Cri du Chat Syndrome: he aha ia, nā kumu a me ka mālama ʻana

Anter

• Nā hōʻailona nui
• He aha ke kumu o kēia maʻi maʻi
• Pehea e hana ai i ka lāʻau
• Nā pilikia o Cri du Chat
• Manaʻo ola

ʻO Cri du Chat Syndrome, i ʻike ʻia ʻo cat meow Syndrome, kahi maʻi maʻi ʻōiwi laha ʻole i hopena ʻia mai kahi genetic abnormality i loko o ka chromosome, chromosome 5 a hiki i ka lohi o ka hoʻomohala neuropsychomotor, hoʻolohi ʻike a me ka nui o nā pilikia koʻikoʻi. o ka puʻuwai a me nā puʻupaʻa.

Loaʻa ka inoa o kēia maʻi maʻi i kahi hōʻailona o ke ʻano a kahi uē o ke keiki hānau hou e like me ka meow o ka pōpoki, ma muli o ka malformation o ka larynx i hoʻopau ʻia e hoʻololi i ke kani o kā ka pēpē uē. Akā ma hope o 2 mau makahiki, ua nalo ke kani ʻana o ka meow.

Ma muli o ka Meow kahi ʻano kikoʻī loa o Cri du Chat syndrome, hana pinepine ʻia ke kuhi ma nā hola mua o ke ola, a no laila, hiki ke hāʻawi koke ʻia i ka pēpē no ka hana kūpono.

Nā hōʻailona nui

ʻO ka ʻōuli hōʻailona o kēia maʻi ke uē like me ka ʻeha nui o ka pōpoki. Eia hou, aia kekahi mau hōʻailona ʻē aʻe i hiki ke ʻike ʻia ma hope pono o ka hānau ʻana, e like me:

• Hui pū nā manamana lima a me nā manamana wāwae paha;
• Kaumaha hānau haʻahaʻa a me nā makahiki;
• Laina hoʻokahi i ka poho o ka lima;
• Hoʻolālā hoʻolālā lohi;
• Muku liʻiliʻi;
• Nāwaliwali o ka ʻiʻo;
• Alahaka ihu haʻahaʻa;
• Nā maka ākea;
• ʻO Microcephaly.

ʻO ka hōʻailona o Cri Du Chat syndrome i hana ʻia i ka hale hānau, mau hola ma hope o ka hānau ʻana o ka pēpē, e ka nānā ʻana i nā ʻōuli i luna. Ma hope pono o ka hōʻoia ʻana, hoʻomaopopo ʻia nā mākua e pili ana i nā pilikia e loaʻa i ka pēpē i ka wā e ulu ana, e like me ka paʻakikī e aʻo a me ka hānai ʻana.

Hiki i kēia mau keiki ke hoʻomaka i ka hele wāwae ma hope ma kahi o 3 mau makahiki o ka makahiki, ke hōʻike hele wāwae nei me ke ʻano hemahema a me ka ʻole o ka ikaika a me ke kaulike ʻole. Hoʻohui ʻia, i ka wā kamaliʻi hiki iā lākou ke hana e like me ka pulakaumaka ʻana i kekahi mau mea, hyperactivity a me ka hana ʻino, no ka laʻana.

He aha ke kumu o kēia maʻi maʻi

Hoʻokumu ʻia ʻo Cat meow Syndrome e kahi hoʻololi o ka chromosome 5, kahi e nalowale nei kahi ʻāpana chromosome. ʻO ke koʻikoʻi o ka maʻi ma muli o ka nui o kēia loli, ʻo ia hoʻi, ka nui o ka ʻāpana i lilo, ʻoi aku ka nui o ka maʻi.

ʻAʻole ʻike ʻia nā kumu o ke kāpae ʻia ʻana o kēia ʻāpana, akā ʻike ʻia ʻaʻole ia he kūlana hoʻoilina, ʻo ia hoʻi, hana lōkahi kēia loli a ʻaʻole hāʻawi ʻia mai nā mākua i ke keiki.

Pehea e hana ai i ka lāʻau

No ka mea he loli ke ʻano o ka chromosome, ʻaʻohe lāʻau no kēia maʻi, ʻoiai ua hānau ʻia ke keiki me kēia ʻano a ʻaʻole hiki ke hoʻololi i kahi ʻano genetika ma hope o ka hānau ʻana. Eia nō naʻe, mālama ʻia ka lāʻau e hoʻonui i ka maikaʻi o ke ola a hōʻemi i nā ʻōuli o ka maʻi.

Nānā ʻia ke keiki me ke kōkua o nā haʻiʻōlelo, nā physiotherapist a me nā limahana limahana, e hiki ai i ka ulu ʻana o ka hoʻonohonoho ʻana o ka kaʻa, nā mākau ʻike a me nā ʻike, nā hana o ka nohona o kēlā me kēia lā a me nā pilina kanaka.

He mea nui ka hoʻomaka ʻana o ka lapaʻau i ka wā hiki loa, e like me ka hoʻonāukiuki mua ʻana e ʻae ai i ka hoʻomohala maikaʻi ʻana, ka hoʻololi a me ka ʻae ʻana i ka maʻi e ka mea i ka ʻōpio a me ke kanaka makua.

Nā pilikia o Cri du Chat

Aia nā pilikia o kēia maʻi e like me ka paʻakikī o ka loli i ka chromosome, a i kēia mau hihia hiki i nā keiki ke hōʻike i nā hōʻailona e like me nā pilikia i ka iwi kuamoʻo, ka puʻuwai a i ʻole nā ​​mea ʻē aʻe, nāwaliwali nā mākala i nā makahiki mua o ke ola a me nā pilikia i ka hoʻolohe ʻana. a me ka hihiʻo.

Eia nō naʻe, hiki ke hoʻemi ʻia kēia mau pilikia me ka mālama ʻana a me ka ukali ʻana mai nā lā mua o ke ola.

Manaʻo ola

Ke hoʻomaka ka lapaʻau ʻana i nā mahina mua o ke ola a piha nā keiki i ka 1 makahiki, manaʻo ʻia ke kali ʻana o ke ola he maʻamau, a hiki i ke kanaka ke ʻelemakule. Eia nō naʻe, i nā hihia koʻikoʻi kahi pēpē a pēpē paha ka pilikia o ka pēpē, a inā ʻaʻole lawa ka lapaʻau ʻana, make paha i ka makahiki mua o ke ola.