He nīnau a hopohopo paha kāu e pili ana i ka ulu ʻana a i ʻole ke ʻano o kāu keiki liʻiliʻi? I kekahi manawa makaʻu mākou i ka wā e ʻōlelo ai nā kauka i nā huaʻōlelo hou a me nā maʻi, ʻeā? ʻĀ, i kēia lā e kamaʻilio mākou e pili ana i kahi maʻi genetic laha ʻole āu i lohe ʻole ai, akā he mea nui loa ia e ʻike. Ua kapa ʻia ʻo Pitt-Hopkins Syndrome (PTHS).
He aha maoli ka Pitt-Hopkins Syndrome (PTHS)?
I ka ʻōlelo maʻalahi, he
ʻano hoʻoilina kēia. ʻO ia hoʻi, ua hoʻololi ʻia e ka loli o nā genes i loko o ko mākou kino, e like me kahi hoʻonohonoho o nā kuhikuhi liʻiliʻi e kāohi ana i nā mea āpau i loko o ko mākou kino. Hoʻopilikia nui kēia
i ka ulu ʻana o ka lolo a me ka ʻōnaehana nerve o ke keiki . No laila, ma muli o kēia, hiki ke lohi ka ulu ʻana o ke keiki, hiki ke ʻike ʻia nā kīnā noʻonoʻo. Eia kekahi, hiki i kēia mau keiki ke loaʻa
kekahi mau loli i ke ʻano o ko lākou mau helehelena . Pono paha lākou e kū i nā kūlana e like me
nā pilikia hanu a me nā hopu ʻana .
He ʻāpana anei kēia o ke kūlana autism?
Manaʻo paha ka poʻe he nui he ʻano like kēia me ka maʻi autism spectrum.
ʻAʻole ʻo ka Pitt-Hopkins syndrome ka autism maoli . Eia nō naʻe, hiki i nā keiki me kēia ʻano ke hōʻike
i kekahi o nā hōʻailona like me nā keiki me ka autism. No laila, i kekahi manawa hiki i nā mākua a me nā kauka ke huikau iki. Akā pono mākou e hoʻomaopopo he ʻelua mau ʻano like ʻole kēia.
ʻO wai ka mea i loaʻa i kēia maʻi? Pehea ka maʻamau?
Hiki i ka Pitt-Hopkins Syndrome (PTHS) ke hoʻopilikia i kekahi . Hoʻomaka pinepine nā hōʻailona
i ka wā kamaliʻi . Eia nō naʻe, ʻo ka mea nui e pono ai ʻoe e ʻike,
he maʻi genetic laha ʻole kēia. E noʻonoʻo wale,
ma kahi o 500 mau kānaka ma ka honua holoʻokoʻa i ʻike ʻia me kēia maʻi. No laila, he maʻi laha ʻole kēia.
Pehea lā e pili ai kēia i kaʻu keiki?
Ma waho aʻe o nā hōʻailona kino, hiki i kahi keiki me kēia maʻi ke loaʻa i kekahi mau hopena ʻē aʻe. ʻO ka mea nui:
- Nā lohi o ka ulu ʻana: Hiki i nā keiki ke lohi i ka hana ʻana i nā mea kūpono i ko lākou mau makahiki, e like me ka ʻōwili ʻana, ka noho ʻana i luna, a me ka hele wāwae ʻana. Manaʻo ʻoe ua lohi kāu pēpē i ka minoʻaka, hana i nā leo, a ʻike paha i kona makuahine e like me nā keiki ʻē aʻe? Ua kapa ʻia kēia he mau lohi o ka ulu ʻana.
- ʻAʻole hiki ke ʻōlelo a i ʻole ka hoʻomohala ʻōlelo palena ʻia: ʻAʻole hiki i kekahi mau keiki ke ʻōlelo i nā huaʻōlelo, a he kakaikahi paha nā huaʻōlelo. Hiki paha iā lākou ke hana i nā leo wale nō.
- Nā hemahema noʻonoʻo: Aia paha kekahi hemahema i ka hiki ke hoʻomaopopo a aʻo. Me he mea lā he lōʻihi ka manawa e aʻo ai i kahi mea hou.
- Nā mākau pilikanaka palena: Aia paha ka emi ʻana o ka hoihoi a me ka hiki ke pāʻani a kamaʻilio me nā poʻe ʻē aʻe. Aia paha ka makemake e noho hoʻokahi.
He aha nā hōʻailona o ka Pitt-Hopkins syndrome (PTHS)?
E like me ka mea i ʻōlelo ʻia ma mua, hoʻopilikia kēia ʻano i ka ulu ʻana o ke keiki.
ʻO nā hōʻailona nui ka lohi o ke aʻo ʻana e hele ,
ka paʻakikī me ka ʻōlelo a me nā mākau kamaʻilio . Eia kekahi, hiki i nā keiki me ka Pitt-Hopkins syndrome ke loaʻa
nā loli kikoʻī i ke ʻano o ko lākou helehelena . ʻO ke ʻano kēia he ʻokoʻa iki paha kekahi o ko lākou mau hiʻohiʻona helehelena mai nā keiki ʻē aʻe. No ka laʻana, he waha ākea ko lākou, nā lehelehe momona, nā puka ihu i luna, a me nā maka hohonu. Loaʻa paha iā lākou:
- Ka paʻa ʻana o ka ʻōpū : Hiki ke loaʻa pinepine ka paʻa ʻana o ka ʻōpū . E makaʻala i kēia inā manaʻo pinepine kāu keiki he paʻakikī iā lākou ke hele i loko o ka ʻōpū.
- ʻEpilepsy : ʻO ke ʻano kēia o ka loaʻa ʻana o kahi hopu . Hiki iā ia ke hana i nā haʻalulu koke a me ka nalowale o ka ʻike.
- Ka nāwaliwali o nā ʻiʻo (Hypotonia): Ua emi ke kani o nā ʻiʻo , a manaʻo paha ke kino ua make. Manaʻo paha ke kino o ke keiki he palupalu loa.
- Loaʻa ke poʻo liʻiliʻi (Microcephaly): ʻOi aku ka liʻiliʻi o ke poʻo ma mua o ka maʻamau no kona mau makahiki.
- Myopia (ʻike kokoke): ʻOiai hiki iā ʻoe ke ʻike i nā mea kokoke, ʻaʻole paha ʻoe e ʻike maopopo i nā mea mamao.
- Strabismus (maka keʻa): ʻAʻole hiki i nā maka ke kuhikuhi i ka ʻaoʻao like, a hiki i kekahi maka ke huli i loko a i waho paha.
- Nā pilikia hanu a me nā pilikia hanu: I kekahi manawa loaʻa paha iā ʻoe nā manawa paʻa hanu a i ʻole ka hanu wikiwiki (hyperventilation) . Hiki ke hana kēia i kou wā hiamoe a ala paha.
He aha ke kumu o kēia kūlana?
ʻO ke kumu nui o kēia he
mutation i loko o ka gene TCF4.. Hoʻomalu kēia gene TCF4 i nā protein e pono ai kou lolo a me ka ʻōnaehana nerve e ulu. No laila, inā he kīnā i loko o kēia gene, hoʻopilikia ia i ka ulu ʻana o ke keiki. I kēia manawa ke noʻonoʻo nei paha ʻoe inā he mea kēia mai nā mākua mai. Eia pehea,
- I kekahi manawa, inā loaʻa i kekahi o nā mākua kēia hoʻololi ʻana o ka gene , aia he 50% ka manawa e loaʻa ai i ke keiki kēia ʻano. Ua kapa ʻia kēia he ʻano autosomal dominant .
- Eia nō naʻe, inā ʻaʻole i loaʻa i nā mākua ʻelua kēia hoʻololi ʻana o ka gene , hiki nō i ke keiki ke hoʻomohala i kēia hoʻololi ʻana o ka gene. ʻO ia hoʻi, hiki ke hana me ka ʻole o ka mōʻaukala ʻohana. Ua kapa ʻia kēia he hanana de novo . No laila, ʻaʻole kēia he mea hiki i kekahi ke pale aku. ʻAʻole ia he hewa ou, ʻaʻole hoʻi he mea ʻē aʻe.
Pehea e ʻike ai nā kauka i kēia?
Ke hānau ʻia kāu pēpē, e ʻike paha ʻoe a me kāu kauka i
kekahi mau loli i ko lākou helehelena . A i ʻole, i ka ulu ʻana o kāu pēpē, e ʻike paha kāu kauka i nā hōʻailona o ka Pitt-Hopkins syndrome i ka wā
o kahi kipa pēpē maikaʻi a i ʻole ke kipa keiki maikaʻi . A laila e kauoha paha lākou i kekahi
mau hoʻokolohua kūikawā e hōʻoia i ke kūlana.
He aha nā hoʻokolohua e hana ʻia e hōʻoia i kēia?
E kuhikuhi paha kāu kauka i
ka hoʻāʻo ʻana i ka genetic no kāu keiki. Pili kēia i ka lawe ʻana
i kahi hāpana koko a i ʻole
kahi hāpana DNA mai kahi swab (kahi hāpana o nā cell i lawe ʻia mai loko mai o ka papālina). A laila e nānā kahi geneticist i ka hāpana e ʻike inā he
mutation i loko o ka gene TCF4 .
Inā loaʻa i kāu keiki kahi maʻi e like me ka hopu ʻana, hiki i kāu kauka ke kauoha i nā hoʻāʻo e like me:
- Hoʻāʻo EEG (Electroencephalogram): Ke ana kēia i ka hana uila o ka lolo. E like me ka ECG o ka puʻuwai, hiki iā ia ke hāʻawi i kahi manaʻo o ka hana o ka lolo.
- ʻO ke kiʻi MRI (Magnetic Resonance Imaging): Lawe kēia i nā kiʻi o ka lolo e ʻike inā he mau loli.
He aha nā lāʻau lapaʻau no kēia?
ʻO ka mea pōʻino,
ʻaʻohe lāʻau lapaʻau no ka Pitt-Hopkins Syndrome (PTHS). Eia nō naʻe,
hiki ke mālama ʻia nā hōʻailona o kēia maʻi . ʻO ia hoʻi, hiki iā mākou ke kōkua i ka hōʻemi ʻana i ka ʻehaʻeha o kāu keiki a hoʻomaʻalahi iki i ko lākou ola. Hiki iā ʻoe ke kamaʻilio me kāu kauka e ʻike inā pono kāu keiki i nā lawelawe a kēia mau loea:
- Gastroenterologist: No nā pilikia e like me ka paʻa ʻana.
- Neurologist: No nā mea e like me ka hopu ʻana a me ka nāwaliwali o nā ʻiʻo.
- Kauka Maka: No nā pilikia ʻike.
- Pulmonologist: No nā pilikia hanu.
E hana pū ana ke kime lapaʻau o kāu keiki e hoʻomohala i
kahi hoʻolālā lapaʻau i hoʻopilikino ʻia i nā hōʻailona o kāu keiki . ʻO ia hoʻi ka mālama ʻana i ka paʻa ʻana o ka ʻōpū, nā pilikia ʻike, a me nā pilikia hanu ʻana ma ke kaʻawale. Hiki ke loli nā hōʻailona o kāu keiki i ka hala ʻana o ka manawa, no laila pono paha ʻoe
e ʻike pinepine i kāu kauka a hoʻololi i kāu lāʻau . Mai hopohopo, ʻo kēia wale nō ka hāʻawi ʻana i kāu keiki i ke ola maikaʻi loa.
Hiki ke pale ʻia ka Pitt-Hopkins Syndrome (PTHS)?
ʻOiai
ua hoʻokumu ʻia kēia e kahi mutation genetic , ʻaʻohe mea hiki iā ʻoe ke hana e pale aku i kēia mutation. Eia nō naʻe,
inā ʻo ʻoe, kāu hoa, a i ʻole kekahi o kou ʻohana i loaʻa kēia maʻi genetic, a inā he moʻolelo kou o ka Pitt-Hopkins syndrome , he mea nui loa ia e kamaʻilio me ke kauka.
Pehea e ʻike ai inā pilikia kaʻu keiki i ka loaʻa ʻana o kēia maʻi?
Inā ʻoe e hāpai ana i kahi pēpē, a he moʻolelo ʻohana ko ʻoe a i ʻole kāu hoa pili no nā maʻi genetic, e kamaʻilio me kāu kauka e pili ana i
ke aʻo ʻana ma mua o ka hāpai ʻana . Hiki ke kōkua nui. Hiki i kahi kākāʻōlelo genetic ke haʻi hou aku iā ʻoe e pili ana i kēia.
Inā loaʻa i kaʻu keiki ka Pitt-Hopkins syndrome, he aha kaʻu e manaʻo ai?
ʻO ka maʻamau, pono nā keiki me ka Pitt-Hopkins syndrome i
ka mālama lapaʻau kūikawā a me nā lawelawe hoʻonaʻauao . Hiki i kāu kauka ke ʻōlelo i nā mea e like me:
- Hoʻōla hana: Kōkua i nā hana o kēlā me kēia lā, ka pāʻani, a me ka mālama ponoʻī. Kōkua kēia poʻe me nā mea e like me ka ʻai ʻana a me ke komo ʻana i ke kapa.
- Hoʻōla kino: Kōkua i ka hele wāwae, ke kaulike, a me ka ikaika o nā ʻiʻo. He mea nui kēia no ke kūkulu ʻana i ka ikaika kino o ke keiki.
- Hoʻōla ʻōlelo: Kōkua iā ʻoe e ʻōlelo, e hoʻomaopopo i ka mea a haʻi e ʻōlelo nei, a kamaʻilio. ʻOiai inā ʻaʻohe āu mau huaʻōlelo, hiki ke aʻo ʻia ʻoe e hōʻike iā ʻoe iho ma nā ʻano ʻē aʻe.
He aha ka manaʻolana e ola ai kēia mau keiki? (Wānana)
Hiki ke ʻokoʻa ke ola o nā keiki me ka Pitt-Hopkins syndrome .
Ola kekahi mau keiki a hiki i ka wā makua . ʻOi aku ka maikaʻi o ka nīnau ʻana i kāu kauka pehea e hiki ai iā ʻoe ke kōkua i kāu keiki e ola i ke ola olakino. He ʻokoʻa kēlā me kēia keiki, no laila he ʻokoʻa ka huakaʻi a kēlā me kēia kanaka.
Pehea e mālama ai i kaʻu keiki me ka Pitt-Hopkins Syndrome?
E kamaʻilio me ke kauka o kāu keiki e pili ana i ko lākou
olakino a me nā pono hoʻonaʻauao . Kekahi mau lāʻau lapaʻau, a i ʻole
Hiki i nā mea hoʻopili hoʻonui a me nā mea ʻē aʻe (AAC) ke kōkua i kāu keiki e launa pū me nā poʻe ʻē aʻe. Hiki i kāu kauka ke kamaʻilio pū me ʻoe e pili ana i nā Hoʻolālā Hoʻonaʻauao Pilikino (IEP) a me nā kumuwaiwai ʻē aʻe e hiki ke kōkua i kāu keiki. Aia nā ala kūikawā e aʻo ai i nā keiki me kēia mau kīnā, no laila e nānā iā lākou. Āhea e pono ai i kaʻu keiki ke ʻike i ke kauka?
He mea nui e lawe mau i kāu keiki i ke kauka a nānā pono i kona olakino . E nīnau i kāu kauka i ka pinepine o kona ʻike ʻana i kahi loea. Eia kekahi, e haʻi koke i kāu kauka inā loaʻa i kāu keiki kekahi mau hōʻailona hou . He manaʻo maikaʻi e haʻi i kāu kauka inā loaʻa i kāu keiki ke kuni a i ʻole ke hana ʻokoʻa nei ma mua o ka maʻamau. Pehea ka hopena o ka Pitt-Hopkins Syndrome i ke ʻano o kahi keiki?
ʻO ka mea maikaʻi loa, ʻo ka hapa nui o nā keiki me ka Pitt-Hopkins syndrome he hauʻoli loa a launa pū . Hiki iā lākou ke ʻakaʻaka nui, ʻakaʻaka nui, a i kekahi manawa hana pēlā me ke kumu ʻole. Hiki iā ʻoe ke ʻike iā lākou e pā ana i ko lākou mau lima a e lūlū ana i mua a i mua . ʻO kēia mau mea a pau kekahi hapa o ke kūlana. Hiki iā lākou ke ʻike iā lākou he hauʻoli a hoʻomaha. Eia nō naʻe, hiki i kekahi mau keiki ke hopohopo iki a hilahila paha . Inā he mau hopohopo kou e pili ana i kekahi mau loli i ke ʻano o kāu keiki, e kamaʻilio me kāu kauka e pili ana i ia mea. Ma ke ʻano he makua hou, hiki iā ʻoe ke manaʻo i ka makaʻu nui a me ka haʻalulu ke ʻike ʻoe he maʻi genetic kakaʻikahi kāu keiki e like me ka Pitt-Hopkins syndrome. He mea maʻamau loa ia. Akā, e hoʻomanaʻo, me ka mālama lapaʻau loea a me ka lāʻau lapaʻau, hiki i kāu keiki ke ola i kahi ola olakino .
Hiki paha i kāu kauka ke kuhikuhi iā ʻoe i kahi kākāʻōlelo genetic . He poʻe loea lākou i ka genetics. Hiki iā lākou ke kōkua iā ʻoe e ʻoluʻolu, kōkua iā ʻoe e hoʻomaopopo i ka hōʻailona, a alakaʻi iā ʻoe i ka mea hiki iā ʻoe ke hana e kōkua i kāu keiki e ola i kahi ola olakino a hoʻokō . E hoʻomanaʻo ʻaʻole ʻoe hoʻokahi i kēia huakaʻi. ʻO nā mea nui loa āu e hoʻomanaʻo ai
Ke lana nei ko mākou manaʻo ua loaʻa iā ʻoe kekahi ʻike e pili ana i ka Pitt-Hopkins Syndrome (PTHS) e like me kā mākou i kūkākūkā ai. ʻOiai he maʻi kakaikahi kēia, he mea nui loa ia e ʻike.- He maʻi hoʻoilina ka PTHS i hoʻokumu ʻia e kahi mutation i loko o ka gene TCF4. Hoʻopilikia kēia i ka ulu ʻana o ka lolo a me ka ʻōnaehana nerve.
- ʻOkoʻa nā hōʻailona. ʻO ka lohi o ka ulu ʻana, nā pilikia ʻōlelo, nā loli o ka helehelena, nā maʻi ʻūlū, a me nā pilikia hanu nā mea nui.
- ʻAʻole kēia he autism, akā like paha kekahi o nā hōʻailona.
- ʻOiai ʻaʻohe lāʻau lapaʻau piha, hiki ke mālama ʻia nā hōʻailona. Loaʻa nā ʻano lapaʻau like ʻole a me ke kōkua o nā kauka loea.
- ʻO ka ʻike mua ʻana a me ka mālama kūpono ʻana e kōkua nui i ka hoʻomaikaʻi ʻana i ke ola o ke keiki.
- ʻAʻole ʻoe hoʻokahi. Ua mākaukau nā kauka, nā mea hoʻōla, a me nā kākāʻōlelo e kōkua iā ʻoe a me kāu keiki. Mai makaʻu e ʻimi i kā lākou kōkua.
- He kū hoʻokahi kēlā me kēia keiki. Loaʻa i nā keiki me ka PTSD ko lākou mau talena ponoʻī a me nā ʻano o ka hauʻoli. ʻO ka mea nui loa, ʻo ia ke hāʻawi iā lākou i ke aloha, ka mālama, a me ke kākoʻo kūpono.
ʻO ka Pitt-Hopkins Syndrome, PTHS, nā maʻi genetic, gene TCF4, lohi o ka ulu ʻana, ke kīnā noʻonoʻo, nā hopu ʻana, ke olakino o ke keiki, ke aʻo ʻana i nā genetics
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