Parsley syndrome - lesi sifo ngaso sonke isikhathi 'bejabula' umuntu

Parsley Syndrome, eyaziwa emibuthanweni yesayensi syndrome Angelman, a zokugula Neuro-zofuzo libhekene nokuthuthukiswa imisiwe nemingcele nabanengqondo futhi ezingokomzimba, yephula i izindlela ubuthongo futhi sihlale siphapheme, ukuquleka, ukunyakaza kungazelelwe futhi abathathela yezingalo nemilenze. Nge UBUSO bomuntu akabashiyi ukumamatheka, wayehlale uyahleka ngaphandle kwesizathu, futhi ubukeka ngendlela engachazeki bajabule. Ingalo ukunyakaza zifana ihlombe, ihlombe. Syndrome parsley futhi ngokuthi syndrome emaphaphethi ajabule, njengoba abantu abagulayo abe uhlobo unodoli, emomotheka njalo ngobuso encane njalo ukudikiza izandla, izimisele endololwaneni - ububanzi unwele sika njengoba emaphaphethi, amayunithi wezinhlamvu zazo ezisetshenziswa puppeteer.

Ngokokuqala ngqá leli zokugula zofuzo kwachazwa 1965 nguDkt Harry Angelmanom wezingane, owayegade izingane ezintathu ekhubazekile ehlaselwe lesi sifo. Kwakuwusuku okokuqala futhi iziguli zakhe ngokuthi "unodoli izingane." Kamuva lapho kukhulunywa sifo uvele US in the 80s ekuseni. Parsley Syndrome - isifo lalivamile. Imvamisa ivela khona idatha lezibalo Washington University (USA) 1: 20,000 izinsana.

Okushintshwe Angelman syndrome ibangelwa yokuntuleka zezakhi zofuzo eziningana ezivela chromosome 15. Kwezinye izimo, ukususwa ngokwengxenye, okungukuthi ukulahlekelwa isakhi sofuzo esifundeni, noma ngokuguqula izakhi 15 chromosome ukuphathwa kwabathintwayo. Ngokuvamile kuthinta chromosome kwabakhulelwe, okuyinto kudlule kusuka kumama kuya-fetus. Kodwa kungase futhi kube kabana kayise, kuleso simo lesi sifo njengoba Prader-Willi syndrome ezaziwayo. I karyotype womuntu schematically ezikhonjiswe njengoba XX noma 46 XY, 15r-. Okuzenzekelayo chromosomal isici libhekene ukungabi khona endaweni enkulu ohlanganisa inombolo enkulu (kufika ku 3-4 wezigidi) ngazimbili elisekela DNA esifundeni q11-q13 izingxenye 15 th-chromosome. izifundo Independent embule izimbangela yalezi zinguquko mutational kubangelwa izinguquko mutational e UBE3A zofuzo. Umkhiqizo yilesi sakhi iyona ingxenye enzyme of kwakha isimiso esiyinkimbinkimbi amaprotheni nokucekelwa. Parsley ungakwazi ukuxilonga syndrome ukuhlaziywa kwezakhi zofuzo.

Izingane abaphethwe isifo Angelman ebuntwaneni unezinkinga ukudla, ikakhulukazi ekuqaleni kuka ebuntwaneni, abazi isisindo. Ngemva nje kancane kwalokho, ungase uphawule ukubambezeleka ukuthuthukiswa motor wengane amakhono jikelele, okuyinto Sekuhlwe kakhulu ukuqala ukuhlala ukuhamba. Kukhona okubi, inkulumo engezwakali. Lezi zingane ziyizisulu uyazi kakhulu kunalokho ungakhuluma noma ukuyiveza ngamazwi.

Lapho ngineminyaka engu-esikoleni, kukhona ubunzima obukhulu nokuqeqesha kwabo labo uxilongwe parsley syndrome, lezi guys Ungafunda lula. Ziyakwazi ongatjhejisisiko kakhulu futhi zibulawa ukuqina. Isifo sokuwa nokunyakaza engavamile, ngokukhethekile, eliqhaqhazelayo esihle, nokunyakaza kunezinxushunxushu kwamalungu omzimba, uhleko njalo ngaphandle kwesizathu ukuhlukanisa lezi zingane. Iziguli yabukela Gait isici - ivukuza. Kungenxa yokuthi kulesi sici, bebizwa emaphaphethi. nazo ziba ikhanda elincane nge kancane isicaba ngemuva ekhanda, umlomo, isilevu ovelele, izikhala ezinkulu phakathi kwamazinyo aso kanye nolimi ophumile. Ngaphezu kwalokho, ingxenye iziguli strabismus, ukugobeka komhlandla nokuzwela lokushisa aphakeme.

Parsley Syndrome okwamanje alinayo ukwelashwa othize, kodwa ukuthuthukisa izinga lempilo iziguli kungenzeka ngosizo izinyathelo eziningana zokwelapha. Izinsana ukwenza massage, ukuchitha Physiotherapy. Ngezinye zasenkulisa yobudala izingane abathintekayo inkulumo abelaphi futhi inkulumo pathologists. Ukuze kulesetayelekile ubuthongo wagunyaza elele lula. zesifo sokuwa iphathwa anticonvulsants. Ngokuvamile, izingane zifundiswa ngolimi lwezandla.

Parsley syndrome, maningi amathuba okuba nomthelela abafana, kodwa amantombazane futhi singangena kule sifo. Zokwelapha, lo Ngaphakathi mo of khulelwa yowesifazane ojabulayo upopayi syndrome, Lowo okuzala ngezinhlungu zokubeletha intombazane, futhi, "bayajabula." intengo injabulo enjalo ezigulini womuntu kuphela Liyindawo okusezingeni eliphezulu ...