Ingabe ingane yakho iyakhala njengekati? Ake sifunde nge-Cri du Chat Syndrome.

Wake waphawula ukuthi izingane ezisanda kuzalwa ngezinye izikhathi zikhala ngendlela exakile? Futhi, kunezikhathi lapho ukubukeka nokukhula kobuso bezinye izingane kubonakala kuhlukile kancane. Namuhla sizokhuluma ngesimo esisodwa esingavamile kodwa esibaluleke kakhulu okufanele sisiqaphele. Leso sibizwa ngokuthi 'i-Cri du Chat Syndrome'.

Iyini i-Cri du Chat Syndrome?

Kalula nje, i-cri du chat syndrome iyisimo esingavamile kakhulu sofuzo. Sibangelwa ukususwa kwengxenye encane ye-chromosome emzimbeni wethu. Ungase uzibuze ukuthi kungani ibizwa ngokuthi 'cri du chat'. Yigama lesiFulentshi elisho 'ukukhala kwekati'. Leli gama livela emsindweni othize okwenziwa yizingane ezinalesi simo lapho zikhala. Umsindo ophansi, ophakeme, njengomsindo wekati elikhalayo.

Lokhu kubizwa nangokuthi '5p- syndrome' (5p minus syndrome) . Uyazi ukuthi kuyini? Lokhu kusho ukuthi sinenombolo 5 ye-chromosome, kanti ingxenye ebizwa ngokuthi 'p' (okungukuthi, isandla esincane) yingxenye engiyishilo engekho. Indlela le '5p-' syndrome ethinta ngayo umuntu ngamunye ingahluka. Okusho ukuthi, kuye ngobukhulu bengxenye ye-chromosome engekho nokuthi ilahlekile kuphi, abanye abantu bangase babe nezimpawu eziningi noma ezimbalwa. Uma le ngxenye ilahlekile kakhulu kwabanye abantwana, izimpawu zingase zibe zimbi kakhulu.

Sivame kangakanani lesi simo se-cri du chat?

Empeleni, i-Cree du Chat syndrome iyisimo esingavamile kakhulu . Kodwa-ke, ingenye yezifo ezibikwa kakhulu ezibangelwa ukukhubazeka kwe-chromosome. Cabanga nje, ezweni elifana neMelika, cishe ingane eyodwa izalwa nalesi simo kuzo zonke izingane ezisanda kuzalwa ezingu-15,000 kuya ku-50,000. Lokho kusho ukuthi cishe izingane ezingu-50 kuya ku-60 ngonyaka. Ngakho-ke, kunamathuba okuthola izimo ezinjalo naseSri Lanka.

Ziyini izimpawu ze-cri du chat syndrome?

Izimpawu zalesi simo zingahluka kakhulu, njengoba ngishilo ngaphambili. Kodwa-ke, uphawu oluyinhloko noluvame kakhulu ukukhala okuhlukile, okuphansi, okuphezulu. Kufana nekati elikhalayo. Lo msindo ubonakala ngokucacile emasontweni ambalwa okuqala ngemva kokuzalwa. Kodwa-ke, njengoba umntwana ekhula, ukuhluka kwalo msindo kungase kungabonakali kakhulu.

Ngaphezu kwalokho, ingane yakho ingase ibone lezi zici zobuso ezihlukile :

• Incane kunosayizi wekhanda ojwayelekile (i-microcephaly).
• Ubuso obuyindilinga ngendlela engavamile.
• Ikhala elibanzi.
• Ibanga eliphakathi kwamehlo likhulu kunelijwayelekile (i-hypertelorism).
• Amehlo aphambene (strabismus).
• Amajwabu amehlo agobile phansi (imifantu ye-palpebral).
• Ukuba nesikhumba esigoqekile ekhoneni elingaphakathi leso (amehlo anombala owodwa).
• Izindlebe zibekwe ngaphansi kwejwayelekile.
• Umhlathi omncane ngendlela engavamile (i-micrognathia).
• Phakathi kodebe oluphezulu nekhalaI-philtrum emfushane ngendlela engavamile.

Njengoba umntwana ekhula, ukugcwala kobuso kungase kunciphe, futhi ubuso bungase bube bude futhi bube buncane ngendlela engavamile.

Ezinye izimpawu ezingase zibonakale zifaka:

• Isisindo esiphansi sokuzalwa.
• Ukuncipha kokukhula.
• Ubunzima bokudla. Isibonelo, ukungakwazi ukuncela kahle, ubunzima bokugwinya (i-dysphagia), kanye ne-reflux esophagitis (GERD).
• Ubuthakathaka bemisipha (hypotonia).
• I-Scoliosis.
• Ukukhubazeka kwenhliziyo.
• Ukubambezeleka kwezinyathelo zokukhula njengokulawula ikhanda, ukuhlala phansi nokuhamba.
• Ukuphuza ukukhuluma kanye namakhono olimi.
• Ukukhubazeka kwengqondo okumaphakathi kuya kokubi kakhulu.

Into ebalulekile ukuthi akuzona zonke izingane ezizoba nazo zonke lezi zici. Ezinye izingane zingase zibe nezimbalwa zazo.

Kungani lesi sifo se-cri du chat sivela?

Ngithe i-Cree du Chat syndrome iyisifo se-chromosome . Sibangelwa ukususwa kwengxenye yengalo emfushane (ingalo ye-p) ye-chromosome inombolo 5. Esikhathini esiningi, lokhu kulahlekelwa kwalesi siqeshana se-chromosome kwenzeka ngokungahleliwe. Okusho ukuthi, kwenzeka ngengozi lapho kwakheka amangqamuzana okuzala (okungukuthi amaqanda noma isidoda) sikamama noma sikababa, noma ngesikhathi sokukhula kwengane encane. Ingane enalesi simo ngenxa 'yokususwa' okungahleliwe ingaba nama-chromosome ajwayelekile kubo bobabili abazali. Okusho ukuthi, ayizuzwa njengefa kunoma yimuphi umzali, ezimweni eziningi.

Ngabe lokhu akulona yini ifa elivela kubazali?

Ezimweni eziningi (cishe ezingu-90 kwezingu-100), i-Cree du Chat syndrome ayizuzisi njengefa. Ngakho-ke, ayikwazi ukuhlukaniswa njengeguquguqukile noma ephindaphindayo. Izingane ezinalesi simo se-5p ngokuvamile azinawo umlando womndeni walesi sifo.

Kodwa-ke, iphesenti elincane kakhulu (cishe u-10%) wezingane lizuza lokhu kukhubazeka kwe-chromosome kumzali ongathintekile. Uyazi ukuthi lokhu kwenzeka kanjani? Lowo mzali angase abe nokuthile okubizwa ngokuthi 'i-balanced translocation' kuma-chromosome akhe. Lokho kusho ukuthi akukho ukulahlekelwa noma ukwanda kwezinto zofuzo zomzali. Ngakho-ke, labo bazali ngokuvamile abanazo izinkinga zempilo. Kodwa-ke, lapho 'i-balanced translocation' izuzwa ngumntwana, ingaba 'i-unbalanced'. Yilapho-ke ingane ingase ibe nalesi simo.

Itholakala kanjani i-cre du chat syndrome?

Ngokuvamile, udokotela wengane yakho uzokubona ngokushesha ngemva kokuzalwa.Lesi simo singatholakala ngoba udokotela angabona izinto ezifana nokukhala okufana nekati engikushilo ekuqaleni kanye nezici ezikhethekile zobuso. Udokotela uzokwenza ukuhlolwa okuphelele ngokomzimba futhi ahlole izimpawu zengane. Cishe udokotela uzoncoma ukuhlolwa kwe-chromosome ukuqinisekisa ukuxilongwa.

Yiziphi izivivinyo ezenziwayo ngalokhu?

Kunezinhlobo ezintathu eziyinhloko zokuhlolwa kwezakhi zofuzo udokotela wengane yakho angazisebenzisa ukuxilonga i-cri du chat syndrome:

• Ukuhlolwa kwe-Karyotype: Lokhu kusetshenziselwa ukudala imephu yama-chromosome omntwana. Lokhu kungasetshenziswa ukubona ukuthi ingxenye ye-chromosome ayikho noma ayikho.
• Ukuhlolwa kwe-FISH: I-FISH imele 'i-fluorescence in situ hybridization.' Lokhu kuhlolwa kubheka izinguquko ezithile zofuzo noma izingcezu zofuzo emaseli engane.
• Ukuhlaziywa kwe-microarray ye-Chromosome: Ukuhlaziywa kwe-Microarray kuwukuhlolwa kwezakhi zofuzo okuqhathanisa i-DNA yengane ne-DNA yeqembu lokulawula. Kungabona ama-chromosome aphelele, izingxenye ze-chromosome, kanye nokususwa kanye nokuphindaphindwa ezindaweni ezithile kuma-chromosome.

Ingabe i-cre du chat ingelapheka?

Ngeshwa, ayikho ikhambi le-cri du chat syndrome. Kodwa-ke, ukutholakala kusenesikhathi kanye nokungenelela kusenesikhathi kungasiza ingane yakho ifinyelele amandla ayo aphelele futhi iphile impilo enenjongo. Yilokho okubaluleke kakhulu.

Iphathwa kanjani i-cre du chat syndrome?

Ukwelashwa kwe-cri du chat syndrome kuyahlukahluka kuye ngengane, njengoba kungebona bonke abantu abanezimpawu ezifanayo. Ukwelashwa cishe kuzodinga ukunakekelwa okuqhubekayo okuvela eqenjini labahlinzeki bezempilo . Ukwelashwa okuvame kakhulu ukuvuselelwa. Lokhu kufaka phakathi izinto ezifana nokwelashwa ngokomzimba, ukwelashwa emsebenzini, kanye nokwelashwa ngenkulumo.

Ukwelashwa Komzimba

Uma ingane yakho inezinkinga zokudla (isib., ubunzima bokuncela noma ukugwinya), kufanele uqale ukwelashwa ngokomzimba ngokushesha okukhulu. Ukwelashwa ngokomzimba kusiza ingane yakho ukuba ikhule ngokomzimba. Okusho ukuthi, kuyayisiza ukuthi ihlale, ime, futhi ithuthukise amakhono okunyakaza kahle.

Ukwelashwa Komsebenzi

Ukwelashwa ngokomsebenzi kusiza ingane yakho ukuthuthukisa amakhono ewadingayo ukuze ixhumane nomhlaba omzungezile ekuphileni kwansuku zonke. Lokhu kungafaka phakathi ukuthuthukisa amakhono okunyakaza komzimba, amakhono okubona, amakhono okuzinakekela, kanye namakhono okuzwa.

Ukwelashwa Kwenkulumo

Ukwelashwa ngenkulumo kusiza ngezinkinga zokuxhumana zengane. Abelaphi benkulumo bafundisa izingane izindlela ezahlukene zokuxhumana. Isibonelo, ulimi lwezandla , ukuxhumana ngosizo lobuchwepheshe, njll. Abelaphi benkulumo nabo bayasiza ngezinkinga zokudla kusukela besebancane.

Ngaphezu kwalezi zindlela zokwelapha, udokotela wengane yakho angase ancome ukuhlinzwa kwezimo ezahlukahlukene. Isibonelo, ukuhlinzwa kungalungisa izimo ezifana nokukhubazeka kwenhliziyo okuzalwa nakho, i-strabismus, kanye ne-scoliosis.

Ingabe i-cre du chat ingavinjelwa?

Ngenxa yokuthi i-cri du chat syndrome iyisimo sofuzo, asikwazi ukuyivimbela. Kodwa-ke, uma ulindele umntwana, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo . Ukwelulekwa ngofuzo kungakusiza uqonde ingozi yokuba ingane yakho ibe nesifo sofuzo.

Ingakanani impilo yengane ene-cri du chat?

Umbono wezingane eziningi ezine-Cree du Chat syndrome uyinkimbinkimbi kancane futhi ungahluka. Usayizi nendawo yengxenye engekho ye-chromosome 5 kuyisici esibalulekile ekunqumeni ikusasa lengane. Ingane yakho ingase ibe nokulinganiselwa okuthile ngokomzimba nangokwengqondo. Kodwa-ke, izingane eziningi ezine-Cree du Chat zinesikhathi esijwayelekile sokuphila.

Kodwa-ke, ezinye izingane zizalwa zinezinkinga zempilo ezingasongela impilo. Cishe u-75% walezo zingane ziyafa zingakapheli inyanga yokuqala yokuphila. Cishe u-90% wokufa kwenzeka zingakapheli unyaka wokuqala. Kodwa-ke, izinga lokufa liyehla ngemva kweminyaka embalwa yokuqala yokuphila.

Uma ubheka ikusasa lokugula kwengane , esinye sezici ezibaluleke kakhulu ukuxilongwa kusenesikhathi. Lokhu kuvumela ukuthi ukwelashwa okudingekayo kanye nokwelashwa kuqalwe ngokushesha okukhulu futhi kusize ingane iphumelele.

Kungaba nzima kakhulu ukuzwa ukuthi ingane yakho inesifo esingavamile sofuzo. Kodwa-ke, ukufunda ngalesi simo kungakunika ukulawula okuthile. I-Cre du Chat syndrome yisimo esinezimpawu ezahlukahlukene. Ngokuthola isifo kusenesikhathi kanye nokwelashwa okufanele, unganika ingane yakho umphumela ongcono kakhulu. Funda okuningi ngangokunokwenzeka ngalesi simo futhi uthole amaqembu okusekelana azokusiza. Ngokungenela kusenesikhathi kanye nokwelashwa okuqhubekayo, ingane yakho ingafinyelela amandla ayo aphelele.

Okokugcina, izinto okufanele uzikhumbule

I-Cri du Chat Syndrome ingase izwakale ingavamile, kodwa kubalulekile ukuqaphela.

• Lesi yisimo esingavamile sofuzo esibangelwa ucezu olungekho lwe-chromosome inombolo 5.
• Isici esiyinhloko ukukhala okufana nekati okuhlukile.Ngesikhathi esifanayo, izici zobuso ezikhethekile kanye nokubambezeleka kokukhula kungabonakala.
• Lokhu kuvame ukwenzeka ngengozi, hhayi into ezuzwe njengefa kubazali.
• Nakuba kungekho ikhambi lalokhu, ukuxilongwa kusenesikhathi kanye nokwelashwa okufana nokwelashwa ngokomzimba, ngokomsebenzi, kanye nokukhuluma kungathuthukisa kakhulu izinga lempilo yengane.
• Awuwedwa. Cela usizo kodokotela, abelaphi, kanye nabanye abazali abaye baba nokuhlangenwe nakho okufanayo .

Wonke umntwana uyigugu, masimsize sonke athuthukise amakhono akhe.

I- Cri du Chat Syndrome, izifo zofuzo, ama-chromosome, i-5p minus, ukukhala kwekati, ukubambezeleka kokukhula, ukwelashwa ngokomzimba, ukwelashwa ngenkulumo