He aha ka Christianson Syndrome? E kamaʻilio kākou e pili ana i kēia maʻi genetic laha ʻole?

Ua noʻonoʻo paha ʻoe inā he lohi ka ulu ʻana o kāu keiki? A i ʻole me he mea lā he paʻakikī iā lākou ke hele a ʻōlelo paha? I kekahi manawa hiki ke hana ʻia kēia mau hōʻailona e kahi maʻi genetic laha ʻole. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi laha ʻole akā koʻikoʻi e makaʻala. Ua kapa ʻia ʻo Christianson Syndrome. Mai hopohopo, he mea nui loa ka makaʻala i kēia.

He aha ka Christianson Syndrome?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaʻikahi loa ka Christianson Syndrome, ʻo ia hoʻi, he maʻi genetic i ʻike pinepine ʻole ʻia. Hoʻopilikia nui kēia i kā mākou ʻōnaehana nerve. E noʻonoʻo e pili ana, ʻo ka ʻōnaehana nerve ka ʻōnaehana nui e hoʻouna i nā leka i loko o ko mākou kino a kāohi i nā hana āpau. No laila, ke hoʻopilikia ʻia kēia, hiki ke hoʻopilikia ʻia nā mea e like me ka hele wāwae a me ke kamaʻilio ʻana. Loaʻa i ka poʻe me kēia maʻi nā lohi o ka ulu ʻana a i ʻole nā ​​​​kīnā noʻonoʻo. ʻO ka hapa nui o ka manawa, hoʻomaka kēia mau hōʻailona e ʻike ʻia i ka wā kamaliʻi.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia maʻi? No ke aha e like me he mea lā e pili wale ana i nā keikikāne?

E nānā, ʻike nui ʻia kēia maʻi i kapa ʻia ʻo Christianson Syndrome i waena o nā keikikāne . Aia kekahi kumu kūikawā no ia mea. He "maʻi hoʻoilina X-linked", ʻo ia hoʻi, ua hana ʻia e kahi kīnā hoʻoilina e pili ana i ka chromosome X.

Loaʻa iā kākou a pau nā mea liʻiliʻi i kapa ʻia he chromosomes i loko o ko kākou mau cell e mālama ana i ka ʻike genetic. Loaʻa i nā wāhine ʻelua mau chromosomes X (XX), a loaʻa i nā kāne hoʻokahi chromosome X a me hoʻokahi chromosome Y (XY).

No laila, inā loaʻa i kahi wahine ka hoʻololi ʻana o ka gene no ka maʻi Christiansen ma kekahi chromosome X, akā ʻo ka chromosome X olakino ʻē aʻe ʻaʻole pinepine ia e hoʻoulu i nā hōʻailona. Hiki iā lākou ke lilo i mea lawe no ka maʻi. ʻO ia hoʻi, loaʻa iā lākou ka gene no ia mea ʻoiai ʻaʻole lākou i loaʻa ka maʻi.

Akā inā loaʻa i ke kāne kēia hoʻololi ʻana o ka gene ma kāna chromosome X wale nō, e loaʻa maoli nō iā ia nā hōʻailona no ka mea ʻaʻohe ona chromosome X olakino e hana i ka hana. No ka wahine e loaʻa ai kēia maʻi, pono iā ia kēia hoʻololi ʻana ma nā chromosome X ʻelua. He mea kākaʻikahi loa ia, ʻo ia hoʻi, he haʻahaʻa loa ka manawa e hiki ai.

Pehea ka maʻamau o ka Christianson Syndrome?

ʻOiaʻiʻo, he paʻakikī ke ʻōlelo pololei i ke ʻano maʻamau o kēia mai nā helu helu. No ka mea, he maʻi laha ʻole loa ia. Wahi a nā kauka he mea laha ʻole loa ia.He maʻi laha ʻole ia. Manaʻo kekahi mau kuhi he hoʻokahi i loko o 600 mau keikikāne me ke kīnā noʻonoʻo i pili i ka X e loaʻa paha kēia maʻi. Ua ʻike ʻia kekahi noiʻi ʻē aʻe ua loaʻa ka Christianson Syndrome i loko o hoʻokahi i loko o 100 mau ʻohana me kahi keiki me ke kīnā ulu i pili i ka X. No laila, hiki iā ʻoe ke ʻike i ka laha ʻole o kēia, ʻeā?

He aha nā hōʻailona o ka Christianson Syndrome?

ʻAe, e nānā kākou i nā hōʻailona a ke keikikāne me ka Christianson Syndrome e hōʻike nei. Hiki iā ʻoe ke ʻike i kekahi a i ʻole kēia mau mea āpau. ʻAʻole nā ​​​​keiki āpau e loaʻa nā hōʻailona āpau, a he mea ia e hoʻomanaʻo ai.

ʻO nā hiʻohiʻona nui i ʻike pinepine ʻia:

• Nā pilikia me ka hele wāwae a me ke kaulike (ataxia): ʻO ke ʻano kēia he paʻakikī ke mālama i ke kaulike, a hiki paha iā ʻoe ke manaʻo paʻa ʻole a paʻa ʻole paha i ka wā e hele ana.
• ʻEpilepsy: ʻO ke ʻano kēia, hiki ke loaʻa nā kūlana e like me nā hopu ʻana. He nalowale koke kēia o ka ʻike a me nā haʻalulu.
• Nā pilikia maka: No ka laʻana, ʻo ka strabismus, a i ʻole e like me kā mākou e ʻōlelo nei, 'nā maka keʻa', he ʻano like ia.
• ʻAʻole hiki ke ʻōlelo a pilikia nui paha: ʻO ka paʻakikī i ka hoʻokumu ʻana i nā huaʻōlelo, a i ʻole ka hiki ʻole ke ʻōlelo iki, a i ʻole ka ʻōlelo ʻana paha he palena loa.
• Ke kīnā noʻonoʻo: Loaʻa paha ka nele i ka hiki ke aʻo, hoʻomaopopo, a pēlā aku. Hiki ke ʻokoʻa ke kiʻekiʻe o kēia mai kēlā kanaka a kēia kanaka.
• Microcephaly: Hiki ke liʻiliʻi ke poʻo ma mua o ka maʻamau. Ana ʻia kēia e pili ana i ka makahiki a me ke kāne o ke keiki.

Ma waho aʻe o kēia, hiki ke ʻike ʻia kekahi mau ʻano ʻē aʻe:

• Ka maʻi autism spectrum: Nā hōʻailona e like me ka hoʻokaʻulua ʻole e komo i nā pilina pilikanaka, ka launa pū ʻana me nā poʻe ʻē aʻe, a me nā hana hou.
• ʻO ka atrophy Cerebellar: ʻO ka ʻāpana o ko mākou lolo e kaohi ana i ke kaulike a me ka neʻe ʻana, i kapa ʻia ʻo ka cerebellum, hiki ke oki i ka ulu ʻana a i ʻole ka emi ʻana.
• Nā pilikia o ka ʻōnaehana digestive: No ka laʻana, nā kūlana e like me ka maʻi reflux gastroesophageal (GERD), kahi e hoʻoulu ai i nā hōʻailona e like me ka heartburn a me ka regurgitation.
• Ka nalowale ʻana o ka hiki ke hele: Hiki paha iā ʻoe ke hele i ka wā mua, akā i ka hala ʻana o ka manawa, hiki i kou hiki ke hele ke emi a nalo paha. Ua kapa ʻia kēia ʻo 'regression' .
• Nāwaliwali o nā ʻiʻo (hypotonia): Hiki i ke kino ke manaʻo he palupalu a he ʻōʻō, e like me ka pēpē laholio.
• Ka pohō kaumaha a i ʻole ka pohō kiʻekiʻe:E lilo paha kou kaumaha a me kou kiʻekiʻe i kūpono i kou makahiki. ʻO ia hoʻi, ua pale ʻia paha kou ulu ʻana.

ʻO ka mea kupanaha maoli, ʻo ia ka hōʻike ʻana o nā keiki me ka Christianson Syndrome i nā hōʻailona like me nā keiki me kahi maʻi genetic ʻē aʻe i kapa ʻia ʻo Angelman syndrome, e like me ka ʻike ʻia ʻana o ka hauʻoli me ke kumu ʻole a me ka minoʻaka mau i nā manawa a pau.

E like me ka mea i ʻōlelo ʻia ma mua, ʻo nā wahine me kēia hoʻololi ʻana o ka genetic, ʻo ia hoʻi, nā mea lawe, hiki ke loaʻa i nā pilikia aʻo, akā ʻaʻole lākou e ʻike pinepine i nā hōʻailona koʻikoʻi ʻē aʻe i ʻike ʻia e nā keikikāne.

He aha ke kumu o ka Christianson Syndrome?

Inā mākou e nānā i ke kumu o kēia, he maʻi hoʻoilina ka Christianson Syndrome. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi loli a i ʻole mutation i loko o kahi gene. I ka pololei, ua hoʻokumu ʻia e kahi mutation i loko o ka gene i kapa ʻia ʻo SLC9A6 ma ka chromosome X.

Ua hoʻoilina ʻia kēia hoʻololi ʻana o ka gene mai nā mākua a i nā keiki. I ka hapanui o nā hihia, ʻo nā mākua e hoʻoili i kēia hoʻololi ʻana i kā lākou mau keiki he mau mea lawe lākou i ka maʻi. ʻO ke ʻano kēia, ʻoiai ua loaʻa iā lākou kēia loli i loko o kā lākou mau genes, ʻaʻole lākou e hōʻike i nā hōʻailona.

Pehea e ʻike ʻia ai kēia maʻi?

Ke ʻike ke kauka iā ʻoe a i ʻole kāu keiki, manaʻo paha lākou he Christianson Syndrome lākou inā loaʻa iā lākou kekahi o nā hōʻailona a mākou i kūkākūkā ai ma mua.

E noʻonoʻo, ua hānau ʻia ʻo Kasun liʻiliʻi e like me nā pēpē ʻē aʻe. Akā, ma hope iki, ua ʻike kona mau mākua ua ʻoi aku ka nui o Kasun ma mua o nā keiki ʻē aʻe. Ua lohi ʻo ia i ka paʻa pono ʻana i kona ʻāʻī, ua lohi i ka ʻōwili ʻana, a ua lohi i ka noho ʻana. A laila, i kona hoʻomaka ʻana e hele, e hāʻule pinepine ʻo ia, me he mea lā ʻaʻohe ona kaulike. Ua hoʻomaka pū ʻo ia e kamaʻilio me ka lohi loa, akā ʻaʻole maopopo kāna mau ʻōlelo. Ma hope o kona hoʻomaka ʻana e hele i ke kula, ua paʻakikī iā ia ke hoʻomaopopo i nā haʻawina. ʻO ia wale nō ka manawa i hōʻike ai ʻo ia iā ia i ke kauka, nāna i hana i nā hoʻokolohua like ʻole a ʻike i kahi maʻi i kapa ʻia ʻo Christianson Syndrome.

No ka hōʻoia ʻana i kēia, a i ʻole e kāpae iā ia, hana ʻia kahi hoʻāʻo koko kūikawā . Hoʻohana ʻia kēia hoʻāʻo koko e ʻike ai inā he mutation i loko o ka gene i kapa ʻia ʻo SLC9A6. Ua kapa ʻia kēia he hoʻāʻo genetic .

He aha nā lāʻau lapaʻau no ka Christianson Syndrome?

ʻO kahi nīnau a ka poʻe he nui e nīnau ai, inā paha he lāʻau lapaʻau kūpono no kēia. ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau i kēia manawa. Eia naʻe, ʻaʻole pono kēlā e hoʻonāwaliwali iā ʻoe. Nui nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola no ke keiki a me ka ʻohana.

Hiki i kāu a i ʻole kāu keiki ke hoʻokomo pū i ka hoʻolālā lapaʻau:

• Lapaʻau no nā pilikia maka: nā mea e like me nā aniani, a me ke ʻoki kino paha e hoʻoponopono ai i ka maka ʻōniʻoniʻo (strabismus).
• Nā Hoʻolālā Hoʻonaʻauao Pilikino (IEP): Kōkua i nā keiki me nā kīnā noʻonoʻo a i ʻole ke kīnā aʻo e aʻo ma ke ʻano kūpono iā lākou.
• Nā lāʻau antiepileptic: Nā lāʻau lapaʻau i kuhikuhi ʻia e nā kauka e hōʻemi i ke alapine (pinepine) a me ke koʻikoʻi o nā hopu ʻana.
• Hoʻōla kino: He mea kōkua nui kēia i ka hoʻomaikaʻi ʻana i ka ikaika o ke kino, ke kani ʻana o nā ʻiʻo, ka hiki ke hele wāwae, a me ke kaulike.
• Hoʻōla ʻōlelo: Hoʻomaikaʻi i nā mākau ʻōlelo a me ke kamaʻilio ʻana. Hiki ke aʻo i nā ʻano kamaʻilio ʻē aʻe i ka poʻe hiki ʻole ke ʻōlelo.
• Hoʻōla hana: Kōkua i nā hana o kēlā me kēia lā e like me ke kapa ʻana, ka ʻai ʻana, a me nā hana ʻē aʻe o ke ola o kēlā me kēia lā.

Hana ʻia kēia mau mea a pau e kōkua i ke keiki e ola i ke ola maikaʻi loa.

Hiki ke pale ʻia ka Christianson Syndrome?

ʻO ka ʻoiaʻiʻo, ʻaʻohe ala e pale aku ai i ka Christianson Syndrome a i ʻole ka hoʻololi ʻana o ka gene e hoʻokumu ai, no ka mea, he genetic ia.

Eia nō naʻe, inā manaʻo ʻoe he mea lawe paha ʻoe i kēia maʻi, a inā loaʻa i kekahi o kou ʻohana kēia maʻi, hiki iā ʻoe ke hana i ka hoʻāʻo genetic .

ʻO kēia hoʻāʻo hoʻoilina e pili ana i ka lawe ʻana i kahi hāpana o kou koko a me ka ʻimi ʻana i kekahi mau hoʻololi hoʻoilina. A laila e wehewehe kekahi kākāʻōlelo hoʻoilina i nā hopena hoʻāʻo iā ʻoe. E kōkua lākou iā ʻoe e hoʻomaopopo i nā hopena o kēia mau hoʻololi a pehea ka nui o kou loaʻa ʻana o kahi keiki me ka Christianson Syndrome. He mea nui loa kēia e ʻike ma mua o ka hoʻomaka ʻana i kahi ʻohana a i ʻole ka loaʻa ʻana o kahi keiki ʻē aʻe.

Pehea lā ke ola me kēia kūlana? (Outlook)

Me ka mālama kākoʻo maikaʻi, e like me ka hoʻōla kino a me ka hoʻōla ʻōlelo, hiki i ka poʻe me ka Christianson Syndrome ke ola i kahi ola kiʻekiʻe . Hiki iā lākou ke hana i ka mea maikaʻi loa o ko lākou hiki.

ʻOiai ke hoʻomau nei ka noiʻi ʻana i kēia maʻi, ʻaʻohe ʻikepili pololei e pili ana i ka manaʻolana o ke ola. Eia nō naʻe, i ka hapa nui o nā hihia, ola ka poʻe me kēia maʻi i kahi ola maʻamau. Eia nō naʻe, i kekahi manawa hiki ke ʻike ʻia kahi kūlana i kapa ʻia ʻo 'regression' , ʻo ia hoʻi ka emi ʻana o nā hiki i loaʻa mua. No ka laʻana, hiki i ka hiki ke ʻōlelo a hele paha ke maikaʻi no kekahi manawa, akā a laila e hōʻino hou. He mea maikaʻi ke kamaʻilio me kāu mau kauka e pili ana i ia mau mea a e mākaukau e kū iā lākou.

He aha nā nīnau āu e nīnau ai i ke kauka?

Inā kānalua ʻoe ua loaʻa iā ʻoe a i ʻole kāu keiki ka Christianson Syndrome, a inā ua ʻike ʻia ʻoe me ke ʻano, hiki iā ʻoe ke nīnau i kāu kauka i kēia mau nīnau. Mai makaʻu e nīnau i nā mea āpau ma kou manaʻo.

• He aha nā hoʻokolohua i hoʻohana ʻia e ʻike ai i ka Christianson Syndrome?
• He aha ke kumu kikoʻī o kēia? He pilikia paha ia me kaʻu mau genes?
• He aha nā koho lapaʻau no kēia? He aha ka lāʻau lapaʻau maikaʻi loa no kaʻu keiki?
• He aha kaʻu e hana ai ma ka home e hoʻomaikaʻi ai i ke ʻano o ke ola no kaʻu keiki me ka Christianson Syndrome?
• He aha ka manawa kūpono e loaʻa ai i kaʻu mau keiki ʻē aʻe, a i ʻole nā ​​​​keiki e hiki mai ana, kēia maʻi?
• He aha nā ʻoihana a me nā hui kākoʻo e hiki ai iā mākou ke huli no ke kōkua me kēia kūlana?

E hoʻomanaʻo kākou i kēia mau mea (Leka Lawe-Home)

• He maʻi laha ʻole ka Christianson Syndrome.
• Hoʻopilikia nui kēia i ka ʻōnaehana nerve, e pilikia ai ka hele ʻana a me ka ʻōlelo ʻana .
• ʻIke pinepine ʻia ke kīnā o ka noʻonoʻo .
• Hoʻopilikia nui kēia maʻi i nā keikikāne (X-linked).
• ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia, aia nā ʻano lāʻau like ʻole e hiki ke kaohi i nā hōʻailona a hoʻomaikaʻi i ka maikaʻi o ke ola.

Inā loaʻa iā ʻoe a i ʻole kāu keiki kekahi o kēia mau hōʻailona, ​​ʻo ka mea maikaʻi loa e hana ai, ʻaʻole e hopohopo, akā e ʻimi i ke aʻo lapaʻau i ka hikiwawe loa. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi i kēia huakaʻi, a ʻo ke noi ʻana i ke kōkua a me ka hoʻomaopopo ʻana e kōkua iā ʻoe e hoʻoponopono maikaʻi i kēia kūlana.

ʻO ka maʻi Christianson, ka maʻi genetic, ka ʻōnaehana nerve, ka X-linked, ke kīnā noʻonoʻo, ka maʻi Epilepsy, ka lohi o ka ulu ʻana