ʻO Rubinstein-taybi Syndrome: Nā kumu, nā ʻōuli a me nā lāʻau

Anter

• Hoʻopuka kēia maʻi i nā hoʻololi o ke kino a me ka noʻonoʻo i nā keiki hānau hou.
• He aha ka maʻi Rubinstein-Taybi?
• Pili nā ʻōuli i nā hoʻololi anatomical
• Nā pilikia kīnā o ka ʻike a me nā pilikia hoʻomohala
• He maʻi maʻi kumu
• Noi ʻia nā hana

Hoʻopuka kēia maʻi i nā hoʻololi o ke kino a me ka noʻonoʻo i nā keiki hānau hou.

I ka wā o ka hoʻomohala fetal, hana kā mākou genes i ke ala a lākou e kauoha ai i ka ulu a me ke hoʻokumu ʻana o nā ʻano ʻokoʻa a me nā ʻōnaehana e hoʻonohonoho i kahi mea hou.

I ka hapanui o nā hihia, kū kēia hanana i kahi ala maʻamau ma o ka ʻike kūpuna mai nā mākua, akā i kekahi manawa e hana ʻia nā mutation i nā genes e hana i nā hoʻololi i ka ulu ʻana. Hāpai kēia i nā syndrome ʻokoʻa, e like me ʻO Rubinstein-Taybi maʻi, o ia e ʻike ai mākou i nā kikoʻī ma lalo.

He aha ka maʻi Rubinstein-Taybi?

ʻO Rubinstein-Taybi maʻi maʻi manaʻo ʻia he maʻi laha ʻole o ke kumu kūlohelohe kū kēlā i kahi o hoʻokahi i kēlā me kēia haneli tausani hānau. Hoʻohālikelike ʻia e ke alo o ke kīnā ʻole o ka ʻike, ka mānoanoa o nā manamana nui o nā lima a me nā wāwae, hoʻolohi i ka hoʻomohala, ke kino pōkole, microcephaly, a me nā ʻano helehelena anatomical like ʻole, nā ʻano i ʻike ʻia ma lalo nei.

No laila, hōʻike kēia maʻi i nā anatomical (malformations) a me nā ʻōuli noʻonoʻo. E ʻike kākou he aha lākou a he aha ke koʻikoʻi.

Pili nā ʻōuli i nā hoʻololi anatomical

Ma ka pae o ka morphology o ke alo, ʻaʻole ʻike pinepine ʻia ʻokoʻa nā maka i hoʻokaʻawale ʻia a i ʻole hypertelorism, nā eyelids elongated, pākaha kolohe, hypoplastic maxilla (nele i ka hoʻomohala ʻana o nā iwi o ka iwi ā luna) a me nā anomalies ʻē aʻe. E pili ana i ka nui, e like me kā mākou i ʻōlelo ai ma mua, he mea maʻamau ka pōkole o ka hapa nui o lākou, a me kahi pae o ka microcephaly a me ka hoʻolohi iwi ʻana. ʻO kekahi o nā hiʻohiʻona maʻalahi a ʻike ʻia o kēia maʻi i ʻike ʻia ma nā lima a me nā wāwae, me ka laulā ma mua o nā manamana nui a me nā phalanges pōkole.

Ma kahi o ka hapahā o ka poʻe me kēia maʻi maʻi ʻeha e ʻeha mai nā kīnā o ka naʻau congenital, pono e nānā ʻia me ke akahele kūikawā ʻoiai hiki iā lākou ke alakaʻi i ka make o ka mea ʻōpio. Ma kahi o ka hapalua o ka poʻe i hoʻopilikia ʻia he pilikia ʻōpala, a me nā pilikia ʻē aʻe i loko o ka ʻōnaehana genitourinary he mea maʻamau (e like me ka uterus bifid i nā kaikamahine a i ʻole ka hua ʻole o hoʻokahi a i ʻole ʻelua testicle i nā keikikāne).

Nā hana ʻino weliweli ua loaʻa pū kekahi i ka ʻōpū hanu, ʻōnaehana gastrointestinal, a me nā meaola e pili ana i ka meaʻai e alakaʻi i nā pilikia hānai a me ka hanu. Maʻamau nā maʻi ʻino. ʻO nā pilikia ʻike e like me strabismus a i ʻole glaucoma he mea maʻamau, a me ka otitis. ʻAʻohe o lākou makemake i nā makahiki mua a koi ʻia paha ka hoʻohana ʻana o nā paipu, akā ke ulu lākou a ʻeha lākou i ka momona o ke keiki. Ma ka pae neurological, hiki ke nānā ʻia ka hopu ʻana i kekahi manawa, a ʻoi aku ka nui o kā lākou pilikia i ka ʻeha ʻana i nā maʻi ʻokoʻa.

Nā pilikia kīnā o ka ʻike a me nā pilikia hoʻomohala

ʻO nā hoʻololi i hana ʻia e Rubinstein-Taybi syndrome pili pū kekahi i ka ʻōnaehana hopohopo a me ke kaʻina hana ulu. ʻO ka ulu ulu a me ka microcephaly e kōkua i kēia.

ʻO ka poʻe me kēia maʻi maʻi maʻamau i ke kino kīnā o ka naʻau, me kahi IQ ma waena o 30 a me 70. ʻO kēia kekelē o ke kīnā ʻole e ʻae iā lākou e loaʻa ka hiki ke ʻōlelo a heluhelu, akā ʻaʻole hiki iā lākou ke ukali i ka ʻike maʻamau a koi i ka ʻike kūikawā.

ʻO nā mile mile o ka hoʻomohala ʻokoʻa pū kekahi hōʻike i kahi lohi nui, hoʻomaka e hele lohi a me ka hōʻike ʻana i nā kikoʻī i ke kolo kolo. E pili ana i ka haʻiʻōlelo, ʻaʻole hoʻomohala kekahi o lākou i kēia hiki (ma ia hihia e aʻo ʻia lākou i ka ʻōlelo ʻōuli). I kēlā mau hana, kau palena ʻia ka hopunaʻōlelo, akā hiki ke hoʻoulu ʻia a hoʻomaikaʻi ʻia ma o ka hoʻonaʻauao ʻana.

Hiki ke loli ke ʻano a me nā pilikia o ka lawena, keu hoʻi i nā mākua.

He maʻi maʻi kumu

ʻO nā kumu o kēia maʻi he kumu kūlohelohe. ʻO nā kikoʻī, nā hihia i ʻike ʻia ua hoʻopili nui ʻia i ke alo o Holoi a i ʻole nalo ʻana i kahi ʻāpana o ka ʻāpana CREBBP ma chromosome 16. I nā hihia ʻē aʻe, ua ʻike ʻia nā hoʻololi ʻana o ka gen EP300 ma ka chromosome 22.

I ka hapanui o nā hihia, ʻike pinepine ʻia ka maʻi, ʻo ia hoʻi, ʻoiai he kumu kumu ʻole ia, ʻaʻole ia he maʻi i hoʻoili ʻia, akā kū aʻe ka hoʻololi kūlohelohe i ka ulu ʻana o ka embryonic. Eia naʻe, ua ʻike pū ʻia nā hihia hoʻoilina, i kahi ʻano mana autosomal.

Noi ʻia nā hana

ʻO Rubinstein-Taybi maʻi kahi maʻi maʻi ʻaʻohe maʻi mālama. Mālama ka lāʻau i ka hōʻemi ʻana i nā ʻōuli, hoʻoponopono i nā mea ʻino anatomical ma o ke kaha ʻana, a me ka hoʻomaikaʻi ʻana i kā lākou hiki mai kahi kuanaʻike multidisciplinary.

Ma ka pae ʻoki, hiki ke hoʻoponopono puʻuwai, ocular a me ka lima a me ka wāwae deformities. ʻO ka hoʻoponopono hou ʻana a me ka physiotherapy, a me ka haʻiʻōlelo a me nā ʻano hana like ʻole a me nā ʻano hana e hiki ke kākoʻo i ka loaʻa a me ka maikaʻi o ka mākau a me ka mākau ʻōlelo.

ʻO ka mea hope loa, pono ke kākoʻo psychological a me ka loaʻa ʻana o nā mākau maʻamau o ke ola o kēlā me kēia lā i nā manawa he nui. Pono pū kekahi e hana me nā ʻohana e hāʻawi iā lākou i ke kākoʻo a me ke alakaʻi.

ʻO ke kali ʻana o ke ola o nā mea e hoʻopili ʻia e kēia maʻi hiki ke maʻamau e like me ʻoiai ke mālama ʻia nei nā pilikia mai kā lākou hoʻololi anatomical, keu hoʻi i nā puʻuwai.