Iyini i-Christianson Syndrome? Singaxoxa ngalesi simo esingavamile sofuzo?

Wake wazibuza ukuthi ingane yakho inokukhubazeka kokukhula? Noma kubonakala sengathi inenkinga yokuhamba noma yokukhuluma? Ngezinye izikhathi lezi zimpawu zingabangelwa yisimo esingavamile sofuzo. Namuhla sizokhuluma ngesimo esingavamile kodwa esibalulekile okufanele usiqaphele. Sibizwa ngokuthi i-Christianson Syndrome. Ungakhathazeki, kubaluleke kakhulu ukuqaphela lokhu.

Iyini i-Christianson Syndrome?

Kalula nje, i-Christianson Syndrome iyisifo esingavamile kakhulu, okungukuthi, esingavamile ukubonwa. Lokhu kuthinta kakhulu uhlelo lwethu lwezinzwa . Cabanga ngakho, uhlelo lwezinzwa luyisistimu eyinhloko edlulisela imiyalezo emzimbeni wethu futhi ilawula zonke izenzo. Ngakho-ke uma lokhu kuthinteka, izinto ezifana nokuhamba nokukhuluma zingaphazamiseka. Abantu abanalesi simo babhekana nokubambezeleka kokukhula noma ukukhubazeka kwengqondo. Esikhathini esiningi, lezi zimpawu ziqala ukuvela ebuntwaneni.

Ubani othinteka kakhulu yilesi simo? Kungani kubonakala sengathi sithinta abafana kuphela?

Bheka manje, lesi sifo esibizwa ngokuthi i-Christianson Syndrome sibonakala kakhulu phakathi kwabafana . Kunesizathu esithile salokho. "Kuyisifo sofuzo esixhumene ne-X", okusho ukuthi sibangelwa yisici sofuzo esihlobene ne-chromosome ye-X.

Sonke sinezinto ezincane ezibizwa ngokuthi ama-chromosome ngaphakathi kwamaseli ethu ezigcina ulwazi lwezakhi zofuzo. Abesifazane banama-chromosome amabili angu-X (XX), kanti amadoda ane-chromosome eyodwa engu-X kanye ne-chromosome eyodwa engu-Y (XY).

Ngakho-ke, noma ngabe owesifazane une-gene mutation ye-Christiansen syndrome kwenye i-chromosome X, kodwa enye i-chromosome X enempilo ngokuvamile ayibangeli izimpawu. Bangaba ngumthwali wesifo. Lokho kusho ukuthi bane-gene yaso yize bengenaso lesi sifo.

Kodwa uma indoda inalolu guquko lwezakhi zofuzo ku-chromosome yayo engu-X kuphela, ngokuqinisekile izoqala izimpawu ngoba ayinayo i-chromosome engu-X enempilo yokwenza lo msebenzi. Ukuze owesifazane abe nalesi sifo, kumele abe nalolu guquko kuzo zombili i-chromosome engu-X. Lokho akuvamile kakhulu, okusho ukuthi amathuba okuba kwenzeke mancane kakhulu.

Ivame kangakanani i-Christianson Syndrome?

Empeleni, kunzima ukusho ukuthi lokhu kuvame kangakanani ngokwezibalo. Ngoba kuyisimo esingavamile kakhulu. Odokotela bathi kuyivelakancane kakhulu .Kuyisimo esingavamile. Ezinye izilinganiso zisikisela ukuthi cishe oyedwa kubafana abangu-600 abanokukhubazeka kwengqondo okuxhumene ne-X angase abe nalesi simo. Olunye ucwaningo luthole ukuthi i-Christianson Syndrome yenzeka cishe emndenini owodwa kwabayi-100 onengane enokukhubazeka kokukhula okuxhumene ne-X. Ngakho-ke, ungabona ukuthi lokhu kuyivelakancane kangakanani, akunjalo?

Ziyini izimpawu ze-Christianson Syndrome?

Kulungile, ake sibone ukuthi yiziphi izimpawu eziboniswa umfana one-Christianson Syndrome. Ungase ubone ezinye noma zonke lezi. Akuzona zonke izingane ezizoba nazo zonke lezi zimpawu, futhi lokho kuyinto okufanele uyikhumbule.

Izici eziyinhloko ezivame ukubonakala yilezi:

• Izinkinga ngokuhamba nokulinganisela (i-ataxia): Lokhu kusho ukuthi kunzima ukugcina ibhalansi, futhi ungase uzizwe ungazinzile noma ungazinzile lapho uhamba.
• Isifo Sokuxhuzula: Lokhu kusho ukuthi izimo ezifana nokuxhuzula zingaba khona. Lokhu kuwukulahlekelwa yingqondo ngokuzumayo kanye nokuxhuzula.
• Izinkinga zamehlo: Isibonelo, i-strabismus, noma njengoba sisho, 'amehlo axubile', yisimo esinjalo.
• Ukungakwazi ukukhuluma noma ubunzima obukhulu: Ubunzima bokukhuluma, noma ukungakwazi ukukhuluma nhlobo, noma ukukhuluma kungase kube kuncane kakhulu.
• Ukukhubazeka kwengqondo: Kungase kube nokuntuleka kwekhono lokufunda, ukuqonda, njll. Izinga lalokhu lingahluka kumuntu nomuntu.
• I-Microcephaly: Ikhanda lingase libe lincane kunokujwayelekile. Lokhu kulinganiswa ngokuphathelene neminyaka yomntwana kanye nobulili bakhe.

Ngaphezu kwalokhu, ezinye izici zingabonakala:

• Isifo se-Autism spectrum: Izimpawu ezinjengokungathandi ukuzibandakanya ekuxhumaneni nabantu, ukusebenzelana nabanye, kanye nokuziphatha okuphindaphindiwe.
• Ukuwohloka kwe-Cerebellar: Ingxenye yobuchopho bethu elawula ibhalansi nokunyakaza, ebizwa ngokuthi i-cerebellum, ingase iyeke ukukhula noma inciphe.
• Izinkinga zesistimu yokugaya ukudla: Isibonelo, izimo ezifana nesifo se-gastroesophageal reflux (GERD), esibangela izimpawu ezifana nesilungulela kanye nokugabha.
• Ukulahlekelwa yikhono lokuhamba: Ungase ukwazi ukuhamba ekuqaleni, kodwa ngokuhamba kwesikhathi, lelo khono lingase linciphe noma linyamalale. Lokhu kubizwa ngokuthi 'ukuhlehla' .
• Ubuthakathaka bemisipha (hypotonia): Umzimba ungase uzizwe ubuthakathaka futhi ubuthakathaka, njengonodoli werabha.
• Ukwehlisa isisindo noma ukwehlisa ubude:Ungase ulahlekelwe isisindo sakho nobude obufanele iminyaka yakho. Lokho kusho ukuthi ukukhula kwakho kungase kuphazamiseke.

Okuxakayo ngempela ukuthi izingane ezine-Christianson Syndrome ngezinye izikhathi zibonisa izimpawu ezifana nezezingane ezinesinye isimo sofuzo esibizwa ngokuthi i-Angelman syndrome, njengokubonakala zijabule ngaphandle kwesizathu nokumomotheka ngaso sonke isikhathi.

Njengoba kushiwo ngaphambili, abesifazane abanalolu shintsho lwezakhi zofuzo, okungukuthi, abathwali balo mkhuhlane, bavame ukuba nezinkinga zokufunda, kodwa abavamile ukuzwa ezinye izimpawu ezinzima abafana abazizwayo.

Yini ebangela i-Christianson Syndrome?

Uma sibheka imbangela yalokhu, i-Christianson Syndrome iyisifo esibangelwa izakhi zofuzo . Okusho ukuthi, sibangelwa ushintsho noma ukuguquka kwezakhi zofuzo. Ukuze sibe neqiniso, sibangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi i-SLC9A6 ku-chromosome X.

Lokhu kuguquka kwezakhi zofuzo kuzuzwe njengefa kubazali kuya ezinganeni. Ezimweni eziningi, abazali abadlulisela lokhu kuguquka ezinganeni zabo bangabathwali balesi sifo. Lokhu kusho ukuthi yize benalolu shintsho ezizakhi zofuzo zabo, ababonisi zimpawu.

Lesi sifo sitholakala kanjani?

Uma udokotela ekubona noma ekubona ingane yakho, angase asole ukuthi i-Christianson Syndrome inezimpawu esixoxe ngazo ekuqaleni.

Cabanga nje, uKasun omncane wazalwa njengezinye izingane. Kodwa kancane kancane, abazali bakhe baqaphela ukuthi uKasun wayemdala kancane kunezinye izingane. Wayephuza ukubamba intamo yakhe kahle, ephuza ukugingqika, futhi ephuza ukuhlala. Lapho eseqala ukuhamba, wayewa njalo, njengokungathi akanayo ibhalansi. Waqala nokukhuluma sekwephuzile kakhulu, kodwa amazwi akhe ayengacacile. Ngemva kokuqala ukuya esikoleni, waba nobunzima bokuqonda izifundo. Kwakuyilapho kuphela lapho emkhombisa udokotela, owenza izivivinyo ezahlukahlukene futhi wathola isimo esibizwa ngokuthi iChristianson Syndrome.

Ukuqinisekisa lokhu, noma ukuqeda, kwenziwa ukuhlolwa kwegazi okukhethekile . Lokhu kuhlolwa kwegazi kusetshenziselwa ukuthola ukuthi kukhona yini ukuguquka kwezakhi zofuzo okubizwa ngokuthi i-SLC9A6. Lokhu kubizwa ngokuthi ukuhlolwa kwezakhi zofuzo .

Yiziphi izindlela zokwelapha i-Christianson Syndrome?

Umbuzo abantu abaningi abawubuzayo ukuthi ngabe ikhona yini ikhambi eliqinisekile lalokhu. Eqinisweni, alikho ikhambi okwamanje. Kodwa-ke, lokho akufanele kukudikibalise. Kunezindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu futhi zithuthukise ikhwalithi yokuphila kwengane nomndeni.

Uhlelo lwakho noma lwengane yakho lokwelapha lungafaka:

• Ukwelashwa kwezinkinga zamehlo: izinto ezifana nezibuko, kanye nokuhlinzwa kokulungisa i-squint (strabismus).
• Izinhlelo Zemfundo Ezizimele (ama-IEP): Siza izingane ezinokukhubazeka kwengqondo noma kokufunda ukuthi zifunde ngendlela ebafanele.
• Imithi yokulwa nesifo sokuwa: Imithi enqunywe odokotela ukunciphisa ukuvama kanye nobukhali bokuwa.
• Ukwelashwa ngokomzimba: Lokhu kusiza kakhulu ekuthuthukiseni amandla omzimba, ithoni yemisipha, ikhono lokuhamba, kanye nokulinganisela.
• Ukwelapha ngenkulumo: Kuthuthukisa amakhono olimi nokuxhumana. Kungafundisa nezinye izindlela zokuxhumana kulabo abangakwazi ukukhuluma.
• Ukwelashwa Komsebenzi: Kusiza ngemisebenzi yansuku zonke efana nokugqoka, ukudla, kanye neminye imisebenzi yansuku zonke.

Konke lokhu kwenzelwa ukusiza ingane ukuthi iphile impilo engcono kakhulu.

Ingabe i-Christianson Syndrome ingavinjelwa?

Eqinisweni, ayikho indlela yokuvimbela i-Christianson Syndrome noma ukuguquka kwezakhi zofuzo okubangela lokhu, ngoba kuyizakhi zofuzo.

Kodwa-ke, uma usola ukuthi ungase ube ngumthwali walesi sifo, noma uma othile emndenini wakho enalesi simo, ungahlolwa izakhi zofuzo .

Lokhu kuhlolwa kwezakhi zofuzo kuhilela ukuthatha isampula yegazi lakho bese ubheka izinguquko ezithile zezakhi zofuzo. Umeluleki wezakhi zofuzo uzobe esekuchazela imiphumela yokuhlolwa. Bazokusiza uqonde ukuthi yimiphi imiphumela yalezi zinguquko nokuthi kungenzeka kangakanani ukuthi ube nengane ene-Christianson Syndrome. Lokhu kungaba kubaluleke kakhulu ukukwazi ngaphambi kokuqala umndeni noma ukuba nomunye umntwana.

Impilo izoba njani ngalesi simo? (I-Outlook)

Ngokunakekelwa okuhle okusekelayo, njengokwelashwa ngokomzimba kanye nokwelashwa ngenkulumo, abantu abane-Christianson Syndrome bangaphila impilo esezingeni eliphezulu . Bangasebenza ngokusemandleni abo.

Njengoba ucwaningo ngalesi sifo lusaqhubeka, akukho datha eqondile ngobude besikhathi sokuphila. Kodwa-ke, ezimweni eziningi, abantu abanalesi sifo baphila isikhathi sokuphila esijwayelekile. Kodwa-ke, ngezinye izikhathi isimo esibizwa ngokuthi 'ukuhlehla' singabonakala, okusho ukwehla kwamakhono akhona ngaphambilini. Isibonelo, ikhono lokukhuluma noma lokuhamba lingase libe lihle isikhashana, kodwa bese liwohloka futhi. Kuhle ukukhuluma nodokotela bakho ngezinto ezinjalo futhi ulungele ukubhekana nazo.

Yimiphi imibuzo okufanele uyibuze udokotela?

Uma usola ukuthi wena noma ingane yakho ninesifo iChristianson Syndrome, noma uma nitholakale ninalesi simo, ningabuza udokotela wenu le mibuzo. Ungesabi ukubuza konke okusengqondweni yenu.

• Yiziphi izivivinyo ezisetshenziswa ukuxilonga i-Christianson Syndrome?
• Iyini imbangela yangempela yalokhu? Ingabe kuyinkinga ngezakhi zofuzo zami?
• Yiziphi izindlela zokwelapha lokhu? Yikuphi ukwelashwa okungcono kakhulu enganeni yami?
• Yini engingayenza ekhaya ukuze ngithuthukise ikhwalithi yempilo yengane yami ene-Christianson Syndrome?
• Lingakanani ithuba lokuthi ezinye izingane zami, noma izingane zesikhathi esizayo, zizozuza lesi sifo njengefa?
• Yiziphi izikhungo namaqembu okusekela esingaphendukela kuwo ukuze sithole usizo ngalesi simo?

Masikhumbule la maphuzu (Umyalezo Ofanele Uwuthathe Ekhaya)

• I-Christianson Syndrome iyisifo esingavamile kakhulu esibangelwa izakhi zofuzo .
• Lokhu kuthinta kakhulu isimiso sezinzwa, okubangela ubunzima bokuhamba nokukhuluma .
• Ukukhubazeka kwengqondo kuvame ukubonakala.
• Lesi simo sithinta kakhulu abafana (X-linked).
• Nakuba kungekho ikhambi eliqondile lalokhu, kunezindlela zokwelapha ezahlukahlukene ezingalawula izimpawu futhi zithuthukise ikhwalithi yokuphila.

Uma wena noma ingane yakho ninezinye zalezi zimpawu, into engcono kakhulu ongayenza ukungesabi, kodwa ukufuna iseluleko sezokwelapha ngokushesha okukhulu. Khumbula, awuwedwa kulolu hambo, futhi ukucela usizo nokwaziswa kuzokusiza ukuthi ubhekane kangcono nalesi simo.

I- Christianson Syndrome, Isifo Sofuzo, Isimiso Sezinzwa, I-X-linked, Ukukhubazeka Kwengqondo, Isifo Sokuwa, Ukulibaziseka Kwentuthuko