Ke nīnau iki nei paha ʻoe i kekahi manawa e pili ana i ka ulu ʻana a me ke ʻano o kāu keiki liʻiliʻi? Aia kekahi mau kūlana kakaikahi, akā he mea nui e hiki ke hoʻopilikia i ke ola o kā mākou mau keiki. I kēia lā, e kamaʻilio mākou e pili ana i kahi kūlana i lohe ʻole ʻia e ka poʻe he nui, akā he mea pono ke ʻike. Ua kapa ʻia kēia ʻo Smith-Magenis Syndrome.
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He aha maoli ka Smith-Magenis Syndrome?
I ka ʻōlelo maʻalahi, ʻo ka maʻi Smith-Maginnis kahi maʻi ulu e hoʻopilikia i nā ʻāpana like ʻole o ke kino o ke keiki. ʻO ia ke kumu o ke kīnā noʻonoʻo, ʻo ia hoʻi ke kīnā aʻo. Eia kekahi, hiki i kēia mau keiki ke loaʻa nā hiʻohiʻona helehelena kūikawā, nā pilikia hana, a ʻoi aku hoʻi nā pilikia hiamoe.
E noʻonoʻo, ua hana ʻia ko kākou kino me nā ʻāpana liʻiliʻi. Loaʻa i kēia mau ʻāpana kekahi mea e like me kahi puke kuhikuhi, ʻo ia hoʻi ko kākou DNA. Mālama ʻia ko kākou mau genes i loko o nā ʻāpana o kēia DNA i kapa ʻia he chromosomes. Hana ʻia ka maʻi Smith-Magnis i ka wā e holoi ʻia ai kahi ʻāpana liʻiliʻi loa o kahi chromosome e lawe ana i hoʻokahi gene koʻikoʻi mai ka DNA i ka hoʻomaka ʻana o ka hāpai ʻana o ka pēpē. ʻO kēia ka mea e hoʻopilikia ai i nā hana like ʻole o ke kino.
ʻO wai ka mea hiki ke loaʻa i kēia maʻi? Pehea ka maʻamau?
Hiki i ka Smith-Magenis Syndrome ke hoʻopilikia i kekahi. ʻO ka maʻamau, loaʻa ia i ka wā e hāpai ʻia ai kahi pēpē, i ka wā e hui pū ai ka hua manu o ka makuahine a me ka sperm o ka makuakāne, a loaʻa kahi loli genetic (spontaneous a i ʻole "de novo" mutation). ʻO ke ʻano kēia, i ka hapa nui o nā hihia, ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano ma mua.
Akā, he mea kākaʻikahi loa, ʻo ia hoʻi, he mea kākaʻikahi loa, hiki i kahi keiki ke hoʻoilina i kēia maʻi mai ko lākou mau mākua mai. Pehea ʻoe i ʻike ai? I kekahi manawa, ʻoiai inā ʻaʻohe hōʻailona o kekahi o nā mākua, ʻo kā lākou mau hunaola wahine wale nō (hua manu a sperm paha) ke loaʻa kēia loli genetic. ʻAʻole i loaʻa i nā hunaola kino ʻē aʻe kēia loli. Ua kapa ʻia kēia he germline mosaicism. Akā, he mea kākaʻikahi loa kēia.
Ke noʻonoʻo nei i ka maʻamau o kēia ʻano, hoʻopilikia ka maʻi Smith-Maginnis i hoʻokahi i kēlā me kēia 15,000 a 25,000 mau kānaka ma ka honua holoʻokoʻa. ʻO ke ʻano kēia he ʻano laha ʻole ia.
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Check Availability →He aha nā hōʻailona o kēia? Hiki iā ʻoe ke wehewehe iki?
Hiki ke ʻokoʻa nā hōʻailona o ka Smith-Magenis Syndrome mai kekahi keiki a i kekahi keiki, a hiki i ko lākou koʻikoʻi ke ʻano mai ka ʻoluʻolu a i ka ʻino. Hoʻopilikia kēia mau hōʻailona i nā ʻōnaehana like ʻole i loko o ke kino o ke keiki.
Nā ʻano noʻonoʻo a me ke kino
- Ke kīnā noʻonoʻo: He hiʻohiʻona nui kēia. Aia paha kekahi lohi a paʻakikī paha i nā mea e like me ke akamai aʻo a me ka hoʻomaopopo ʻana.
- Kino pōkole: ʻOi aku ka pōkole ma mua o nā keiki ʻē aʻe o ka makahiki like.
- Scoliosis: Hiki ke ʻike ʻia kahi piʻo ʻaoʻao o ka iwi kuamoʻo.
- Hoʻemi ʻia ka ʻeha a i ʻole ka mahana: ʻAʻole paha e ʻeha kekahi mau keiki a wela a anu paha e like me nā poʻe ʻē aʻe.
- Leo ʻūhū a palahalaha paha: Aia paha he loli i ka leo.
- Nā pilikia lohe a me/a i ʻole ka ʻike: Hiki ke loaʻa ka hemahema o ka lohe, ka hemahema o ka ʻike (e.g., ka pono e komo i nā aniani).
- Ke piʻi nui ʻana o ke kaumaha: Hiki ke piʻi nui ke kaumaha o ke kino me ke kumu ʻole, ʻoiai i ka wā ʻōpio.
Nā hōʻailona hiki ke ʻike ʻia i ka wā kamaliʻi
Hiki ke ʻike ʻia kekahi mau hōʻailona i ka wā pēpē:
- Nāwaliwali o nā ʻiʻo / 'hypotonia': Hiki ke manaʻo iki ke kino o ke pēpē i ka palupalu.
- Nā lohi o ka ulu ʻana: Hiki ke hoʻopaneʻe ʻia nā hana kūpono i ka makahiki e like me ke hāpai ʻana i ke poʻo i luna, ka ʻōwili ʻana, a me ka noho ʻana i luna.
- Nā pane pane maikaʻi ʻole: Hiki ke pilikia kekahi mau pane pane koke.
- Nā pilikia hānai: Hiki i ka pēpē ke paʻakikī i ka omo ʻana a i ʻole ke ale ʻana.
- Uē pinepine: ʻOi aku ka pinepine o ka uē ʻana ma mua o nā pēpē ʻē aʻe.
- Nā hiamoe lōʻihi a me ka hiamoe ʻana i ke ao.
Nā hiʻohiʻona helehelena kikoʻī
He nui nā hiʻohiʻona helehelena ʻokoʻa o nā keiki me ka maʻi Smith-Maginnis. ʻIke pinepine ʻia kēia mau mea i ka wā e ʻelemakule iki ai ke keiki, i ka wā kamaliʻi waena.
- He helehelena huinahā
- Nā papalina piha
- Nā maka i piholo
- Waha hiolo i lalo / ʻūmiʻi
- He alahaka ihu pālahalaha
- ʻO ka ʻāwae o lalo, ʻo ia hoʻi, ka ʻauwae, ua puka iki mai.
Ma muli o kēia ʻano o ka helehelena, hiki i kekahi mau keiki ke loaʻa nā ʻano ʻē o nā niho.
Nā pilikia hiamoe
He pilikia kēia no nā mākua he nui. ʻO nā pēpē, nā kamaliʻi ʻōpio, a me nā pākeke me ka maʻi Smith-Maginnis e ʻike i nā pilikia hiamoe like ʻole .
- Ke paʻakikī i ka hiamoe ʻana a me ka hiamoe mau ʻana.
- Manaʻo nui i ka hiamoe i ke ao.
- Ke ala pinepine ʻana i ka pō.
Ua ʻike ʻia ua pili kēia mau loli i nā ʻano hiamoe i nā loli i ke ʻano huna o ka hormone melatonin, ka mea e hoʻoponopono ai i ka hiamoe, i loko o ko mākou kino.
Nā ʻano e pili ana i nā manaʻo a me ke ʻano
Hiki ke ʻike ʻia kekahi mau hiʻohiʻona kikoʻī i nā manaʻo a me nā ʻano o kēia mau keiki:
- ʻAno aloha loa: Hiki ke hana ma ke ʻano aloha loa.
- ʻApo ʻana iā ʻoe iho: Hiki ke ʻike pinepine ʻia ʻoe e ʻapo ana iā ʻoe iho.
- Nā huhū pinepine a i ʻole ka pahū ʻana.
- Nā hana hoʻomāinoino: Nā mea e like me ka hōʻeha ʻana iā ʻoe iho (e like me ke nahu ʻana i ka lima/pulima lima, ke kuʻi ʻana i ke poʻo) a i ʻole ke kuʻi ʻana i kekahi.
I kekahi manawa, loaʻa paha i kēia mau keiki nā kūlana ʻano ʻē aʻe, e like me ADHD (Attention-Deficit/Hyperactivity Disorder) a i ʻole Autism Spectrum Disorder .
ʻIke pinepine ʻole ʻia nā hōʻailona koʻikoʻi
I nā hihia koʻikoʻi a kākaʻikahi loa, hiki ke hoʻopilikia ʻia ka hana o ka puʻuwai a me nā puʻupaʻa o ke keiki. Hiki nō hoʻi ke loaʻa nā ʻōʻō .
No ke aha e kū mai ai ka Smith-Magenis Syndrome? He aha ke kumu?
ʻO ke kumu nui o kēia kūlana, he loli ia i loko o kā mākou ʻōnaehana genetic. I ka pololei, aia kahi gene i kapa ʻia ʻo RAI1 (retinoic acid-induced 1 gene) , a ʻo nā loli i loko o kēlā gene ke kumu o kēia. ʻO kēia gene RAI1 ke kuleana no ka hana ʻana i nā protein e kuhikuhi ana i nā cell i loko o ko mākou kino e hana i nā hana like ʻole. ʻOiai ʻaʻole i maopopo loa kēia gene, ua hōʻike nā haʻawina he mea nui kēia gene no ka ulu ʻana a me ka hana o nā ʻāpana like ʻole o ke kino o ke keiki. ʻO ia ke kumu i laha nui ai nā hōʻailona o kēia syndrome.
I ka hapanui o nā hihia, ʻo ia hoʻi , ma kahi o 90% o nā keiki me ka maʻi Smith-Maginnis, ua nalowale kahi ʻāpana o ka lima pōkole (p) o ka chromosome 17 (chromosome 17) i loaʻa ka gene RAI1 (holoi ʻia) (ma kahi 17p11.2). Hana ʻia kēia holoi ʻana me ka manawa kūʻokoʻa a i ʻole de novo, ʻo ia hoʻi, i ka wā e hui pū ai ka hua o ka makuahine a me ka sperm o ka makuakāne i ka manawa o ka hāpai ʻana.
He mea kākaʻikahi loa, hiki i nā ʻāpana chromosome ke haki a neʻe a puni (translocation) i ka wā o ka ulu mua ʻana o ka embryonic. I ke koena o 10% o nā keiki, ma kahi o ka nalowale ʻana o ka gene RAI1, loaʻa kahi mutation i loko o ka gene ponoʻī . Hoʻololi kēia i ke ʻano DNA o ke keiki ma kēlā wahi genetic kikoʻī .
Pehea e ʻike ʻia ai kēia maʻi? (Diagnosis)
ʻIke pinepine ʻia ka Smith-Magenis Syndrome i ka wā kamaliʻi, i ka wā e ʻike nui ʻia ai nā hōʻailona. E nīnau ke kauka o kāu keiki iā ʻoe e pili ana i nā hōʻailona o kāu keiki, e lawe i kahi mōʻaukala olakino piha, a e nānā i kāu keiki.
He mea nui ka hoʻāʻo koko genetic e hōʻoia i kēia kūlana a kāpae i nā kūlana ʻē aʻe me nā hōʻailona like.
He aha nā lāʻau lapaʻau no ka Smith-Magenis Syndrome?
ʻO ke ʻano o ka mālama ʻana no kēia maʻi e hoʻomaha i nā hōʻailona o ke keiki a kōkua iā lākou e ola maikaʻi e like me ka hiki. Hiki ke ʻokoʻa nā ʻano lapaʻau mai kēlā keiki a kēia keiki.
Eia kekahi mau lāʻau lapaʻau maʻamau:
- Ke kuhikuhi ʻana i ke keiki i nā papahana hana komo mua ma mua o 3 makahiki a i nā papahana hoʻonaʻauao ma hope o 3 makahiki. Kōkua kēia i ke keiki e lanakila i nā pae holomua o ka ulu ʻana a me ka hoʻonaʻauao.
- E paipai i ke komo ʻana o ke keiki ma ka home a ma ke kaiāulu.
- Ke loaʻa ʻana o nā lāʻau lapaʻau ma waho o ka haukapila . Eia kekahi laʻana:
- Hoʻōla ʻōlelo-ʻōlelo
- Hoʻōla ʻano
- Hoʻōla kino
- Hoʻōla hana
- Ke hāʻawi nei i ka lāʻau lapaʻau no nā hōʻailona o nā kūlana ʻē aʻe e like me ADHD a i ʻole nā pilikia hiamoe.
- Ke kau nei i nā aniani no nā pilikia ʻike.
- Ke kau ʻia ʻana o nā ʻōmole pepeiao ma ke ʻoki kino e pale ai i nā maʻi pepeiao a nānā i ka nalowale o ka lohe.
- E mālama i ka ʻai olakino a kaulike hoʻi a hoʻoikaika kino mau e kaohi i ke kaumaha.
Na ke kauka o kāu keiki e hana i kahi hoʻolālā lapaʻau pilikino i kūpono i nā pono o kāu keiki.
Pūʻulu lapaʻau
Ma muli o kēia mau keiki he mau hōʻailona e hoʻopilikia ana i nā ʻāpana like ʻole o ko lākou kino, pono paha ka lāʻau lapaʻau i kahi hui o nā kauka like ʻole a me nā loea olakino . Hiki i kēia hui ke komo pū me:
- Kauka Pediatric a me nā loea pediatric ʻē aʻe
- Kauka lapaʻau (inā pono)
- Kauka maka
- Kauka Hoʻolohe
- Kauka Noʻonoʻo
- Meaʻai Meaʻai
- Kauka ʻōlelo
- ʻO ka mea lapaʻau hana a me ka mea lapaʻau kino
Kōkua anei ʻo Melatonin i nā pilikia hiamoe?
He hormone i hana ʻia e ko mākou kino ka Melatonin e kōkua iā mākou e hiamoe. Hiki i nā mea hoʻohui Melatonin ke kōkua i kāu keiki e hiamoe a hoʻoponopono i kā lākou pōʻaiapuni hiamoe-ala. Inā pilikia kāu keiki i ka hiamoe ma muli o ka maʻi Smith-Magnis, e kamaʻilio me kāu kauka e pili ana i ka hāʻawi ʻana iā lākou i kahi mea hoʻohui melatonin ma mua o ka hiamoe ʻana e kōkua iā lākou e hiamoe maikaʻi i ka pō. Akā, mai hoʻomaka i kekahi mea me ka ʻole o ka nīnau mua ʻana i kāu kauka, ʻae?
Hiki ke pale ʻia kēia kūlana?
ʻO ka mea pōʻino, ʻaʻole hiki ke pale ʻia ka Smith-Magenis Syndrome.No ka mea he maʻi hoʻoilina kēia, hiki ke loli koke ʻia nā loli i ka DNA o ke keiki me ka manaʻo ʻole ʻia. Eia nō naʻe, he nui nā hana lapaʻau, kino, a me nā ʻano hana e hiki ke kōkua i ke keiki e hoʻokele i nā hōʻailona a ola i ke ola piha.
He aha kaʻu e manaʻo ai inā loaʻa kēia maʻi i kaʻu keiki? (Prognosis)
Inā loaʻa i kahi keiki ka maʻi ʻo Smith-Maginnis, pili ka prognosis i ke koʻikoʻi o nā hōʻailona. Hiki i kekahi poʻe me ke ʻano ke noho kūʻokoʻa iki me ke kākoʻo palena ʻole mai ka ʻohana, nā hoaaloha, a me nā mea mālama. Hiki iā lākou ke ola i kahi ola maʻamau.
Eia nō naʻe, pono paha kekahi mau keiki i ke kākoʻo hou aku i ko lākou ola a pau. ʻOi aku ka maikaʻi o ko lākou noho ʻana ma kahi hui a i ʻole kahi kaiāulu mālama noho. Pono lākou i ka hoʻokele ʻana i nā hōʻailona no ke ola holoʻokoʻa a me ka mālama pale ʻana e kōkua i ke keiki e ola i kahi ola olakino a hoʻokō.
Hiki ke ho'ōla loa ʻia ka Smith-Magenis Syndrome?
ʻAʻole, ʻaʻole hiki ke ho'ōla loa ʻia ka Smith-Magenis Syndrome no ka mea ua hana ʻia e nā loli maʻamau i ka DNA o ke keiki. Eia nō naʻe, e hāʻawi ka hui lapaʻau o kāu keiki i nā koho lapaʻau pilikino e kōkua i ka hoʻokele ʻana i nā hōʻailona i ko lākou ola a pau.
ʻEhia mau manawa e pono ai ʻoe e ʻike i ke kauka?
Inā hōʻike kāu keiki i kekahi o kēia mau hōʻailona, e ʻike koke i ke kauka:
- Inā hōʻeha kino ke keiki iā ia iho a huhū nui paha.
- Inā ʻaʻole i ʻike ʻia nā pae hoʻomohala kūpono i ka makahiki.
- Inā ʻoe e hōʻike nei i ka hoʻonui ʻia o ke kaumaha a i ʻole ke kīnā ma ka home a me/a i ʻole ke kula.
- Inā ʻaʻole hiki iā ʻoe ke hiamoe i ka pō a paʻakikī paha ke ala i ke ao.
I ka manawa hea ʻoe e pono ai e hele i ka Emergency Treatment Unit (ETU) ?
E hele koke i ka lumi pilikia ma kēia kūlana:
- Inā loaʻa i ke keiki ka maʻi ʻōʻō.
- Inā ʻaʻole kūpono ka puʻuwai.
- Inā ʻaʻole ʻai ke keiki a i ʻike ʻia paha ua maloʻo loa.
He aha nā nīnau koʻikoʻi e nīnau aku ai i ke kauka?
Ke hele ʻoe i ke kauka, hiki iā ʻoe ke nīnau i nā nīnau e like me kēia:
- Pehea lā wau e kākoʻo ai i kaʻu keiki?
- He aha kaʻu e hana ai inā ʻaʻole hiki i kaʻu keiki ke hoʻomaopopo i nā pae hoʻomohala?
- He aha nā hōʻailona e pono iaʻu e makaʻala nui?
- Pehea e hiki ai iaʻu ke pale i kaʻu keiki i ka wā e huhū ai ʻo ia?
- Aia kekahi mau hopena ʻaoʻao i nā lāʻau lapaʻau i ʻōlelo ʻia?
ʻO ka hope loa, he leka lawe-i-ka-home
Hiki ke hoʻoluhi i ka ʻike ʻana ua loaʻa i kāu keiki kēia ʻano ulu. He mea maʻamau loa ia. ʻAʻole ʻoe hoʻokahi. ʻO ka hui pū ʻana me nā hui kākoʻo kahi e hui pū ai nā mākua a me nā mea mālama o nā keiki me kēia ʻano hiki ke hāʻawi iā ʻoe i ka ikaika nui, ka ʻike, a me ka kaʻana like ʻana i nā ʻike.
ʻOiai ʻaʻohe lāʻau lapaʻau no ka Smith-Magenis Syndrome, aia ke kākoʻo no ke ola holoʻokoʻa e kōkua i kāu keiki e hoʻokō i ko lākou hiki piha a hoʻokele i kā lākou mau hōʻailona. Na ke kime lapaʻau o kāu keiki e alakaʻi iā ʻoe ma o kēia. Mai hāʻawi pio!
ʻO ka maʻi Smith-Magenis, ka maʻi Smith-Magenis, ka maʻi genetic, ka lohi o ka ulu ʻana, nā pilikia o ke ʻano, nā pilikia hiamoe, ka gene RAI1
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