Ke pilikia nei kāu pēpē i ka ulu ʻana o ka lolo? E kamaʻilio kākou e pili ana i ka Joubert Syndrome

Manaʻo mau ʻoe i ke olakino o kāu keiki liʻiliʻi, ʻeā? I kekahi manawa, hiki i nā pēpē ke loaʻa i nā maʻi olakino kakaʻikahi loa. ʻO kekahi o ia ʻano maʻi ʻo Joubert Syndrome. Manaʻo paha ʻoe i kahi mea ʻē ke lohe ʻoe i kēia inoa, akā e kamaʻilio maʻalahi kākou e pili ana. He ʻano kēia i hoʻokumu ʻia e nā kumu genetic a hoʻopilikia i ka ulu ʻana o ka lolo o ka pēpē.

He aha ka Joubert Syndrome? I ka pōkole...

He maʻi hoʻoilina laha ʻole ka maʻi Joubert. Hana ʻia ia i ka wā e ulu pono ʻole ai kahi ʻāpana o ka lolo o ke keiki i ka wā o ka ulu ʻana o ka fetal, ʻo ia hoʻi, ʻoiai i loko o ka ʻōpū o ka makuahine. E noʻonoʻo e pili ana i ia mea, ua like ko kākou lolo me kahi mīkini paʻakikī loa. ʻO nā ʻāpana like ʻole o ia mea e kāohi i kā kākou mau hana āpau ma ka hana pū ʻana. No laila, ma kēia kūlana , ʻo ka ulu ʻana o ka cerebellum a me ka brainstem ka mea nui e hoʻopilikia ʻia.

Aia nā ʻano like ʻole o kēia maʻi, no laila hiki ke ʻokoʻa nā hōʻailona mai kekahi keiki a i kekahi. Eia nō naʻe, ʻo nā hōʻailona maʻamau e komo pū me nā pilikia me ka kaohi ʻana o nā ʻiʻo, nā loli i ke kani o nā ʻiʻo, nā pilikia hanu, a me nā pilikia me ka neʻe ʻana o nā maka.

Ma ka honua holoʻokoʻa, ma kahi o hoʻokahi i loko o kēlā me kēia 100,000 pēpē i hānau ʻia me kēia maʻi. ʻO ka hapa nui, ʻo kēia ma muli o nā hoʻololi genetic i hoʻoilina ʻia mai nā mākua mai. Akā i kekahi manawa, hiki ke kū pinepine kēia maʻi me ke kumu ʻole.

He aha nā hōʻailona o ka Joubert syndrome?

Hiki i ke keiki me ka Joubert syndrome ke hōʻike i nā ʻano hōʻailona like ʻole. Hiki ke loli kēia mau hōʻailona i ka wā e ulu ana ke keiki. ʻO nā hōʻailona nui e pili ana i nā loli kino, nā pilikia maka, a me nā pilikia o ke akepaʻa a me nā puʻupaʻa.

Nā pilikia e pili ana i ka ʻōnaehana nerve:

Loaʻa paha i kāu keiki nā pilikia a i ʻole nā ​​kūlana e pili ana i ka ʻōnaehana nerve e like me:

• Haʻahaʻa ke kani o nā ʻiʻo (Hypotonia): ʻO kēia ka manawa e palupalu loa ai nā ʻiʻo o ke kino o ke keiki. Ma hope mai, hiki i kēia ke lilo i pilikia me ka hoʻonohonoho ʻana o nā ʻiʻo (ataxia) . ʻO ia hoʻi, lilo ia i mea paʻakikī ke hele a hopu paha i nā mea.
• Nā pilikia maka: No ka laʻana, e ʻike paha ʻoe i nā neʻe maka wikiwiki loa (nystagmus) a i ʻole strabismus (nā maka e huli ana i nā ʻaoʻao like ʻole).
• Nā pilikia hanu: Hiki i kēia ke komo pū me ka hanu wikiwiki a pāpaʻu (tachypnea) a i ʻole nā ​​​​hoʻomaha i ka hanu ʻana (apnea) . He mea maʻamau kēia i nā pēpē ʻōpio.
• Nā lohi o ka ulu ʻana: Hiki i ke keiki ke lohi i nā mea e like me ke kamaʻilio ʻana, ka hele wāwae ʻana, a me ka pāʻani ʻana i kūpono i ko lākou mau makahiki.
• Ke kīnā noʻonoʻo: Loaʻa paha i kekahi mau keiki kekahi mau nāwaliwali i nā mea e like me ke akamai aʻo a me ka hoʻomaopopo ʻana.

Nā loli kino:

Hiki ke ʻike ʻia kekahi mau hiʻohiʻona kūikawā i ke ʻano o nā keiki me kēia maʻi:

• Lehelehe māwae a me/a i ʻole lehelehe māwae .
• Nā hiʻohiʻona helehelena kikoʻī: No ka laʻana, he lae ākea, nā lihilihi maka e kūlou ana (`ptosis`) , kahi mamao ākea ma waena o nā maka ma mua o ka maʻamau. Hiki ke hoʻonoho ʻia nā pepeiao ma lalo o ka maʻamau, a hiki ke ʻano huinakolu ka waha me ka lehelehe luna i hoʻohuli ʻia i waenakonu.
• Loaʻa nā manamana lima keu (Polydactyly) (ma nā lima a i ʻole nā ​​​​wāwae).
• Ke alelo e kīkoʻo ana .

Nā kūlana olakino ʻē aʻe:

I ka ulu ʻana o ke keiki, hiki ke ulu aʻe nā pilikia me ka retina (ka ʻāpana o ka maka e hoʻololi i ka mālamalama i nā kiʻi), nā puʻupaʻa, a me ke akepaʻa. No ka laʻana, hiki ke ulu aʻe ka amaurosis hānau ʻo Leber (kahi maʻi ʻike maka koʻikoʻi), ka maʻi puʻupaʻa polycystic , a i ʻole ka hāʻule ʻana o ke akepaʻa .

No ke aha i loaʻa ai ka maʻi Joubert? He aha nā kumu?

ʻO ke kumu nui o ka maʻi Joubert he mau loli i loko o nā genes, i kapa ʻia he mutations . Hiki ke hana ʻia ke kūlana e nā mutations ma mua o 35 mau genes like ʻole e kōkua ana i ka ulu ʻana o ka lolo.

ʻO ka hapa nui o ka manawa, ua hoʻoilina ʻia kēia mau hoʻololi genetic ma ke ʻano autosomal recessive . I ka ʻōlelo maʻalahi, e loaʻa i kahi keiki ka maʻi inā hoʻoilina lākou i ka gene mutated mai ko lākou makuahine a me ko lākou makuakāne.

Eia nō naʻe, hiki ke hoʻoilina ʻia kekahi o kēia mau mutations ma ke ʻano he mutation 'X-linked' . ʻO ia hoʻi, aia ka mutation gene ma ka chromosome X. Hiki ke hoʻoili ʻia nā mutations ma ka chromosome X i ke keiki ma ke ʻano he mutation dominant a i ʻole he mutation recessive. Eia naʻe, ʻaʻole maopopo mau pehea i loaʻa ai i ke keiki mai nā mākua mai.

Hoʻokumu kēia mau hoʻololi genetic i nā mea ʻē aʻe ma nā ʻāpana o ka lolo o ke keiki:

• Cerebellum: ʻO kēia kahi e kāohi ai mākou i kā mākou hoʻonohonoho ʻana a me ka neʻe ʻana. I ka maʻi Joubert, ʻo ka cerebellar vermis, kahi ʻāpana o ka cerebellum, e nalowale ana paha a i ʻole e liʻiliʻi paha ma mua o ka maʻamau.
• ʻO ke kumu lolo: Hoʻomalu kēia i ka hanu ʻana a me ke kaulike. ʻAʻole hoʻi kēia e ulu pono. Ma nā kiʻi imaging, ua like kēia cerebellar vermis a me ka brainstem me ka niho. Ua kapa nā kauka i kēia he hōʻailona niho molar . ʻO ka ʻike ʻana i kēia hōʻailona kekahi ala e ʻike ai i ka maʻi Joubert.
• ʻO Cilia:He mau ʻano liʻiliʻi kēia e puka mai ana mai ka ʻili o nā cell, e like me nā antenna e puka mai ana mai ka hale o kahi hale. ʻO kēia mau cilia, i loaʻa i loko o nā cell lolo, kōkua i nā ʻōpū e kamaʻilio pū kekahi me kekahi i ko lākou ulu ʻana. Manaʻo nā kānaka noiʻi ʻo nā hoʻololi genetic e hoʻopilikia ana i kēia mau cilia ke kuleana no nā pilikia maka, nā puʻupaʻa, a me ke akepaʻa i loaʻa i ka poʻe me ka Joubert syndrome.

Pehea ka hopena o kēia mau hoʻololi hoʻoilina i ke koena o ka ʻohana?

Aia ia i nā kumu e like me ke ʻano o ka mutation genetic a me ke kāne.

• Hoʻoilina autosomal recessive: He 25% ka manawa e loaʻa ai ke kūlana i kahi kaikaina o kahi keiki me ka Joubert syndrome. Aia he 50% ka manawa e lilo ai i mea lawe o ka mutation gene me ka ʻole o nā hōʻailona. Aia he 25% ka manawa e loaʻa ʻole ai ka mutation gene a i ʻole nā ​​​​hōʻailona.
• Hoʻoilina i hoʻopili ʻia me ka X: Loaʻa i ke keiki kāne he 50% ka manawa e loaʻa ai ke ʻano. Akā inā ʻaʻohe hōʻailona o kona maʻi, ʻaʻole ia he mea lawe. Loaʻa i ke keiki wahine he 25% ka manawa e loaʻa ai ke ʻano. Aia he 50% ka manawa e lilo ai i mea lawe o ka hoʻololi ʻana o ka gene me ka ʻole o ka hōʻailona.

Pehea e ʻike ʻia ai ka maʻi Joubert?

Hoʻoponopono nā kauka i ka maʻi Joubert ma muli o nā hōʻailona o ke keiki a me nā hoʻokolohua kiʻi. ʻO nā pae hoʻohālikelike no ka ʻike ʻana i kēia maʻi:

• ʻIke ʻia ka hōʻailona 'niho molar' ma kahi scan MRI (Magnetic Resonance Imaging) o ka lolo.
• Nā hōʻailona o ke kani haʻahaʻa o nā ʻiʻo (Hypotonia) .
• Nā lohi o ka hoʻomohala ʻana .

Hiki i nā kauka ke kauoha i nā hoʻokolohua genetic e hōʻoia i ka hōʻailona a hoʻolālā i ka lāʻau lapaʻau. Ua hōʻike ʻia nā haʻawina ma waena o 62% a me 94% o nā keiki me ka Joubert syndrome kekahi o nā mutations genetic e hoʻokumu ai. ʻO ka ʻike ʻana i ka mutation genetic pololei e hiki ke kōkua i nā kauka e wānana i nā pilikia olakino e hiki mai ana a mālama iā lākou i ka wā mua.

"He mea nui loa ka 'hōʻailona niho molar' ma ka MRI o ka lolo i ka ʻike ʻana i ka maʻi Joubert. He mea kōkua nui nō hoʻi ka hoʻāʻo ʻana i ka genetic i ka hōʻoia ʻana i ka maʻi a me ka hoʻolālā ʻana i ka lāʻau e hiki mai ana."

Hiki ke ʻike ʻia kēia ma o nā hoʻokolohua prenatal?

Hiki nō, akā, ʻaʻole i nā manawa a pau. Hiki ke ʻike ʻia nā loli i loko o ke kumu lolo o ka fetal a i ʻole ka cerebellum i kekahi manawa ma kahi MRI prenatal . Eia nō naʻe, ʻaʻole paha e ʻike ʻia kekahi mau mea ʻē i loko o ka lolo fetal ma kahi scan MRI.

He aha nā lāʻau lapaʻau no ka Joubert syndrome?

ʻOkoʻa ke ʻano o ka lāʻau lapaʻau mai kēlā keiki a kēia keiki. Aia ia i nā mea e like me ke ʻano o ka maʻi a pehea e hoʻopilikia ai i ke keiki. Eia kekahi laʻana:

• Inā pilikia kāu pēpē i ka hanu ʻana, hiki ke hāʻawi ʻia aku ka mālama kākoʻo e like me ka oxygen hoʻohui a i ʻole ka ea mechanical .
• Hiki i nā keiki o nā makahiki āpau me nā lohi o ka ulu ʻana ke loaʻa i ka hoʻōla kino , ka hoʻōla ʻōlelo a me ka ʻōlelo, a me ka hoʻōla hana . Hiki i kēia mau mea ke kōkua i ka maʻalahi o nā hana o kēlā me kēia lā no ke keiki.
• Hiki i ke keiki me kahi maʻi maka e like me ka strabismus ke hana ʻia ke ʻoki kino (ʻoki strabismus) .

Ma muli o ka hopena o ka maʻi Joubert i kāu keiki, pono paha ʻoe e ʻike pinepine i nā loea e ʻike, nānā, a mālama i nā kūlana e like me ka maʻi puʻupaʻa, nā pilikia maka, a me nā pilikia o ka ʻōnaehana nerve.

Inā loaʻa i kaʻu keiki ka Joubert syndrome, he aha kaʻu e manaʻo ai?

ʻO ka wā e hiki mai ana o nā pēpē a me nā keiki me ka Joubert syndrome e hilinaʻi ʻia ana i kekahi mau kumu. ʻO ka mea nui, ʻo ka hoʻololi ʻana o ka genetic e pili ana i ke keiki he mea nui ia. Ma ke ʻano laulā, pono nā keiki me ka Joubert syndrome i ka mālama olakino no ke ola holoʻokoʻa a me ke kākoʻo ʻē aʻe. ʻO ke kauka o kāu keiki ka mea maikaʻi loa e hāʻawi iā ʻoe i ka ʻike e pili ana i kēia.

He aha ke kūlana o ke ola o kahi pēpē i hānau ʻia me ka Joubert syndrome?

Hiki i ka maʻi Joubert ke make i ka wā kamaliʻi. Eia nō naʻe, ola kekahi poʻe me ke ʻano a hiki i ka wā makua. Ke aʻo nei nā kānaka noiʻi i ka manaʻolana ola o kēia ʻano laha ʻole. Eia kekahi, he kū hoʻokahi ke ʻano o kāu keiki, ʻo ia hoʻi ke ʻano o ka maʻi e pili ana iā lākou he ʻokoʻa. He mea maʻamau ka makemake e ʻike i ka lōʻihi o ke ola o kāu keiki. ʻO ka hui lapaʻau o kāu keiki ke kumu maikaʻi loa o ka ʻike e pili ana i kēia.

Hiki iaʻu ke pale aku i ka Joubert syndrome?

ʻO ka mea pōʻino, ʻaʻohe ala e pale aku ai i ka maʻi Joubert. Eia nō naʻe, hiki i nā geneticists a me nā kākāʻōlelo genetic ke kōkua i ka hoʻoholo ʻana inā pilikia kekahi o kou ʻohana. Hiki i kēlā ʻike ke kōkua i nā kānaka e hoʻoholo, no ka laʻana, inā paha e loaʻa nā keiki.

Āhea e pono ai i kaʻu keiki ke ʻike i ke kauka?

Hiki ke loli nā hōʻailona o ka maʻi Joubert i ke ola o kāu keiki. No laila, he mea nui e lawe i kāu keiki no nā hoʻokolohua makahiki . Hiki i ke kauka ke nānā i kēia mau mea:

• Ka ulu ʻana a me ka hoʻomohala ʻana o ke keiki.
• ʻIke maka.
• Hana o ke akepaʻa a me nā puʻupaʻa.

E hana ʻia nā hoʻokolohua neurological a me nā hoʻokolohua ulu i kēlā me kēia manawa i kāu keiki.Pono paha ʻoe e loaʻa i ka mālama kūikawā e mālama i nā pilikia maka, nā maʻi puʻupaʻa, a i ʻole nā ​​maʻi akepaʻa.

Pehea lā wau e mālama ai iaʻu iho a me koʻu ʻohana?

Hiki i ka maʻi Joubert ke hana i kahi ʻokoʻa nui i ke ola ʻohana. Hiki ke lilo i mea kaumaha loa no nā mea a pau e aloha a mālama ana i kahi keiki me kēia maʻi. Inā he keiki kāu me ka maʻi Joubert, hiki i kēia mau manaʻo ke kōkua:

• Nā hui kākoʻo: He maʻi laha ʻole ka maʻi Joubert. Manaʻo paha ʻoe ʻo kou ʻohana wale nō ke kū nei i kēia mau pilikia. Ma ke komo ʻana i kahi hui kākoʻo, hiki iā ʻoe ke hoʻopili me nā mākua ʻē aʻe, nā mea mālama, a me nā ʻohana e kū nei i nā pilikia like.
• ʻŌlelo Aʻo: ʻO ke kamaʻilio ʻana me ke kauka psychiatrist a i ʻole kekahi loea olakino noʻonoʻo hiki ke kōkua iā ʻoe a me kou ʻohana e hoʻokele i ke kaumaha, ka hopohopo, a me nā manaʻo ʻē aʻe e hele mai me kēia.
• E Hana: Hoʻokumu ʻia ka maʻi Joubert e nā mea ma waho o kou mana, no laila e manaʻo paha ʻoe he kōkua ʻole. Inā pēlā, e noʻonoʻo e hana pū me nā hui e kākoʻo ana i nā papahana a me nā noiʻi e like me kēia.

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

He nui paha kāu mau nīnau e pili ana i nā pono o kāu keiki i kēia manawa a me ka wā e hiki mai ana. Eia kekahi mau manaʻo:

• He aha ke ʻano o ke kīnā e pono ai kākou e manaʻo?
• He aha ke ʻano o nā loea e pono ai mākou e ʻike?
• ʻEhia pinepine mākou e hui ai me lākou?
• E pono anei kaʻu keiki i ke ʻoki kino?
• Pehea lā ke ola o kā mākou keiki?
• Pono anei nā lālā ʻē aʻe o ka ʻohana e hana i ka hoʻāʻo genetic?

Hiki ke lilo i mea hoʻohoka nui ka ʻike ʻana ua loaʻa i kāu keiki ka maʻi Joubert. He maʻi laha ʻole ia, no laila ʻaʻole paha ʻoe i ʻike nui e pili ana i ia mea. Manaʻo paha ʻoe ua hōʻea koke ʻoe i kahi ʻāina ʻē a nalowale me ka ʻole o ka palapala ʻāina a i ʻole ke panana e ʻimi ai i kou ala.

Ua maopopo i nā kauka o kāu keiki he nui kāu mau nīnau a me nā hopohopo i loko o kēia huakaʻi kamaʻāina ʻole. Mai kānalua e noi i ka ʻike a me ke kōkua. No ka laʻana, hiki i ka maʻi Joubert ke hana i nā pilikia olakino he nui me nā hōʻailona like ʻole. Eia kekahi, hiki ke kū mai nā pilikia hou i ka wā e ulu ana kāu keiki.

Pono nā keiki he nui me kēia maʻi i ka mālama olakino a me ke kākoʻo no ke ola holoʻokoʻa. E hele mai ana ke kime lapaʻau o kāu keiki e kākoʻo iā ʻoe a me kāu keiki ma kēia ala maʻa ʻole.

Leka Lawe-Home

He maʻi paʻakikī ʻo Joubert syndrome, akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi.

• E kiʻi i ka ʻike pololei: E noi i kāu hui lapaʻau no nā mea āpau āu e pono ai e ʻike.
• He mea nui ka nānā mau ʻana i ke olakino: E nānā mau i ka ulu ʻana a me ke olakino o kāu keiki.
• E nānā i nā ʻano hana lapaʻau:He kōkua nui nā mea e like me ka hoʻoikaika kino a me ka hoʻoikaika ʻōlelo i ka hoʻomohala ʻana i nā hiki o ke keiki.
• E noho ikaika: Ma ke ʻano he makua, he ikaika nui ka noho ikaika no kāu keiki. E ʻimi i ke aʻo ʻana inā pono.
• E hui pū me nā hui kākoʻo: E hoʻoikaika nā ʻike o haʻi iā ʻoe.

ʻOiai he paʻakikī kēia huakaʻi, me ke kākoʻo kūpono a me ka mālama ʻana, hiki iā ʻoe ke kōkua i kāu keiki e ola i ke ola maikaʻi loa.

ʻO ka maʻi Joubert, nā maʻi genetic, ka ulu ʻana o ka lolo, nā maʻi pediatric, hypotonia, ataxia, hōʻailona niho molar