Pāhiri syndrome - te mate, ko te wa katoa "fiefia" tangata

Pāhiri Syndrome, mohiotia i roto i porowhita pūtaiao syndrome Angelman, he māuiuitanga neuro-ira āhuatanga e te i te whanaketanga roa o ngā tawhā hinengaro, me te tinana o te tangata, i roto i te ofatiraa o te aratau moe me te 'ā'ā, hukihuki, nekehanga ohorere, me te Horehore o nga wahi. Ki te mata tangata e kore e waiho te ataata, kata ia tonu mo e kore take, a ka titiro ta'efakangatangata hari. He nui ake ano he pakipaki, pakipaki nekehanga Whitiki. hoki i huaina Pāhiri Syndrome Syndrome hurio hari, rite whai iwi mate te ahua o te tamapua, ki te ataata tamau i runga i tona mata me te ringa aitua, auau iti, piko i te whatīanga - whanui o te huruhuru rite te karetao karetao, kua whakahaeretia e te puppeteer nga aho o nei.

Hoki te wā tuatahi whakaahuatia tenei māuiuitanga iranga i roto i 1965 e Dr. Harry Angelmanom tākuta tamariki, e whanga ana e toru tamariki hauā pāngia e tenei mate. Ko te wā tuatahi i huaina e ia ko ana tūroro "karetao tamariki." puta te whakahua i muri o te mate i roto i te US i te tīmatanga o te 80. Pāhiri Syndrome - he mate tika noa. Ko te auau o tona takanga i runga i te raraunga tauanga o Washington University (USA) ko 1: 20,000 hou.

Ira meinga syndrome Angelman e te kore o te maha ira i pūira 15. I roto i ētahi wā, mukunga te kanohi, arā, te mate o te ira rohe, ranei irakētanga o te pūira somatic 15. Ko te tikanga ka pā te pūira whaea, haere nei te i whaea ki kukune. Otiia hoki e taea te pakaru i te reira e te tona papa, i roto i nei take mohiotia te mate te rite Prader-Monika syndrome. Ko te karyotype o te tangata schematically denoted rite XX 46 XY, 15r- ranei. āhuatanga koha pūira noa e te ngaro o te wāhi nui pātata o te tau nui (ki runga, ki te 3-4 miriona) takirua o turanga DNA i roto i te rohe wahi q11-q13 15 th pūira. rangahau motuhake whakakitea nga take o enei huringa mutational meinga e huringa mutational i roto i te ira UBE3A. Ko te hua o tenei ira ko te wähanga paru o te pūnaha matatini o pūmua kinonga. Ka taea e Pāhiri tātari i te syndrome i tātari ira.

Tamariki e mate ana i te mate Angelman i roto i te tamarikitanga i raruraru ki te kai, ina koa i roto i te aruaruraa wawe, e kore e riro ratou taimaha. A iti i muri mai, kia kite koe i te roa i roto i te whanaketanga pūkaha o te pūkenga whānui tamaiti, i te mea rawa mutunga ki te timata ki te noho me te haere. He he he kino, kupu rawakore. E nui atu mōhio ēnei tamariki atu ratou e taea te kōrero faaite i roto i nga kupu ranei.

I te tau kura, i reira e nui fifi ki te whakangungu o te hunga e pāngia ki Pāhiri syndrome, ka taea e enei takatu te pānui i ki te uaua nui. He tino ta'etokanga, me te pahara, ratou. Haurangi me nekehanga rerekē, i ngā, faaati pai, me nekehanga huru o wahi, kata auau mō kore take wehewehe i ēnei tamariki. kite tūroro i te kiwi e āhuatanga - stiffly. Ko reira no te mea o tenei āhuatanga, kua karangatia e ratou hurio. whai hoki ratou i te matenga iti ki te paku papatahi hoki o te matenga, mangai whanui, kauwae nui, āputa nui i waenganui i nga niho, me te kohuki arero. I tua atu, hawhe o nga tūroro i strabismus, scoliosis me te tūtohutanga ki te pāmahana piki.

Pāhiri Syndrome tēnei wā kua kore maimoatanga motuhake, engari ki te whakapai ake ko te taea te kounga o te ora o te tūroro ki te te awhina o te maha mehua whakaora. Tamariki te mahi mirimiri, noho i tua. I kōhungahunga tau tamariki whai wāhi kaihaumanu reo me Pathologists kupu. Hei haerenga i te moe whakaritea ia moe ngāwari. haurangi haurangi e tukinotia ki anticonvulsants. E mea pinepine, e whakaako tamariki reo tohu.

He pea atu ki te pā mau tamaroa te pāhiri syndrome, engari e te hema ki tenei mate hoki ngā kōtiro. I roto i te mahi hauora, te take o te hapūtanga o te wahine ki te syndrome karetao hari, e hoatu whanau ki te kotiro, rawa, "fiefia." Anake te utu o taua oaoa i roto i te tūroro tangata he tiketike mīharo ...