Loaʻa i kāu keiki kēia mau hōʻailona? E kamaʻilio kākou e pili ana i ka Phelan-McDermid Syndrome

Ua lohe paha ʻoe i ka Phelan-McDermid Syndrome? ʻAʻole paha ʻoe i lohe i kēia inoa, no ka mea, he maʻi genetic kakaikahi ia. Hiki i kēia maʻi ke hana i nā pilikia olakino like ʻole, nā lohi o ka ulu ʻana o ka noʻonoʻo, a me nā loli o ke ʻano, ʻoiai hoʻi i nā keiki ʻōpio. No laila, i kēia lā e kamaʻilio mākou e pili ana i ia mea ma ke ʻano maʻalahi e hiki ai iā ʻoe ke hoʻomaopopo. Mai hopohopo, he mea nui loa ka ʻike ʻana i kēia ʻike.

He aha ka Phelan-McDermid Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Phelan-McDermid kahi maʻi genetic e hiki ke hoʻoulu i nā ʻano pilikia like ʻole i ke kino o ke keiki, ka naʻauao, a me ke ʻano. Eia kekahi laʻana:

• Paʻakikī i ka ʻai ʻana.
• Ka nāwaliwali o nā ʻiʻo.
• Ka lohi o ka ʻōlelo a me nā hanana ulu ʻē aʻe.
• Loaʻa i kekahi mau keiki nā maʻi e like me ka Autism Spectrum Disorder.
• I kekahi manawa hiki ke kū mai nā maʻi e like me ka epilepsy.

Aia kekahi inoa ʻē aʻe no kēia, ʻo ia hoʻi ka ``22q13.3 deletion syndrome.'' ʻOiai paha he mea paʻakikī iki ka inoa, e kamaʻilio pū kākou e pili ana i kēlā.

Pehea ka laha ʻole o kēia maʻi?

ʻO kaʻoiaʻiʻo, he mea kakaikahi loa kēia maʻi i kapa ʻia ʻo Phelan-McDermid syndrome. Wahi a nā kānaka ʻepekema, hoʻopilikia ia ma waena o ʻelua a me ʻumi mau keiki no hoʻokahi haneli tausani. Eia nō naʻe, no ka mea he paʻakikī iki ke ʻike ʻana, hiki paha i nā keiki he nui aʻe i loaʻa i kēia maʻi ma mua o ka mea i hōʻike ʻia. Ma waena wale nō o 2200 a me 2500 mau keiki i ʻike ʻia ma ka honua holoʻokoʻa. No laila hiki iā ʻoe ke noʻonoʻo i ka kakaikahi o kēia.

He aha ka pilina ma waena o ka Phelan-McDermid syndrome a me ka autism?

He pilikia kēia i loaʻa i nā poʻe he nui. Ua ʻike ʻia he nui nā keiki me ka Phelan-McDermid syndrome he maʻi autism spectrum . Manaʻo nā kānaka ʻepekema aia ma kahi o 1% o nā keiki me ka autism e loaʻa pū kekahi iā Phelan-McDermid syndrome. ʻO ke ʻano kēia he pilina ma waena o nā mea ʻelua.

No ke aha i kū mai ai ka maʻi Phelan-McDermid?

ʻAe, e nānā kākou i ke kumu o kēia. Hana ʻia kēia e ka loli ʻana o nā chromosomes . ʻO nā chromosomes nā mea liʻiliʻi i loko o kā mākou mau cell. Aia i loko o kēia mau mea ko mākou mau genes. Ua like nā genes me kahi hoʻonohonoho o nā kuhikuhi e hoʻoholo ai i nā mea āpau mai ke ʻano o ka hana ʻana o ko mākou kino, a hiki i ko mākou kiʻekiʻe, ke kala o nā maka, a me nā maʻi e loaʻa paha iā mākou.

ʻO ka maʻamau, loaʻa i kēlā me kēia cell kanaka he 23 mau pālua o nā chromosomes, no ka huina o 46 mau chromosomes. ʻO kahi keiki me ka Phelan-McDermid syndrome he ʻāpana liʻiliʻi o ka chromosome 22 i nalowale, a i ʻole "ua holoi ʻia." ʻO ia ke kumu i kapa ʻia ai ʻo '22q13.3 deletion syndrome.'

ʻO ka hapa nui o ka manawa, ʻaʻole i hoʻoilina ʻia kēia maʻi mai nā mākua mai. Hiki ke nalowale kēia ʻāpana chromosome i ka wā e hana ʻia ai kahi hua manu a i ʻole sperm cell, a i ʻole i ka wā e ulu ana kahi embryo. Eia nō naʻe, i kekahi mau hihia kakaikahi, hiki ke hoʻoilina ʻia mai kahi makua mai. I kēlā hihia, he 50% ka manawa kūpono o ka makuahine a makua paha me kēia maʻi e hoʻoilina i kā lāua keiki i ke kūlana.

He aha nā hōʻailona o kēia maʻi?

Hiki ke ʻokoʻa loa nā hōʻailona o ka maʻi Phelan-McDermid mai kēlā kanaka a kēia kanaka. He emi iki nā hōʻailona o kekahi poʻe, ʻoi aku ka nui o kekahi. Loaʻa kekahi mau hōʻailona i ka wā hānau, a ʻike ʻia kekahi i ka wā kamaliʻi a i ʻole ka wā kamaliʻi. Hiki i kēia mau hōʻailona ke kino, ke ʻano, ka noʻonoʻo, a i ʻole ka hui pū ʻana o kēia mau mea āpau.

Hiki i kāu keiki ke loaʻa nā hōʻailona penei:

• Nā lohi o ka ulu ʻana : Nā mea e like me ka ʻōwili ʻole ʻana, ka noho ʻole ʻana i luna, ka hele ʻole ʻana. E noʻonoʻo e pili ana i ia mea, hoʻomaka kekahi mau pēpē e ʻōwili i luna i ka 6 mahina, noho kekahi i luna i ka 9 mahina. Akā, ʻo ke keiki me kēia maʻi e lōʻihi iki paha ka manawa e hana ai i kēia mau mea.
• Hoʻonui i ka hoʻomanawanui ʻeha : ʻO ke ʻano kēia o ka emi ʻana o ka ʻeha ma mua o nā poʻe ʻē aʻe.
• Ka nāwaliwali o nā ʻiʻo (hypotonia) : Hiki i ke kino ke manaʻo he palupalu a palupalu hoʻi.
• Nā pilikia ʻōlelo : Ka lohi o ka ʻōlelo a i ʻole ka hiki ʻole ke ʻōlelo.
• Nā maʻi hiamoe : Paʻakikī i ka hiamoe ʻana, e like me ke ala pinepine ʻana.
• Ka hou ʻana ma mua o ka maʻamau : Hiki i kēia ke hoʻomehana koke i ke kino a maloʻo.
• Ka paʻakikī i ka ʻai ʻana a i ʻole ke ale ʻana .
• Nā pilikia o ka ʻōnaehana hoʻoheheʻe : Nausea pinepine, luaʻi, a me ka ʻeha puʻuwai (maʻi reflux gastroesophageal).

He nui ka poʻe me ka maʻi Phelan-McDermid i loaʻa i ka maʻi autism spectrum, no laila hiki iā lākou ke ʻike i nā hōʻailona ʻano e like me:

• He nāwaliwali ka nānā ʻana i nā maka .
• Ke makaʻu a me ka hopohopo i nā kūlana pili kanaka .
• Makemake i ka nau ʻana i nā mea ʻaʻole meaʻai (e like me nā mea pāʻani, nā lole).
• ʻOi aku ka maʻalahi o ka hoʻopā ʻana : Manaʻo ʻoluʻolu ʻole ke hoʻopā aku kekahi iā ʻoe.

Hiki ke ʻike ʻia kekahi mau hiʻohiʻona kūikawā i ke ʻano o ka poʻe me kēia maʻi:

• Nā maka i piholo.
• Ka lihilihi ʻana o ka maka (ptosis).
• Nā pepeiao nui a i ʻole e puka ana i mua.
• Me he mea lā ua hui pū ʻia nā manamana wāwae ʻelua a me ke kolu (syndactyly).
• Loaʻa nā lima a i ʻole nā ​​wāwae nui a ʻiʻo.
• Ua hoʻolōʻihi ʻia ke poʻo a he ololi ke ʻano.
• He ʻano ʻoi ke ʻauwae.
• Nā kui kuʻekuʻe liʻiliʻi a ʻano ʻē paha.

I kekahi manawa hele pū kēia maʻi me nā maʻi puʻuwai hānau a me nā pilikia puʻupaʻa.He mea kākaʻikahi loa, hiki i kēia mau keiki ke hoʻomohala i nā ʻeke piha wai (arachnoid cysts) i loko o ko lākou lolo. Hiki i kēia mau mea ke hoʻonui i ke kaomi i loko o ke poʻo, e hoʻoulu ai i ka hoʻomaha ʻole, ka uē ʻana, ke poʻo ʻeha, a me ka maʻi ʻepilepsy.

Pehea e ʻike ʻia ai kēia maʻi?

No ka mea, he maʻalahi nā hōʻailona o ka maʻi Phelan-McDermid i kekahi manawa, hiki ke paʻakikī ke ʻike. Pono paha kāu keiki e hana i kekahi mau hoʻokolohua ma mua o ka hāʻawi ʻia ʻana o kahi hōʻailona pololei. Hiki i ke kauka ke hana i nā mea e like me:

• Ka hoʻokolokolo kino ʻana o ke keiki.
• Ke nīnau nei e pili ana i ka mōʻaukala olakino o ke keiki e pili ana i nā hōʻailona a me nā lohi o ka ulu ʻana.
• E nīnau e pili ana i ka mōʻaukala olakino ʻohana e ʻike ai inā ua loaʻa i kekahi o ka ʻohana kēia maʻi.
• E noi i ka hoʻāʻo ʻana i ka genetic . ʻO ka maʻamau, pili kēia i ka lawe ʻana i kahi hāpana koko liʻiliʻi. Hiki ke hoʻohana ʻia kēia e ʻike inā ua nalowale ka ʻāpana chromosome i nīnau ʻia.

I nā hihia kakaikahi loa, ʻaʻole paha kēia kūlana i kumu ʻia e kahi chromosome i nalowale. Akā, hiki ke kumu ʻia e kahi loli i loko o kahi gene i kapa ʻia ʻo `SHANK3`. Inā ʻaʻole i loaʻa kahi holoi ʻana o ka chromosome, hiki i kāu kauka ke kuhikuhi i ka hoʻāʻo ʻana no kēia gene.

Inā hōʻoia nā hoʻokolohua i ke kūlana '22q13.3 deletion syndrome', hiki i ke kauka ke kuhikuhi i kekahi mau hoʻokolohua ʻē aʻe:

• Ka hoʻāʻo ʻana i ka genetics o nā mākua ʻelua : E ʻike inā he mea i hoʻoilina ʻia kēia a he mea hanana wale nō paha.
• ʻO kahi MRI (Magnetic Resonance Imaging) a i ʻole CT (Computed Tomography) scan o ka lolo o ke keiki: No ka ʻike ʻana inā he mau hōʻailona o kahi cyst arachnoid.
• ʻO ke ultrasound o nā puʻupaʻa : No ka nānā ʻana i nā hemahema o nā puʻupaʻa.
• Echocardiogram : No ka nānā ʻana i nā ʻano puʻuwai like ʻole.
• Hoʻāʻo lohe.
• He hoʻokolokolo kikoʻī o nā maka.
• He haʻawina hiamoe.

Aia kekahi lāʻau lapaʻau piha no kēia?

ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka maʻi Phelan-McDermid i kēia manawa . ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ke kāohi i nā hōʻailona o ke keiki, kōkua iā lākou e hana maikaʻi loa, a pale i nā pilikia e kū mai ana.

Hiki i ka hui mālama o kāu keiki ke hoʻokomo pū i nā ʻano loea like ʻole, e like me:

• Kauka Puʻuwai
• Kauka ʻōpū
• Kauka Nephrologist
• Kauka lapaʻau noʻonoʻo
• Luna Hoʻōla Hana: He kanaka e kōkua i nā kānaka e hana i nā hana o kēlā me kēia lā e like me ka ʻai ʻana a me ke kākau ʻana.
• ʻOrthopedic (loea iwi a me nā hono)
• Hoʻōla kino: Kekahi mea e kōkua ana i ka hoʻoikaika ʻana i nā ʻāpana kino i hoʻopilikia ʻia.
• Kauka ʻōlelo/ʻōlelo
• Kauka lapaʻau endocrine

E hoʻomanaʻo, ke hana pū nei kēia mau loea a pau e hāʻawi i ka mālama maikaʻi loa no kāu keiki.

Hiki ke pale ʻia kēia kūlana?

Ke ʻike ʻia kekahi me ke ʻano, ʻaʻohe ala e hoʻoponopono ai i nā loli genetic i kēia manawa. Eia nō naʻe, i ka hihia kakaikahi i loaʻa i kekahi o nā mākua ke ʻano, aia kekahi mau manawa e hiki ai ke hoʻohana ʻia ka ʻenehana IVF a i ʻole ka hoʻāʻo prenatal e pale aku ai i ka hiki ʻana mai i nā keiki e hiki mai ana.

Inā loaʻa iā ʻoe a i ʻole kekahi o kou ʻohana kēia maʻi, he mea nui loa ia e kamaʻilio me ke kauka a i ʻole ke kākāʻōlelo genetic . Hiki iā lākou ke wehewehe iā ʻoe i ka nui o ka hiki ke hoʻoilina i kāu mau keiki i kēia maʻi.

Pehea lā ka wā e hiki mai ana inā loaʻa kēia maʻi i kaʻu keiki?

ʻAʻole like kēia no kēlā me kēia keiki. Aia ia i ke ʻano o ke kīnā o ke keiki a me kona koʻikoʻi.

ʻAʻole pinepine ka hopena o kēia maʻi i mea e hoʻoweliweli ai i ke ola. Eia nō naʻe, nui ka poʻe me kēia maʻi e pono ai ka mālama olakino no ke ola holoʻokoʻa a me ke kākoʻo kaiāulu mau. No laila, he mea nui loa ke aloha, ka hoʻomaopopo ʻana, a me ke kākoʻo o nā ʻohana i kēia mau keiki.

Pehea ʻoe e mālama ai i kahi keiki e like me kēia?

He mea nui e lawe i kāu keiki i kēlā me kēia hālāwai kūikawā e hoʻomaikaʻi i ko lākou mau hiki. No ka mea, ua emi paha ka hiki o kāu keiki ke hou, e makaʻala i kēia mau mea:

• E pale i ka wela nui .
• E hāʻawi i ke keiki i ka wai he nui e inu ai (e pale iā ia mai ka maloʻo ʻana).
• E pale mai ka lā pololei .

No ka mea, he nui ka poʻe me ka maʻi Phelan-McDermid i loaʻa ka hoʻomanawanui kiʻekiʻe i ka ʻeha a me ka paʻakikī i ka hōʻike ʻana i ko lākou ʻehaʻeha, e makaʻala i nā hōʻailona e hōʻike ana i ka ʻeha o kāu keiki . Inā ʻike ʻoe i kekahi o kēia mau mea, e kelepona i kāu kauka. Hiki iā lākou ke kōkua iā ʻoe e hoʻoholo inā ʻeha ka ʻōpū o kāu keiki a i ʻole kekahi mea ʻē aʻe. Hiki i nā hōʻailona o ka ʻeha ke komo pū me:

• ʻOi aku ka mālie ma mua o ka maʻamau, ʻaʻole i launa pū.
• Ka hanu ʻana me ka wikiwiki ma mua o ka maʻamau.
• Ka uē ʻana a i ʻole ka hoʻomaha ʻole ma mua o ka mea maʻamau.
• E paʻa pono ana i kahi moe a i ʻole nā ​​​​mea e kokoke ana.
• E mālama i ke kino, nā lima, a me nā wāwae i ʻoʻoleʻa a neʻe ʻole.
• Ka helehelena o ka ʻeha (e.g., ka pani ʻana i nā maka me ka paʻa, ka ʻūmiʻi ʻana i nā lehelehe).
• Ke ʻuwē ʻana a me ka hoʻōho ʻana.

He aha hou aʻe kāu e nīnau ai i ke kauka?

Inā loaʻa i kāu keiki ka Phelan-McDermid syndrome, hiki iā ʻoe ke nīnau i ke kauka i kēia mau nīnau:

• Ua hoʻoilina ʻia anei kēia holoi ʻana o nā chromosome, a i ʻole ua hana wale ʻia paha?
• He mau pilikia anei ko kaʻu keiki e like me ka puʻuwai, nā puʻupaʻa, a i ʻole nā ​​cysts o ka lolo?
• Pehea ka nui o ka hopena o ke kīnā noʻonoʻo o kaʻu keiki iā lākou?
• He aha ke ʻano o nā kauka lapaʻau e pono ai kaʻu keiki e ʻike? ʻEhia pinepine?
• Aia kekahi mau hui kākoʻo e hiki ke kōkua iā mākou e ola me kēia kūlana?
• Ke paipai nei ʻoe i ke aʻoaʻo genetic?
• Pono anei ke koena o ko mākou ʻohana e hana i ka hoʻāʻo hoʻoilina?

ʻO ka mea hope loa, pono wau e ʻōlelo ...

He maʻi hoʻoilina laha ʻole ka Phelan-McDermid Syndrome. Hiki iā ia ke hoʻopaneʻe i ka ʻōlelo a me ka ulu ʻana, a me ka maʻi autism spectrum. Inā ua ʻike ʻia kekahi o kou ʻohana me kēia chromosomal deletion syndrome, mai hopohopo . Hiki i kahi hui o nā loea ke kōkua iā ʻoe a me kāu keiki. ʻO nā pahuhopu nui ma aneʻi ka hoʻomaikaʻi ʻana i ka hana a kāu keiki, pale i nā pilikia hiki, a hāʻawi i ka ʻōlelo aʻoaʻo hoʻoilina inā pono. ʻAʻole ʻoe hoʻokahi , a he nui ka poʻe e hiki ke kōkua iā ʻoe ma kēia huakaʻi.

ʻO ka Phelan-McDermid Syndrome, Phelan-McDermid Syndrome, Maʻi Genetic, Chromosome, Autism, Lohi o ka Hoʻomohala ʻana, SHANK3