aʻe: ke ʻano maʻamau o ka iwi poʻo o ke keiki, ka iwi ʻuʻuku a me ka waha hāiki, a i ʻole nā pulimaʻī i hoʻopili ʻia a me nā manamana lima i hoʻopili ʻia.
Hiki i kēia mau hoʻouka kaua like ʻole ke lilo i mea nui no ke keiki. I ka hapa nui o nā hihia, make kahi keiki me trisomy 18 ma mua o ka hānau ʻana a i ʻole ma mua o kāna mahina mua.
ʻO nā kānaka i ola ma hope o ka malama mua he mau kīnā koʻikoʻi koʻikoʻi lākou.
Pili ka pilikia o Down's Syndrome me ka hāpai ʻana i ka wahine o nā makahiki. Hoʻohui ʻia, hoʻonui ʻia kēia pilikia i ka pōʻaiapili o ka hāpai hāpai ʻana.
Ua wehewehe ʻia ʻelua ʻano kikoʻī o ka maʻi.
- la pepa piha : e pili kokoke ana iā 94% o nā pēpē me Down's syndrome. Hoʻohālikelike ʻia kēia ʻano me ke kū ʻana o kahi kope pākolu (ma kahi o ʻelua) o chromosome 18, i kēlā me kēia o nā hunaola o ke kino. ʻO ka hapa nui o nā pēpē me kēia ʻano e make ma mua o ka pau ʻana o ka hāpai.
- la kinona mosaic, kahi e hoʻopili ai ma kahi o 5% o nā pēpē me trisomy 18. I kēia ʻano, ʻike maʻalahi ʻia ke kope ʻekolu o ka chromosome 18 i loko o ke kino (i kekahi mau huna wale. ʻOi aku ka paʻakikī o kēia palapala ma mua o ka palapala piha.
No laila ke kaumaha o ka maʻi ma muli o ke ʻano o ka trisomy 18 a me ka helu o nā pūnaewele i loaʻa kahi kope o ka chromosome 18, i loko.
Nā kumu o Trisomy 18
ʻO ka hapanui o nā hihia o Trisomy 18 ka hopena ma ke alo o kahi kope triple o chromosome 18, ma loko o kēlā me kēia keena o ke kino (ma kahi o ʻelua kope).
ʻO 5% wale nō o kēlā me kēia kanaka me Trisomy 18 i loaʻa i hoʻokahi a nui loa, i kekahi mau pūnaewele wale nō. ʻO kēia hapa liʻiliʻi o nā mea maʻi ʻaʻole haʻahaʻa i ka makaʻu o ka make ma mua o ka hānau ʻana, a i ʻole ma mua o ka mahina mua o ke keiki.
ʻOi aku ka liʻiliʻi, hiki i ka lima lōʻihi o chromosome 18 ke hoʻopili (translocate) i kahi chromosome ʻē aʻe i ka hana hou ʻana o ka cell a i ʻole ka ulu ʻana o ka embryonic. Ke alakaʻi nei kēia i ke alo o ke kope lua o chromosome 18, hui pū ʻia me ka loaʻa ʻana o kahi chromosome hou 18, a no laila i 3 chromosome 18.
ʻO wai ka mea i hoʻopilikia ʻia e Trisomy 18?
ʻO ka pilikia o Trisomy 18 e pili ana i kēlā me kēia hāpai. Eia kekahi, ua hoʻonui ʻia kēia pilikia i ka hoʻonui ʻana o ka makahiki o ka wahine hāpai.
Ka hoʻolālā a me nā pilikia kūpono o Trisomy 18
I ka hapa nui o nā hihia o Trisomy 18, pili pū ka make ʻana o ke keiki ma mua o ka hānau ʻana, a i ʻole ma ka mahina mua. Inā ola ke keiki, ʻike ʻia paha ke ʻano o ke ʻano o ka noho ʻana: ka lohi o ka hoʻomohala ʻana i kekahi mau lālā a me / a i ʻole nā kino, nā kīnā ʻole o ka naʻau, etc.
Nā ʻōuli o Trisomy 18
ʻO nā hōʻailona hōʻailona a me nā ʻōuli laulā e like paha me Trisomy 18:
- he poʻo liʻiliʻi ma mua o ka awelika
- papalina hakahaka a me ka waha haiki
- nā manamana lōʻihi e hoʻopili
- hoʻohaʻahaʻa loa nā pepeiao nui
- deformities i ka lehelehe cleft
Hiki ke ʻike ʻia nā hiʻohiʻona ʻē aʻe o ka maʻi.
- ʻino a me ka puʻuwai puʻuwai
- hōʻole e hānai, alakaʻi i nā hemahema i ka ulu ʻana o ke keiki
- ka pilikia
- ke alo o hernias i loko o ka ʻōpū
- nā mea kūpono ʻole i ka ʻōnaehana iwi a ma ka iwi kuamoʻo
- nā pilikia aʻo nui.
Nā kumu pilikia no Down's syndrome
ʻO ke kumu pilikia no ka hoʻomohala ʻana o Trisomy 18 he genetics.
ʻOiaʻiʻo, ke kū nei o kahi kope kope ʻekolu o ka chromosome 18, ma loko o kekahi mau pūnaewele wale nō a i kēlā me kēia cell o ka meaola, hiki ke alakaʻi i ka ulu ʻana o ia ʻano ʻano pilikino.
Pehea e mālama ai iā Trisomy 18?
ʻAʻohe lapaʻau no Trisomy 18 i kēia manawa. Hoʻopono ka mālama ʻana i kēia maʻi e ka hui olakino multidisciplinary.
Hiki ke kuhikuhi ʻia i nā lāʻau lapaʻau, a ʻo kēia i loko o ka pōʻaiapili o nā puʻuwai puʻuwai, nā maʻi, a i ʻole nā pilikia ʻai.
La maʻi physiotherapy hiki ke mālama ʻia no Trisomy 18, ʻoiaʻiʻo inā pili ka ʻenemi a me nā ʻōnaehana iwi.