Parsley maʻi pale - i ka maʻi, he mau "hauʻoli" kanaka

Parsley maʻi pale, i ike ia ma ka 'epekema koʻikoʻi a hanohano Angelman maʻi pale, he neuro-aaiaoe pathology i ua wehewehe aku e hoolohi' ana o ka 'imi naʻauao a me ka physical kiko'î o ke kanaka, ma ka mea ku ei o ka hiamoe' ole a me ka wakefulness, kāʻili 'ana, a me ka manawa e erratic ka neʻe' ana o na lala. Me ke kanaka helehelena , aole ia i haʻalele i ka minoʻaka, oia mau loa kaʻaka noʻaʻohe kumu, a me ka nana infinitely pomaikai. Lima ka neʻe 'ana, ua nui e like applause, ka paʻipaʻi lima. i kapaʻia Parsley maʻi pale maʻi pale hauʻoli puppets, e like me ka maʻi kanaka i ke ano o ka pēpē kIʻi, a me ka ikaika minoʻaka ma luna o kona maka, a me ka meaʻuʻuku pinepine twitching lima, manao ma ke kuʻekuʻe aku - he lauoho ka laulā me ka puppet puppet, e hoʻohanaʻia hoʻi ka puppeteer i nā kaula o ka a.

No ka mea manawa mua i ho'ākāka keia aaiaoe pathology i ka 1965 na Kauka Harry Angelmanom pediatrician, ka poe i kiai ekolu ka polokalamu JavaScript keiki loli ana ma keia maʻi. Ua ua i ka manawa muaʻo ia, a me kona hoʻomanawanui iki mai i kapaia "puppet keiki." Ka hope hoohiki ana o ka maʻi iʻikeʻia i loko o ka US ma ke kakahiaka nui 80s. Parsley maʻi pale - he 'ano like maʻi. Ke alapine (frequency) o kona hanana ma ka ana heluʻikepili o Hawaii University (USA) o 1: 20,000 nā pēpē.

Genetically Angelman maʻi pale ua kauoha ae la ia e ka nele ana o kekahi mau nā'ōewe mai chromosome 15. Ma kekahi mau hihia, hapa moʻolelo holoi, oa i ka poho o ka'ōewe māhele 'āina, a me mutation o ka 15th somatic chromosome. I hookuu e loli ai ka maternal chromosome, i ua hele mai ka makuahine i ka fetus. Akā, ka mea hiki e poino no hoi ma o kona makua kāne, ma ka a ina i ka maʻi ua ike like Prader-Willi maʻi pale. Ke karyotype o ke kanaka schematically denoted like XX a me 46 XY, 15r-. Noho'na makaainana i ulu chromosomal kina ua wehewehe aku ma ka wa e kaawale aku o ka nui kokoke wahi o ka helu i ka nui (i ia 3-4 miliona) hui o ka DNA kumu i loko o ka'āina q11-q13 wale i kaʻai 15 ko chromosome. Kuokoa haʻawina hōʻike i nā kumu o kēia mau mutational loli, kena ae la ia e mutational loli ma ka UBE3A'ōewe. Ke huahana o keia'ōewe o ka'ūhū ke keʻena o ka luna 'kahua o nā polokina hoʻololi iho. Parsley hiki diagnose i ka maʻi pale ma aaiaoe Ka Ikepili.

Children loaa mai Angelman maʻi ma ka noho 'ana kamaliʻi i pilikia a me ka ai, o ka oi aku i loko o kakahiaka wā kamaliʻi, ka mea e ole ka waiwai i kaupaonaʻia. A iki ma hope, oe e hai i ke kali hou aku i loko o ka Hawaii kūpono 'ana o ke keiki mau akamai pū nō hoʻi, i ka loa i ka hopena, e hoʻomaka e noho, a hele. Aia ka he ino, hune olelo. Mau keiki, ua nui aku ka ike ma mua o ka mea hiki ke'ōlelo a ka hoike ma ka olelo.

Ma ke kula makahiki, eia nui pilikia me ke aʻo ana i ka poe i diagnosed me Parsley maʻi pale, mau nō ke heluhelu me ka pilikia nui ma. Ka mea mau loa inattentive a me ka hyperactive. Epilepsy a me ka hana neʻe, i ka nui, ka lole tremor, a me chaotic ka neʻe 'ana o ka lala, pinepine akaaka noʻaʻohe kumu hoomaopopo i kēia mau keiki. E hoomanawanui i malama i kekahi ano gait - stiffly. He no ka mea, o keia hiʻona, e kapaia ka mea, puppets. ka mea no hoi i ka mea uuku poo me ka iki flattened hoʻi o ke poo, ākea waha, koʻikoʻi chin, nui i wāhiʻia ma waena o nā niho, a nei iluna alelo. Eia hou, ka hapalua o ka hoʻomanawanui iki mai i strabismus, scoliosis a me ka pā lonoaʻili i ke kiekie ana wela.

Parsley maʻi pale Keʻaʻohe kekahi kūlana kanaka, akā, e hoʻoikaika i ka pono o ke ola o nā mea maʻi, ua hiki i ke kōkua o kekahi mau pākōlea ana. Keiki hana lomilomi, pana aku au i physiotherapy. At kamaliʻi makahiki keiki āpau i komo i olelo kino a me ka olelo pathologists. E normalize i ka hiamoe, ua hoakaka ia e hiamoe ana maʻalahi. Epileptic ke kāʻili 'ana i ia me anticonvulsants. Pinepine, keiki i ao mai hoailona 'ōlelo.

Parsley maʻi pale i oi paha e lakou aloha ia keiki, akā, kaikamāhine mea i susceptible i kēia maʻi. I ka 'inikua hana, i ka hihia o ka hāpai keiki o ka wahine me ka hauʻoli puppet maʻi pale, ka mea i hanau i ke kaikamahine, hoi, "hauʻoli." Wale nō ke kumukuai o ia ka pomaikai i kanaka e hoomanawanui i ka incredibly kiʻekiʻe ...