Nā hiʻohiʻona o Williams-Beuren Syndrome

Anter

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

ʻO Williams-Beuren Syndrome kahi maʻi maʻi laha ʻole a ʻo kāna ʻano nui he ʻano aloha, hyper-social a me ke kamaʻilio kamaʻilio ʻana o ke keiki, ʻoiai e hōʻike ana i ka puʻuwai puʻuwai, ke kaulike, ke kaohi o ka noʻonoʻo a me nā pilikia psychomotor.

Hoʻopili kēia maʻi i ka hana ʻana o elastin, e hoʻohuli nei i ka lahilahi o nā kīʻaha koko, nā māmā, nā ʻōpū a me nā ʻili.

Hoʻomaka nā kamaliʻi me kēia maʻi e kamaʻilio ma kahi o 18 mau makahiki o ko lākou mau makahiki, akā hōʻike maʻalahi i ke aʻo ʻana i nā mele a me nā mele a loaʻa, ma ka laulā, ka noʻonoʻo mele nui a me ka hoʻomanaʻo hoʻomanaʻo maikaʻi. Hōʻike pinepine lākou i ka makaʻu ke lohe i ka paʻipaʻi, blender, mokulele, a me nā mea ʻē aʻe, no ka mea hypersensitive lākou i ke kani, kahi ʻano i kapa ʻia ʻo hyperacusis.

Nā hiʻohiʻona nui

I kēia maʻi, hiki i kekahi mau hiʻi ʻana o nā genes ke hana, a no laila ʻokoʻa ʻokoʻa paha nā ʻano o kekahi kanaka mai kekahi. Eia nō naʻe, ma waena o nā ʻano hiki ke loaʻa.

• ʻO ka pehu a puni nā maka
• Liʻiliʻi, kū i ka ihu
• ʻŪlū liʻiliʻi
• ʻIli lahilahi
• Iris Starry i ka poʻe me nā maka polū
• Ka lōʻihi o ka lōʻihi ma ka hānau ʻana a me ka hemahema ma kahi o 1 a 2 cm i ke kiʻekiʻe i kēlā me kēia makahiki
• Lauoho lauoho
• Nā lehelehe kino
• Leʻaleʻa no ke mele, mele a me nā mea kani
• Pīʻai hānai
• Pākuʻi ʻōpū
• Nā haunaele hiamoe
• Maʻi maʻi ʻōpū
• Hypertension arterial
• ʻO nā maʻi pepeiao hou
• Strabismus
• ʻO nā niho liʻiliʻi kahi kaʻawale loa
• ʻO ka minoʻaka pinepine, ka maʻalahi o ke kamaʻilio ʻana
• ʻO kekahi kīnā o ka ʻike, mai ke akahai a i ke kaulike
• Ka nele o ka hoʻolohe ʻana a me ka hyperactivity
• I ka wā kula he paʻakikī i ka heluhelu, ka ʻōlelo ʻana a me ka makemakika,

He mea maʻamau ia no nā poʻe me kēia maʻi e loaʻa i nā pilikia olakino e like me ke kiʻekiʻe o ke koko, otitis, nā maʻi urinary, nā puʻuwai maikaʻi ʻole, endocarditis, nā pilikia niho, a me nā scoliosis a me nā kuʻina o nā hono, keu hoʻi i ka wā ʻōpio.

Lohi ka hoʻomohala kaʻa, lawe manawa no ka hele wāwae, a pilikia nui lākou i ka hana ʻana i nā hana e koi ai i ka hoʻonohonoho ʻana o ka moto, e like me ka ʻoki pepa, kaha kiʻi ʻana, holo kaʻa paikikala a i ʻole nā ​​nakinaki ʻana i ko lākou kāmaʻa.

Ke lilo ʻoe i makua, hiki i nā maʻi psychiatric e like me ke kaumaha, nā ʻōuli koi obsessive, phobias, ka weliweli weliweli a me ke koʻikoʻi post-traumatic.

Pehea e hana ʻia ai ke kuhi

ʻIke ke kauka aia ka maʻi o ke keiki ʻo Williams-Beuren i ka nānā ʻana i kāna mau ʻano, e hōʻoia ʻia ana ma o ka hoʻāʻo genetika, kahi ʻano o ka hoʻāʻo koko, i kapa ʻia ka fluorescent in situ hybridization (FISH).

ʻO nā hoʻāʻo e like me ultrasound o ka puʻupaʻa, ke nānā ʻana i ke kahe o ke koko a me ka loaʻa ʻana o ka echocardiogram hiki ke kōkua pū kekahi. Hoʻohui, nā pae kiʻekiʻe o ka puna i loko o ke koko, ke koko kiʻekiʻe, nā hono maha a me nā ʻano hōkū o ka iris, inā polū ka maka.

ʻO kekahi mau peculiarities hiki ke kōkua i ke kuhi ʻana o kēia maʻi ʻaʻole makemake ke keiki a makua paha e hoʻololi i nā wahi i hea lākou, ʻaʻole lākou i makemake i ke one, a me nā ʻanuʻu a me nā papa hele kaulike ʻole.

Pehea ka lāʻau

ʻAʻohe lāʻau lapaʻau a Williams-Beuren maʻi a ʻo ia ke kumu e pono ai ke hele pū me ke kauka lāʻau, kauka, kauka haʻiʻōlelo, a me ke aʻo ʻana i ke kula kūikawā no ka retardation noʻonoʻo o ke keiki. E kauoha paha ke kauka pediatrician i nā hoʻāʻo ʻana i ke koko e loiloi pinepine i nā pae o ka puna a me ka huaola D, i hoʻokiʻekiʻe ʻia ma luna.