Yintoni iChristianson Syndrome? Singathetha ngale meko ingaqhelekanga yemfuza?

Ngaba wakha wazibuza ukuba umntwana wakho unokulibaziseka kokukhula? Okanye kubonakala ngathi unengxaki yokuhamba okanye ukuthetha? Ngamanye amaxesha ezi mpawu zinokubangelwa yimeko engaqhelekanga yemfuza. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebalulekileyo ekufuneka uyiqaphele. Ibizwa ngokuba yiChristianson Syndrome. Ungakhathazeki, kubaluleke kakhulu ukuyiqonda le nto.

Yintoni iChristianson Syndrome?

Ngamafutshane, iChristianson Syndrome sisifo esingaqhelekanga kakhulu, oko kukuthi, esingabonakaliyo kakhulu. Oku kuchaphazela kakhulu inkqubo yethu yemithambo - luvo. Cinga ngayo, inkqubo yemithambo-luvo yeyona nkqubo iphambili ethumela imiyalezo emzimbeni wethu kwaye ilawula zonke izenzo. Ngoko ke xa oku kuchaphazeleka, izinto ezifana nokuhamba nokuthetha zinokuphazamiseka. Abantu abanale meko bafumana ukulibaziseka kokukhula okanye ukukhubazeka kwengqondo. Uninzi lwexesha, ezi mpawu ziqala ukubonakala ngexesha lobuntwana.

Ngubani ochaphazeleka kakhulu yile meko? Kutheni ibonakala ngathi ichaphazela abafana kuphela?

Ngoku khangela, esi sifo sibizwa ngokuba yiChristianson Syndrome sibonakala kakhulu phakathi kwamakhwenkwe . Kukho isizathu esithile saloo nto. Sisifo semfuza esidityaniswe ne-X, oko kuthetha ukuba sibangelwa sisiphene semfuza esinxulumene ne-X chromosome.

Sonke sinezinto ezincinci ezibizwa ngokuba zii-chromosomes ngaphakathi kwiiseli zethu ezigcina ulwazi lwemfuza. Abafazi banee-chromosomes ezimbini ze-X (XX), kwaye amadoda ane-chromosome enye ye-X kunye ne-chromosome enye ye-Y (XY).

Ngoko ke, nokuba umfazi une-gene mutation ye-Christiansen syndrome kwi-chromosome enye ye-X, kodwa enye i-chromosome ye-X ephilileyo ayisoloko ibangela iimpawu. Inokuba ngumthwali wesifo. Oko kuthetha ukuba banayo i-gene yayo nangona bengenaso isifo.

Kodwa ukuba indoda inolu tshintsho lwezakhi zofuzo kwi-chromosome yayo eyi-X kuphela, ngokuqinisekileyo iya kuba neempawu kuba ayinayo i-chromosome eyi-X ephilileyo yokwenza lo msebenzi. Ukuze umfazi abe nesi sifo, kufuneka abe nolu tshintsho kuzo zombini ii-chromosome ze-X. Oko kunqabile kakhulu, nto leyo ethetha ukuba amathuba okuba kwenzeke aphantsi kakhulu.

Ixhaphake kangakanani iChristianson Syndrome?

Enyanisweni, kunzima ukutsho ukuba oku kuqheleke kangakanani ngokwezibalo. Kuba yimeko engaqhelekanga kakhulu. Oogqirha bathi ayiqhelekanga kakhulu .Yimeko engaqhelekanga le. Ezinye iingqikelelo zibonisa ukuba malunga nenkwenkwe enye kwi-600 enesifo sengqondo esinxulumene ne-X inokuba nale meko. Olunye uphando lufumanise ukuba i-Christianson Syndrome iyenzeka kwintsapho enye kwi-100 enomntwana onesifo sokukhubazeka kwengqondo esinxulumene ne-X. Ngoko ke, ungabona ukuba oku kunqabile kangakanani, akunjalo?

Zithini iimpawu zeChristianson Syndrome?

Kulungile, makhe sibone ukuba zeziphi iimpawu eziboniswa yinkwenkwe eneChristianson Syndrome. Usenokubona ezinye okanye zonke ezi. Ayingomntwana wonke oza kuba nazo zonke ezi mpawu, kwaye loo nto yinto ekufuneka uyikhumbule.

Iimpawu eziphambili ezihlala zibonwa zezi:

• Iingxaki zokuhamba nokulinganisela (ataxia): Oku kuthetha ukuba kunzima ukugcina ulungelelwano, kwaye ungaziva ungazinzile okanye ungazinzile xa uhamba.
• Isifo sokuwa: Oku kuthetha ukuba iimeko ezifana nokuwa zinokwenzeka. Oku kukulahlekelwa yingqondo ngequbuliso kunye nokuxhuzula.
• Iingxaki zamehlo: Umzekelo, i-strabismus, okanye njengoko sisithi, 'amehlo anqamlezileyo', yimeko efana naleyo.
• Ukungakwazi ukuthetha okanye ubunzima obukhulu: Ubunzima bokubumba amagama, okanye ukungakwazi ukuthetha konke konke, okanye intetho inokuba ncinci kakhulu.
• Ukukhubazeka kwengqondo: Kusenokubakho ukungakwazi ukufunda, ukuqonda, njl. Ubungakanani boku bunokwahluka kumntu nomntu.
• I-Microcephaly: Intloko isenokuba ncinci kunesiqhelo. Oku kulinganiswa ngokunxulumene nobudala bomntwana kunye nesini sakhe.

Ukongeza koku, ezinye iimpawu zingabonakala:

• Ingxaki ye-Autism spectrum: Iimpawu ezinjengokungathandi ukuzibandakanya nabantu, ukusebenzisana nabanye, kunye nokuziphatha okuphindaphindiweyo.
• Ukuwohloka kweCerebellar: Inxalenye yengqondo yethu elawula ulungelelwano kunye nokuhamba, ebizwa ngokuba yi-cerebellum, inokuyeka ukukhula okanye inciphe.
• Iingxaki zenkqubo yokugaya ukutya: Umzekelo, iimeko ezifana nesifo se-gastroesophageal reflux (GERD), esibangela iimpawu ezifana ne-heartburn kunye ne-regurgitation.
• Ukulahlekelwa yikhono lokuhamba: Usenokukwazi ukuhamba ekuqaleni, kodwa ngokuhamba kwexesha, elo khono linokuncipha okanye liphele. Oku kubizwa ngokuba yi -'regression' .
• Ubuthathaka bemisipha (hypotonia): Umzimba unokuziva utyhafile kwaye utyhafile, njengonodoli werabha.
• Ukunciphisa umzimba okanye ukunciphisa ubude:Usenokulahlekelwa bubunzima nobude obuhambelana neminyaka yakho. Oko kuthetha ukuba ukukhula kwakho kusenokudodobala.

Okumangalisayo kukuba abantwana abaneChristianson Syndrome ngamanye amaxesha babonisa iimpawu ezifana nezabantwana abanesinye isifo semfuza esibizwa ngokuba yiAngelman syndrome, njengokubonakala bonwabile ngaphandle kwesizathu nokuncuma ngalo lonke ixesha.

Njengoko bekutshiwo ngaphambili, abafazi abanolu tshintsho lwemfuza, oko kukuthi, abathwali, banokuba neengxaki zokufunda, kodwa abafane babone ezinye iimpawu ezinzima ezibonakaliswa ngabafana.

Yintoni ebangela iChristianson Syndrome?

Ukuba sijonga unobangela woku, iChristianson Syndrome sisifo semfuza . Oko kukuthi, sibangelwa kukutshintsha okanye ukuguqulwa kwejini. Ngokuchanekileyo, sibangelwa kukuguqulwa kwejini okubizwa ngokuba yi-SLC9A6 kwi-chromosome ye-X.

Olu tshintsho lwezakhi zofuzo lufunyanwa ngabazali ukuya ebantwaneni. Kwiimeko ezininzi, abazali abadlulisela olu tshintsho kubantwana babo ngabathwali besifo. Oku kuthetha ukuba nangona benolu tshintsho kwizakhi zofuzo zabo, ababonisi zimpawu.

Sifunyaniswa njani esi sifo?

Xa ugqirha ekubona okanye ekubona umntwana wakho, banokukrokrela ukuba yiChristianson Syndrome ukuba banezinye zeempawu esizixubushileyo ngaphambili.

Khawucinge nje, uKasun omncinci wazalwa njengabanye abantwana. Kodwa kancinci kancinci, abazali bakhe baqonda ukuba uKasun mdala kunabanye abantwana. Wayelibele ukubamba intamo yakhe kakuhle, eqengqeleka kade, kwaye ehleli kade. Emva koko, xa eqala ukuhamba, wayewa rhoqo, ngokungathi akanayo ibhalansi. Waqala nokuthetha kade kakhulu, kodwa amazwi akhe ayengacacanga. Emva kokuba eqale ukuya esikolweni, waba nobunzima bokuqonda izifundo. Kwakuxa wambonisa ugqirha, owamvavanya ngeendlela ezahlukeneyo waza wafumanisa ukuba unesimo esibizwa ngokuba yiChristianson Syndrome.

Ukuqinisekisa oku, okanye ukuthintela oku, kwenziwa uvavanyo lwegazi olukhethekileyo . Olu vavanyo lwegazi lusetyenziselwa ukufumanisa ukuba kukho utshintsho kwi-gene olubizwa ngokuba yi-SLC9A6. Oku kubizwa ngokuba luvavanyo lwe-genetic .

Ziziphi iindlela zonyango lweChristianson Syndrome?

Umbuzo abantu abaninzi abawubuzayo kukuba ingaba lukho na unyango oluqinisekileyo loku. Enyanisweni, akukho nyango okwangoku. Nangona kunjalo, oko akufanele kukutyhafise. Kukho unyango oluninzi olunokunceda ukulawula iimpawu kunye nokuphucula umgangatho wobomi bomntwana kunye nosapho.

Isicwangciso sonyango sakho okanye somntwana wakho singabandakanya:

• Unyango lweengxaki zamehlo: izinto ezifana neeglasi, mhlawumbi notyando lokulungisa i-squint (strabismus).
• Izicwangciso Zemfundo Ezimeleyo (IEPs): Nceda abantwana abaneengxaki zengqondo okanye zokufunda bafunde ngendlela ebafaneleyo.
• Amayeza okulwa nesifo sokuwa: Amayeza anikwe oogqirha ukuze kuncitshiswe ukuxhaphaka nobunzima bokuwa.
• Unyango lomzimba: Oku kunceda kakhulu ekuphuculeni amandla omzimba, ithoni yemisipha, amandla okuhamba, kunye nokulinganisela.
• Unyango lokuthetha: Luphucula izakhono zolwimi nonxibelelwano. Lungafundisa nezinye iindlela zonxibelelwano kwabo bangakwaziyo ukuthetha.
• Unyango lomsebenzi: Lunceda kwimisebenzi yemihla ngemihla efana nokunxiba, ukutya, kunye neminye imisebenzi yemihla ngemihla.

Konke oku kwenzelwa ukunceda umntwana aphile ubomi obungcono kangangoko.

Ngaba iChristianson Syndrome ingathintelwa?

Enyanisweni, akukho ndlela yokuthintela iChristianson Syndrome okanye utshintsho lwezakhi zofuzo oluyibangelayo, kuba lufuzo.

Nangona kunjalo, ukuba ukrokrela ukuba usenokuba unesi sifo, okanye ukuba kukho umntu kusapho lwakho onesi sifo, ungavavanywa ngokwemfuza .

Olu vavanyo lwemfuza lubandakanya ukuthatha isampuli yegazi lakho kunye nokukhangela utshintsho oluthile lwemfuza. Umcebisi wemfuza uya kukuchazela iziphumo zovavanyo. Baza kukunceda uqonde ukuba zithini iziphumo zolu tshintsho kunye nokuba unokuba nomntwana oneChristianson Syndrome kangakanani. Oku kunokuba kubaluleke kakhulu ukwazi ngaphambi kokuba uqalise usapho okanye ube nomnye umntwana.

Buza kuba njani ubomi kule meko? (Imbono)

Ngoncedo olufanelekileyo, njengonyango lomzimba kunye nonyango lokuthetha, abantu abaneChristianson Syndrome banokuphila ubomi obusemgangathweni ophezulu . Banokusebenza kangangoko banako.

Ekubeni uphando ngesi sifo lusaqhubeka, akukho datha ichanekileyo malunga nobude bobomi. Nangona kunjalo, kwiimeko ezininzi, abantu abanale sifo baphila ubomi obuqhelekileyo. Nangona kunjalo, ngamanye amaxesha imeko ebizwa ngokuba yi -'regression' inokubonwa, nto leyo ethetha ukwehla kwezakhono ezazikho ngaphambili. Umzekelo, amandla okuthetha okanye okuhamba anokuba luncedo okwethutyana, kodwa emva koko abuye abe mandundu. Kulungile ukuthetha noogqirha bakho ngezinto ezinjalo kwaye ulungele ukujongana nazo.

Yeyiphi imibuzo omele uyibuze ugqirha?

Ukuba ukrokrela ukuba wena okanye umntwana wakho uneChristianson Syndrome, okanye ukuba ufunyenwe unale meko, ungambuza ugqirha wakho le mibuzo. Ungoyiki ukubuza yonke into esengqondweni yakho.

• Zeziphi iimvavanyo ezisetyenziswayo ukuxilonga iChristianson Syndrome?
• Yintoni kanye kanye imbangela yoku? Ingaba yingxaki kwiijini zam?
• Ziziphi iindlela zonyango zoku? Loluphi unyango olulungele umntwana wam?
• Yintoni endinokuyenza ekhaya ukuphucula umgangatho wobomi bomntwana wam oneChristianson Syndrome?
• Lithini ithuba lokuba abanye abantwana bam, okanye abantwana bam bexesha elizayo, baza kufumana esi sifo njengelifa?
• Ngawaphi amaziko kunye namaqela enkxaso esinokuya kuwo ukuze sifumane uncedo kule meko?

Masikhumbule la manqaku (Umyalezo Wokubuyela Ekhaya)

• I-Christianson Syndrome yimeko engaqhelekanga kakhulu yemfuza .
• Oku kuchaphazela kakhulu inkqubo yemithambo-luvo, nto leyo ebangela ubunzima bokuhamba nokuthetha .
• Ukukhubazeka kwengqondo kudla ngokubonakala.
• Le meko ichaphazela kakhulu abafana (X-linked).
• Nangona kungekho nyango luthile loku, kukho iindlela ezahlukeneyo zonyango ezinokulawula iimpawu kwaye ziphucule umgangatho wobomi.

Ukuba wena okanye umntwana wakho ninayo nayiphi na kwezi mpawu, eyona nto ingcono onokuyenza kukungabi naxhala, kodwa kukufuna ingcebiso kagqirha ngokukhawuleza. Khumbula, awuwedwa kolu hambo, kwaye ukucela uncedo nokwaziswa kuya kukunceda ujongane ngcono nale meko.

I- Christianson Syndrome, Isifo Sofuzo, Inkqubo Yeemvakalelo, i-X-linked, Ukukhubazeka Kwengqondo, Isifo Sokuxhuzula, Ukulibaziseka Kophuhliso