Ma ke ʻano he makuahine a makua kāne paha, hopohopo nui mākou i nā mea liʻiliʻi a pau e pili ana i kā mākou keiki, ʻeā? ʻO kona ulu ʻana, kona helehelena, kāna ʻano... Hoʻolohe mākou i kēia mau mea a pau. I kekahi manawa, ke ʻike mākou i kekahi mau loli liʻiliʻi i ke ʻano o ke keiki, no ka laʻana, kahi manamana wāwae nui i hoʻonui iki ʻia, a i ʻole nā lohi liʻiliʻi i ka ulu ʻana, makaʻu iki mākou. I kēlā mau manawa, pono mākou e makaʻala i kahi maʻi genetic kakaʻikahi akā koʻikoʻi. ʻO ia ka Rubinstein-Taybi Syndrome.
He aha ka maʻi Rubinstein-Taybi (RTS)?
I ka ʻōlelo maʻalahi, ʻo ka Rubinstein-Taybi Syndrome kahi maʻi genetic kakaikahi e hoʻopilikia ana i kekahi mau ʻōnaehana i loko o ke kino. Ua pōkole ʻia ʻo RTS. ʻO nā hōʻailona nui i ʻike ʻia i nā keiki me kēia maʻi, ʻo ia nā manamana wāwae nui a me nā manamana wāwae nui ākea ʻole , kekahi mau hiʻohiʻona helehelena ʻokoʻa, a me nā lohi o ka ulu ʻana .
Ua wehewehe mua ʻia kēia ʻano maʻi i ka makahiki 1957. Eia naʻe, ʻaʻole a hiki i ka makahiki 1963 i ʻike maopopo ʻia ai he maʻi e nā kauka ʻelua, ʻo Kauka Jack Rubinstein lāua ʻo Kauka Hooshang Taybi. Ua hoʻohana ʻia ko lāua mau inoa no kēia maʻi.
He aha nā hōʻailona nui o ka RTS?
ʻAʻole nā keiki a pau me RTS e loaʻa i kēia mau hōʻailona āpau. Eia nō naʻe, aia kekahi mau hōʻailona maʻamau. E hoʻokaʻawale kākou i kēia i ʻelua mau ʻano maʻalahi e hoʻomaopopo.
| ʻAno hiʻohiʻona | Nā mea e ʻike ai |
|---|---|
| Nā Hōʻailona Maka | |
| Kūlana maka | Kūlou nā kihi o waho o nā maka i lalo a piʻi ka mamao ma waena o nā maka. |
| Lihilihi maka | Ka lihilihi ʻana o ka maka (Ptosis) . |
| Kuʻemaka | Nā kuʻemaka kiʻekiʻe loa. |
| Nā maʻi | Nā maʻi maka pinepine ma muli o ke ālai ʻia ʻana o nā aʻa waimaka. |
| Nā hōʻailona ʻē aʻe o ke kino (Non-Ocular Symptoms) | |
| Nā lima a me nā wāwae | ʻOi aku ka laulā o nā manamana wāwae nui a me nā manamana wāwae ma mua o ka maʻamau a i kekahi manawa kūlou. |
| Ka ulu ʻana | Kino pōkole ma muli o ka lohi o ka ulu ʻana o ka iwi. |
| Poʻo a me ka maka | Poʻo liʻiliʻi (Microcephaly) , ihu e like me ka nuku, alahaka ihu ākea, piʻo i luna o ka lehelehe luna, ʻāwae liʻiliʻi lalo. |
| Nā hiʻohiʻona ʻē aʻe | Nā pilikia hānai, nā maʻi hanu pinepine, nā kīnā o ka puʻuwai, nā puʻupaʻa, a me ke kuamoʻo, ka ulu nui ʻana o ka lauoho, a me nā hua manu i iho ʻole i lalo i nā keikikāne. |
Nā loli i ʻike ʻia i ka ulu ʻana a me ke ʻano
Ma waho aʻe o nā hōʻailona kino, hiki i nā keiki me RTS ke loaʻa i kekahi mau lohi a me nā loli i ka ulu ʻana a me ke ʻano.
Nā lohi noʻonoʻo a me ke aʻo ʻana
ʻOkoʻa paha ka ulu ʻana o ka noʻonoʻo o nā keiki me RTS ma mua o nā keiki maʻamau. ʻOkoʻa ka nui o kēia lohi mai kekahi keiki a i kekahi. Loaʻa paha i kekahi kahi lohi iki, aʻo kekahi paha he lohi nui aʻe. Loaʻa paha iā lākou ka pilikia me ka noʻonoʻo ʻana, ke aʻo ʻana i nā mea hou, a me ka hoʻoponopono pilikia. ʻIke pinepine ʻia kēia i ka wā e hoʻomaka ai ke keiki i ke kula.
Nā lohi i nā mākau kino a me nā mākau neʻe
He haʻahaʻa pinepine ka leo o nā ʻiʻo o kēia mau keiki. Hiki i kēia ke alakaʻi i ka lohi o nā hana kino e like me ka ʻōwili ʻana, ka noho ʻana i luna, a me ka hele wāwae. Loaʻa paha iā lākou nā pilikia me ke kaulike a me ka kaohi ʻana i ka neʻe ʻana.
Nā lohi i ka ʻōlelo a me ke kamaʻilio ʻana
Ma kahi o 90% o nā keiki me RTS e lohi nui ana i ka ulu ʻana o ka ʻōlelo. ʻO kekahi o nā hōʻailona mua o kēia, ʻo ia ka paʻakikī i ka ʻai ʻana , no ka mea, ʻo ka ʻai ʻana a me ka ʻōlelo ʻana e pono ai ka hoʻonohonoho maikaʻi ʻana o nā ʻiʻo o ka waha a me ke alelo.
E hoʻomanaʻo, ʻaʻole hiki mai kēia mau lohi a pau i kēlā me kēia keiki. Eia kekahi, hiki ke hoʻomohala ʻia kēia mau mākaukau me ka mālama pono ʻana a me ka lāʻau lapaʻau.
He aha ke kumu o kēia kūlana?
Ke haʻi ʻia aku he maʻi hoʻoilina kēia, hopohopo paha kekahi mau mākua he mea kēia i hoʻoilina ʻia e lākou.
He mea nui e hoʻomaopopo i ka hapa nui o ka manawa, ua hoʻokumu ʻia kēia maʻi e kahi hoʻololi genetic hou i loko o ke kino o ke keiki. ʻO ke ʻano kēia , ʻaʻole ia i hoʻoilina ʻia mai ka makuahine a i ʻole ka makuakāne. No laila, no kahi kāne olakino me kahi keiki me RTS, ʻo ka pilikia o kā lāua keiki aʻe e loaʻa i ke ʻano ma lalo o 1%.
Eia nō naʻe, he mea kākaʻikahi loa, inā loaʻa i kekahi makua ke kūlana RTS, aia he 50% ka manawa e hoʻoilina ai ke keiki i ka gene. ʻO ke kumu nui o kēia ma muli o nā loli i loko o nā genes CREBBP a me EP300 .
Pehea e ʻike ai i ke kūlana o ka RTS?
I ka manawa pinepine, e ʻike ke kauka i kēia kūlana ma ka nānā ʻana i nā ʻano kino o ke keiki, ʻoiai hoʻi nā manamana wāwae ākea, nā maka e kūlou ana i lalo, a me ka lehelehe luna i hoʻokiʻekiʻe ʻia.
No ka hōʻoia ʻana i kēia hōʻailona, hana ʻia nā hoʻokolohua hou aʻe i kekahi manawa.
- Nā kukuna X: E nānā i nā loli kikoʻī i nā iwi o nā lima a me nā wāwae.
- Nā scan lolo: E nānā i ka hana uila o ka lolo.
- Hoʻāʻo Genetic: Hiki ke hana ʻia kēia hoʻāʻo e hōʻoia inā he mau hoʻololi genetic e pili ana me RTS. Eia nō naʻe, ʻaʻole paha i ʻike ʻia kēia hoʻololi genetic e kekahi mau keiki me RTS ma o ka hoʻāʻo ʻana.
Hiki ke ʻike ʻia kekahi mau keiki i ka wā hānau. ʻO kekahi poʻe, ʻike ʻia ma hope iki. Aia ia i ke koʻikoʻi o nā hōʻailona.
He aha nā lāʻau lapaʻau no kēia?
ʻO ka mea mua, ʻaʻohe lāʻau lapaʻau no RTS, akā hiki ke mālama ʻia a hiki i ke keiki ke alakaʻi i kahi ola holomua ma o ka hoʻomohala ʻana i ko lākou mau hiki a me ka mālama ʻana i kā lākou mau hōʻailona .
Hoʻoholo ʻia ka hoʻolālā lapaʻau e nā hōʻailona o ke keiki. He hana hui kēia.
ʻO ia hoʻi, ʻaʻole hoʻokahi kauka wale nō,Hana pū nā kauka pediatric, nā kauka cardiologist, nā kauka orthopedist, nā loea pepeiao, ihu, a me ka ʻāʻī, a me nā mea hoʻōla ʻōlelo e hoʻolālā i ka lāʻau maikaʻi loa no ke keiki.
Eia kekahi o nā ʻano lapaʻau nui:
- Nānā mau ʻia: Nānā ʻia ka ulu ʻana o ke keiki me ka hoʻohana ʻana i nā pakuhi ulu kūikawā. Eia kekahi, nānā ʻia nā maka a me nā pepeiao i kēlā me kēia makahiki.
- ʻOki kino: Inā kūlou nā manamana lima a me nā manamana wāwae a i ʻole he mau kīnā i nā ʻōpū e like me ka puʻuwai a me nā puʻupaʻa, pono paha ke ʻoki kino e hoʻoponopono iā lākou.
- Nā Lapaʻau: He mea nui loa kēia. He mea nui loa nā mea e like me ka Lapaʻau ʻŌlelo, ka Lapaʻau Kino, a me ka Lapaʻau Behavioral e pale aku i ka lohi o ka ulu ʻana o ke keiki.
- Hoʻonaʻauao Kūikawā: ʻO ka hoʻouna ʻana i kahi keiki i nā papahana hoʻonaʻauao kūikawā i hoʻopilikino ʻia i ko lākou hiki ke aʻo e kākoʻo nui i ko lākou ulu ʻana o ka noʻonoʻo.
- ʻŌlelo Aʻo Hoʻoilina: He mea nui loa ke aʻo hoʻoilina e hāʻawi i nā ʻohana i kahi ʻike maopopo o ke kūlana, nā hana e hana ai, a me nā pilikia e pili ana i nā keiki e hiki mai ana.
ʻO ka mea nui loa nou, ma ke ʻano he makua, e ʻike pono ʻoe i ke kūlana o kāu keiki a e hana pū me ka hui lapaʻau e mālama ana i kāu keiki.
Leka Lawe-Home
- He maʻi laha ʻole ka Rubinstein-Taybi Syndrome (RTS). ʻAʻole ia i hana ʻia e ka hewa o nā mākua.
- ʻO nā ʻano nui ka laulā ma mua o nā manamana wāwae nui maʻamau, kahi helehelena ʻokoʻa, a me nā lohi o ka ulu ʻana.
- ʻOiai ʻaʻole hiki ke ho'ōla loa ʻia, aia nā lāʻau lapaʻau kūpono loa e hoʻokele i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola o ke keiki.
- He mea nui loa ka hoʻomaka ʻana i nā lāʻau lapaʻau e like me ka hoʻōla ʻōlelo a me ka hoʻōla kino i ka wā mua no ka ulu ʻana o ke keiki.
- Inā he kānalua kou e pili ana i kēia mau hōʻailona i kāu keiki, mai hopohopo, akā e kamaʻilio me kāu kauka a pediatrician paha e pili ana i ia mea.
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