Fragile X Syndrome: he aha ia, nā ʻano a me ka mālama ʻana

Anter

• Nā hiʻohiʻona nui o ka maʻi
• Pehea e hana ʻia ai ke kuhi
• Pehea e hana ai i ka lāʻau

ʻO Fragile X Syndrome kahi maʻi maʻi i kū ʻia ma muli o ka hoʻololi ʻana i ka X chromosome, e alakaʻi ana i nā hanana hou o ke kaʻina CGG.

No ka mea hoʻokahi wale nō kā lākou chromosome X, ʻoi aku ka hopena o nā keikikāne e kēia maʻi, e hōʻike ana i nā hōʻailona ʻano e like me ke alo elongated, nā pepeiao nui, a me nā ʻano lawena e like me nā autism. Hiki i kēia mutation ke hana i nā kaikamahine, akā ʻoi aku ka haʻahaʻa o nā ʻōuli a me nā ʻōuli, no ka mea he ʻelua mau chromosome X, uku ʻia ka chromosome maʻamau no ka hemahema o kekahi.

He paʻakikī ke kuhi ʻana o ka maʻi X palupalu, ʻoiai ʻo ka hapa nui o nā ʻōuli he nonspecific, akā inā aia kahi moʻolelo ʻohana, he mea nui e hoʻokō i nā ʻōlelo aʻoaʻo kūʻē e nānā i nā manawa o ka maʻi kūpilikiʻi. Hoʻomaopopo i ke ʻano o ka ʻōlelo aʻoaʻo kūpuna a pehea e hana ai.

Nā hiʻohiʻona nui o ka maʻi

ʻO Fragile X Syndrome kahi ʻano nui e nā maʻi o ka lawena a me ka hōʻino ʻana o ka naʻau, ʻoi loa i nā keikikāne, a aia paha he mau pilikia i ke aʻo ʻana a me ka ʻōlelo ʻana. Hoʻohui ʻia, aia kekahi ʻano kino, i hoʻopili ʻia:

• Helehelena elongated;
• Nā pepeiao nunui, aia i waho;
• Pākuʻi e kuʻi ana;
• Leo hoʻohaʻahaʻa haʻahaʻa;
• Nā wāwae pālahalaha;
• Palate kiʻekiʻe;
• Pelu pā hoʻokahi;
• Strabismus a myopia paha;
• Scoliosis.

ʻO ka hapa nui o nā hiʻohiʻona e pili ana i ka maʻi e ʻike wale ʻia mai ka wā ʻōpio. I nā keikikāne he maʻa mau ka loaʻa ʻana o kahi testicle hoʻonui ʻia, ʻoiai he pilikia paha ka wahine me ka momona a me ka maikaʻi ʻole o ka ovarian.

Pehea e hana ʻia ai ke kuhi

ʻO ke kuhi o ka maʻi X palupalu hiki ke hana ʻia e nā hoʻokolohua moleola a me chromosomal, e ʻike i ka hoʻololi ʻana, ka helu o nā kaʻina CGG a me nā ʻano o ka chromosome. Hana pinepine ʻia kēia mau hoʻāʻo me kahi hāpana koko, lawaiʻa, lauoho a i ʻole ka wai amniotic, inā makemake nā mākua e hōʻoia i ke alo o ka maʻi maʻi i ka wā hāpai.

Pehea e hana ai i ka lāʻau

ʻO ka hoʻomaʻamaʻa ʻana no ka maʻi X palupalu ma o ka hoʻomaʻamaʻamaʻamaʻama, hoʻoikaika kino a, inā pono, ʻoki e hoʻoponopono i nā loli kino.

Pono nā kānaka me ka mōʻaukala palupalu X maʻi maʻi i loko o ka ʻohana e ʻimi i nā ʻōlelo aʻoaʻo pilikino e ʻike ai i ka likelike o ka loaʻa ʻana o nā keiki me kēia maʻi. Loaʻa i nā kāne ka karyotype XY, a inā pili lākou hiki iā lākou ke lawe i ka maʻi i kā lākou kaikamahine wale nō, ʻaʻole i kā lākou keiki kāne, ʻoiai ʻo ka moʻokūʻī i loaʻa i nā keikikāne ʻo Y, a ʻaʻole kēia e hōʻike i kahi loli e pili ana i ka maʻi.