Mwana wako anochema sekatsi here? Ngatidzidzei nezveCri du Chat Syndrome.

Wakamboona here kuti vacheche vacheche dzimwe nguva vanochema zvisinganzwisisike? Zvakare, pane dzimwe nguva apo chitarisiko nekukura kwezviso zvevamwe vacheche zvinoita sezvakasiyana zvishoma. Nhasi tichataura nezvechimwe chirwere chisingawanzoitiki asi chakakosha zvikuru chekuziva. Icho chinonzi 'Cri du Chat Syndrome'.

Chii chinonzi Cri du Chat Syndrome?

Zvichitaurwa zviri nyore, chirwere checri du chat syndrome chirwere chisingawanzoitiki chemajini. Chinokonzerwa nekubviswa kwechikamu chidiki chechromosome mumuviri wedu. Ungave uchishamisika kuti sei chichinzi 'cri du chat'. Izwi rechiFrench rinoreva 'kuchema kwekatsi'. Zita iri rinobva paruzha chairwo runoitwa nevana vane chirwere ichi pavanochema. Inzwi rakaderera, rakakwira, serekitsi riri kurira.

Izvi zvinonziwo '5p- syndrome' (5p minus syndrome) . Unoziva here kuti chii? Izvi zvinoreva kuti tine chromosome nhamba 5, uye chikamu chinonzi 'p' (ndiko kuti, ruoko rudiki) ndicho chikamu chandataura chisipo. Maitiro anoita iyi '5p-' syndrome kumunhu wega wega anogona kusiyana. Kureva kuti, zvichienderana nehukuru hwechikamu chechromosome chisipo uye kwachisipo, vamwe vanhu vanogona kuona zviratidzo zvakawanda kana zvishoma. Kana chikamu ichi chisipo zvakanyanya kune vamwe vacheche, zviratidzo zvinogona kunge zvakanyanya.

Nyaya iyi yekutaura nevanhu vakawanda yakajairika zvakadii?

Kutaura zvazviri, chirwere cheCree du Chat chirwere chisingawanzoitiki . Zvisinei, ndechimwe chezvirwere zvinonyanya kutaurwa zvinokonzerwa nekusarongeka kwemachromosome. Fungidzira, munyika yakaita seAmerica, mwana mumwe chete anozvarwa aine chirwere ichi pavana vacheche 15,000 kusvika 50,000. Izvi zvinoreva kuti vana vanosvika 50 kusvika 60 pagore. Saka, kune mikana yekuona zvirwere zvakadaro muSri Lanka zvakare.

Ndezvipi zviratidzo zvechirwere checri du chat?

Zviratidzo zvechirwere ichi zvinogona kusiyana zvakanyanya, sezvandambotaura. Zvisinei, chiratidzo chikuru uye chinowanzoonekwa ndechekuti kuchema kwakasiyana, kwakaderera, uye kwakakwirira. Kwakafanana nekuchema kwekatsi. Ruzha urwu runonyatsoonekwa mumavhiki mashoma ekutanga mushure mekuzvarwa. Zvisinei, sezvo mwana achikura, kusiyana kweruzha urwu kunogona kusanyanya kuoneka.

Uye zvakare, mwana wako anogona kuona zvinhu zvakasiyana-siyana zvechiso :

• Musoro mudiki pane wakajairwa (microcephaly).
• Chiso chakatenderera zvisingawanzoitiki.
• Mhino yakafara.
• Kureba pakati pemaziso kwakakura kupfuura zvakajairwa (hypertelorism).
• Maziso akapatsanurwa (strabismus).
• Maziso emaziso akakotama pasi (palpebral fissures).
• Kuva neganda rakapetwa pakona yemukati meziso (maziso akafanana).
• Nzeve dziri pasi penguva yakatarwa.
• Shaya diki risingawanzoitiki (micrognathia).
• Pakati pemuromo wepamusoro nemhinoPhiltrum pfupi zvisingawanzoitiki.

Mwana paanokura, kuzara kwechiso kunogona kudzikira, uye chiso chinogona kureba uye kutetepa zvisingawanzoitiki.

Zvimwe zviratidzo zvinogona kuonekwa zvinosanganisira:

• Kuberekwa kusina huremu hwakakwana.
• Kunonoka kukura.
• Matambudziko ekudya. Semuenzaniso, kutadza kuyamwa, kuoma kumedza (dysphagia), uye reflux esophagitis (GERD).
• Kushaya simba kwetsandanyama (hypotonia).
• Kurwara neScoliosis.
• Zvikanganiso zvemwoyo.
• Kunonoka mukukura kwemwana kwakadai sekudzora musoro, kugara, uye kufamba.
• Kunonoka pakutaura neunyanzvi hwemutauro.
• Kuremara kwepfungwa kuri pakati nepakati kusvika kwakanyanya.

Chinhu chakakosha ndechekuti havasi vana vese vane hunhu uhwu. Vamwe vacheche vanogona kunge vaine hunhu hushoma chete.

Sei chirwere ichi checri du chat chichiitika?

Ndakati chirwere cheCree du Chat chirwere chechromosome . Chinokonzerwa nekubviswa kwechikamu cheruoko rupfupi (p arm) chechromosome nhamba 5. Kazhinji, kurasikirwa uku kwechikamu ichi chechromosome kunoitika zvisina tsarukano. Kureva kuti, zvinoitika netsaona kana masero ekubereka (kureva mazai kana urume) hwaamai kana baba akaumbwa, kana panguva yekukura kwekutanga kwemwana asati aberekwa. Mwana ane chirwere ichi nekuda kwe'deletion' isina tsarukano anogona kuva nemachromosome akajairwa kubva kuvabereki vese. Kureva kuti, haagari nhaka kubva kumubereki chero upi zvake, kazhinji.

Saka izvi hazvigamuchirwi kubva kuvabereki here?

Kazhinji (anenge 90 pa100), chirwere cheCree du Chat hachina kugarwa nhaka. Saka, hachigoni kuverengerwa sechinotonga kana kuti chinodzokorodza. Vana vane chirwere ichi che5p- kazhinji havana nhoroondo yemhuri yechirwere ichi.

Zvisinei, chikamu chidiki kwazvo (chinenge 10%) chevana chinogara nhaka iyi chromosome abnormality kubva kumubereki asina dambudziko. Unoziva here kuti izvi zvinoitika sei? Mubereki iyeye anogona kunge aine chimwe chinhu chinonzi 'balanced translocation' mumachromosome avo. Izvi zvinoreva kuti hapana kurasikirwa kana kuwedzera kwemajini emubereki. Nokudaro, vabereki ivavo havawanzova nematambudziko ehutano. Zvisinei, kana 'balanced translocation' iyi ikagara nhaka nemwana, inogona 'kusaenzana'. Ndipo panogona kunge paine mwana ane chirwere ichi.

Chirwere che cre du chat chinowanikwa sei?

Kazhinji, chiremba wemwana wako achakuona mushure mekuzvarwa.Dambudziko iri rinogona kuonekwa nekuti chiremba anogona kuona zvinhu zvakaita sekuchema kwakaita sekatsi kwandambotaura nezvako uye chimiro chechiso chakakosha. Chiremba achaita bvunzo yakakwana yemuviri uye kuongorora zviratidzo zvemwana. Zvingangoita kuti chiremba anokurudzira kuongororwa kwemachromosome kuti asimbise chirwere chacho.

Ndedzipi bvunzo dziri kuitwa pakuita izvi?

Kune mhando nhatu huru dzekuongororwa kwemajini dzinogona kushandiswa nachiremba wemwana wako kuongorora chirwere cheCree du Chat:

• Kuongororwa kweKaryotype: Izvi zvinoshandiswa kugadzira mepu yemachromosome emwana. Izvi zvinogona kushandiswa kuona kana chikamu chechromosome chisipo kana kuti chisipo.
• Kuongororwa kwehove: FISH inomiririra 'fluorescence in situ hybridization.' Kuongororwa uku kunotsvaga shanduko chaiyo yemajini kana zvidimbu zvemajini mumasero emwana.
• Kuongororwa kwekromosome microarray: Kuongororwa kwemicroarray bvunzo yemajini inoenzanisa DNA yemwana neDNA yeboka rinodzora. Inogona kuona machromosome ese, zvikamu zvekromosome, uye kubviswa uye kudzokororwa panzvimbo dzakatarwa pamakromosome.

Ko cre du chat inogona kurapwa here?

Zvinosuwisa kuti hapana mushonga wechirwere checri du chat. Zvisinei, kuzivikanwa nekukurumidza uye kupindira nekukurumidza kunogona kubatsira mwana wako kusvika pakukwanisa kwake kwakazara uye kurarama hupenyu hune chinangwa. Ndizvo zvinonyanya kukosha.

Chirwere cheCre du Chat Syndrome chinorapwa sei?

Kurapa kwechirwere checri du chat syndrome kunosiyana kubva pamwana kuenda kumwana, sezvo vasiri vese vane zviratidzo zvakafanana. Kurapa kungangoda kutarisirwa nguva dzose kubva kuchikwata chevanopa hutano . Kurapa kwakajairika ndeyekurapwa . Izvi zvinosanganisira zvinhu zvakaita sekurapa muviri, kurapwa kwebasa, uye kurapwa kwekutaura.

Kurapa Kwemuviri

Kana mwana wako aine matambudziko ekudya (semuenzaniso, kunetseka nekuyamwa kana kumedza), unofanira kutanga kurapwa nemuviri nekukurumidza sezvinobvira. Kurapa nemuviri kunobatsirawo mwana wako kukura mumuviri. Kureva kuti, kunomubatsira kugara, kumira, uye kukudziridza hunyanzvi hwekufamba nemuviri.

Kurapa Kwebasa

Kurapwa nebasa kunobatsira mwana wako kukudziridza hunyanzvi hwaanoda kuti ashande nenyika yakamupoteredza muhupenyu hwezuva nezuva. Izvi zvinogona kusanganisira kukudziridza hunyanzvi hwekufambisa nhengo dzemuviri, hunyanzvi hwekuona, hunyanzvi hwekuzvitarisira, uye hunyanzvi hwekunzwa.

Kurapa Kwekutaura

Kurapa nekutaura kunobatsira pamatambudziko ekutaurirana kwemwana. Vanachiremba vekutaura vanodzidzisa vana nzira dzakasiyana dzekutaurirana. Semuenzaniso, mutauro wemasaini , kutaurirana nerubatsiro rwetekinoroji, nezvimwewo. Vanachiremba vekutaura vanobatsirawo pamatambudziko ekudya kubva pazera diki.

Pamusoro pekurapa uku, chiremba wemwana wako anogona kukurudzira kuvhiyiwa kwezvirwere zvakasiyana-siyana. Semuenzaniso, kuvhiyiwa kunogona kugadzirisa zvirwere zvakaita sezvirwere zvemwoyo zvekuzvarwa nazvo, strabismus, uye scoliosis.

Ko cre du chat inogona kudzivirirwa here?

Nekuti cri du chat syndrome chirwere chinokonzerwa nemajini, hatigone kuchidzivirira. Zvisinei, kana uri kutarisira mwana, zvakanaka kutaura nachiremba wako nezvemajini . Kupa mazano emajini kunogona kukubatsira kunzwisisa njodzi yekuti mwana wako ave nechirwere chemajini.

Mwana ane cri du chat anorarama kwenguva yakareba sei?

Maonero evana vazhinji vane chirwere cheCree du Chat akaoma uye anogona kusiyana. Saizi nenzvimbo yechikamu chisipo chechromosome 5 chinhu chikuru pakusarudza ramangwana remwana. Mwana wako anogona kunge aine zvimwe zvinomutadzisa mumuviri nepfungwa. Zvisinei, vana vazhinji vane Cree du Chat vane nguva yekurarama yakajairika.

Zvisinei, vamwe vacheche vanoberekwa vaine matambudziko ehutano anogona kuisa hupenyu panjodzi. Vanenge 75% yevana vakadaro vanofa mukati memwedzi wekutanga wehupenyu. Vanenge 90% yevakafa vanofa mukati megore rekutanga. Zvisinei, huwandu hwevanofa hunoderera mushure memakore mashoma ekutanga ehupenyu.

Kana tichitarisa ramangwana rechirwere chemwana , chimwe chezvinhu zvinonyanya kukosha kuongororwa chirwere ichi nekukurumidza. Izvi zvinoita kuti kurapwa kwakakodzera uye kurapwa kutange nekukurumidza uye kubatsira mwana kubudirira.

Zvinogona kunetsa kuziva kuti mwana wako ane chirwere chisingawanzoitiki chemajini. Zvisinei, kudzidza nezvechirwere ichi kunogona kukupa simba rekutonga. Cre du Chat syndrome chirwere chine zviratidzo zvakasiyana-siyana. Nekuongororwa nekukurumidza uye kurapwa kwakakodzera, unogona kupa mwana wako mhedzisiro yakanakisisa. Dzidza zvakawanda sezvaunokwanisa nezvechirwere ichi uye tsvaga mapoka ekutsigira kuti akubatsire. Nekupindira nekukurumidza uye kurapwa kuri kuenderera mberi, mwana wako anogona kusvika pakukwanisa kwake kwakazara.

Pakupedzisira, zvinhu zvekurangarira

Chirwere cheCri du Chat Syndrome chinganzwika sechinhu chinoshamisa, asi zvakakosha kuziva nezvazvo.

• Ichi chirwere chisingawanzoitiki chinokonzerwa nekushaikwa kwechikamu chechromosome nhamba 5.
• Hunhu hukuru kuchema kwakafanana nekwekatsi.Panguva imwe chete, zvinhu zvakasiyana-siyana zvechiso uye kunonoka kukura kwemwana zvinogona kuonekwa.
• Izvi zvinowanzoitika netsaona, kwete chimwe chinhu chakagarwa nhaka kubva kuvabereki.
• Kunyangwe pasina mushonga weizvi, kuongororwa nekukurumidza uye kurapwa kwakadai sekurapa kwemuviri, kwemabasa, uye kwekutaura kunogona kuvandudza hupenyu hwemwana zvakanyanya.
• Hausi wega. Tsvaga rubatsiro kubva kuna vanachiremba, varapi, nevamwe vabereki vakambosanganawo nedambudziko rakafanana .

Mwana wese anokosha, ngatimubatsirei kukudziridza kugona kwake.

` Cri du Chat Syndrome, zvirwere zvemajini, machromosome, 5p minus, kuchema kwekatsi, kunonoka kukura, physiotherapy, kutaura