Ke ʻoni koke nei a ʻoʻoleʻa paha kāu pēpē? E aʻo kākou e pili ana i kēia hyperekplexia!

Ke pūʻiwa koke nei kāu keiki hānau hou a keiki paha i ke kani iki a i ʻole ka pā ʻana? Ke ʻoʻoleʻa nei ʻo ia a manaʻo e like me ka pā ʻia ʻana e kahi pōhaku? Ke manaʻo nei ʻo ia he pōkole iki ka hanu? Inā ua ʻike ʻoe i kekahi mea e like me kēia, he ʻano paha ia i kapa ʻia ʻo hyperekplexia. Mai hopohopo, e kamaʻilio mākou e pili ana i ia mea me nā kikoʻī.

He aha kēia hyperexplexia?

I ka ʻōlelo maʻalahi, he maʻi neurological kakaʻikahi loa ʻo Hyperekplexia. ʻO kēia ka wā e paʻakikī loa ai nā ʻiʻo o kāu pēpē (i kapa ʻia ʻo "Hypertonia" ma ke ʻano lapaʻau). No laila, paʻakikī iā lākou ke hoʻoneʻe pono i ko lākou mau ʻiʻo.

Eia kekahi, hōʻike kēia mau keiki i kahi pane hoʻohoka nui i nā mea hoʻonāukiuki koke a manaʻo ʻole ʻia (e like me ka walaʻau koke, ka hoʻopā ʻana, a i ʻole ka neʻe ʻana). Hiki i kēia hoʻohoka ke hoʻoulu i ke kino e ʻūlū a me nā maka e ʻālohilohi. Ma hope o kēia haʻalulu, lilo ke kino o ka pēpē i paʻa no kekahi manawa, a ʻaʻole hiki iā lākou ke neʻe. ʻO ka mea weliweli loa, ʻo ia ka pau ʻana o ka hanu ʻana o kekahi mau pēpē i kēia manawa. Inā hoʻomau kēia, hiki ke hoʻoweliweli i ke ola. I kekahi manawa pili paha kēia ʻano me ka Sudden Infant Death Syndrome (SIDS).

ʻIke pinepine nā kauka i kēia ʻano i nā pēpē hānau hou, ma mua a ma hope paha o ka hānau ʻana. Eia nō naʻe, hiki ke loaʻa kēia ʻano, i kapa ʻia ʻo hyperekplexia, i nā keiki a me nā pākeke pū kekahi.

Aia kekahi mau inoa ʻē aʻe no kēia ʻano:

• ʻO ka maʻi ʻoʻoleʻa hānau ((Congenital stiff-person syndrome))
• ʻO ka hyperekplexia hoʻoilina ((ʻO ka hyperekplexia hoʻoilina))
• Maʻi hoʻomaka
• ʻO ka maʻi hoʻomaka ((Startle syndrome))
• ʻO ka maʻi pēpē paʻakikī

Pehea ka maʻamau o kēia ʻano?

He mea kākaʻikahi loa kēia. E noʻonoʻo wale, ʻoiai ma kahi ʻāina e like me ʻAmelika, ʻike ʻia kēia ʻano ma kahi o hoʻokahi i loko o 40,000 mau kānaka. No laila, he mea kēia i ʻike kākaʻikahi loa ʻia ma Sri Lanka.

He aha nā hōʻailona o Hyperekplexia?

ʻElua ʻano nui o kēia ʻano: ʻAno nui a me ke ʻano liʻiliʻi.

ʻAno nui

ʻO kēia ka manawa e hoʻopūʻiwa koke ai ʻoe, me ka manaʻo ʻole ʻia, ma ke ʻano ʻē i ka pā ʻana, ka neʻe ʻana, a i ʻole ke kani ʻana. Ke hoʻopūʻiwa ʻoe, e manaʻo paha ʻoe i kou poʻo e kūlou ana i hope, e lele ana kou kino a hana i nā neʻe ʻē, a i ʻole e ʻoʻoleʻa kou kino a hāʻule i ka honua e like me ka pōhaku.

Ke hiamoe ka pēpē, hiki iā lākou ke neʻe i ka ʻūlū. Eia kekahi, he mea maʻamau ka hypertonia i waena o nā pēpē me kēia ʻano. Hiki iā lākou ke neʻe mālie (i kapa ʻia ʻo hypokinesia) a loaʻa paha iā lākou ke kīnā noʻonoʻo iki .

ʻO nā hōʻailona ʻē aʻe e hiki ke kū i nā pēpē, nā keiki, a me nā mākua me kēia ʻano nui o ka hyperekplexia:

• Hyperreflexia (nā reflexes nui loa)
• Apnea manawa ʻole (hoʻomaha hanu)
• Ka hele wāwae paʻa ʻole (hele wāwae paʻa ʻole)
• ʻO ka dislocation o ka hip i ka wā hānau
• ʻO nā hernia inguinal.

ʻAno liʻiliʻi

Ma kēia ʻano palupalu, ʻike pinepine ka poʻe me ka hyperekplexia i kahi pane hopohopo nui a pinepine ʻole. Hiki ke liʻiliʻi a ʻaʻohe paha nā hōʻailona ʻē aʻe. I nā pēpē, hiki ke hoʻonui ʻia ka ʻūlū ʻana ke loaʻa iā lākou ke kuni . I nā keiki a me nā pākeke, hiki ke hoʻonui ʻia ka ʻūlū ʻana ma muli o ke kaumaha a i ʻole ka hopohopo .

Hoʻomaka pinepine nā hōʻailona o nā ʻano ʻelua i ka wā hānau, akā no kekahi poʻe, hoʻomaka lākou e ʻike ʻia ma hope o ke ola, i ka wā kamaliʻi a i ʻole ka wā makua.

No ke aha e hana ai kēia hyperekplexia?

ʻO ke kumu nui o kēia, ʻo ia nā hoʻololi genetic. Ma kahi o nā mea i ʻike ʻia, hiki i ka liʻiliʻi he ʻelima mau genes like ʻole ke hana i kēia hyperekplexia. ʻO kēia mau genes:

• ʻATAD1
• GLRA1
• GLRB
• ʻO GPHN
• ʻO SLC6A5

He kuleana koʻikoʻi ko kēia mau genes i ka hana ʻana i kekahi mau protein i loko o kā mākou mau cell nerve (neurons). Hoʻomalu kēia mau protein i ke ʻano o ka pane ʻana o nā cell nerve i kahi mole i loko o ko mākou kino i kapa ʻia ʻo glycine. He amino acid ʻo Glycine, he poloka kūkulu ia o nā protein. He neurotransmitter nō hoʻi ʻo Glycine. He kemika kēia e hoʻouna i nā hōʻailona ma o kā mākou ʻōnaehana nerve.

ʻO ka maʻamau, kāohi ka glycine i ka hoʻoulu ʻana o nā olonā ʻiʻo. Eia nō naʻe, inā he loli genetic (mutation) i kekahi o nā genes i ʻōlelo ʻia ma luna, ua emi ka hopena o ka glycine ma ka ʻōnaehana nerve. A laila, hoʻouna nā hunaola nerve i nā leka i ka lolo a me nā ʻiʻo me ka ʻole o ke kaohi. ʻO ia ke kumu e hoʻomaka ai nā ʻiʻo e pane nui, a ʻike ʻia nā hōʻailona ʻē aʻe o ka hyperekplexia.

ʻElua ala e hiki ai iā ʻoe ke hoʻoilina i kēia ʻano, ʻo Hyperekplexia:

1. Ma ke ʻano autosomal dominant.

2. Ma ke ʻano autosomal recessive.

He mau pilikia hoʻoilina paʻakikī iki kēia, no laila hiki i kāu kauka ke wehewehe hou aku i kēia.

He aha nā pilikia o kēia maʻi?

Ua ʻōlelo mua mākou i ka wā e loaʻa ai i nā pēpē hānau hou ka hyperekplexia, lilo ko lākou kino i ʻoʻoleʻa a hiki ʻole ke neʻe no kekahi manawa. I loko o kēia ʻoʻoleʻa ʻana, hiki i kekahi mau pēpē ke oki i ka hanu ʻana. ʻO kēia kekahi kumu nui o ka maʻi make koke o nā pēpē (SIDS). ʻO SIDS ke kumu nui o nā make i wehewehe ʻole ʻia i nā pēpē ma lalo o hoʻokahi makahiki.

I ka hapanui pinepine, hiki i nā pēpē me ka hyperekplexia ke loaʻa i nā hopu ʻana ((Epilepsy)), a i ʻole ka mea a mākou e kapa nei he mau hopu epileptic.

ʻO ka maʻamau, e emi ana nā hōʻailona o ka hyperekplexia i ka piha ʻana o hoʻokahi makahiki. Eia nō naʻe, hiki i nā keiki a me nā pākeke me kēia ʻano ke hoʻomau i ka loaʻa ʻana o nā hanana o ka haʻalulu maʻalahi a me ka ʻoʻoleʻa. Hiki i kēia ke kumu iā lākou e hāʻule pinepine ai. I ko lākou ʻelemakule ʻana, hiki iā lākou ke emi iho ka hiki ke hoʻomanawanui i nā leo nui a me nā wahi piha kanaka. Hiki i ka poʻe me ka maʻi epilepsy ke loaʻa i nā hopu ʻana i ko lākou ola a pau.

Pehea ʻoe e ʻike ai i kēia?

I ke kuhikuhi ʻana i ke ʻano o Hyperekplexia, nānā nā kauka i ʻekolu mau hōʻailona nui:

• He ʻoʻoleʻa ke kino holoʻokoʻa ma hope koke iho o ka hānau ʻana .
• He pane hoʻohoka nui loa i kahi mea hoʻonāukiuki i manaʻo ʻole ʻia.
• Ma hope o ka hoʻopūʻiwa ʻia, lilo ke kino holoʻokoʻa i ʻoʻoleʻa no kekahi manawa pōkole.

ʻO nā hoʻokolohua maʻamau - nā hoʻokolohua koko, nā hoʻokolohua mimi, nā scan lolo a me nā EEG - hōʻike i nā hopena maʻamau. Eia nō naʻe, hiki i ka hoʻāʻo genetic ke ʻike i nā hoʻololi genetic ʻelima e pili ana i ke kūlana.

Aia kekahi lāʻau lapaʻau no Hyperekplexia?

ʻAe, hiki ke mālama ʻia! I nā keiki a me nā pākeke, ʻo ka lāʻau lapaʻau nui no ka hyperekplexia he lāʻau i kapa ʻia ʻo (Clonazepam), kahi e hōʻemi ai i ka hopohopo a hōʻemi i ka ʻoʻoleʻa o nā ʻiʻo. ʻO (Clonazepam) kahi lāʻau hoʻomaha mālie e pili ana i ka papa (Benzodiazepine). Kōkua ia i ka hōʻemi ʻana i nā hōʻailona o ka hyperekplexia, ʻoiai ka ʻoʻoleʻa o nā ʻiʻo. Hoʻomaopopo pinepine nā kauka i 0.01 a 0.1 milligrams no ke kilokani o ke kaumaha o ke kino i kēlā me kēia lā no nā keiki a me 0.8 milligrams i kēlā me kēia lā no nā pākeke.

Hiki i kāu kauka ke kuhikuhi i kekahi mau lāʻau lapaʻau ʻē aʻe e mālama ai i kēia maʻi. Eia kekahi laʻana:

• ʻO Carbamazepine ((Carbamazepine))
• Phenobarbital ((Phenobarbital))
• Phenytoin ((Phenytoin))
• Diazepam ((Diazepam))
• Sodium valproate ((Sodium valproate))

ʻO nā lāʻau ʻē aʻe e komo pū me ka lāʻau kino no nā pilikia hele wāwae a me ka cognitive-behavioral therapy (CBT) e hōʻemi i ka hopohopo.

He aha ka mea e hiki mai ana ma kēia kūlana? (Wānana)

I ka hapanui o nā hihia, e emi ana nā hōʻailona o ka hyperekplexia i nā pēpē i ka wā e hiki ai lākou i hoʻokahi makahiki. He nūhou hōʻoluʻolu maoli kēlā. Eia nō naʻe, i nā keiki a me nā pākeke, hiki i nā hopena o kēia ʻano ke mau i ke ola holoʻokoʻa. Eia nō naʻe, e like me ka mea i ʻōlelo ʻia ma mua, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona.

Hiki ke pale ʻia kēia?

He maʻi hoʻoilina ka Hyperekplexia, no laila ʻaʻole hiki ke pale ʻia. Inā hopohopo ʻoe a kānalua paha inā e hoʻoilina kāu keiki i kēia maʻi, he manaʻo maikaʻi e kamaʻilio me kahi kākāʻōlelo hoʻoilina. A laila hiki iā ʻoe ke loaʻa kahi ʻike maopopo e pili ana i kēia.

Pehea wau e mālama ai iaʻu iho? / E mālama i kaʻu keiki?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka hyperekplexia, he mea nui e lawe i ka lāʻau lapaʻau i kuhikuhi ʻia e kāu kauka me ka pololei a me ka manawa kūpono. E ʻōlelo aku kāu kauka i nā koho lapaʻau maikaʻi loa no kou kūlana. Pono kēia mau lāʻau lapaʻau e kōkua i ka kaohi ʻana i kāu mau hōʻailona.

Āhea wau e ʻike ai i ke kauka?

Inā loaʻa i kāu pēpē hānau hou ka hyperekplexia, e ʻike pinepine ke kauka iā ia i ka wā hānau. I kekahi manawa hiki ke ʻike ʻia ma mua o ka hānau ʻana. Inā hana ʻia kēia, e hoʻomaka koke ke kauka o kāu pēpē i ka lāʻau.

Eia nō naʻe, inā loaʻa iā ʻoe a i ʻole kāu keiki nā hopu ʻana i wehewehe ʻole ʻia , he mea nui e ʻike koke i ke kauka, no ka mea, ʻo kēia ʻano, i kapa ʻia ʻo hyperekplexia, hiki ke lilo i kumu o nā hopu ʻana.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

Inā loaʻa iā ʻoe a i kāu keiki paha ka hyperekplexia, he mea maikaʻi e nīnau i kāu kauka i kēia mau nīnau:

• No ke aha i kū mai ai kēia kūlana? (He aha ke kumu o kēia?)
• He aha ke koho lapaʻau āu e paipai nei?
• Hiki paha i kaʻu mau keiki e hiki mai ana ke loaʻa i kēia hyperekplexia?

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

He mea maʻamau ke kaumaha a me ka haʻalulu ke ʻike ʻoe ua loaʻa i kāu pēpē hānau hou ʻo Hyperekplexia. ʻAʻohe mea makemake e ʻike i kā lākou keiki e ʻeha ana. Akā inā ʻoe a i ʻole kāu keiki e ʻeha nei i kēia maʻi, e hoʻomanaʻo ʻaʻole ʻoe hoʻokahi. Aia mau kāu hui lapaʻau ma laila e kōkua iā ʻoe. E hāʻawi lākou iā ʻoe i ka lāʻau lapaʻau e kōkua i ka hoʻokele ʻana i nā hōʻailona o kēia maʻi.

ʻO ka mea nui loa, inā loaʻa i kāu pēpē ʻo Hyperekplexia,E hoʻomanaʻo e emi ana paha kēia mau hōʻailona i ka wā e hiki ai lākou i ko lākou lā hānau mua. He mea hōʻoluʻolu nui kēlā, ʻeā? No laila, e kū i kēia kūlana me ka wiwo ʻole, e hahai ana i nā ʻōlelo aʻoaʻo lapaʻau.

ʻO Hyperekplexia, ka ʻūlū ʻana o nā pēpē, nā ʻūmiʻi ʻiʻo, nā maʻi neurological, nā maʻi genetic, nā pēpē hānau hou, SIDS, clonazepam