Christianson Syndrome ni iki? Ese twavuga kuri iyi ndwara idakunze kugaragara mu ngirabuzimafatizo?

Ese wigeze wibaza niba umwana wawe afite ikibazo cyo kudakura neza? Cyangwa bisa nkaho afite ikibazo cyo kugenda cyangwa kuvuga? Hari igihe ibi bimenyetso bishobora guterwa n'indwara idakunze kugaragara mu ngirabuzimafatizo. Uyu munsi tugiye kuvuga ku ndwara idakunze kugaragara ariko y'ingenzi ugomba kumenya. Yitwa Christianson Syndrome. Ntugahangayike, ni ngombwa cyane kubimenya.

Indwara ya Christianson Syndrome ni iki?

Muri make, indwara ya Christianson Syndrome ni indwara idakunze kugaragara cyane, ni ukuvuga idakunze kugaragara cyane. Ibi bigira ingaruka cyane ku mikorere y'ubwonko bwacu. Tekereza nawe, uburyo bw'ubwonko ni bwo buryo bw'ingenzi bwohereza ubutumwa mu mubiri wacu kandi bugagenzura ibikorwa byose. Rero iyo ibi bibayeho, ibintu nko kugenda no kuvuga bishobora guhungabana. Abantu bafite iyi ndwara bagira ibibazo byo gukura cyangwa ubumuga bwo mu mutwe. Akenshi, ibi bimenyetso bitangira kugaragara mu bwana.

Ni nde wibasirwa cyane n'iki kibazo? Kuki gisa nkaho kigira ingaruka ku bahungu gusa?

Noneho reba, iyi ndwara yitwa Christianson Syndrome igaragara cyane mu bahungu . Hari impamvu yihariye ibitera. Ni "indwara y'uturemangingo ifitanye isano na X", bivuze ko iterwa n'inenge y'uturemangingo ifitanye isano na chromosome ya X.

Twese dufite utuntu duto twitwa chromosomes mu turemangingo twacu tubika amakuru yerekeye imiterere y’uturemangingo. Abagore bafite chromosomes ebyiri za X (XX), naho abagabo bafite chromosome imwe ya X na chromosome imwe ya Y (XY).

Rero, nubwo umugore yaba afite gene mutation ya Christiansen syndrome kuri chromosome X imwe, ariko indi chromosome X nzima ntabwo itera ibimenyetso. Ishobora kuba ari yo itera iyi ndwara. Ibyo bivuze ko afite gene yayo nubwo adafite iyo ndwara.

Ariko niba umugabo afite iyi mihindagurikire ya gene kuri chromosome X ye yonyine, nta kabuza azagaragaza ibimenyetso kuko adafite chromosome X nzima yo gukora akazi. Kugira ngo umugore agire iyi ndwara, agomba kuba afite iyi mihindagurikire kuri chromosome X zombi. Ibyo ni gake cyane, bivuze ko amahirwe yo kuba yabaho ari make cyane.

Indwara ya Christianson Syndrome ikunze kugaragara mu rugero rungana iki?

Mu by’ukuri, biragoye kuvuga neza uburyo ibi bikunze kugaragara ukurikije imibare. Kuko ni indwara idakunze kugaragara. Abaganga bavuga ko ari indwara idakunze kugaragara cyane .Ni indwara idakunze kugaragara. Hari abavuga ko umuhungu umwe kuri 600 ufite ubumuga bwo mu mutwe bufitanye isano na X ashobora kuba afite iyi ndwara. Ubundi bushakashatsi bwagaragaje ko Christianson Syndrome igaragara mu miryango imwe kuri 100 ifite umwana ufite ubumuga bwo mu mutwe bufitanye isano na X. None se, urabona ukuntu ibi bidakunze kugaragara, si byo?

Ni ibihe bimenyetso by'indwara ya Christianson?

Noneho reka turebe ibimenyetso umuhungu urwaye indwara ya Christianson Syndrome agaragaza. Ushobora kubona bimwe muri ibi cyangwa byose. Si buri mwana uzagira ibimenyetso byose, kandi ibyo ni ibintu ugomba kuzirikana.

Ibintu by'ingenzi bikunze kugaragara ni ibi bikurikira:

• Ibibazo byo kugenda no kuringaniza (ataxia): Ibi bivuze ko bigoye kugumana kuringaniza, kandi ushobora kumva udakomeye cyangwa udakomeye mu gihe ugenda.
• Igicuri: Ibi bivuze ko indwara nk'iz'igicuri zishobora kubaho. Ibi ni ugutakaza ubwenge no gucika intege mu buryo butunguranye.
• Ibibazo by'amaso: Urugero, strabismus, cyangwa nk'uko tubivuga, 'amaso yashyizwe ku ruhande', ni indwara nk'iyo.
• Kudashobora kuvuga cyangwa ingorane zikomeye: Kugorwa no kuvuga amagambo, cyangwa se kudashobora kuvuga na gato, cyangwa kuvuga bishobora kuba bike cyane.
• Ubumuga bwo mu mutwe: Hashobora kubaho ubushobozi buke bwo kwiga, gusobanukirwa, n'ibindi. Urugero rw'ibi rushobora gutandukana bitewe n'umuntu ku giti cye.
• Microcephaly: Umutwe ushobora kuba muto kuruta ibisanzwe. Ibi bipimirwa ukurikije imyaka y'umwana n'igitsina cye.

Uretse ibi, hari n'ibindi bintu bishobora kugaragara:

• Indwara ya Autism: Ibimenyetso nko kudashaka kwifatanya n'abandi, kubana n'abandi, no gusubiramo imyitwarire.
• Kugabanuka kw'ubwonko: Igice cy'ubwonko bwacu kigenzura kuringaniza no kugenda, cyitwa cerebellum, gishobora kureka gukura cyangwa kugabanuka.
• Ibibazo by'igogora: Urugero, indwara nka gastroesophageal reflux disease (GERD), itera ibimenyetso nko kuribwa mu gifu no kongera gushyukwa.
• Kubura ubushobozi bwo kugenda: Ushobora kuba ushobora kugenda mbere, ariko uko igihe kigenda, ubwo bushobozi bushobora kugabanuka cyangwa bukanashira. Ibi byitwa 'regression' .
• Intege nke z'imitsi (hypotonia): Umubiri ushobora kumva urembye kandi urembye, nk'igipupe cya rubber.
• Kugabanya ibiro cyangwa kugabanya uburebure:Ushobora kugabanya ibiro n'uburebure bikwiranye n'imyaka yawe. Ibyo bivuze ko imikurire yawe ishobora kugabanuka.

Igitangaje cyane ni uko abana barwaye indwara ya Christianson Syndrome rimwe na rimwe bagaragaza ibimenyetso bisa n'iby'abana bafite indi ndwara yitwa Angelman syndrome, nko kugaragara nk'abishimye nta mpamvu no guhora bamwenyura.

Nkuko byavuzwe mbere, abagore bafite iyi mihindagurikire y’uturemangingo, ni ukuvuga abayifite, bashobora kugira ubumuga bwo kwiga, ariko ntibakunze kugira ibindi bimenyetso bikomeye abahungu bagira.

Ni iki gitera indwara ya Christianson?

Iyo turebye impamvu y'ibi, Christianson Syndrome ni indwara iterwa n'uturemangingo . Ni ukuvuga ko iterwa n'impinduka cyangwa impinduka muri gene. Mu by'ukuri, iterwa n'impinduka muri gene yitwa SLC9A6 kuri chromosome ya X.

Iyi mihindagurikire y’uturemangingo ikomoka ku babyeyi ku bana. Kenshi na kenshi, ababyeyi banduza abana babo iyi mihindagurikire ni bo batwara iyi ndwara. Ibi bivuze ko nubwo bafite iyi mihindagurikire mu turemangingo twabo, batagaragaza ibimenyetso.

Iyi ndwara ipimwa ite?

Iyo umuganga agusanze cyangwa umwana wawe, ashobora gukeka ko ari indwara ya Christianson Syndrome niba afite kimwe mu bimenyetso twavuze mbere.

Tekereza, Kasun muto yavutse nk'abandi bana bato. Ariko buhoro buhoro, ababyeyi be babonye ko Kasun yari mukuru gato kurusha abandi bana. Yatinze gufata ijosi rye neza, atinze kuzunguruka, kandi atinze kwicara. Hanyuma, iyo yatangiraga kugenda, yagwaga kenshi, nk'aho nta kuringaniza afite. Yatangiye kandi kuvuga atinze cyane, ariko amagambo ye ntiyari yumvikana neza. Amaze gutangira kujya ku ishuri, yagorwaga no gusobanukirwa amasomo. Ni igihe yamwerekaga kwa muganga, wakoze ibizamini bitandukanye maze avumbura indwara yitwa Christianson Syndrome.

Kugira ngo byemezwe, cyangwa ngo byemezwe, hakorwa ikizamini cyihariye cy'amaraso . Iki kizamini cy'amaraso gikoreshwa mu kumenya niba hari impinduka muri gene yitwa SLC9A6. Ibi byitwa ikizamini cy'imiterere y'umubiri .

Ni ubuhe buryo bwo kuvura indwara ya Christianson Syndrome?

Ikibazo abantu benshi bibaza ni ukumenya niba hari umuti ufatika w’iki kibazo. Mu by’ukuri, nta muti uraboneka kugeza ubu. Ariko, ibyo ntibikwiye kuguca intege. Hari uburyo bwinshi bwo kuvura bushobora gufasha mu kugenzura ibimenyetso no kunoza imibereho y’umwana n’umuryango.

Gahunda yo kuvura yawe cyangwa umwana wawe ishobora kuba ikubiyemo:

• Uburyo bwo kuvura ibibazo by'amaso: ibintu nk'indorerwamo, ndetse wenda no kubagwa kugira ngo hakosorwe uburyo bwo gucika intege kw'amaso (strabismus).
• Gahunda z'uburezi bw'umuntu ku giti cye (IEPs): Gufasha abana bafite ubumuga bwo mu mutwe cyangwa kwiga kwiga mu buryo bubanogeye.
• Imiti igabanya igicuri: Imiti itangwa n'abaganga kugira ngo igabanye inshuro n'ubukana bw'igicuri.
• Ubuvuzi bw'umubiri: Ibi bifasha cyane mu kunoza imbaraga z'umubiri, imitsi, ubushobozi bwo kugenda, no kuringaniza umubiri.
• Ubuvuzi bwo kuvuga: Bunoza ubuhanga mu rurimi no mu itumanaho. Bushobora kandi kwigisha ubundi buryo bwo kuvugana n'abatazi kuvuga.
• Ubuvuzi bw'akazi: Bufasha mu mirimo ya buri munsi nko kwambara, kurya, n'indi mirimo ya buri munsi.

Ibi byose bikorwa kugira ngo umwana agire ubuzima bwiza bushoboka.

Ese indwara ya Christianson syndrome ishobora kwirindwa?

Mu by’ukuri, nta buryo bwo kwirinda Christianson Syndrome cyangwa impinduka mu ngirabuzimafatizo ziyitera, kuko ari imiterere y’uturemangingo.

Ariko, niba ukeka ko ushobora kuba ufite iyi ndwara, cyangwa niba hari umuntu wo mu muryango wawe ufite iyi ndwara, ushobora gukorerwa isuzuma ry’uturemangingo .

Iki kizamini cy’uturemangingo kigamije gufata icyitegererezo cy’amaraso yawe no gushaka impinduka zimwe na zimwe mu ngirabuzimafatizo. Umujyanama mu by’uturemangingo azagusobanurira ibisubizo by’ikizamini. Bazagufasha gusobanukirwa ingaruka z’izi mpinduka n’uburyo ushobora kubyara umwana ufite indwara ya Christianson Syndrome. Ibi bishobora kuba ingenzi cyane kubimenya mbere yo gushinga umuryango cyangwa kubyara undi mwana.

Ubuzima buzaba bumeze bute muri iki kibazo? (Icyizere)

Iyo abantu bafite indwara ya Christianson Syndrome bafashwe neza, nko kuvura indwara z’umubiri no kuvuga, bashobora kubaho ubuzima bwiza . Bashobora gukora uko bashoboye kose.

Kubera ko ubushakashatsi kuri iyi ndwara bugikomeje, nta makuru nyayo ku mibereho y’umuntu. Ariko, mu bihe byinshi, abantu barwaye iyi ndwara babaho ubuzima busanzwe. Ariko, rimwe na rimwe indwara yitwa 'regression' ishobora kugaragara, bivuze ko ubushobozi bwari busanzwe bugabanuka. Urugero, ubushobozi bwo kuvuga cyangwa kugenda bushobora kuba bwiza igihe runaka, ariko bukongera bukagabanuka. Ni byiza kuganira n'abaganga bawe ku bintu nk'ibyo kandi ukitegura guhangana na byo.

Ni ibihe bibazo ugomba kubaza muganga?

Niba ukeka ko wowe cyangwa umwana wawe mufite indwara ya Christianson Syndrome, cyangwa niba mwarasanzwe murwaye iyi ndwara, mushobora kubaza muganga wanyu ibi bibazo. Ntutinye kubaza ikintu cyose kiri mu mutima wanyu.

• Ni ibihe bipimo bikoreshwa mu gusuzuma indwara ya Christianson Syndrome?
• Impamvu nyayo y'ibi ni iyihe? Ese ni ikibazo kiri mu ngirabuzimafatizo zanjye?
• Ni ubuhe buryo bwo kuvura ibi? Ni ubuhe buryo bwiza ku mwana wanjye?
• Ni iki nakora mu rugo kugira ngo umwana wanjye ufite indwara ya Christianson Syndrome arusheho kugira ubuzima bwiza?
• Ni amahirwe angahe ko abandi bana banjye, cyangwa abana banjye bazavuka, bazaragwa iyi ndwara?
• Ni izihe nzego n'amatsinda y'ubufasha dushobora kwitabaza kugira ngo tubafashe muri iki kibazo?

Reka twibuke izi ngingo (Ubutumwa bwo kujyana mu rugo)

• Indwara ya Christianson ni indwara idakunze kugaragara mu buryo bw'uturemangingo .
• Ibi bigira ingaruka cyane cyane ku mitsi, bigatera ingorane zo kugenda no kuvuga .
• Ubumuga bwo mu mutwe bukunze kugaragara.
• Iyi ndwara yibasira cyane abahungu (X-linked).
• Nubwo nta muti wihariye uhari, hari uburyo butandukanye bwo kuvura bushobora kugenzura ibimenyetso no kunoza ubuzima.

Niba wowe cyangwa umwana wawe mufite kimwe muri ibi bimenyetso, icyiza cyo gukora ni ukudatinya, ahubwo ni ukujya kwa muganga vuba bishoboka. Wibuke ko nturi wenyine muri uru rugendo, kandi gusaba ubufasha no kumenyeshwa bizagufasha guhangana neza n'iki kibazo.

Indwara ya Christianson , Indwara z'uturemangingo, Uduce tw'imitsi, X-linked, Ubumuga bwo mu mutwe, Igicuri, Gutinda mu mikurire