Parsley syndrome - isifo usoloko umntu 'banoyolo "

Parsley Syndrome, eyaziwa kwizangqa zenzululwazi syndrome Angelman, a neuro-yemfuza ngezifo ukuba luphawulwa kuphuhliso ilibasiza parameters yengqondo neyomzimba somntu, besaphula ngeendlela zokulala kunye kuvukwe, ukuxhuzula, iintshukumo ze imilenze ngequbuliso kunye ngqiqweni. Ne ubuso babantu angazishiyi uncumo, usoloko ehleka kungekho sizathu, kwaye ibonakala onwabile anengqondo. iintshukumo ingalo kufana ngokuqhwaba, ukuqhwaba. Parsley Syndrome kwakhona ngokuba Syndrome onopopi bonwabile, njengokuba abantu abagulayo kufuneka uhlobo unodoli, ngoncumo rhoqo ebusweni bakhe twitching izandla ezincinane rhoqo, waguqa kwi engqinibeni - zaba noboya njengoko unopopi kunopopi, ekubetheni ezo ezingaqhutywa ngumbutho woonopopi.

Kuba okokuqala le ngezifo yemfuza kuchazwa 1965 nguGqirha uHarry Angelmanom udokotela, wayegcine abantwana abakhubazekileyo ezintathu bachatshazelwa sesi sifo. Yayilixesha yokuqala kunye nezigulane bakhe ngokuba "unopopi abantwana." I kamva ukukhankanywa esi sifo Wabonakala US kwi 80s ekuqaleni. Parsley Syndrome - isifo eliqhelekileyo. Njalo livela kwiinkcukacha manani ze Washington University (USA) ngu-1: 20,000 kubelekwa.

Zemfuza Angelman syndrome kubangelwa kukungabikho zijini ezininzi ukusuka chromosome 15. Kwezinye iimeko, nokususa buso, okt ilahleko lommandla gene, wezakhi le chromosome 15 somatic. Ngokuqhelekileyo luchaphazela chromosome koomama, nto leyo ithe yadluliselwa ukusuka kumama isiya kusana olungekazalwa. Kodwa iyonakala bakhe uyise, kwimeko apho sifo eyaziwa ngokuba Prader-uWilli syndrome. Le karyotype kwabantu ngokwalo zibonakaliswe njenge XX okanye 46 XY, 15r-. Okuzenzekelayo chromosomal isiphako luphawulwa kukungabikho indawo enkulu kunayo yenani elikhulu (ukuya ku 3-4 million) izibini neziseko DNA kwingingqi izabelo q11-q13 15 th chromosome. izifundo ezizimeleyo zibonisa oonobangela olu tshintsho mutational okubangelwa utshintsho mutational kwi UBE3A zofuzo. Imveliso yalo isakhi candelo enzyme i inkqubo oluntsonkothileyo iiprotheni nokuthotywa. Parsley ukwazi ukuhlola syndrome yi uhlalutyo yemfuza.

Abantwana abaphethwe zizifo Angelman ebuntwaneni abanengxaki yokutya, ingakumbi ebuntwaneni ekuqaleni abenzi, bafumane ubunzima. Kungekudala emva koko, usenokuba uqaphele ukulibaziseka kuphuhliso motor izakhono jikelele umntwana, apho emva kwexesha kakhulu ukuze uqalise ukuhlala uhambe. Kukho embi, intetho kakuhle. Aba bantwana bazi kakhulu ngaphezu kokuba uyakwazi ukuthetha okanye ukuvakalisa ngamazwi.

Xa isikolo, kukho ubunzima obukhulu kunye noqeqesho kwabo kwafunyaniswa parsley syndrome, ezi guys uyakwazi ukufunda kunye ubunzima obukhulu. Ba mela kakhulu kwaye ukuqina. Sokuwa kunye neentshukumo ezingaqhelekanga, ingakumbi, lafa ocoliweyo, kunye neentshukumo ingalawuleki amalungu omzimba, ukuhleka rhoqo ngaphandle kwesizathu ukwahlula aba bantwana. Izigulane waphawula iqinelwa uphawu - stiffly. Kungenxa yale msebenzi, zibizwa ngokuba iphaphethi. nayo intloko encinane atshabalalisa emva lasentloko, umlomo, isilevu abadumileyo, izikhewu ezinkulu phakathi kwamazinyo kunye nolwimi eveleleyo kancinci. Ngaphezu koko, isiqingatha izigulane strabismus, zokufota novakalelo lobushushu eziphakamileyo.

Parsley Syndrome njengangoku akukho zonyango ezithile, kodwa ukuphucula umgangatho wobomi izigulane kuba kunokwenzeka ngoncedo amanyathelo aliqela zonyango. Iintsana ukwenza massage, chitha ukuyifundisa. Xa abantwana yobudala uthole inxaxheba iingcali zononophelo lwempilo yokuthetha kunye pathologists ntetho. Bunjani ubuthongo azimiselweyo lula nilele. sokuwa iphathwa anticonvulsants. Ngokuqhelekileyo, abantwana bafundiswa ngolwimi lwezandla.

Parsley syndrome badla ukuchaphazela amakhwenkwe, kodwa amantombazana kwakhona kalula lo sifo. Xa yezonyango, kwimeko ukukhulelwa ye kweza kuye umfazi enehlala syndrome iphaphethi abonwabileyo, lowo wazala intombi, kakhulu, "banoyolo." Kuphela ixabiso ulonwabo olunjalo abantu abagulayo aku- phezulu ...