Dhir syndrome - Cudurka had iyo jeer waa "faraxsan" qof

Dhir Syndrome, loo yaqaan ee wareegyada sayniska syndrome Angelman, cudurada a neuro-hidde in lagu gartaa horumarinta dib u argument caqliga iyo jirka qofka, xadgudub ku ah qaabab hurdo iyo xillo, qalal, dhaqdhaqaaqa lama filaan ah oo goosgoos ee addimmada waxay aad. Iyada oo wejiga aadanaha uusan ka tagin dhoola, wuxuu had iyo jeer ku qoslaa aan sabab lahayn, oo u muuqdo Rowan ku faraxsanahay. dhaqdhaqaaqa Gacan ku badan yihiin sida sacab, Sacabbo Tumid. Dhir Syndrome sidoo kale loo yaqaan Syndrome murtad ayaa ku faraxsan yahay, sida dadka buka ay leeyihiin nooc ka mid ah caruusada, isagoo dhoolacadeynaya joogto ah oo wejiga iyo gacmaha shimbirka soo noqnoqda yar, qaloocsan tahay xagasha - tin ah sida puppet puppet ah, ee xadhig ah kuwaas oo ku shaqeeya by puppeteer ah.

Waayo, markii ugu horeysay tan cudurada hidaha lagu tilmaamay in 1965 by dhakhtarka carruurta Dr. Harry Angelmanom, kuwaas oo daawaday saddex carruur ah oo naafo ah by cudurka this saameeyeen. Waxa ay ahayd markii ugu horeysay isaga iyo bukaanka wuxuu ugu yeedhay "carruurta puppet." Xusuuso The dambe ee cudurka muuqday Maraykanka ee 80s hore. Dhir Syndrome - cudur si caddaalad ah wax caadi ah. inta jeer ee ay dhacdo on tirakoobka ee xogta of University Washington (USA) waa 1: 20,000 dhalatay.

Hiddaha Angelman syndrome waxaa keena la'aan ah dhowr hiddo-ka koromosoom 15. Xaaladaha qaarkood, tirtirka qayb ahaan, sida khasaaraha ka mid ah gobolka hiddo, ama isbedel ah ee koromosoom 15aad degaaankaaga. Sida caadiga ah saamayn ku koromosoom hooyada, kaas oo la maray hooyada in ilmaha caloosha ku. Laakiin sidoo kale waxaa dhaawici karo aabbihiis, taasoo cudurka loo yaqaan Prader-Willi syndrome. karyotype ee aadanaha schematically muujinaysaa sida XX ama 46 xy, 15r-. iin koromosoomyada lama filaan ah waxa lagu gartaa maqnaanshaha aag aad u ballaaran jiidda of tiro badan oo (ilaa 3-4 milyan) lammaane oo saldhig DNA ee qaybo Q11-Q13 gobolka 15 th koromosoomyada. waxbarashada Independent Muujin sababaha ka mid ah isbedel mutational sababa isbedel mutational in hiddo-UBE3A. wax soo saarka ee hiddo tani waa qayb enzyme nidaam adag oo ah borotiinada nabaad-ka. Dhir aqoonsan karaa syndrome by falanqaynta hidaha.

Caruurta qaba cudurka Angelman ee carruurnimada qabto dhibaatooyin cunto, gaar ahaan yaraantaadii hore, iyagu ma ay helaan miisaanka. Wax yar ka dib, waxaad ka ogaan kartaa dib u dhac ah ee horumarinta motor ka mid ah xirfadaha guud ee ilmaha, taas oo ah mid aad u soo daahay in ay bilaabaan inay ku fadhiisan oo soco. Waxaa xun, hadalka dadka saboolka ah. Carruurtan ka badan ayaa ka war waa ka badan ay kala hadli kartaa ama muujiyaan in erayada.

At da'da iskuulka, waxaa jira dhibaatooyin badan oo la siiyay tababar ah kuwa lagu helay dhir syndrome, guys, kuwaas oo ka akhrisan kartaa dhib weyn. Waxay aad u hurdaan iyo hyperactive yihiin. Qalalka iyo dhaqdhaqaaqyo aan caadi ahayn, gaar ahaan, gariirka wanaagsan, iyo dhaqdhaqaaqa qasan ee addimada, qosol joogto ah sabab la'aan la kala saaro carruurta. Bukaan-socodka arkay wiiqmin sifo - stiffly. Waa sababta oo ah habkaani, waxaa loo yaqaannaa murtad. sidoo kale waxay leeyihiin madaxa a yar oo leh wax yar ka dib of madaxa, afka ballaadhan, garka caan ah, nusqaamaha waaweyn ee ilkaha iyo carrabka ridday dhexeeya simay. Intaa waxaa dheer, nus ka mid ah bukaannada ku leeyihiin strabismus, qalooca iyo dareen in heerkulka sare.

Dhir Syndrome hadda ma laha daaweyn gaar ah, laakiin si loo hagaajiyo tayada nolosha bukaannada waxaa suurtagal ah iyadoo la kaashanayo tallaabooyin dhowr ah ku daweyn. Dhallaanka sameeyo massage, ku qaataan daaweynta dabiiciga ah. Ugu carruurta da'da dugsiga ku lug hadal daaweynta iyo cudurada hadalka. Si caadi hurdo uu qoray hurdada fudud. suuxdintu, waxa lagu daweeyaa anticonvulsants. Inta badan, caruurta waxaa la baraa luqadda dhegoolaha ee calaamadaha.

Dhir syndrome u badan tahay inay saamayn wiilasha, laakiin gabdhaha ayaa sidoo kale u nugul cudurkan. In dhaqanka caafimaad, in ay dhacdo uur naag la a syndrome puppet ku faraxsan yahay, kuwaas oo u dhashay gabar, sidoo kale, "faraxsanahay." qiimaha farxad sida in bukaanka aadanaha oo kaliya waa cajiib ah sare ...