Ngaba umntwana wakho uyalila njengekati? Masifunde ngeCri du Chat Syndrome.

Ngaba wakha waphawula ukuba iintsana ezisandul’ ukuzalwa ngamanye amaxesha ziyakhala ngendlela engaqhelekanga? Kwakhona, kukho amaxesha apho inkangeleko nophuhliso lobuso bezinye iintsana lubonakala lwahlukile kancinci. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebaluleke kakhulu ekufuneka uyiqaphele. Elo libizwa ngokuba yi-'Cri du Chat Syndrome'.

Yintoni iCri du Chat Syndrome?

Ngamafutshane, i-cri du chat syndrome yimeko engaqhelekanga kakhulu yemfuza. Ibangelwa kukususwa kweqhekeza elincinci le-chromosome emzimbeni wethu. Usenokuba uzibuza ukuba kutheni ibizwa ngokuba yi-'cri du chat'. Ligama lesiFrentshi elithetha 'ukukhala kwekati'. Eli gama livela kwisandi esithile esenziwa ngabantwana abanesifo xa bekhala. Sisandi esiphantsi, esivakala kakhulu, njengekati elikhalayo.

Oku kukwabizwa ngokuba yi -'5p- syndrome' (5p minus syndrome) . Uyazi ukuba yintoni? Oku kuthetha ukuba sine-chromosome number 5, kwaye inxalenye ebizwa ngokuba yi-'p' (oko kukuthi, isandla esincinci) yinxalenye endikhankanyileyo engekhoyo. Indlela le '5p-' syndrome echaphazela ngayo umntu ngamnye inokwahluka. Oko kukuthi, kuxhomekeke kubukhulu beqhekeza le-chromosome elingekhoyo kunye nendawo elingekho kuyo, abanye abantu banokufumana iimpawu ezininzi okanye ezincinci. Ukuba eli qhekeza lilahlekile kakhulu kwabanye abantwana, iimpawu zinokuba nzima ngakumbi.

Ixhaphake kangakanani le meko yokuncokola nge-cri du chat?

Enyanisweni, i-Cree du Chat syndrome yimeko engaqhelekanga kakhulu . Nangona kunjalo, yenye yezifo ezixelwa rhoqo ezibangelwa kukungasebenzi kakuhle kwe-chromosome. Khawuthelekelele, kwilizwe elifana neMelika, malunga nosana olunye luzalwa lunesi simo kwiintsana ezisandul’ ukuzalwa ezili-15,000 ukuya kuma-50,000. Oko kuthetha malunga neentsana ezingama-50 ukuya kuma-60 ngonyaka. Ngoko ke, kukho amathuba okubona ezo meko naseSri Lanka.

Zithini iimpawu ze-cri du chat syndrome?

Iimpawu zale meko zingahluka kakhulu, njengoko benditshilo ngaphambili. Nangona kunjalo, uphawu oluphambili noluqhelekileyo kukuba kukho ukukhala okucacileyo, okuphantsi, nokuvakalayo. Kufana nokulila kwekati. Esi sandi siyabonakala ngokucacileyo kwiiveki zokuqala emva kokuzalwa. Nangona kunjalo, njengoko umntwana ekhula, umahluko wesi sandi usenokungacaci kangako.

Ukongeza, umntwana wakho unokubona ezi mpawu zobuso ezahlukeneyo :

• Incinci kunobukhulu obuqhelekileyo bentloko (i-microcephaly).
• Ubuso obungqukuva ngokungaqhelekanga.
• Impumlo ebanzi.
• Umgama phakathi kwamehlo mkhulu kunowesiqhelo (hypertelorism).
• Amehlo anqamlezileyo (strabismus).
• Iinkophe zigobile zijonge ezantsi (iimfanta zepalpebral).
• Ukuba nolusu olugobileyo kwikona engaphakathi yeliso (amehlo anombala omnye).
• Iindlebe zibekwe ngaphantsi kwesiqhelo.
• Umhlathi omncinci ngokungaqhelekanga (i-micrognathia).
• Phakathi komlomo ophezulu nempumloI-philtrum emfutshane ngokungaqhelekanga.

Njengoko umntwana ekhula, ukugcwala kobuso kunokuncipha, kwaye ubuso bunokuba bude kwaye bube buncinci ngendlela engaqhelekanga.

Ezinye iimpawu ezinokubonwa ziquka:

• Ubunzima obuphantsi bokuzalwa.
• Ukulibaziseka kokukhula.
• Ubunzima bokutya. Umzekelo, ukungakwazi ukuncancisa, ubunzima bokuginya (dysphagia), kunye ne-reflux esophagitis (GERD).
• Ubuthathaka bemisipha (hypotonia).
• I-Scoliosis.
• Iziphene zentliziyo.
• Ukulibaziseka kwimisebenzi yophuhliso efana nokulawula intloko, ukuhlala phantsi, nokuhamba.
• Ukulibaziseka kwizakhono zokuthetha nezolwimi.
• Ukukhubazeka kwengqondo okuphakathi ukuya kokukhulu.

Into ebalulekileyo kukuba ayingomntwana ngamnye oza kuba nazo zonke ezi mpawu. Abanye abantwana basenokuba nazo ezimbalwa kuphela.

Kutheni le nto le cri du chat syndrome isenzeka?

Ndithe i-Cree du Chat syndrome sisifo se-chromosome . Sibangelwa kukususwa kwenxalenye yengalo emfutshane (ingalo ye-p) ye-chromosome inombolo yesi-5. Uninzi lwexesha, oku kulahleka kwesi siqwenga se-chromosome kwenzeka ngokungacwangciswanga. Oko kukuthi, kwenzeka ngengozi xa iiseli zokuzala (oko kukuthi amaqanda okanye isidoda) sikamama okanye utata zenzeka, okanye ngexesha lokukhula kwasebuncinaneni bomntwana. Umntwana onesi sifo ngenxa 'yokususwa' okungacwangciswanga unokuba nee-chromosomes eziqhelekileyo ezivela kubazali bobabini. Oko kukuthi, ayizuzwa njengelifa kumzali ngamnye, kwiimeko ezininzi.

Ngaba oku akuzuzwa ngabazali?

Kwiimeko ezininzi (malunga nama-90 kwi-100), i-Cree du Chat syndrome ayizuzisi njengelifa. Ngenxa yoko, ayinakubizwa ngokuba yi-dominant okanye i-recessive. Abantwana abanale meko ye-5p- badla ngokuba abanayo imbali yosapho lwabo yesi sifo.

Nangona kunjalo, ipesenti encinci kakhulu (malunga ne-10%) yabantwana izuza esi sifo singaqhelekanga se-chromosome kumzali ongachaphazelekanga. Uyazi ukuba oku kwenzeka njani? Loo mzali usenokuba nento ebizwa ngokuba yi-'balanced translocation' kwii-chromosomes zabo. Oko kuthetha ukuba akukho lahleko okanye ukwanda kwezinto zofuzo zomzali. Ke ngoko, abo bazali bahlala bengenazo iingxaki zempilo. Nangona kunjalo, xa esi 'balanced translocation' sizuzwe ngumntwana, sinokuba 'singalingani'. Kulapho umntwana enokuthi abe nale meko.

Ifunyanwa njani i-cre du chat syndrome?

Ngokwesiqhelo, ugqirha womntwana wakho uza kukubona emva nje kokuba ezelwe.Le meko inokuchongwa kuba ugqirha unokubona izinto ezifana nokukhala okufana nekati endikukhankanyileyo ngaphambili kunye neempawu zobuso ezikhethekileyo. Ugqirha uya kwenza uvavanyo olupheleleyo lomzimba aze ahlole iimpawu zomntwana. Kusenokwenzeka ukuba ugqirha uya kucebisa uvavanyo lwe-chromosome ukuqinisekisa ukuxilongwa.

Zeziphi iimvavanyo ezenziwayo koku?

Kukho iintlobo ezintathu eziphambili zovavanyo lwemfuza olunokusetyenziswa ngugqirha womntwana wakho ukuxilonga isifo seCree du Chat:

• Uvavanyo lweKaryotype: Olu vavanyo lusetyenziselwa ukwenza imephu yeechromosomes zomntwana. Olu vavanyo lunokusetyenziselwa ukubona ukuba kukho inxalenye yechromosome elahlekileyo okanye engekhoyo.
• Uvavanyo lweentlanzi: I-FISH imele 'i-fluorescence in situ hybridization'. Olu vavanyo lujonga utshintsho oluthile lwezakhi zofuzo okanye iziqwenga zezakhi zofuzo kwiiseli zomntwana.
• Uhlalutyo lwe-microarray ye-Chromosome: Uhlalutyo lwe-Microarray luvavanyo lwe-genetic oluthelekisa i-DNA yomntwana ne-DNA yeqela lolawulo. Lunokuchonga ii-chromosomes ezipheleleyo, amacandelo e-chromosome, kunye nokususwa kunye nokuphindaphinda kwiindawo ezithile kwii-chromosomes.

Ngaba i-cre du chat inganyangeka?

Ngelishwa, akukho nyango lwe-cri du chat syndrome. Nangona kunjalo, ukubhaqwa kwangoko kunye nokungenelela kwangoko kunokunceda umntwana wakho afikelele kumandla akhe apheleleyo kwaye aphile ubomi obunenjongo. Yiyo leyo into ebaluleke kakhulu.

Inyangwa njani i-cre du chat syndrome?

Unyango lwe-cri du chat syndrome luyahluka kumntwana ngamnye, kuba ayinguye wonke umntu oneempawu ezifanayo. Unyango lusenokufuna unyango oluqhubekayo oluvela kwiqela lababoneleli bezempilo . Unyango oluqhelekileyo kukuvuselelwa. Oku kuquka izinto ezifana nonyango lomzimba, unyango lomsebenzi, kunye nonyango lokuthetha.

Ulungiso lwenyama

Ukuba umntwana wakho uneengxaki zokutya (umz., ubunzima bokuncanca okanye ukuginya), kufuneka uqale unyango lomzimba ngokukhawuleza. Unyango lomzimba lukwanceda umntwana wakho akhule ngokwasemzimbeni. Oko kukuthi, lumnceda ahlale, ame, kwaye aphuhlise izakhono zakhe zokuhambisa umzimba.

Unyango Lomsebenzi

Unyango lomsebenzi lunceda umntwana wakho aphuhlise izakhono azidingayo ukuze asebenzisane nehlabathi elimngqongileyo kubomi bemihla ngemihla. Oku kungabandakanya ukuphuhlisa izakhono zomzimba ezintle, izakhono zokubona, izakhono zokuzinyamekela, kunye nezakhono zokuva.

Unyango lweNtetho

Unyango lokuthetha lunceda kwiingxaki zonxibelelwano lomntwana. Iingcali zokuthetha zifundisa abantwana iindlela ezahlukeneyo zokunxibelelana. Umzekelo, ulwimi lwezandla , ukunxibelelana ngoncedo lwetekhnoloji, njl. Iingcali zokuthetha zikwanceda kwiingxaki zokutya kwasebuntwaneni.

Ukongeza kwezi ndlela zonyango, ugqirha womntwana wakho unokucebisa utyando kwiimeko ezahlukeneyo. Umzekelo, utyando lunokulungisa iimeko ezifana neziphene zentliziyo zokuzalwa, i-strabismus, kunye ne-scoliosis.

Ngaba i-cre du chat ingathintelwa?

Ngenxa yokuba i-cri du chat syndrome yimeko yemfuza, asinakuyithintela. Nangona kunjalo, ukuba ulindele umntwana, licebo elihle ukuthetha nogqirha wakho malunga neengcebiso zemfuza . Iingcebiso zemfuza zinokukunceda uqonde umngcipheko wokuba umntwana wakho abe nesifo semfuza.

Ingakanani ixesha lomntwana one-cri du chat?

Imbono yabantwana abaninzi abane-Cree du Chat syndrome iyinkimbinkimbi kwaye inokwahluka. Ubungakanani kunye nendawo yeqhekeza elilahlekileyo le-chromosome 5 yeyona nto iphambili ekumiseleni ikamva lomntwana. Umntwana wakho usenokuba nemida ethile yomzimba neyengqondo. Nangona kunjalo, uninzi lwabantwana abane-Cree du Chat banobude bobomi obuqhelekileyo.

Nangona kunjalo, ezinye iintsana zizalwa zineengxaki zempilo ezinokuba yingozi ebomini. Malunga nama-75% ezi ntsana zifa kwinyanga yokuqala yobomi. Malunga nama-90% okufa kwenzeka kunyaka wokuqala. Nangona kunjalo, izinga lokufa liyehla emva kweminyaka embalwa yokuqala yobomi.

Xa sijonga ikamva lesifo somntwana , enye yezona zinto zibalulekileyo kukuxilongwa kwangethuba. Oku kuvumela ukuba unyango olufunekayo kunye nonyango luqalwe ngokukhawuleza kwaye kuncede umntwana aphumelele.

Kunokuba nzima ukwazi ukuba umntwana wakho unesifo esingaqhelekanga semfuza. Nangona kunjalo, ukufunda ngesi sifo kunokukunika ulawulo oluthile. I-Cre du Chat syndrome yimeko eneempawu ezahlukeneyo. Ngokuchongwa kwangoko kunye nonyango olufanelekileyo, unokunika umntwana wakho iziphumo ezilungileyo kangangoko. Funda kangangoko unako ngesi sifo kwaye ufumane amaqela enkxaso anokukunceda. Ngokungenelela kwangoko kunye nonyango oluqhubekayo, umntwana wakho unokufikelela ngokupheleleyo kumandla akhe.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Cri du Chat Syndrome isenokuvakala ingaqhelekanga, kodwa kubalulekile ukuyiqonda.

• Le yimeko engaqhelekanga yemfuza ebangelwa kukungabikho kwesiqwenga se-chromosome inombolo 5.
• Uphawu oluphambili kukukhala okufana nekati okwahlukileyo.Kwangaxeshanye, iimpawu zobuso ezikhethekileyo kunye nokulibaziseka kophuhliso kunokubonwa.
• Oku kudla ngokuba yinto eyenzeka ngengozi, kungekhona into ezuzwe njengelifa kubazali.
• Nangona kungekho ndlela yokunyanga oku, ukuxilongwa kwangoko kunye nonyango olufana nonyango lomzimba, lomsebenzi, kunye nonyango lokuthetha lunokuphucula kakhulu umgangatho wobomi bomntwana.
• Awuwedwa. Funa uncedo koogqirha, abagqirha bezonyango, kunye nabanye abazali abaye baba namava afanayo .

Wonke umntwana uxabisekile, masimncede sonke aphuhlise amandla akhe.

Isifo seCri du Chat, izifo zemfuza, ii-chromosomes, i-5p minus, ukukhala kwekati, ukulibaziseka kophuhliso, unyango lomzimba, unyango lokuthetha