Ke hopohopo iki nei ʻoe no ka ulu ʻana o kāu kaikamahine liʻiliʻi? Holoholo pinepine ʻo ia, pāʻani, a kamaʻilio nui, a me he mea lā e lohi ana ʻo ia? He mea maʻamau no ka makuahine a makua paha ke makaʻu a hopohopo ke ʻike ʻoe i kahi mea e like me kēia. I kēia lā e kamaʻilio mākou e pili ana i kekahi ʻano maʻi. Ua kapa ʻia kēia ʻo Rett Syndrome. He ʻano kakaikahi loa kēia e pili pinepine ana i nā kaikamahine. Mai hopohopo, e kamaʻilio kākou e pili ana i nā mea āpau me ka maopopo a me ka maʻalahi.
He aha ke kumu maoli o ka Rett syndrome?
I ka ʻōlelo maʻalahi, ʻo ka maʻi Rett kahi maʻi i hoʻokumu ʻia e kahi pilikia genetic. Loaʻa i kēlā me kēia cell i loko o ko mākou kino kahi mea i kapa ʻia he chromosomes. Loaʻa i kahi keiki wahine ʻelua mau chromosomes X (XX). ʻO kahi loli, a i ʻole mutation, i loko o kahi gene i kapa ʻia ʻo MECP2 ma kēia chromosome X ke kumu nui o ka maʻi Rett.
Manaʻo nā kānaka ʻepekema he kuleana koʻikoʻi ko ka gene MECP2 i ka ulu ʻana o ka lolo. Ke loaʻa kahi kīnā i loko o kēia gene, pili pololei ia i ka ulu ʻana o ka lolo o ke keiki. ʻO ia ka mea e pili ana i nā mea e like me ke kamaʻilio ʻana, ka hele ʻana, a me ka hoʻohana ʻana i nā lālā.
ʻO ka mea nui, ʻoiai he maʻi hoʻoilina ka maʻi Rett, ʻaʻole ia e hoʻoili pinepine ʻia mai ka makua a i ke keiki. He loli ia e kū nei ma ke ʻano maʻamau i loko o nā hunaola o ke keiki. ʻO ia hoʻi, hiki i ke keiki ke hoʻomohala iā ia ʻoiai inā ʻaʻohe mea o kou ʻohana i loaʻa iā ia. No laila, mai hoʻāhewa iā ʻoe iho a i ʻole kāu hoa no kēia.
Hiki ke hana ʻia kahi hoʻāʻo genetic e hōʻoia i kēia kūlana. Hana pinepine ʻia kēia me kahi hāpana koko. E kuhikuhi aku kāu kauka iā ʻoe no kēia hoʻāʻo inā pono.
He aha ka ʻokoʻa ma waena o ka Rett syndrome a me ka autism?
Ma muli o ke ʻano like o kekahi o nā hōʻailona, hiki ke huikau ʻia kēia mau kūlana ʻelua kekahi i kekahi. I nā hihia ʻelua, pilikia ke keiki i nā pilina pili kanaka a me ke kamaʻilio ʻana. Eia nō naʻe, aia nā ʻokoʻa maopopo.
| ʻAno | ʻO ka maʻi Rett | Autism (Maʻi Autism Spectrum) |
|---|---|---|
| Hopena | ʻO ka hapa nui, hoʻopilikia ia i nā kaikamahine wale nō. | ʻIke pinepine ʻia i waena o nā keikikāne. |
| Ka ulu ʻana o ke poʻo | Lohi ka ulu ʻana o ke poʻo i ka hala ʻana o ka manawa (microcephaly). | ʻO ka maʻamau, ʻaʻohe hopena i ka ulu ʻana o ke poʻo. |
| Hoʻohana lima | Ua nalowale nā hana lima i aʻo ʻia. Hōʻike ʻia nā neʻe hana hou e like me ka hamo ʻana i nā lima a me ka holoi ʻana i nā lima. | ʻAʻohe nalowale o ka hoʻohana lima. Aia paha kekahi mau ʻano hana hou ʻē aʻe. |
| Nā pilina pilikanaka | Ma keʻano laulā, makemake lākou i nā kānaka. Makemake lākou e hōʻike ʻia ke aloha a me ke aloha. | Makemake kekahi mau keiki i nā mea pāʻani ma mua o nā kānaka a makemake lākou e noho mamao aku mai ke kaiāulu. |
| Nā pilikia hanu | Hiki ke ʻike ʻia nā ʻano maʻamau ʻole e like me ka hanu wikiwiki a me ka paʻa ʻana i ka hanu. | ʻAʻole ʻike pinepine ʻia kēia ʻano pilikia hanu. |
Pehea ka hopena o kēia kūlana i nā keikikāne?
He mea kākaʻikahi loa kēia. No ka mea, hoʻokahi wale nō chromosome X (XY) o ke keiki kāne, inā ua hōʻino ʻia ka gene MECP2 ma kēlā chromosome X hoʻokahi, he koʻikoʻi loa nā hopena. ʻO ka hapa nui o ka manawa, make kēlā mau keiki kāne i ka wā hānau a i ʻole ma hope koke iho.
He aha nā hōʻailona o ka maʻi Rett?
Hiki ke ʻokoʻa kēia mau hōʻailona mai kekahi keiki a i kekahi. ʻIke pinepine ʻia lākou i nā mahina 6-18 mua o ke ola o kahi keiki.Hoʻomaka kēia mau hōʻailona e ʻike ʻia i ka wā ʻōpio. ʻOiai ke ʻano mua o ke keiki e ulu maʻamau ana, hiki ke loli mālie a koke paha.
Eia kekahi o nā hōʻailona nui:
- Ka ulu lohi: ʻAʻole ulu pono ka lolo o ka pēpē, e hopena ana i ka liʻiliʻi o ke poʻo. Ua kapa ʻia kēia e nā kauka he microcephaly .
- Ka nalowale ʻana o ka hana lima: ʻO ke keiki i akamai i ka paʻa ʻana i nā mea pāʻani a me ka hana ʻana i nā mea me kona mau lima, ua nalowale kēlā hiki. Akā, hoʻomau ʻo ia i ka hana ʻana i nā neʻe like, e like me ka hamo ʻana i kona mau lima a me ka holoi ʻana i kona mau lima.
- Ka nalowale ʻana o ka ʻōlelo: ʻO ke keiki i kamaʻilio ma waena o nā makahiki 1 a me 4 ua oki koke i kāna ʻōlelo ʻana.
- Nā pilikia hele wāwae a me ka neʻe ʻana: Hiki i nā pilikia ʻiʻo a me ke kaulike ke kumu o ka hele wāwae ʻano ʻē. Hiki paha iā ʻoe ke lilo i mea hiki ʻole ke hele wāwae.
- Nā pilikia hanu: Hiki ke ʻike ʻia ka hanu wikiwiki mau ( hyperventilation ) a me ka paʻa ʻana o ka hanu.
- Nā hopu ʻana: Nui nā keiki me ka maʻi Rett e ʻike i nā hopu ʻana i kekahi manawa o ko lākou ola.
- Nā hōʻailona ʻē aʻe: E ʻike paha ʻoe i nā loli o ke ʻano e like me ka scoliosis , nā neʻe ʻana o nā maka kūpono ʻole, nā pilikia hiamoe , ka wili ʻana o nā niho, a me ka huhū a i ʻole ka uē pinepine ʻana.
ʻO nā pae ʻehā o ka Rett syndrome
ʻO ka maʻamau, holomua kēia maʻi ma o ʻehā mau pae, akā, ʻaʻole ia e hoʻopilikia i kēlā me kēia keiki ma ke ʻano like.
| Kahua | Manawa | Nā mea e ʻike ai |
|---|---|---|
| Pae I: Pae mua | 6 - 18 mahina | He ʻano palupalu loa nā hōʻailona. Ua emi ka nānā ʻana o ka maka, ua emi ka hoihoi i nā mea pāʻani, ua lohi ke kolo ʻana a me ka noho ʻana. |
| Pae II: Ka emi wikiwiki ʻana | 1 - 4 mau makahiki | Ua nalowale koke nā mākau i aʻo ʻia e ke keiki (ʻōlelo, hoʻohana i nā lima). Lohi ka ulu ʻana o ke poʻo, a hoʻomaka nā neʻe lima ʻē. |
| Pae III: Paepae | Mai 2 - 10 mau makahiki a hiki i ka makua | Ua pau ke emi ʻana o ke kūlana. ʻOiai aia nā pilikia o ka neʻe ʻana, ua holomua iki ke ʻano (uē, huhū). Hiki ke holomua iki ke kamaʻilio ʻana a me ka hoʻohana lima. Hiki ke loaʻa ka maʻi ʻepilepsy. |
| Pae IV: Ka nalowale hou ʻana o ka neʻe ʻana | Ma hope o 10 mau makahiki | Ua kaupalena ʻia ka neʻe ʻana. Hoʻonui ʻia ka nāwaliwali o nā ʻiʻo a me ka scoliosis. Akā, e holomua paha ka maʻi epilepsy a me ke kamaʻilio ʻana. |
He aha nā lāʻau lapaʻau no kēia?
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Rett. Eia nō naʻe, he nui nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hāʻawi i kāu keiki i ke ʻano ola maikaʻi loa. He hana hui kēia. Pili pū kāu kauka, nā mea hoʻoponopono kino, a me nā mea hoʻoponopono ʻōlelo.
- Nā lāʻau lapaʻau: Hāʻawi ʻia nā lāʻau lapaʻau e kāohi i nā mea e like me ka maʻi epilepsy, nā ʻūmiʻi ʻiʻo, a me nā pilikia hiamoe. Ua ʻāpono ʻia nei kahi lāʻau lapaʻau hou i kapa ʻia ʻo trofinetide (Daybue) , a hiki iā ia ke kāohi i kekahi o nā hōʻailona. E kamaʻilio me kāu kauka e pili ana i kēia.
- Hoʻōla Kino: Kōkua kēia i ka hoʻomaikaʻi ʻana i ka neʻe ʻana o ke keiki, ke kaulike, a me ka hiki ke hele. He mea nui hoʻi ia no ka hoʻonohonoho ʻana o ka iwi kuamoʻo.
- Hoʻōla Hana: Kōkua kēia i ka hoʻomohala ʻana i ka hiki i nā lima o ke keiki ke hana i nā hana o kēlā me kēia lā me ke kūʻokoʻa, e like me ke kapa ʻana a me ka ʻai ʻana.
- Lapaʻau ʻŌlelo: ʻOiai inā ʻaʻole hiki i ke keiki ke ʻōlelo, ua aʻo ʻia lākou e hōʻike iā lākou iho ma o nā ʻano ʻē aʻe, e like me ka hoʻohana ʻana i ko lākou mau maka a me nā kiʻi.
- ʻAi maikaʻi: He mea nui ka ʻai kaulike no ka ulu ʻana o ke keiki. Inā pilikia kāu keiki i ka moni ʻana, pono ʻoe e nīnau i kāu kauka.
He paʻakikī ka mālama ʻana i kahi keiki me ka maʻi Rett. Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia nā hui a me nā hui kākoʻo makua e hiki ke hāʻawi i ke kākoʻo e pono ai kāu keiki. ʻO ka hoʻopili ʻana me lākou hiki ke lilo i kumu ikaika nui.
Leka Lawe-Home
- ʻO ka Rett Syndrome kahi maʻi laha ʻole i hoʻopili nui ʻia i nā kaikamahine.
- ʻAʻole kēia he mea i hoʻoilina pinepine ʻia mai nā mākua mai, he loli ia i nā genes o ke keiki.
- ʻO ke ʻano nui ka nalowale ʻana o nā mākau i aʻo ʻia e ke keiki (ʻōlelo, hele wāwae, hoʻohana ʻana i nā lima) i ka hala ʻana o ka manawa (regression).
- ʻOiai ʻaʻole hiki ke ho'ōla loa ʻia kēia maʻi, hiki i nā lāʻau lapaʻau a me nā ʻano hana lapaʻau like ʻole ke kāohi i nā hōʻailona a hāʻawi i ke keiki i ke ola maikaʻi.
- Inā he mau hopohopo kāu e pili ana i ka ulu ʻana o kāu keiki, e kamaʻilio koke me kāu kauka. He mea nui e hana i nā hoʻoholo naʻauao me ka ʻole o ka hopohopo.
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