Ua ʻike anei ʻoe i ka maʻi PURA? E ʻike i kēia mau mea no ka wā e hiki mai ana o kāu keiki!

Ke kānalua iki nei paha ʻoe a makaʻu paha e pili ana i ka ulu ʻana o kāu keiki liʻiliʻi? I kekahi manawa, aʻo mālie nā pēpē i nā mea, a kū mai paha kekahi mau pilikia olakino. I nā manawa e like me kēia, he mea nui ka makaʻala i kahi maʻi laha ʻole i kapa ʻia ʻo PURA syndrome. Inā kani koʻikoʻi iki kēia, mai hopohopo. E kamaʻilio maʻalahi kākou e pili ana.

He aha ka maʻi PURA?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaʻikahi loa ka PURA syndrome. Hoʻopilikia nui ia i kā mākou ʻōnaehana nerve . ʻO ia hoʻi, ʻo ka lolo a me nā aʻalolo ka mea i hoʻopilikia nui ʻia. Ma muli o kēia, hiki ke lohi ka ulu ʻana o ke keiki mai ka waena a i ka koʻikoʻi . Hiki iā ia ke hana i nā pilikia aʻo. I ka manawa pinepine, hiki i nā keiki me ka PURA syndrome ke paʻakikī i ka hele wāwae, nā hopu a i ʻole ka maʻi epilepsy, a me nā pilikia olakino ʻē aʻe.

Manaʻo nā kānaka noiʻi ua hana ʻia kēia e nā loli, a i ʻole nā ​​mutations, i loko o nā genes e pili ana i ka ulu ʻana o ka lolo a me nā nerve cell (nā nerve cell / neurons). Hiki i nā pēpē i hānau ʻia me kēia maʻi ke paʻakikī i ka hānai ʻana a me ka hanu ʻana i nā pae mua. Eia nō naʻe, i kekahi manawa e hoʻomaikaʻi kēia mau mea ma hope o kekahi manawa. Eia nō naʻe, ʻaʻole hiki i nā keiki he nui ke kamaʻilio a hele wāwae paha ma o lākou iho ke ulu aʻe lākou.

ʻAʻohe lāʻau lapaʻau no ka maʻi PURA i kēia manawa. Eia nō naʻe, hiki i ka lāʻau kūpono ke kōkua iā ʻoe a me kāu pēpē e hoʻokele i nā hōʻailona a hōʻemi i nā pilikia. No laila , he mea nui loa ka ʻike mua ʻana i kēia maʻi .

ʻO wai ka mea hiki ke hoʻomohala i ka PURA syndrome?

He maʻi hānau ʻia ka maʻi PURA. ʻO ia hoʻi, hiki ke loaʻa ke ʻano i ka wā hānau. Hoʻopilikia ia i ka ʻōnaehana nerve. I kekahi manawa, hiki ke hoʻoili ʻia ke ʻano mai nā mākua a i nā keiki ma o nā genes. Eia nō naʻe, he mea nui e hoʻomanaʻo e hiki i kahi keiki ke loaʻa i ka maʻi PURA ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano ma mua . ʻO ia hoʻi, ua hana ʻia paha kahi mutation gene hou.

He aha nā kūlana ʻē aʻe e like me kēia?

Hiki ke like nā hōʻailona o ka PURA syndrome me nā kūlana ʻē aʻe, no laila hiki i kekahi manawa ke paʻakikī i nā kauka ke haʻi koke inā he PURA syndrome ia. Eia kekahi mau kūlana i loaʻa nā hōʻailona like:

• ʻO ka maʻi Angelman (ʻAʻole maopopo ka maʻi)
• ʻO ka maʻi hypoventilation waena congenital - He maʻi neurological kakaikahi kēia e hoʻopilikia ai i ka hanu ʻana.
• ʻO ka dystrophy myotonic - No kēia kahi hui o nā maʻi o ka ʻōnaehana muscular i kapa ʻia ʻo muscular dystrophy.
• Nā maʻi e pili ana i ka neurotransmitter - no ka laʻana, ka maʻi o Alzheimer a i ʻole ka maʻi o Parkinson.
• ʻO ka maʻi Pitt-Hopkins - He maʻi genetic kakaikahi kēia e hoʻoulu ai i ka lohi o ka hoʻomohala ʻana a me ka maʻi epilepsy.
• ʻO ka maʻi Prader-Willi (Prader-Willi syndrome)
• ʻO ka maʻi Rett (Rett syndrome)

Ma muli o ke ʻano like o kēia mau hōʻailona , ​​​​pono nā hoʻokolohua kūikawā no ka ʻike pololei .

Aia kekahi mau inoa ʻē aʻe no ka PURA syndrome?

ʻAe, i kekahi manawa e kapa paha nā kauka i kēia kūlana ma nā inoa ʻepekema ʻē aʻe. He mea maikaʻi ke ʻike iki e pili ana i kēlā, ʻeā? Eia kekahi laʻana:

• `(Ka lohi o ka ulu ʻana o ka noʻonoʻo, autosomal dominant 31)`
• `(Ka maʻi neurodevelopmental e pili ana i ka PURA)`
• `(ʻO ka maʻi hypotonia-seizures-encephalopathy koʻikoʻi e pili ana i ka PURA)`

ʻOiai paha he mea paʻakikī kēia mau inoa, pili lākou a pau i ke kūlana like.

Pehea ka maʻamau o ka maʻi PURA?

He maʻi laha ʻole ka maʻi PURA. A hiki i kēia manawa, ua hōʻike ʻia ma mua o 470 mau pākeke a me nā keiki i loaʻa i kēia maʻi ma ka honua holoʻokoʻa. E noʻonoʻo, ʻo ia ka liʻiliʻi o ka poʻe. Ua hoʻomaka mua ke kahua lapaʻau e kamaʻilio e pili ana i kēia maʻi i ka makahiki 2014. ʻO ia hoʻi, he maʻi hou ia.

He aha ka pilina ma waena o ka PURA syndrome a me ka epilepsy?

He nui ka poʻe i hānau ʻia me ka PURA syndrome i loaʻa ka nui o ka pilikia o ka loaʻa ʻana o ka maʻi epilepsy . I kekahi manawa hiki i kēia ke ʻano o ka epilepsy ʻaʻole i pane i ka lāʻau lapaʻau. ʻO ke ʻano kēia he paʻakikī ke kāohi me ka lāʻau lapaʻau. ʻO nā ʻano maʻamau o nā hopu ʻana he mau hopu focal a i ʻole nā ​​hopu laulā. Hoʻomaka pinepine kēia mau hōʻailona i ka wā kamaliʻi a i ʻole ka wā kamaliʻi .

He aha nā kumu o ka PURA syndrome? (ma kahi kikoʻī hou aku)

E like me kā mākou i kamaʻilio mua ai, ʻo ke kumu nui o ka maʻi PURA he mutation i loko o kahi gene kikoʻī i loko o ko mākou kino i kapa ʻia ʻo ka `(PURA gene)`. He kuleana koʻikoʻi kēia gene `(PURA)` i ka ulu ʻana o ka lolo maʻamau. No laila, i ka wā e loaʻa ai kahi kīnā i loko o kēia gene, hiki iā ia ke hoʻopilikia i ka ulu ʻana o nā cell nerve `(neurons)` a me ka hoʻokumu ʻana o kahi mea i kapa ʻia ʻo `(myelin)`. ʻO `(Myelin)` kahi mea e uhi ana i ko mākou mau aʻalolo a kōkua i nā hōʻailona e hele wikiwiki ma o lākou. No laila e noʻonoʻo i ka nui o ka hopena o ka hana o ka lolo ke hoʻopilikia ʻia kēia kaʻina hana.

He aha nā hōʻailona o ka maʻi PURA?

Hiki i nā hōʻailona o ka maʻi PURA ke hoʻopili i nā ʻāpana like ʻole o ke kino. ʻO nā keiki i hānau ʻia me kēia maʻi he mau pilikia aʻo koʻikoʻi a me nā lohi o ka ulu ʻana .

Nā hōʻailona hiki ke ʻike ʻia i nā pēpē hānau hou:

• I ka manawa pinepine he paʻakikī i ka hānai ʻana a i ʻole ka hanu ʻana .
• Pono paha ke kōkua lapaʻau (nā ʻōmole hānai a i ʻole ka hanu ʻana), akā hoʻomaikaʻi pinepine nā pilikia hanu i loko o hoʻokahi makahiki.
• ʻO ka paʻakikī i ka hānai ʻana a i ʻole ke ale ʻana (dysphagia) i kekahi manawa hiki ke lilo i mea maʻi a mau no nā makahiki he ʻoi aku.

Nā hōʻailona e ʻike ʻia i nā keiki ʻelemakule iki:

• ʻAʻole paha e hiki iā ʻoe ke hele pono , a e hōʻino ʻia paha kou mau mākau neʻe.
• ʻOiai inā maopopo iā ʻoe ka ʻōlelo, ʻaʻole paha ʻoe e hiki ke ʻōlelo pono .
• ʻOiai inā hiki iā lākou ke ʻōlelo, hiki iā lākou ke kamaʻilio me nā huaʻōlelo a i ʻole nā ​​​​mālamalama pōkole loa .

He nui ka poʻe me ka PURA syndrome e ʻike i nā hopu (epilepsy) a i ʻole nā ​​​​neʻe convulsive. ʻO kēia mau mea maʻamau:

• Hoʻomaka ia ma mua o ka piha ʻana o 5 mau makahiki. Hiki ke hoʻomaka mua ia me nā ʻūmiʻi ʻiʻo me ka manaʻo ʻole (myoclonus).
• He paʻakikī ke kaohi .
• I kekahi manawa hiki ke ulu a lilo i ʻano epilepsy koʻikoʻi a paʻakikī hoʻi i kapa ʻia ʻo "Lennox-Gastaut syndrome".

ʻO nā hōʻailona ʻē aʻe i ʻike pinepine ʻia i nā keiki a me nā pākeke:

• Nā pilikia o ka iwi a me nā hono - e like me ka hip dysplasia a me ka scoliosis.
• Nā pilikia hanu - ka hanu ʻana i ka wā hiamoe (sleep apnea) a i ʻole ka hanu lohi a pāpaʻu (hypoventilation).
• Ka paʻakikī i ka hoʻomehana ʻana i ke kino (hypothermia).
• Luhi nui a me ka hiamoe (hypersomnia).
• Nā pilikia maka - e like me ka strabismus.
• Hiccups pinepine.
• Nā pilikia o ka ʻōnaehana gastrointestinal - e like me ka constipation.
• Ke kani haʻahaʻa o nā ʻiʻo (hypotonia).
• Ke kaulike paʻa ʻole a paʻakikī paha i ka hele wāwae (gait disorder).
• Ka hemahema o ka ʻike maka.

Nā hōʻailona maʻamau ʻole:

• Nā kīnā o ka puʻuwai.
• Nā pilikia o ka ʻōnaehana endocrine - e like me ka nele o ka huaora D a i ʻole ka wā ʻōpiopio mua.
• Nā pilikia o ka ʻōnaehana mimi a me ka ʻōnaehana hānau.

Pehea e ʻike ʻia ai ka maʻi PURA?

Hiki ke paʻakikī ke ʻike i ka maʻi PURA ma muli o kahi hoʻokolokolo kino wale nō. E like me kā mākou i kūkākūkā ai ma mua, hiki i nā hōʻailona ke hoʻohālike i nā kūlana ʻē aʻe. No laila, pono nā kauka e hana i nā hoʻokolohua genetic e hōʻoia i ka maʻi PURA .

Ma muli o nā hōʻailona o kāu keiki, hiki i ke kauka ke hana i kekahi mau hoʻokolohua ʻē aʻe. Eia kekahi laʻana:

• Nā hoʻāʻo koko.
• Nā hoʻāʻo hanu.
• `(EEG)` (Electroencephalogram) - Hoʻāʻo kēia i ka hana uila o ka lolo.
• He hoʻokolokolo maka.

No ka ʻike hou aku, hiki i kāu kauka ke kauoha i nā hoʻokolohua kiʻi. ʻO kēia mau mea:

• ʻO ke kiʻi MRI (Magnetic Resonance Imaging).
• `(Hoʻāʻo ultrasound)`.
• Hoʻāʻo `(X-ray)`.

Aia kekahi lāʻau lapaʻau no ka maʻi PURA?

ʻO kēia ka pilikia nui loa no nā kānaka he nui. ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau piha no ka maʻi PURA i kēia manawa.Eia nō naʻe, hiki i ka ʻike mua ʻana a me ka mālama ʻana ke hōʻemi i ka pilikia o nā pilikia e like me ka scoliosis. Hiki i nā kauka ke ʻōlelo i nā lāʻau lapaʻau e hiki ke kōkua iā ʻoe a me kāu keiki e hoʻokele i nā hōʻailona. Me ka lāʻau lapaʻau kūpono, hiki i kāu keiki ke komo i nā hana he nui e like me ka hiki a hoʻomaʻalahi iki i ke ola .

ʻO wai ka mea hiki ke hoʻokomo ʻia i loko o ka hui lapaʻau no ka PURA syndrome o kāu keiki?

Inā loaʻa i kāu keiki ka maʻi PURA, hiki i ka hui lapaʻau e mālama nei iā lākou ke komo pū me nā ʻano loea like ʻole. ʻO ke ʻano kēia, ʻaʻole hoʻokahi kauka wale nō, akā he nui nā kānaka e hana pū ana e hāʻawi i ka lāʻau maikaʻi loa no kāu keiki. Hiki i kēlā hui ke komo pū me nā poʻe e like me:

• He kauka maka.
• He loea i ka ʻike ʻana i nā ʻano o ka lolo.
• He kauka loea i ka ʻōnaehana nerve (neurologist).
• ʻO ka mea lapaʻau hana - kekahi mea kōkua i nā hana o kēlā me kēia lā.
• He kauka lapaʻau iwi.
• He kauka keiki.
• ʻO kahi mea hoʻōla kino kekahi mea e kōkua me nā mea e like me ka hele wāwae a me ka neʻe ʻana.
• He kauka loea i ka ʻōnaehana hanu (pulmonologist).
• He kauka ʻōlelo a me ke kauka lapaʻau.

Hana pū kēia poʻe a pau e hana i kahi hoʻolālā lapaʻau e kūpono loa i ke kūlana o ke keiki.

Pehea e mālama ʻia ai ka maʻi PURA?

ʻOkoʻa ka lāʻau no ka PURA syndrome ma muli o nā hōʻailona o ke keiki a me ko lākou koʻikoʻi . Inā loaʻa i kahi keiki hānau hou ka PURA syndrome, pono pinepine lākou e nānā ʻia ma ka haukapila a hāʻawi ʻia ke kōkua me ka hānai ʻana a me ka hanu ʻana.

ʻO ka maʻamau, mālama ʻia nā keiki makua penei:

• Ka lapaʻau ʻōlelo a me ka ʻōlelo - Hoʻomaikaʻi i nā mākau kamaʻilio.
• Hoʻōla kino - Hoʻomaikaʻi i ka neʻe ʻana.
• I kekahi mau hihia, hiki ke hana ʻia ke ʻoki ʻana e hoʻoponopono i nā ʻano maka, puʻuwai, iwi kuamoʻo, a i ʻole nā ​​​​​​mea ʻē aʻe.

Hiki nō hoʻi iā ʻoe ke hāʻawi i kāu keiki i nā mea e like me:

• Nā lāʻau lapaʻau antiseizure.
• Nā mea kōkua kamaʻilio.
• Ke hānai ʻana a i ʻole ke ale ʻana i ke kākoʻo.
• Hoʻōla kino a me ka hana.
• Ka hoʻōla ʻōlelo a me ka ʻōlelo.
• Nā mea kōkua - e like me nā strollers adaptive, nā braces, nā orthotics, nā mea hele wāwae, a i ʻole nā ​​​​noho huila.

He aha kaʻu e hana ai e hōʻemi i ka pilikia o ka loaʻa ʻana o ka PURA syndrome i kaʻu keiki?

He mea kēia a nā mākua he nui e noʻonoʻo nei. Akā ʻo ka ʻoiaʻiʻo, ʻaʻohe ala e pale aku ai i ka maʻi PURA . Eia kekahi,ʻAʻole ia i hana ʻia e kekahi mea āu e hana ai. Hoʻokumu ʻia ia e nā loli genetic (mutations) e hana ʻia i ka wā o ka ulu ʻana o ka fetal. No laila, mai manaʻo hewa no ia mea.

He aha ka manaʻo no kahi keiki me ka PURA syndrome?

He maʻi ola ʻole ka PURA syndrome no ke ola holoʻokoʻa . He nui nā keiki e loaʻa paha nā pilikia aʻo koʻikoʻi a me nā lohi o ka ulu ʻana. ʻAʻole hiki i ka hapa nui ke kamaʻilio a hele wāwae paha ma o lākou iho . Eia nō naʻe, e hoʻomanaʻo e hiki i nā lāʻau lapaʻau kūpono ke hāʻawi i kāu keiki i kahi ola maikaʻi aʻe . Me ka lāʻau lapaʻau, hiki iā lākou ke hauʻoli a ulu i ko lākou hiki piha.

Āhea wau e ʻimi ai i ke kōkua lapaʻau no kaʻu keiki?

He mea nui ka ʻike mua ʻana i ka maʻi PURA no ka mālama ʻana i nā hōʻailona a me ka hōʻemi ʻana i ka pilikia o nā pilikia . E hana paha nā kauka i nā nānā maʻamau e loiloi i ke olakino a me nā hōʻailona o kāu keiki. E kōkua kāu kauka iā ʻoe e hoʻomohala i kahi hoʻolālā mālama pilikino e kūpono i nā pono a me nā pahuhopu o kāu keiki.

He mea maʻamau ka manaʻo kaumaha a me ka hopohopo ke loaʻa iā ʻoe kahi maʻi e like me ka PURA syndrome. He maʻi genetic kakaikahi loa kēia e hoʻopilikia i ka ʻōnaehana nerve, e hoʻoulu ai i nā pilikia aʻo koʻikoʻi, nā lohi o ka ulu ʻana, a me ka maʻi epilepsy pinepine. Eia nō naʻe, me ka hui kūpono o nā lāʻau lapaʻau, hiki i kāu keiki ke loaʻa kahi ola maikaʻi aʻe . E kamaʻilio me kāu kauka e pili ana i nā lāʻau lapaʻau kūpono e hiki ke hoʻololi i ka ulu ʻana o kāu keiki. ʻAʻole ʻoe hoʻokahi , a aia nā kauka, nā mea hoʻōla, a me nā mea ʻē aʻe he nui e hiki ke kōkua iā ʻoe ma kēia huakaʻi.

ʻO ka mea hope loa, nā mea nui e pono ai ʻoe e hoʻomanaʻo (Leka Lawe-Home)

ʻOiai he maʻi laha ʻole ka PURA syndrome, he mea nui loa ia e ʻike i ia mea.

• ʻO ka hopena nui kēia i ka ʻōnaehana nerve a hiki ke hana i nā kūlana e like me ka lohi o ka hoʻomohala ʻana, nā pilikia aʻo, a me ka maʻi epilepsy.
• ʻO ka ʻike mua ʻana a me ka hoʻomaka ʻana o ka lāʻau kūpono e hele lōʻihi i ka hoʻomaikaʻi ʻana i ke ola o ke keiki.
• ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, aia nā ʻano lāʻau like ʻole e kāohi i nā hōʻailona a hōʻemi i nā pilikia .
• Hana pū kekahi hui o nā kauka mai nā loea like ʻole e hāʻawi i ke keiki i ka lāʻau lapaʻau e pono ai.
• ʻAʻohe ala e pale aku ai i kēia kūlana mai ka hanana ʻana, a ma ke ʻano he mau mākua, ʻaʻole pono ʻoe e manaʻo hewa no ia mea .
• Inā he mau hopohopo kāu e pili ana i ka ulu ʻana o kāu keiki a i ʻole ke olakino, mai hopohopo a e ʻimi koke i ke kōkua lapaʻau . ʻO ia ka mea maikaʻi loa hiki iā ʻoe ke hana.

E hoʻomanaʻo, he mea makamae kēlā me kēia keiki, a he pono i kēlā me kēia keiki ke aloha a me ka mālama maikaʻi loa.

`ʻO ka maʻi PURA, nā maʻi genetic, ka ʻōnaehana nerve, ka lohi o ka ulu ʻana, ka maʻi epilepsy, ke olakino o ke keiki, nā maʻi laha ʻole