Loaʻa i kāu keiki kahi pilikia ulu lolo laha ʻole? (Miller-Dieker Syndrome)

I kēia lā, e kamaʻilio mākou e pili ana i kahi kumuhana kakaʻikahi a koʻikoʻi hoʻi no nā mākua. He maʻi kēia i kapa ʻia ʻo Miller-Dieker Syndrome. He maʻi genetic kēia e hoʻopilikia i ka ulu ʻana o ka lolo o kāu pēpē. ʻAʻole paha ʻoe i lohe i kēia inoa ma mua, akā ʻo ka ʻike ʻana i kēia mau maʻi he mea nui loa ia, ʻoiai no nā mākua hou.

He aha ka Miller-Dieker Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka Miller-Decker syndrome kahi maʻi genetic kakaikahi kahi e laumania ai ka ʻaoʻao waho o ka lolo o kāu keiki, i kapa ʻia ʻo ka cerebral cortex . ʻO ka maʻamau, i loko o ka lolo olakino, he nui nā pelu paʻakikī, nā wrinkles a me nā grooves o kēia ʻāpana. Ua like ia me ka walnut. Akā i nā keiki me kēia maʻi, ʻaʻole i hana pono ʻia kēlā mau pelu a me nā grooves.

Hiki i ke keiki me kēia maʻi ke hōʻike i kekahi mau hōʻailona kino i ka wā hānau. A i ʻole, hoʻomaka nā pilikia ulu koʻikoʻi a me nā pilikia neurological ma kahi o 6 mau mahina o ka makahiki. ʻO ka hapa pinepine, ua hana ʻia kēia e kahi loli maʻamau i nā chromosomes. Eia nō naʻe, i kekahi mau hihia, hiki ke hana ʻia kēia maʻi e kahi hoʻololi gene i hoʻoilina ʻia mai kahi makua.

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Miller-Decker syndrome. He maʻi ia e hoʻopau ana i ke ola, me ka hapa nui o nā keiki e make ana ma mua o 2 mau makahiki.

Ua wehewehe mua ʻia kēia ʻano maʻi i nā makahiki 1960 e nā kauka ʻelua, ʻo James Q. Miller lāua ʻo H. Dieker. ʻO ia ke kumu i kapa ʻia ai ʻo "Miller-Dieker syndrome."

He aha nā inoa ʻē aʻe no kēia?

Hiki i kāu kauka ke hoʻohana i ka inoa lapaʻau ʻo lissencephaly no ka maʻi Miller-Decker. ʻO ke ʻano o Lissencephaly ʻo ia hoʻi "lolo laumania." Hiki paha iā ʻoe ke lohe i kēia mau inoa:

• ʻO ka maʻi lissencephaly maʻamau
• MDS
• ʻO ka maʻi Miller-Dieker lissencephaly

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka Miller-Decker syndrome. Hoʻopilikia ia i hoʻokahi i loko o 100,000 mau pēpē hānau hou. ʻO ke ʻano kēia, ʻoiai ma Sri Lanka, he mea laha ʻole ka loaʻa ʻana o kahi keiki me kēia maʻi.

He aha ke kumu o kēia?

Aia i nā keiki me ka Miller-Decker syndrome kahi hapa o ka chromosome 17 e nalowale ana.Aia. ʻO ia hoʻi, ua nalowale lākou i hoʻokahi a ʻoi aku paha mau genes. E noʻonoʻo e like me he mau puke kuhikuhi liʻiliʻi ko kākou i loko o ko kākou kino, a mākou e kapa nei he chromosomes. Aia i loko o kēia mau chromosomes nā genes, ʻo ia nā code e kaohi ana i nā mea āpau i loko o ko kākou kino. No laila, ʻo kēia nalowale o nā genes e hana pinepine ʻia me ka ulia pōpilikia, ʻo ia hoʻi, me ke kumu ʻole. Hiki ke hana ʻia kēia nalowale o nā genes i loko o ka sperm, i loko o ka hua manu, a i ʻole i ka wā o ka ulu ʻana o ka pēpē ma hope o ka hāpai ʻana i loko o ka ʻōpū.

I loko o nā ʻohana he nui, i ka wā e hānau ʻia ai kahi keiki me kēia maʻi, ʻaʻohe mea o ka ʻohana i loaʻa i ka maʻi ma mua. ʻO ia hoʻi, ʻaʻohe moʻolelo ʻohana.

Eia nō naʻe, i kekahi manawa, ma kahi o hoʻokahi o 10 mau ʻohana , loaʻa i kekahi o nā mākua kahi gene i hoʻololi iki ʻia ma ka chromosome 17, ʻo ia hoʻi ua hoʻonohonoho ʻia ma ke ʻano hewa. Ua kapa nā kauka i kēia he translocation kaulike . No ka mea, aia nā genes āpau ma kēia chromosome, ʻo ia hoʻi, ʻaʻohe genes i nalowale, ʻaʻole e hōʻike ka makuahine a me ka makuakāne i nā hōʻailona o ka Miller-Decker syndrome. Eia nō naʻe, i ka wā e loaʻa ai i kahi makua me kēia ʻano 'translocation' kahi keiki, hiki i ke keiki ke nalowale i nā ʻāpana o ka gene ma muli o ka hoʻonohonoho ʻole.

Hoʻopilikia kēia hemahema o ka gene i ke ʻano o ka ulu ʻana o ka lolo i ka wā e noho ana ke pēpē i loko o ka ʻōpū. E like me ka mea i ʻōlelo ʻia ma mua, ʻaʻohe o ka ʻaoʻao waho o ka lolo (ka cerebral cortex) i nā pelu a me nā ʻauwaha kūpono, a lilo kēlā ʻāpana i laumania.

He aha nā hōʻailona?

Hoʻopilikia ka maʻi Miller-Decker i ka ulu kino a me ka noʻonoʻo o ke keiki. ʻO ke koʻikoʻi o nā hōʻailona e pili ana i ka ʻōpiopio o ka lolo o ke keiki.

Hiki i ke keiki ke loaʻa nā hōʻailona e like me:

• Paʻakikī ka hanu ʻana
• Ka lohi o ka ulu ʻana - ʻO ke ʻano kēia o ka lohi ʻana i ka hana ʻana i nā mea kūpono no ka makahiki o kekahi.
• Ka paʻakikī i ka moni ʻana (dysphagia)
• Nā pilikia hānai
• Ke kani haʻahaʻa o nā ʻiʻo (hypotonia) - ʻO ia hoʻi, ua nāwaliwali a palupalu nā ʻiʻo o ke kino.
• ʻOʻoleʻa o nā ʻiʻo a i ʻole ka spasticity
• ʻŪhū - He kūlana e hoʻoulu ai i nā hahau pinepine.
• Ka ulu kino lohi

Nā hiʻohiʻona i ʻike ʻia ma ke ʻano o ke keiki

ʻO nā keiki me ka Miller-Decker syndrome he mau poʻo liʻiliʻi ma mua o ka maʻamau. Ua kapa ʻia kēia he microcephaly . Loaʻa paha iā lākou kekahi mau hiʻohiʻona helehelena ʻokoʻa:

• Ua hoʻohaʻahaʻa ʻia nā pepeiao ma mua o ka maʻamau a he ʻano ʻē paha ko lākou.
• Ke puka mai nei ka lae i mua.
• He ʻuʻuku ka ihu a hiki ke hoʻohuli ʻia i luna.
• Me he mea lā ua piholo ka ʻaoʻao waena o ka maka (midface hypoplasia) .
• Hiki ke ākea aʻe ka lehelehe luna, a hiki ke liʻiliʻi aʻe ka ʻāwae lalo.

He aha nā pilikia e hiki mai ana?

Hiki i kekahi mau keiki ke loaʻa nā pilikia ʻē aʻe i ka wā hānau. Eia kekahi laʻana:

• Nā maʻi puʻuwai hānau - nā maʻi puʻuwai i loaʻa i ka wā hānau.
• Hiki ke kekee a kūlou paha nā manamana lima (clinodactyly) .
• Nā pilikia puʻupaʻa.
• Aia paha kekahi o nā ʻōpū o ka ʻōpū ma waho o ka ʻōpū (omphalocele) .

Pehea e ʻike ʻia ai kēia maʻi?

ʻO kekahi mau hoʻokolohua i hana ʻia i ka wā hāpai, e like me ka ultrasound scan , hiki ke kōkua i kāu kauka e ʻike inā he ulu ʻana o ka lolo o kāu pēpē a i ʻole nā ​​​​hōʻailona ʻē aʻe o ka syndrome. Inā kānalua ʻia kēia, hiki i kāu kauka ke ʻōlelo aku i kahi amniocentesis genetic a i ʻole chorionic villus sampling (CVS) . Hiki i kēia mau hoʻokolohua ke hōʻoia inā loaʻa i kāu pēpē nā loli genetic e pili ana me ka Miller-Decker syndrome.

Ma hope o ka hānau ʻana o ke pēpē, e ʻike paha ʻoe a i ʻole kāu kauka i kekahi o nā hiʻohiʻona helehelena kikoʻī i ʻōlelo ʻia ma mua. A i ʻole, e hoʻomaka paha ke pēpē e loaʻa i nā ʻōhū . ʻO ka pinepine, ʻaʻole hala kēia mau pēpē i nā pae hoʻomohala o ke keiki o ʻekolu a ʻelima mau mahina - e like me ke noho ʻana i luna a me ka ʻōwili ʻana.

He aha nā lāʻau lapaʻau no kēia?

E like me kā mākou i ʻōlelo ai ma mua, ʻo ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi Miller-Decker . He kūlana ola kēia. ʻO ke kumu nui o ka lāʻau lapaʻau ʻana, ʻo ia ke kāohi ʻana i nā hōʻailona e like me ka hopu ʻana a me ka hoʻoluʻolu ʻana i ke keiki. Ma muli o ka paʻakikī o ka moni ʻana, pono paha kekahi mau keiki e hānai ʻia ma o kahi paipu (tube feeding / enteral nutrition) .

He aha kāu e hana ai inā loaʻa i kāu keiki kēia maʻi?

ʻO ka mālama ʻana a me ka hānai ʻana i kahi keiki me kahi maʻi koʻikoʻi e hoʻopau ana i ke ola e like me kēia he hana paʻakikī loa ia . Hiki iā ʻoe ke ʻike i ka nui o ka hopohopo, ke kaumaha, a me ke kaumaha . No laila, he mea nui loa ka mālama ʻana i kou olakino kino a me ka noʻonoʻo i ka wā e mālama ana i kāu keiki.

Hiki iā ʻoe ke loaʻa ke kōkua mai nā mea like:

• E ʻimi i nā lawelawe kākoʻo e pono ai kāu keiki, e like me nā lawelawe hoʻoponopono hou, ka mālama ola kino ma ka home, a me nā mea kōkua.
• E hui pū me kahi hui kākoʻo me nā mākua o nā keiki e like me kēia. E kōkua ia iā ʻoe e emi iho ka noho mehameha a hiki iā ʻoe ke aʻo mai nā ʻike o haʻi.
• E aʻo e pili ana i ke kūlana o kāu keiki a me nā hōʻailona kikoʻī iā ia.
• E hoʻokaʻawale i ka manawa nou iho . E hoʻomaha iki, e hana i kahi mea āu e makemake ai.
• E ʻimi i nā ala olakino e hōʻemi ai i ke kaumaha. Hiki ke like me ka hele wāwae ʻana me kahi hoaaloha a i ʻole ka hoʻomaka ʻana i kahi hana leʻaleʻa hou.
• E kamaʻilio me kekahi loea olakino noʻonoʻo . E hāʻawi ia iā ʻoe i ka nui o ka hōʻoluʻolu.
• Inā pono, e hoʻohana i nā lāʻau lapaʻau e like me nā antidepressants e like me ka ʻōlelo a ke kauka.

Hiki ke pale ʻia ka Miller-Decker syndrome?

ʻO ka mea kupanaha, ʻo ia hoʻi, ʻaʻohe ala e pale aku ai i ka maʻi Miller-Decker, ka mea e kū koke mai me ke kumu ʻole.

Eia nō naʻe, inā he keiki kāu me kēia ʻano, hiki ke hana ʻia kahi hoʻāʻo genetic e ʻike ai inā loaʻa iā ʻoe a i ʻole kāu hoa ka 'balanced translocation' i ʻōlelo mua ʻia ma ka chromosome 17. Ke loaʻa i kahi makua me ia 'translocation' kekahi keiki ʻē aʻe, aia ma kahi o hoʻokahi i loko o ʻekolu manawa e loaʻa pū ai i kēlā keiki ka Miller-Decker syndrome.

No laila, he mea nui loa e hui pū ʻoe me kāu hoa me kekahi kākā'ōlelo genetic e kamaʻilio e pili ana i kēia pilikia a me kāu mau koho.

He aha ka wā e hiki mai ana o kahi keiki me kēia maʻi?

He mea kaumaha maoli kēia ke ʻōlelo aku. ʻO ka lōʻihi o ke ola o nā keiki me ka Miller-Decker syndrome he pōkole loa ia. He nui nā keiki e loaʻa i nā hopu koʻikoʻi e hiki ke hoʻoweliweli i ke ola. A i ʻole, no ka nāwaliwali o nā ʻiʻo puʻu, hiki ke loaʻa nā kūlana e like me ka 'aspiration pneumonia' , kahi e komo ai ka meaʻai a me ka mea inu i loko o nā māmā. He mea weliweli loa kēia.

Make ka hapa nui o nā keiki i ka piha ʻana o 2 mau makahiki. Hiki i kekahi mau keiki ke ola a hiki i 10 mau makahiki. Eia nō naʻe, he mea kakaikahi loa ka ola ʻana a hiki i ko lākou wā ʻōpio.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa i kāu keiki kekahi o kēia mau hōʻailona, ​​e ʻike koke i ke kauka:

• Nā lohi o ka hoʻomohala ʻana - inā ʻaʻole ʻoe e hana i nā mea kūpono no kou mau makahiki.
• Inā pilikia ʻoe i ka hanu ʻana, ka ʻai ʻana, a i ʻole ke ale ʻana.
• Inā loaʻa pinepine iā ʻoe nā ʻōhū .
• Inā lohi ka ulu ʻana o ke kino.
• Inā ʻike ʻoe i nā hiʻohiʻona helehelena ʻē aʻe a i ʻole nā ​​​​​​ʻano kino .

He aha nā nīnau koʻikoʻi e nīnau aku ai i ke kauka?

Ke ʻike ʻoe ua loaʻa i kāu keiki ka Miller-Deeker syndrome, hiki iā ʻoe ke nīnau i ke kauka i nā nīnau e like me:

• He aha ke kumu o ka loaʻa ʻana o ka Miller-Decker syndrome i kaʻu keiki?
• He aha nā lāʻau lapaʻau e hiki ke kōkua i kaʻu keiki?
• He aha kaʻu e hana ai e kōkua i kaʻu keiki ma ka home?
• Pono anei māua me kaʻu hoa e hana i ka hoʻāʻo genetic?
• He aha nā pilikia ʻē aʻe e pono iaʻu e hopohopo?

ʻO ka hope loa, e hoʻomanaʻo

Ke loaʻa i kāu keiki kahi maʻi koʻikoʻi e like me kēia, he mea nui e ʻimi i ke kōkua mai nā loea a me nā loea mālama ola i ʻike i ka maʻi. Hiki i kāu kauka ke kōkua i ka hoʻokele ʻana i nā hōʻailona o kāu keiki a kōkua iā lākou e ʻoluʻolu e like me ka hiki. Hiki iā lākou ke hoʻopili iā ʻoe me nā kumuwaiwai a me nā lawelawe kākoʻo e hiki ke kōkua i kou ʻohana i kēia manawa paʻakikī.

E like me ka hiki, e hauʻoli i ka manawa e hui pū ai kou ʻohana. E aloha a kākoʻo kekahi i kekahi. E ho'āʻo e hōʻiliʻili i nā hoʻomanaʻo nani āu e poina ʻole ai. Mai ho'āʻo e hele wale ma kēia huakaʻi, he nui ka poʻe e hiki ke kōkua iā ʻoe.

ʻO ka Miller-Dieker Syndrome, lissencephaly, ka ulu ʻana o ka lolo, nā maʻi genetic, chromosome 17, ke olakino o nā keiki, nā lohi o ka ulu ʻana