I-Cri du Chat Syndrome: iyini, izimbangela kanye nokwelashwa

-Delile

• Izimpawu eziyinhloko
• Yini ebangela lesi sifo
• Yelashwa kanjani
• Izinkinga zeCri du Chat
• Isikhathi sokuphila

I-Cri du Chat syndrome, eyaziwa njenge-cat meow syndrome, iyisifo esingajwayelekile sezakhi zofuzo esivela kokungajwayelekile kofuzo ku-chromosome, i-chromosome 5 futhi okungaholela ekubambezelekeni kokuthuthuka kwe-neuropsychomotor, ukubambezeleka kobuhlakani futhi, ezimeni eziningi izinkinga ezinkulu, ukungasebenzi kahle yenhliziyo nezinso.

Igama lalesi sifo libangelwa uphawu lwesici lapho ukukhala komntwana osanda kuzalwa kufana ne-meow yekati, ngenxa yokungahambi kahle kwe-larynx okugcina kuguqula umsindo wokukhala kwengane. Kepha ngemuva kweminyaka emibili ubudala, umsindo we-meowing uvame ukunyamalala.

Ngoba i-meowing iyisici esithile se-Cri du Chat syndrome, ukuxilongwa kuvame ukwenziwa emahoreni okuqala okuphila, ngakho-ke, ingane ingathunyelwa kusenesikhathi ukuze ithole ukwelashwa okufanele.

Izimpawu eziyinhloko

Uphawu oluphawuleka kakhulu lwalesi sifo ukukhala ngokufana nokuncipha kwekati. Ngaphezu kwalokho, kunezinye izimpawu ezingabonwa ngemuva nje kokuzalwa, njenge:

• Iminwe noma izinzwane kuhlangene;
• Isisindo sokuzalwa esiphansi nobudala;
• Umugqa owodwa entendeni yesandla;
• Intuthuko ebambezelekile;
• Isilevu esincane;
• Ubuthakathaka bemisipha;
• Ibhuloho lamakhala eliphansi;
• Amehlo ahlukanisiwe;
• I-Microcephaly.

Ukuxilongwa kwe-Cri Du Chat syndrome kwenziwa ewadini labakhulelwe, ngemuva kwamahora nje umntwana ezelwe, ngokubheka izimpawu ezingenhla. Ngemuva nje kokuqinisekiswa, abazali bayaziswa ngobunzima okungenzeka ukuthi ingane ingaba nabo ngesikhathi sokukhula, njengobunzima bokufunda nokondla.

Lezi zingane nazo zingaqala ukuhamba kamuva lapho sezineminyaka emithathu ubudala, ziveze ukuhamba kabi futhi ngokusobala zingenamandla noma ibhalansi. Ngaphezu kwalokho, ebuntwaneni basekuqaleni bangaba nokuziphatha njengokukhathazeka ngezinto ezithile, ukungasebenzi kahle kanye nodlame, isibonelo.

Yini ebangela lesi sifo

I-Cat meow syndrome ibangelwa ushintsho ku-chromosome 5, lapho kukhona ukulahleka kocezu lwe-chromosome. Ubucayi besifo bufike kubungako balolu shintsho, okusho ukuthi, uma ucezu lulahlekile, isifo sizoba sibi kakhulu.

Izizathu zokukhishwa kwalesi siqeshana azikaziwa, kepha kuyaziwa ukuthi akusona isimo sefa, okungukuthi, lolu shintsho lwenzeka ngokungahleliwe futhi aludluliswa lusuka kubazali luye enganeni.

Yelashwa kanjani

Ngoba kungukushintsha kofuzo ku-chromosome, alikho ikhambi lalesi sifo, njengoba ingane isivele izelwe inalesi simo futhi akunakwenzeka ukuthi kuguqulwe isimo sofuzo ngemuva kokuzalwa. Kodwa-ke, ukwelashwa kwenziwa ukukhulisa ikhwalithi yempilo futhi kunciphise izimpawu zesifo.

Ingane ibhekwa ngosizo lwabelaphi bokukhuluma, abasebenza ngokuzivocavoca umzimba kanye nabelaphi emsebenzini, okuvumela ukuvela kokuhlanganiswa kwezimoto, amakhono okuqonda nawokuqonda, imisebenzi yokuphila kwansuku zonke kanye nobudlelwano phakathi kwabantu.

Kubalulekile ukuthi ukwelashwa kuqala ngokushesha okukhulu, njengoba ukuvuselela kwangaphambi kwesikhathi kuvumela ukukhula okungcono, ukujwayela nokwamukela isifo ngomuntu osemusha nasebudaleni.

Izinkinga zeCri du Chat

Izinkinga zalesi sifo zikhona ngokobukhulu benguquko ku-chromosome, futhi kulezi zimo izingane zingaletha izimpawu ezinjengezinkinga emgogodleni, enhliziyweni noma kwezinye izitho, ubuthakathaka bemisipha phakathi neminyaka yokuqala yokuphila nezinkinga ekuzweni nombono.

Kodwa-ke, lezi zinkinga zingancishiswa ngokwelashwa nokulandelwa kusukela ezinsukwini zokuqala zokuphila.

Isikhathi sokuphila

Lapho ukwelashwa kuqala ezinyangeni zokuqala zokuphila futhi izingane ziqeda unyaka owodwa, iminyaka yokuphila ibhekwa njengokujwayelekile, futhi umuntu angafinyelela ebudaleni. Kodwa-ke, ezimweni ezinzima lapho ingane inezinkinga zezinso noma zenhliziyo, futhi lapho ukwelashwa kunganele, ukufa kungahle kwenzeke ngonyaka wokuqala wokuphila.