Phelan-McDermid Syndrome inopa sechirwere "chisingawanzoitiki" uye inosanganiswa nehurema hwepfungwa kana kusagadzikana neatism. Chirwere ichi chinobata pakati pevanhu zviuru zviviri nemazana mashanu kusvika zviuru zvishanu muSpain, tichiziva kuti vazhinji vakawanikwa muzvipatara neboka revanyanzvi.
Chelan McDermind Syndrome chirwere chingango zivikanwa uye chakaoma kuongorora Mukutanga kwavo kutarisa-kumusoro, chete aya mazvikokota, kuburikidza nemayedzo akasiyana siyana uye anoteedzana ezvekurapa kurapwa, vanosvika pane izvi kuongororwa. Iko kusakanganisika kukuru kunoitika ndiko kuchinjika kwechromosome 22 uye mumwana mumwe nemumwe inokura zvakasiyana.
Chii chinonzi Phelan-McDermid Syndrome?
Ichi chirwere chinozivikanwa ne shanduko yekromosomu 22q13 inokonzerwa mune dzakawanda kesi ne kusavapo kana shanduko yeiyo SHANK3 geni, ine iyo genetic zvinhu inorasika kubva kumagumo echromosome 22.
Kurasikirwa kweiyi genetiki kunoitika panguva yekuparadzaniswa kwesero. Panguva iyo ma chromosomes anofanirwa kuronga uye kuenderana, mamwe acho anotsemuka nekunyangarika. Nzira iyo inoitika iyi maitiro haina hwaro netsananguro yakasimba, kana nhaka.
Phelan-McDermid main hunhu
Nekushayikwa kweiyo SHANK3 geni, vana vazhinji vanokura hypotonia, yakaderera mhasuru toni uye wozove nayo kunonoka munzvimbo yeiyo neurodevelopment, zvichikanganisa vazhinji vavo mumutauro. Vazhinji vavo vane autism.
Kukura kwayo mukati mematanho ese kunoitika nekunonoka uye sekutaura kwatakaita kune kusavapo kwekutaura kana kunonoka mukuitwa kwayo. Njere dzako dzinozokudziridza kunonoka.
Muhunhu hwavo hwepanyama vanogona kuve hunhu hwechirwere ichi, vamwe vanozochinja shanduko uye vangave vakasiyana, vamwe vanogona kuenda vasina kucherechedzwa:
- Munguva yekuvandudzwa kwemitezo yemuviri wako, zvinopfuura makumi manomwe neshanu muzana zvine kukura kusina kujairika kana kukurumidzaMuenzaniso mawoko mahombe uye ane nyama, nzara dzine kukura kwakasiyana, dzinogona kunge dziri diki uye dzakaonda uye nezera dzinova dzakafuta, dzichikura mativi adzo mukati. Yakareba eyelashes uye tsiye dzakakora,
- Mune makumi mashanu muzana ezviitiko ivo vanogona kuunza chimiro chemusoro wakareba uye wakamanikana, ine nzeve hombe uye dzakakurumbira, dzakazvimba uye dzakadonhedza maziso, maziso akanyura, kugadzikana kwepakati, mhino dzakaputika kana zambuko repamhino, rakapinza chirebvu, sacral dimple.
- Vane nzvimbo yekunyanyisa uye vamwe vane kudzikira kwekudikitira mumuviri yavo. Munguva yake yekutambudzika kurwadziwa vane chikumbaridzo chakadzika zvishoma pane zvakajairwa.
- ari kuoma kudya uye kunwa izvo zvakajairika nekuda kwehyponia.
- 15% ine arachnoid cysts (mapundu akazara nemvura anova pamusoro pehuropi).
- Mamwe matambudziko asingawanzoitika asi ehunhu matambudziko ekuona senge strabismus, otitis, lymphedema (kuzvimba kwemaoko nemakumbo), gastroesophageal reflux, matambudziko eitsvo, manyoka asingagumi kana pfari.
Kurapa kwePhelan-McDermid Syndrome
Kuongorora kwako inosimbiswa kutenderedza makore matatu ekuberekwa uye chirwere chisina mushonga. Kunyangwe zvakadaro, kune akasiyana marapirwo uye rubatsiro kuti ugone kutsungirira matambudziko ako uye zvidiki zvakashata matambudziko zuva nezuva.
Kune akakosha nzvimbo dzinogona kuenda kumwana kuitira kuti aende tevedza kukura kwekushanduka maererano nehunhu hwayo. Mukati merudzi urwu rwekusimudzira mune varapi vekutaura, vanhu vane kurapwa kwemitauro, kuiswa kwemutauro wemasaini uye kusimudzira kwekutaurirana semhedzisiro.
Mazhinji ekurapwa uku iwo akavakirwa pakurapa, Pakati pavo pachave nehunyanzvi hwepfungwa, basa, equine kurapa, sensory uye physiotherapist.
Kune mamwe maitiro aanogona kukudziridza, kusanganisira epanyama, zvinoda kurapwa kuti vakwanise kugadzirisa aya maronda zvakanyanya sezvinobvira.