Syndrome Angelman

syndrome Angelman Ko te Pākatokato iranga (irakētanga pūira), hua i roto i te roa i roto i te whanaketanga hinengaro, mai i te rawaka te i hanga pūnaha romahā, e whakawhanake pūnaha neurobiological. Na, he tangata he kata auau, nekehanga ringa Horehore, hukihuki, moe ohorere. Tenei mate e kore e mahu, engari he taea whakapai ake anake i roto i te kaupapa e makona i te hiahia te tangata taketake mō te hāora.

puta te mate rite ki te hua o te koha pūira noa, e tika ana ki te irakētanga i roto i te ira, i reira ko etahi kinonga o te pūmua whākōkī.

Ki te rā, puta syndrome Angelman i roto i tetahi i roto i o e rua tekau mano hou. Kei te āhuatanga i te reira e:

1. raruraru ki whāngai ū, no te mea titau tenei tukanga te ruruku pai o te manawa, i roto i te tikanga ki te karo wawata. Na reira, nga tamariki kore āta riro taimaha.

2. Ko te roa i roto i te whanaketanga o ngā pūkenga nekeneke whānui, kupu, whakarongo. He he he uaua i roto i to ratou whakangungu.

3. I te 80% o ngā take haurangi symptomatic. He tremors, me kaupapa uncoordinated o wahi, haehae puta, e taea e i roto i nga uaua katoa o te tinana, kia rite ki te mate pātītī o te mahara ranei.

4. kata a ataata hoki kahore take.

5. Tūkinotanga i roto i te whanaketanga whānui - te he rahi o te matenga , me ngā āhuatanga kanohi, squint, curvature o te tuaiwi.

pāngia syndrome Angelman e tātaritanga ira o te pūira 15. Kei te whakamahia te reira, no te reira te heke reo uaua i roto i nga kohungahunga, roa i roto i te whanaketanga reo me ngā pūkenga nekeneke, me te te faaati pai whakanui, nekehanga alangá kōhikohiko, kata auau ranei e haere ana i runga i nga waewae wherahia. Hoki methylation DNA whai hua, tātari irakētanga me te pokapū imprintingvogo ira UBE3A.

Ki te rā, e kore i whakawhanakehia maimoatanga o tenei mate. Ko reira ko te maha o ngā mahi e hāngai ana ki te whanaketanga o ngā tamariki ki te retardation hinengaro, me te whakapai ake i to ratou kounga o te ora.

Hei tauira, ngaahi kalasi ki defectology me therapy kupu, whakamahia therapy tinana i roto i te take o te uaua hypotonia, me hypnotics whakaritea mo disorders moe. I roto i te whakaeke whakamahia āpiha whakaora ko te taua rite i roto i te haurangi (anticonvulsants). Hoki o te tiaki i te mahi noa o te paru e whakamahia laxatives.

Te hopu ake ki ngā tamariki i te tīmatanga o te tau, te whakamahi i ngā hōtaka motuhake e arotahi ana ki te i te whanaketanga o ngā pūkenga nekeneke, e taea te whakatutuki i ngā hua pai.

Tuhinga mo te whanaketanga o te iwi ki te syndrome, tei runga i te pūira ma rima pehea maongo. Ētahi ako reira me ngā pūkenga o te mahi-whaiaro i te taumata iti, e kore e etahi e taea ki te kōrero me te haere.

Ko te kupu, mō ngā tamariki e whai syndrome Angelman, āhuatanga e etahi āhuatanga o te whanonga: impulsivity, autostimulyatsiya, uaua i roto i kōrero ki te iwi. A ahakoa kia te nuinga o ratou te mea tino ngaro, ratou katoa te tikanga hoa, pai, aroha ratou ki te tākaro, na he mea tika ki te whakaako ratou haina reo, kia i taea ki te kōrero ki te iwi ratou.

titau te mate whakawhanaketanga taua whakangungu motuhake i te wāhanga tuatahi, kia rite ki ki tau kei te anake tipu te raruraru. He ke tonu te whanonga o te iwi, kua whakahuatia ratou anake e tohu me ngā oro ka taea e kia pukuriri i roto i te take o te pōhēhē. mamae te whānau te wahi i reira he tamariki ki te syndrome Angelman maha i te kore o te kōrero, engari kia mahara reira e hiahia ana ki te karapoti i te huru o te pai, me te whakarato ratou ki te tiaki e tika ana, me te maimoatanga, a ka taea tatou te whakatutuki i ngā hua pai tūroro.