Ma ke ʻano he makua, ua manaʻo paha ʻoe he ʻokoʻa iki kāu keiki mai nā keiki ʻē aʻe? Malia paha ua lohi iki ʻo ia i ke kamaʻilio ʻana, a i ʻole ua lōʻihi iki paha kona aʻo ʻana i kahi mea hou. Nui nā kumu no kēia. Akā i kēia lā e kamaʻilio mākou e pili ana i kahi kūlana genetic kūikawā e hiki ai ke hoʻoulu i ia kūlana, akā ʻaʻole i kamaʻilio nui ʻia i loko o ko kākou kaiāulu. ʻO ia ka Fragile X Syndrome .
I ka ʻōlelo maʻalahi, he aha ka Fragile X Syndrome?
He maʻi hoʻoilina kēia. ʻO ia hoʻi, ua hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. Hiki i kēia maʻi ke hoʻopilikia i ke aʻo ʻana o ke keiki, ke ʻano, ke ʻano, a me ke olakino holoʻokoʻa. Hiki i kekahi mau keiki ke loaʻa nā hōʻailona palupalu loa, aʻo kekahi poʻe e ʻoi aku ka pilikia. Ma keʻano laulā, ʻoi aku ka pilikia o nā keikikāne ma mua o nā kaikamahine .
Hiki i nā keiki i hānau ʻia me kēia maʻi ke loaʻa nā pilikia ulu, e like me nā pilikia aʻo a me nā kīnā noʻonoʻo. Akā, mai hopohopo. Me ka mālama kūpono, ka hoʻonaʻauao kūikawā, a me nā therapies, hiki i kēia mau keiki ke aʻo a ulu i ko lākou hiki piha.
He aha nā hōʻailona o kēia maʻi?
Hiki i ke keiki me Fragile X ke hōʻike i nā ʻano hōʻailona like ʻole. He ʻano hana kekahi o nā hōʻailona, a ʻo kekahi he kino. E nānā kākou i kēia mau mea ma ke kaʻawale.
| ʻAno hiʻohiʻona | Nā hiʻohiʻona maʻamau i ʻike ʻia |
|---|---|
| Nā pilikia o ke aʻo ʻana a me ke ʻano |
|
| Nā ʻano i ʻike ʻia ma ke kino |
ʻO ka mea nui, ʻaʻole i loaʻa kēia mau hōʻailona āpau i kēlā me kēia keiki. Eia kekahi, ʻo ka loaʻa ʻana o kēia mau hōʻailona ʻaʻole ia he manaʻo he loaʻa i ke keiki ʻo Fragile X. He mea nui e ʻike i ke kauka no ka ʻike pololei.
ʻO ka pilina ma waena o Fragile X a me ka autism
Aia kahi pilina ma waena o kēia mau kūlana ʻelua. Ma kahi o 40% o nā keiki me Fragile X e loaʻa paha ka autism. Eia kekahi, ma kahi o 80% o nā keiki e loaʻa paha nā pilikia nānā, e like me `ADD` a i ʻole `ADHD`.
Pehea e hoʻoili ʻia ai kēia kūlana ma o nā hanauna?
He mea paʻakikī iki kēia, akā e wehewehe maʻalahi wau.
E like me kou ʻike, ua hoʻomalu ʻia nā mea āpau i loko o ko kākou kino e nā genes. Hoʻokumu ʻia kēia kūlana e kahi mutation i loko o kahi gene i kapa ʻia ʻo FMR1 . Aia kēia gene ma ka chromosome X. He mea nui ka protein i hana ʻia e kēia gene FMR1 no nā hunaola nerve i loko o ka lolo e kamaʻilio pū kekahi me kekahi. Pono kēia protein no ka ulu pono ʻana o ka lolo o ke keiki.
ʻAʻole hana nui nā keiki me Fragile X i kēia protein i loko o ko lākou kino.
E noʻonoʻo, aia kekahi ʻāpana i kapa ʻia ʻo 'CGG' i loko o kēia gene FMR1. I ke kanaka olakino, hana hou ʻia kēia ʻāpana i 5 a 40 mau manawa wale nō. Akā i loko o ke keiki me Fragile X, hana hou ʻia kēia ʻāpana ma mua o 200 mau manawa . ʻO ka nui o nā manawa e hana hou ʻia ai kēia hana hou ʻana, ʻoi aku ka koʻikoʻi o nā hōʻailona.
Mai wai mai kēia a hiki i ke keiki?
- Mai ka makuahine mai: Inā he mea lawe ka makuahine i kēia gene FMR1 i hoʻololi ʻia, he 50% ka manawa e loaʻa ai i kāna keiki (inā he kāne a he wahine paha) kēia maʻi.
- Mai ka makuakāne mai: Inā loaʻa i ka makuakāne kēia gene, ʻo nā keiki wahine wale nō e hoʻoilina mai iā ia. ʻAʻole hoʻoilina kēia gene i nā keiki kāne no ka mea loaʻa iā lākou ka chromosome Y mai ko lākou makuakāne mai.
ʻO kēia ke kumu i ʻoi aku ai ka pilikia o nā keikikāne i kēia maʻi. ʻOiai he ʻelua mau chromosome X ko nā kaikamahine, ʻoiai inā he pilikia kekahi, hiki i kekahi chromosome X olakino ke kaohi i ka pōʻino i kekahi ʻano.
ʻIke a me ka lāʻau lapaʻau
ʻAʻohe mea pilikia e hiki ke kāohi ʻia. ʻO ka pilikia nui ka mōʻaukala ʻohana o ke ʻano. No laila, inā he moʻolelo ko kekahi o kou ʻohana no nā pilikia aʻo a i ʻole autism, makemake paha ʻoe e kamaʻilio me kāu kauka e pili ana i ka loaʻa ʻana o ke aʻo ʻana no nā maʻi genetic ma mua o ka loaʻa ʻana o kahi keiki.
Pehea e ʻike ai i ka maʻi?
- I ka wā hāpai: Hiki ke hoʻāʻo ʻia kēia ma mua o ka hānau ʻana o ka pēpē. Hiki ke hoʻohana ʻia nā hoʻokolohua i kapa ʻia ʻo amniocentesis (ka nānā ʻana i ka wai amniotic i loko o ka ʻōpū) a i ʻole chorionic villus sampling (CVS) (ka nānā ʻana i kahi ʻāpana o ka placenta) e ʻike ai inā loaʻa ka mutation gene FMR1.
- Ma hope o ka hānau ʻana: Hiki ke ʻike pololei ʻia kēia maʻi me kahi hoʻāʻo koko maʻalahi i hana ʻia ma hope o ka hānau ʻana o ka pēpē.
He aha nā lāʻau lapaʻau?
ʻO ka mea mua, e hoʻomanaʻo ʻaʻohe lāʻau lapaʻau no Fragile X. Eia nō naʻe, nui nā lāʻau lapaʻau e hiki ke kōkua i ka hoʻokele ʻana i nā hōʻailona a kōkua i ke keiki e ola i kahi ola maikaʻi aʻe. ʻO ka wikiwiki o ka hoʻomaka ʻana o kēia mau lāʻau lapaʻau, ʻoi aku ka maikaʻi o nā hopena.
| Nā ʻano lapaʻau a me ka hoʻokele | |
|---|---|
| Hoʻōla |
|
| Ka hoʻonaʻauao a me ke kaiapuni | |
| Nā lāʻau lapaʻau | Hiki i ke kauka ke kuhikuhi i nā lāʻau lapaʻau e kāohi i nā kūlana e like me nā hopu ʻana, ka maʻi hyperactivity deficit attention (ADHD), ka hopohopo, a me ke kaumaha. Mai hāʻawi i kekahi lāʻau lapaʻau i kāu keiki me ka ʻole o ka ʻōlelo aʻoaʻo lapaʻau. |
Pehea ke kūlana i ka wā makua?
He maʻi ola mau ka Fragile X. Eia nō naʻe, me ke kākoʻo kūpono a me ka mālama ʻana, nui ka poʻe e ola holomua. Ma kahi o ka hapakolu o nā wahine hiki ke noho kūʻokoʻa. ʻO ka maʻamau, pono nā kāne i ke kākoʻo hou aku.
ʻAʻole kēia kūlana e hoʻopōkole i ko lākou ola. Loaʻa iā lākou ke ola like me ke kanaka olakino. ʻO ka mea nui, ʻo ia ka ʻike ʻana i ko lākou mau hiki a paipai iā lākou e like me ia.
Leka Lawe-Home
- He maʻi hoʻoilina ka maʻi Fragile X i hoʻoili ʻia mai nā hanauna a i nā hanauna. ʻAʻole ia i hana ʻia e ka hewa o kekahi.
- ʻOi aku ka koʻikoʻi o kēia i nā keikikāne.
- Hiki iā ia ke komo pū me nā pilikia aʻo, nā lohi o ka ʻōlelo, nā pilikia o ka hana, a me kekahi mau hōʻailona kino.
- He mea nui loa ka ʻike mua ʻana i ka maʻi a hoʻomaka i ka lāʻau kūpono (ʻōlelo, hana, ʻano hana) no ke keiki.
- ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, me ka hoʻokele kūpono a me ke kākoʻo aloha, hiki ke kōkua ʻia ke keiki e ola i kahi ola kūpono a hauʻoli hoʻi.
- Inā he mau hopohopo kāu e pili ana i ka ulu ʻana o kāu keiki, e kamaʻilio me kāu kauka pediatric (kauka) me ka hoʻokaʻulua ʻole.
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