Ua ʻike anei ʻoe i ka ROHHAD Syndrome? Loaʻa i kāu keiki kēia mau hōʻailona?

Ua hoʻomaka koke anei kāu keiki liʻiliʻi e nui loa? A i ʻole ua ʻike ʻoe he paʻakikī iā lākou ke hanu i ka wā e hiamoe ana? I kekahi manawa he mau hōʻailona kēia o kahi maʻi laha ʻole i kapa ʻia ʻo ROHHAD Syndrome. E kamaʻilio kākou e pili ana i kēia me nā kikoʻī hou aku, no ka mea, he mea nui loa ka makaʻala i nā mea e like me kēia.

He aha ka maʻi ROHHAD?

I ka ʻōlelo maʻalahi, ʻo ka ROHHAD Syndrome kahi maʻi laha ʻole a hoʻoweliweli i ke ola e hoʻopilikia ana i nā keiki ʻōpio. Hoʻopilikia nui ia i ka ʻōnaehana endocrine, ka ʻōnaehana nerve autonomic, a me ka hanu ʻana. Hiki i nā keiki me kēia maʻi ke loaʻa ke kaumaha nui i loko o kahi manawa pōkole loa . Hiki iā lākou ke ʻike i nā loli i nā ʻano hanu, ke ʻano, a me ka hoʻoponopono ʻana o ka naʻau i ka wā e hiamoe ana a i kekahi manawa i ka wā e ala ana.

He maʻi lapaʻau hou ka maʻi ROHHAD. Ua ʻike mua ʻia a wehewehe ʻia i ka makahiki 1965. No ka noʻonoʻo ʻana, ʻaʻole i hiki i ka 200 mau hihia o kēia maʻi i hōʻike ʻia ma ka honua holoʻokoʻa. No laila hiki iā ʻoe ke noʻonoʻo i kona kakaikahi. Ke noiʻi nei nā loea lapaʻau i ke ʻano e ʻike ai i ke kumu pololei a loaʻa kahi lāʻau lapaʻau mau loa. I kēia manawa, ʻaʻohe hoʻāʻo kikoʻī a lāʻau lapaʻau paha no ka maʻi ROHHAD. No laila, mālama nā kauka i kēlā me kēia keiki ma muli o kā lākou mau hōʻailona.

He aha nā hōʻailona o ka maʻi ROHHAD?

ʻO ka maʻamau, olakino nā keiki me ka maʻi ROHHAD a ulu maʻamau lākou ma mua o ka ʻike ʻia ʻana o nā hōʻailona. ʻOiai hiki ke ʻike ʻia nā hōʻailona i ka wā mua o 9 mau makahiki, hōʻike ka hapa nui o nā keiki i kā lākou mau hōʻailona mua ma waena o nā makahiki 2 a me 4.

Ua loaʻa ka inoa ʻo 'ROHHAD' mai nā leka mua o nā hōʻailona nui ʻehā o kēia maʻi. E nānā kākou i ko lākou ʻano:

• (RO) Ka momona wikiwiki: ʻO kēia ka manawa e piʻi koke ai ka makemake o ke keiki , e alakaʻi ana i ka piʻi nui ʻana o ke kaumaha o 20-30 paona (9-13 kilokani) i loko o kahi manawa pōkole, ma waena o ʻekolu a me ʻumikūmālua mahina. ʻO kēia ka hōʻailona mua o ka momona. E noʻonoʻo, ʻaʻole ia he piʻi wale nō ke kaumaha, he loli wikiwiki loa ia a ʻike ʻia.

• (H) Hypothalamic Dysregulation: ʻO ka hypothalamus kahi ʻāpana o kou lolo e kaohi ana i ka pituitary gland. Hoʻoponopono pū ia i nā mea he nui e like me ka ulu ʻana o ke kino, ke kaumaha, ka makemake, ka wā ʻōpiopio, nā manaʻo, a me ke ʻano. No laila, inā he pilikia i kāna hana, ʻo ke keikiHiki ke loaʻa nā hōʻailona e like me ka momona, ke kino pōkole, nā maʻi ʻūlū, ka lohi o ka ulu ʻana, ka hoʻonui ʻia a i ʻole ka emi ʻana o ka mimi ʻana, a me ka wā ʻōpiopio mua a lohi paha . Eia kekahi, hiki ke loaʻa pū nā kūlana e like me ka hypothyroidism a me ka maʻi diabetes mellitus .

• (H) Hypoventilation: ʻAʻole hiki i nā keiki me ka maʻi ROHHAD ke kāohi pono i ko lākou hanu ʻana. ʻO ke ʻano kēia, ke emi ka pae oxygen i loko o ke koko a i ʻole ke piʻi ʻana o ka pae carbon dioxide, ʻaʻole hanu hohonu a wikiwiki paha ke kino e uku ai. He kūlana weliweli loa kēia. I kekahi manawa, hiki ke hiki koke mai, e like me ma hope o kahi maʻi hanu liʻiliʻi, e like me ke anu, a ma hope paha o ka anesthesia.

• (AD) Autonomic Dysregulation: Hoʻokele ka ʻōnaehana nerve autonomic (ANS) o ko mākou kino i nā hana kumu i hiki ʻole iā mākou ke kaohi, e like me ka hanu ʻana, ka ʻai ʻana, ka helu o ka puʻuwai, a me ka mahana o ke kino. No laila, ʻike paha nā keiki me ka hōʻino ʻia i kēia ʻōnaehana nerve autonomic i nā hōʻailona e like me ka lohi o ka puʻuwai (Bradycardia), ka mahana o ke kino haʻahaʻa, a me ka emi ʻana o ka ʻike ʻana i ka ʻeha . E noʻonoʻo, ʻo ka manaʻo ʻana i ka emi ʻana o ka ʻeha ʻo ia hoʻi, ʻoiai i loko o kahi ulia koʻikoʻi, ʻaʻole paha e ʻike ke keiki.

He aha nā kumu o ka maʻi ROHHAD?

ʻO kaʻoiaʻiʻo, ʻaʻole i loaʻa i nā kauka kahi kumu paʻa no ka maʻi ROHHAD. Eia nō naʻe, aia ʻekolu mau kumumanaʻo nui e noiʻi ʻia nei e hiki ke wehewehe iā ia.

1. Genetics: Manaʻo ka nui o nā kānaka noiʻi ua hoʻokumu ʻia ka maʻi ROHHAD e kahi mutation genetic . Eia naʻe, ʻaʻole i ʻike ʻia ke ʻano kikoʻī. Hoʻomalu ʻia nā mea āpau i loko o ko mākou kino e nā genes, no laila hiki i kekahi loli ke hoʻopilikia iā ia.

2. Epigenetics: Manaʻo kekahi poʻe noiʻi e hiki ke hoʻā ʻia nā genes e kāohi ana i kekahi mau hana i loko o ko kākou kino i ka wā e pono ai a hoʻopau ʻia i ka wā ʻaʻole pono. Ua kapa ʻia kēia he epigenetics. Hoʻokumu ʻia kēia manaʻo ma kahi noiʻi i hana ʻia ma nā māhoe like. I loko o ia mea, ua loaʻa i kekahi keiki ka maʻi ROHHAD, ʻoiai ʻaʻole i loaʻa i kekahi. No laila, hiki ke manaʻo ʻia ʻaʻole wale nā ​​​​genes, akā ʻo nā ʻokoʻa i ke ʻano o ka hana ʻana o kēlā mau genes e hoʻopilikia i kēia.

3. Autoimmunity: Hōʻike kekahi mau noiʻi he maʻi autoimmune nō hoʻi ka maʻi ROHHAD.Ua loaʻa kahi pilina ma waena o nā maʻi autoimmune, kahi e hoʻouka ai ka ʻōnaehana pale ponoʻī o ke kino i kāna mau cell ponoʻī. Ma kekahi noiʻi, ua ʻike ʻia he mau antibodies i kapa ʻia he immunoglobulins i loko o ka wai cerebrospinal (CSF) , ka wai e hoʻopuni ana i ka lolo a me ke kaula spinal. Ma ka hoʻohana ʻana i kēia ʻike, ua hoʻoholo nā mea noiʻi he mumū i loko o ka ʻōnaehana nerve waena (CNS) , ka lolo a me ke kaula spinal. ʻO ia hoʻi, ua kuhihewa ka ʻōnaehana pale ponoʻī o ke kino i ka lolo.

He aha nā pilikia o ka maʻi ROHHAD?

Ma waho aʻe o nā hōʻailona nui a mākou i kūkākūkā ai ma mua, hiki i nā keiki me ka maʻi ROHHAD ke loaʻa i nā pilikia ʻē aʻe, ʻo ia hoʻi, nā pilikia olakino hou aʻe. He mea nui e makaʻala i kēia mau mea:

• Nā pilikia noʻonoʻo a me ke ʻano: Hiki i kēia mau keiki ke ʻike i nā kūlana e like me ka hoʻomaha ʻole, ka huhū, ka hyperactivity, ka luhi mau, ka hopohopo, ke kaumaha, a me ke kīnā noʻonoʻo . Hiki i kēia mau mea ke hoʻopilikia i ke ola o ke keiki i kēlā me kēia lā a me ka ʻohana.

• Nā pilikia o ka ʻōnaehana nerve: Hiki i nā keiki me ka maʻi ROHHAD ke loaʻa i nā kūlana e like me nā hopu ʻana, nā neʻe maka ʻē (nystagmus), apnea hiamoe, a i ʻole nā ​​​​maʻi ulu .

• Nā maʻi metabolic: ʻO nā maʻi metabolic maʻamau i waena o kēia mau keiki ʻo ia ka Diabetes Mellitus, ke kūʻē ʻana o ka insulin, ka hoʻomaloka glucose impaired, a me ka maʻi ate Steatotic (momona). He mau kūlana kēia e hiki ke loaʻa nā hopena olakino lōʻihi.

• Nā puʻupuʻu neural: Ma waena o 40% a me 56% o nā keiki me ka maʻi ROHHAD e hoʻomohala i nā puʻupuʻu o nā aʻalolo. ʻO kahi laʻana he ʻano puʻupuʻu i kapa ʻia he ganglioneuroma . ʻO ka hapa nui o kēia mau puʻupuʻu he benign , akā hiki i kekahi manawa ke lilo i malignant . No laila, ke makaʻala mau nei nā kauka i kēia.

• Hoʻopau ʻana o ka hanu ʻana: ʻO kēia ka pilikia weliweli loa. He pau koke ka hanu ʻana a me ka hana a ka puʻuwai. Hiki i kēia ke hoʻoweliweli i ke ola.

Pehea e ʻike ʻia ai ka maʻi ROHHAD? (Diagnosis)

I kēia manawa, ua kapa ʻia ka maʻi ROHHADʻAʻohe hoʻokolohua hoʻokahi e hiki ke hōʻoia pono i ka hōʻailona. Akā, hana pū kahi hui o nā loea lapaʻau e hana i kahi hōʻailona ma muli o ka hui pū ʻana o nā hōʻailona o ke keiki. Ua like ia me kahi mākaʻi, e hōʻiliʻili ana i nā hōʻike a hiki i kahi hopena.

I mea e ʻike ʻia ai me ka maʻi ROHHAD, pono i ke keiki ke hoʻokō i kēia mau pae hoʻohālikelike:

• Pono e loaʻa nā hōʻailona ʻelua o ka hoʻomaka koke ʻana o ka momona a me ka hypoventilation i ka wā hiamoe.
• Pono e ʻike ʻia nā hōʻailona o ka hana ʻole o ka hypothalamic (e.g., ka piʻi wikiwiki ʻana o ke kaumaha, hypothyroidism, a i ʻole nā ​​​​loli i ka wā ʻōpio - mua a lohi paha).
• He mea nui e hōʻoia ʻaʻohe mutation (gene variant) i loko o ka gene `PHOX2B`. He mea nui kēia e hoʻokaʻawale iā ia mai ka `CCHS (Congenital Central Hypoventilation Syndrome),` ʻo kekahi maʻi ʻē aʻe i loaʻa kekahi mau hōʻailona like me ka ROHHAD syndrome (e.g., emi ka hanu ʻana i ka wā hiamoe).
• ʻAʻole paha e ʻike ʻia kēia mau hōʻailona i nā makahiki mua o ke ola. Hoʻomaka pinepine lākou ma hope.

No ka mea, he maʻi laha ʻole ka maʻi ROHHAD, hiki ke kuhi hewa ʻia nā keiki i ka wā mua. No laila, inā loaʻa iā ʻoe kēia mau hōʻailona, ​​​​he mea nui loa ia e ʻimi i ka ʻōlelo aʻoaʻo kūpono mai kahi hui lapaʻau akamai.

Pehea e mālama ʻia ai ka maʻi ROHHAD? (Lāʻau lapaʻau)

ʻOkoʻa ke ʻano o ka mālama ʻana no ka maʻi ROHHAD mai kekahi keiki a i kekahi keiki, ma muli o nā hōʻailona. ʻAʻole hiki ke hāʻawi ʻia i kēlā me kēia keiki i ka hoʻolālā mālama like, no ka mea, ʻokoʻa ke kūlana o kēlā me kēia kanaka. Eia naʻe, hoʻokahi mea like i nā mea a pau. Inā hōʻike kahi keiki me ka maʻi ROHHAD i nā ʻano hanu ʻole i ka wā e hiamoe ana, pono lākou e hoʻohana i kahi mīkini i kapa ʻia ʻo `CPAP` a i ʻole `BiPAP` e kōkua iā lākou e hanu. I ka hala ʻana o ka manawa, pono paha lākou e hoʻohana i kahi `ventilator` e kākoʻo piha i ke kaʻina hana hanu. He hana hoʻōla ola kēia.

I ka mālama ʻana i nā keiki me ka maʻi ROHHAD, pono ke kōkua o nā kauka pediatric ma nā ʻano like ʻole. Eia kekahi laʻana:

• Nā kauka lapaʻau pulmonology
• Nā kauka lolo
• Endocrinologists (nā kauka lapaʻau e loea i nā kelepa endocrine (hormones))
• Nā Kauka Lapaʻau Pepeiao, Ihu, a me ka ʻĀʻī (Nā Kauka Lapaʻau Pepeiao, Ihu, a me ka ʻĀʻī)
• Nā kauka puʻuwai
• Nā loea hiamoe
• Nā mea lapaʻau meaʻai
• Nā kauka ʻokiʻoki
• Nā kānaka noʻonoʻo
• Nā Kauka Noʻonoʻo

Ma o ka lokahi o kēia poʻe a pau mākou e hoʻoikaika nei e hāʻawi i ka lāʻau maikaʻi loa no ke keiki.

He aha ka wā e hiki mai ana o nā keiki me ka maʻi ROHHAD? (Outlook)

ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka maʻi ROHHAD i kēia manawa. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ka hoʻokele ʻana i nā hōʻailona kūikawā i kēlā me kēia keiki a mālama i ke ʻano o ke ola o ke keiki i ka maikaʻi loa.

ʻO ka maʻi ROHHAD a me ka manaʻolana ola

Ma muli o ka maʻi ROHHAD he ʻano laha ʻole ia, he paʻakikī ke kuhi pololei i ka manaʻolana ola. ʻAʻole lawa ka ʻikepili ma luna o ia mea.

Eia nō naʻe, ʻo ke kumu nui o ka make ʻana mai kēia maʻi he pilikia i kapa ʻia ʻo ka cardiorespiratory arrest, ʻo ia hoʻi ka pau koke ʻana o ka hana o ka puʻuwai a me ka ʻōnaehana hanu .

Hiki ke pale ʻia kēia? (Kāohi ʻana)

ʻAʻohe ala e pale aku ai i ka maʻi ROHHAD i kēia manawa - ʻaʻole loa i kēia manawa.

He maʻi laha ʻole a he mea hou ka maʻi ROHHAD. No laila, aia nō ka noiʻi ʻana i kēia maʻi i kona mau pae mua. Ke noʻonoʻo ʻoe i ke olakino o kāu keiki, hiki i kēlā me kēia lā e hala me ka ʻole o nā pane ke manaʻo he mau loa. Maopopo iā mākou kēlā. No laila, e ʻimi pono i ke kākoʻo mai kāu kauka. E hiki iā ia ke aʻo iā ʻoe i nā lāʻau e pono ai e mālama i nā hōʻailona o kāu keiki, a me nā kumu ʻike e pili ana i kēia maʻi.

ʻO nā mea nui loa a kākou e lawe ai i ka home mai kēia moʻolelo (Leka Lawe-Home)

ʻAe, i kēia manawa ua loaʻa iā ʻoe kekahi ʻike o ka ROHHAD Syndrome a mākou i kamaʻilio ai. Eia kekahi mau mea nui e hoʻomanaʻo:

• He maʻi laha ʻole ka maʻi ROHHAD, akā he maʻi koʻikoʻi loa ia.
• ʻO nā hōʻailona nui ka piʻi koke ʻana o ke kaumaha, ka paʻakikī o ka hanu ʻana, a me nā pilikia me nā hormones a me ka ʻōnaehana nerve autonomic.
• ʻAʻohe kumu kikoʻī a lāʻau lapaʻau mau loa paha no kēia. Hoʻokumu ʻia ka lāʻau lapaʻau ma nā hōʻailona e kū mai ana.
• Inā kānalua ʻoe ua loaʻa i kāu keiki kēia mau hōʻailona, ​​mai hopohopo, akā e ʻike koke i ke kauka kūpono no ka ʻōlelo aʻo.
• No ka mea he maʻi laha ʻole kēia, pono paha e lōʻihi ka manawa e loaʻa ai kahi hōʻailona pololei. Akā, mai hoʻōki.
• He mea nui loa e hahai i nā ʻōlelo aʻo a nā kauka a hāʻawi i ke keiki i ke kākoʻo e pono ai.

E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. He mea nui e ʻimi i ke kākoʻo mai nā kauka, ka ʻohana, a, inā pono, nā lawelawe aʻoaʻo i ka wā e hana ai i nā kūlana e like me kēia.

ʻO ka maʻi ROHHAD, ʻO ka maʻi ROHHAD, nā maʻi o nā keiki, ka momona koke, ka paʻakikī o ka hanu ʻana, Hypothalamus, nā maʻi laha ʻole