Contents
He aha ka trisomy 21?
Ke hele mai nei i loko o ka māhele o "chromosomal abnormalities", trisomy kahi moʻolelo o nā chromosomes, ma nā huaʻōlelo ʻē aʻe genetic material. ʻOiaʻiʻo, i loko o ke kanaka me ka maʻi ʻole o Down, hele pālua nā chromosomes. He 23 mau chromosomes i loko o ke kanaka, a i ʻole 46 chromosomes ka huina. Ke kamaʻilio nei mākou no ka trisomy inā ʻaʻole ʻelua mau chromosomes ma ka liʻiliʻi o hoʻokahi o nā hui. Hiki ke hana ʻia kēia anomaly chromosomal i ka wā o ka hāʻawi ʻana i ka hoʻoilina genetic o nā hoa ʻelua, i ka wā o ka hana ʻana i nā gametes (oocyte a me sperm), a laila i ka wā o ka fertilization.
ʻOiai hiki i ka trisomy ke hoʻopilikia i nā ʻelua o nā chromosomes, ʻo ka trisomy 21 ka mea i ʻike nui ʻia, e pili ana i nā pālua 21 o nā chromosomes.
ʻO ka trisomy maʻamau a hiki ke ola, trisomy 21, i kapa ʻia hoʻi Down syndrome, 'ike 'ia ma ka awelika ma 27 hapai mai ka 10. E pi'i ana kona alapine me ka makahiki o ka makuahine. Ua manaʻo ʻia aia ma kahi o 000 poʻe me ka maʻi Down ma Farani (ma kahi o 50 hānau i kēlā me kēia makahiki ma Farani).
E hoʻomaopopo he ʻekolu mau ʻāpana o ka Down's Syndrome:
- manuahi, piha a homogeneous trisomy 21, e hōʻike ana ma kahi o 95% o nā hihia o ka trisomy 21:
Ua hoʻokaʻawale ʻia nā chromosomes 21 ʻekolu mai kekahi i kekahi, pili ka anomaly i ka chromosome 21 holoʻokoʻa a ua ʻike ʻia i loko o nā keʻena āpau i nānā ʻia (ma ka liʻiliʻi o nā mea i kālai ʻia i loko o ka hale hana);
- mosaic trisomy 21:
ʻO nā pūnaewele me 47 chromosomes (me 3 chromosomes 21) noho pū me nā pūnaewele me 46 chromosomes, me 2 chromosomes 21. ʻokoʻa ka ʻāpana o nā ʻāpana ʻelua o nā cell mai kekahi kumuhana a i kekahi, akā mai kekahi okana a i ʻole. hoʻokahi kino i kekahi i loko o ke kanaka hoʻokahi;
- trisomy 21 ma ka unuhi ʻana:
ʻo ke karyotype (ʻo ia hoʻi, ka hoʻonohonoho ʻana o nā chromosomes a pau) e hōʻike ana i ʻekolu chromosomes 21, akā ʻaʻole i hui pū ʻia nā mea a pau. Hiki i kekahi o nā chromosomes 21 ʻekolu me ʻelua mau chromosomes 14, a i ʻole 12 ...
Nā kumu a me nā kumu pilikia o ka maʻi o Down
ʻO ka Trisomy 21 ka hopena ma muli o ka hāʻawi maikaʻi ʻole ʻana o nā chromosomes i ka wā o ka hoʻokaʻawale ʻana o ke kelepona i hana ʻia i ka manawa o ka fertilization. I kēia manawa, ʻaʻole maopopo i ke kumu o kēia hana. Ma kekahi ʻaoʻao, ʻike mākou i ke kumu pilikia nui: ka makahiki o ka makuahine e hiki mai ana.
ʻO ka nui o ka wahine, ʻoi aku ka nui o kona hānau ʻana i ke keiki me ka trisomy, a me ka fortiori me ka trisomy 21. Mai 1/1 a 500 mau makahiki, piʻi kēia probability mai 20/1 a i 1 mau makahiki, a laila 000/30 i 1 makahiki, a mai 100/40 a 1 makahiki.
Ma waho aʻe o ka makahiki makuahine, ʻelua mau kumu pilikia ʻē aʻe i ʻike ʻia no ka loaʻa ʻana o kahi keiki me Down's Syndrome, ʻo ia hoʻi:
- ka loaʻa ʻana o kahi chromosomal abnormality i hoʻopili ʻia me ka chromosome 21 i kekahi o nā mākua (ʻo ia ka hopena i kahi trisomy ma ka unuhi ʻana);
- i ka hānau mua ʻana i kahi keiki me Down's Syndrome.
He aha nā hōʻailona o Down's Syndrome?
Ma waho aʻe o ka hiʻohiʻona hiʻohiʻona o ke poʻo a me ka maka (ke poʻo liʻiliʻi a poepoe, ke aʻa i kaha iki ʻia o ka ihu, ākea nā maka, ʻāʻī liʻiliʻi a ākea, etc.), aia kekahi nā hōʻailona kino ʻē aʻe: strabismus, lima puʻupuʻu a me nā manamana lima pōkole, pōkole (ʻaʻole ʻoi aku ma mua o ʻeono kapuaʻi i ke kanaka makua), ʻino ka leo ʻiʻo (hypotonia), a i kekahi manawa ʻoi aku ka liʻiliʻi o nā hemahema, ka puʻuwai, ka maka, ka hoʻoheheʻe ʻana, ka ʻokiʻoki.
Ua ʻike pū ʻia kahi kīnā o ka naʻauao o nā ʻano like ʻole, e pili ana i nā mana abstraction. E hoʻomanaʻo naʻe, ʻo ka nui a i ʻole ka liʻiliʻi o ke koʻikoʻi o ka deficit naʻauao ʻaʻole ia e kāpae i kahi mana kūʻokoʻa i nā poʻe i hoʻopilikia ʻia. Aia nā mea a pau i ke kākoʻo, ka hoʻonaʻauao a me ka nānā ʻana o kēlā me kēia keiki me Down's Syndrome.
He aha nā hopena a me nā pilikia o Down's Syndrome?
ʻO nā hopena o ka maʻi maʻi o Down ʻaʻohe mea ʻē aʻe i nā hōʻailona e hoʻomaka ai, e hoʻomaka ana me ke kīnā ʻole.
Akā ma waho aʻe o nā hōʻailona maʻamau, hiki i ka trisomy 21 ke hoʻoulu i nā maʻi o ka honua ENT, ʻoi aku ka naʻau o nā maʻi, ka piʻi ʻana o ke kuli ma muli o nā maʻi maʻi pepeiao, nā pilikia ʻike (myopia, strabismus, early cataracts ), epilepsy, joint deformities (scoliosis). , kyphosis, hyperlordosis, luxable kneecaps, etc.) pili i ka ligament hyperlaxity, nā pilikia digestive, nā maʻi autoimmune pinepine, a i ʻole nā maʻi maʻi maʻi ʻoi aku ka nui (ka maʻi leukemia kamaliʻi, lymphoma i ka wā o ke kanaka makua) ...
Nānā: pehea ka hele ʻana o ka hōʻike ʻo Down's syndrome?
I kēia manawa ma Farani, hāʻawi ʻia ka hoʻāʻo screening no ka trisomy 21 i nā wahine hāpai. Aia ia ma kahi mua o kahi hoʻāʻo koko i hui pū ʻia me kahi ultrasound, e hana ʻia ma waena o 11 a me 13 mau pule o ka amenorrhea, akā hiki ke hiki a hiki i 18 mau pule o ka amenorrhea.
ʻO ka hoʻāʻo ʻana o nā serum markers (proteins) i loko o ke koko makuahine, i hui pū ʻia me nā ana ultrasound (nuchal translucency ma ke ʻano) a i ka makahiki o ka makuahine e hiki mai ana, hiki ke helu i ka pilikia o ka hānau ʻana i kahi keiki me Down's syndrome.
E hoʻomanaʻo he mea kūpono kēia a ʻaʻole paʻa. Inā ʻoi aku ka pilikia ma luna o 1/250, manaʻo ʻia he "kiʻekiʻe".
Inā ʻoi aku ka nui o ka pilikia i helu ʻia ma luna o 1/250, hāʻawi ʻia nā hoʻokolohua hou: non-invasive prenatal screening, a i ʻole amniocentesis.
Trisomy 21: he aha ka lāʻau?
I kēia manawa, ʻaʻohe lāʻau lapaʻau e "hoʻōla" i ka trisomy 21. ʻO ʻoe ka mea lawe i kēia chromosomal abnormality no ke ola.
Eia nō naʻe, ke ʻimi ʻia nei nā ala o ka noiʻi, ʻoiai me ka manaʻo, ʻaʻole i ka wehe ʻana i ka chromosome keu, akā no ka hoʻopau ʻana i kona mana. Akā ʻoiai ʻo kēia chromosome ka mea liʻiliʻi loa o kēia, aia ma luna o 250 genes. ʻO ka holoi ʻana a pau, a i ʻole ka hoʻopaneʻe ʻana, hiki ke loaʻa nā hopena maikaʻi ʻole.
ʻO kahi ala ʻē aʻe e aʻo ʻia ana i ka huli ʻana i kekahi mau genes kikoʻī o ka chromosome 21 i keu, i mea e hana ai ma luna o lākou. He mau genes kēia e pili kokoke ana i ke aʻo ʻana, ka hoʻomanaʻo a i ʻole ka paʻakikī o ka naʻau i ka poʻe me Down's Syndrome.
ʻO Trisomy 21: kona hoʻokele
I hiki ai i ke keiki me ka ma'i ma'i Down i kekahi ki'eki'e o ke kuokoa i ka wa makua, a 'a'ole e loa'a i nā pilikia he nui e pili ana i kona olakino, 'oi aku ka nui o ka hahai 'ana i ka lā'au.
No ka mea, ma kahi o nā malformations congenital paha, hoʻonui ka trisomy 21 i ka pilikia o nā maʻi ʻē aʻe e like me hypothyroidism, epilepsy a i ʻole sleep apnea syndrome. No laila, pono ka nānā kino piha i ka wā hānau. e hoʻopaʻa waiwai, akā i nā manawa a pau o ke ola.
Ma nā ʻōlelo o nā mākau kaʻa, ʻōlelo, kamaʻilio, kākoʻo mai kekahi mau loea i mea e kōkua ai i nā keiki me Down's Syndrome e hoʻomohala i ko lākou hiki i ka nui. Pela, nā lāʻau lapaʻau psychomotor, physiotherapists a i ʻole nā mea hoʻoponopono ʻōlelo he poe loea e ike mau ke keiki me ka ma'i Down i mea e holomua ai.
Hoʻolaha ʻia ma ka ʻāina nui o Farani a me nā ʻāina ʻē, hiki i nā CAMSPs, a i ʻole nā kikowaena hana medico-social mua, hiki ke mālama i nā keiki me Down's Syndrome. ʻO nā hana āpau i hana ʻia e nā CAMSP ua uhi ʻia e ka Inikua Ola. ʻO nā CAMSP he 80% i kākoʻo ʻia e ka Primary Health Insurance Fund, a he 20% e ka ʻAha Kūkākūkā nui kahi e hilinaʻi ai lākou.
Mai kānalua ʻoe e kāhea aku i nā hui like ʻole e pili ana i ka Down syndrome, no ka mea hiki iā lākou ke kuhikuhi i nā mākua i nā ʻoihana a me nā hale hiki ke mālama i kā lākou keiki.
ʻO ka World Down Syndrome Day
I kēlā me kēia makahiki, ʻo Malaki 21 ka World Down's Syndrome Day. ʻAʻole i koho wale ʻia kēia lā, no ka mea, ʻo ia ka 21/21, a i ʻole 03/3 ma ka ʻōlelo Pelekania, e ʻōlelo ana i ka hele ʻana o ʻekolu chromosomes 21.
Hoʻonohonoho ʻia no ka manawa mua i ka makahiki 2005, manaʻo kēia lā e hoʻomaopopo ka lehulehu i kēia ʻano maʻi, ʻo ia ke kumu nui o ka hiki ʻana o ka noʻonoʻo i ka poʻe me ke kino kīnā. ʻO ka manaʻo ʻelua e hāpai i ka ʻike no kēia kūlana no ka hoʻohui maikaʻi ʻana o ka poʻe me ka maʻi i loko o ke kaiāulu, a e hoʻomau i ka noiʻi e mālama maikaʻi iā lākou ma ka pae olakino a hoʻonaʻauao.
Nā pūkuʻi like ʻole e hoʻonui i ka ʻike e pili ana i ka maʻi o Down
Hoʻomaka ʻia i ka makahiki 2015 e ka hui ʻo "Down Syndrome International" (DSI) a hoʻouna ʻia e Trisomy 21 France, ʻo ka hana # socksbatlle4Ds (Socks battle for Down Syndrom) e pili ana i ke komo ʻana i nā soka like ʻole no ka World Down Syndrome Day, ka lā 21 Malaki. ʻO ka pahuhopu: e paipai i ka ʻokoʻa a me ka ʻokoʻa, akā e ʻike pū i ke ola o ka poʻe me Down's syndrome a me nā hui e hana nei e kākoʻo iā lākou.