Rett Syndrome Ndiyoi? Zviratidzo, Zvinokonzera, Uye Kurapwa

Rett syndrome chirwere chisingawanzoitika chinokanganisa uropi, kufamba, nekukurukura, kunyanya kukanganisa vasikana. Inowanzooneka mukati memakore maviri ekutanga ehupenyu, mushure mekukura kwakafanana nekwemwana wese.

Vana vakawanda vane Rett syndrome vanokura zvakanaka kwemavhiki matanhatu kusvika gumi nemasere. Zvadaro vanotanga kurasikirwa nehunhu hwavaive nahwo, sekufamba, kutaura, kana kushandisa maoko avo. Kunyange zvazvo izvi zvingaita sezvinotyisa kumhuri, kunzwisisa Rett syndrome kunokubatsira kuziva zvaunofanira kutarisira uye kuti ungabatsira sei zvakanyanya.

Rett Syndrome Ndiyoi?

Rett syndrome chirwere chinokanganisa kukura kwehuropi chinokonzerwa nekusashanda zvakanaka kwegene rinonzi MECP2. Gene iri rinopa mirairo yekugadzira protein inokosha pakushanda kwakanaka kwehuropi nekukura.

Chirwere ichi chinowanzoonekwa kuvasikana nekuti gene iri iri pachikamu cheX chromosome. Vasikana vane maX chromosomes maviri, saka vanogona dzimwe nguva kuzvidzivirira kubva pane gene risina kushanda zvakanaka. Vakomana, vane X chromosome rimwe chete, kazhinji havapori kana vakaita shanduko iyi yegene.

Rett syndrome inokanganisa anenge musikana mumwe chete pane 10,000 kusvika 15,000 pasi rose. Inofungwa seimwe yezvinokonzera zvakanyanya kushaya pfungwa kuvasikana. Chirwere ichi chakatsanangurwa kekutanga naDr. Andreas Rett muna 1966, kunyange zvazvo chisina kuzivikanwa zvakanyanya kusvika kuma1980s.

Zviratidzo zveRett Syndrome Ndezvipi?

Zviratidzo zveRett syndrome zvinowanzooneka zvishoma nezvishoma, nevana vakawanda vachiratidza zviratidzo pakati pemwedzi mitanhatu nemakore maviri ekuberekwa. Chiitiko chemwana mumwe nemumwe chinogona kusiyana, asi kune maitiro akafanana anobatsira vanachiremba kuziva chirwere ichi.

Zviratidzo zvinonyanya kuzivikanwa zvinosanganisira:

• Kurasikirwa nekushandisa maoko nechinangwa, kuchinjaniswa nekuita zvinhu zvakafanana nemaoko sekukwenya, kurova maoko, kana kubaya.
• Kukura kwakaderera, kunyanya kukura kwemusoro (microcephaly).
• Kurasikirwa nekutaura nekukurukura.
• Matambudziko ekufamba kana kurasikirwa nekufamba.
• Kuita zvinhu zvakafanana, kunyanya nemaoko nemakumbo.
• Kushaya mweya kwakasiyana-siyana, kusanganisira kubata mweya kana kufema zvakanyanya pavanenge vakamuka.
• Matambudziko ekurara uye shanduko mumaitiro ekurara.
• Kuita zvirwere zvekutambudzika, izvo zvinoitika muanenge 60-80% yevanhu.
• Scoliosis (musana wakakombama) unowanzoitika nekufamba kwenguva.
• Matambudziko emudumbu, kusanganisira kuvimba uye matambudziko ekudya.

Zviratidzo zvisingawanzoitika asi zvinogona kuitika zvinosanganisira kukwenya mazino, maoko nemakumbo anotonhora, uye nguva dzekuchema kwakasimba. Vamwe vana vanogonawo kuona nguva dzekutaura zvakanyanya kana kuita sevanomuka uye vanobatanidzwa zvakanyanya panguva dzakati.

Zvakakosha kuyeuka kuti kunyange zvazvo izvi zviratidzo zvingava zvakaoma, vana vakawanda vane Rett syndrome vanoramba vachidzidza uye vachikura nenzira yavo. Kazhinji vanoramba vaine simba rekuziva uye kubatana nevanhu vanovada, kunyange kana vasina kukwanisa kutaura.

Marudzi eRett Syndrome Ndezvipi?

Rett syndrome kazhinji inoparadzaniswa kuva marudzi maviri makuru zvichienderana nekusashanda zvakanaka kwegene uye nguva iyo zviratidzo zvinooneka. Kunzwisisa marudzi aya kunobatsira vanachiremba kupa kurapwa kwakakodzera uye kunobatsira mhuri kuziva zvaunofanira kutarisira.

Classic Rett syndrome ndiyo inonyanya kuitika, ichitungamira anenge 85% yezviitiko. Vana vane rudzi urwu vanowanzo kukura zvakanaka kwemavhiki matanhatu kusvika gumi nemasere, zvadaro vanotanga kurasikirwa nehunhu hwavaive nahwo. Vanoratidza kufamba kwemaoko kwakajairika nezvimwe zviratidzo zvakajairika zvakatsanangurwa pamusoro.

Atypical Rett syndrome inosanganisira shanduko dzakasiyana-siyana dzisingatevedzere muenzaniso wekare. Izvi zvinogona kusanganisira kuchengetedza kutaura (uye mamwe maitiro ekukurukura anoramba aripo), kuita zvirwere zvekutambudzika pakutanga (uye zvirwere zvekutambudzika zvinoitika pakutanga), kana congenital variant (uye zviratidzo zviripo kubva pakuberekwa). Aya maitiro anogona kunge ari nyoro kana akaomarara kupfuura classic Rett syndrome.

Panewo chirwere chinonzi Rett-like syndrome, chine zvimwe zviratidzo zvakafanana neRett syndrome asi chinokonzerwa nekusashanda zvakanaka kwemamwe magene. Izvi zvinobatsira vanachiremba kunzwisisa kuti zviratidzo zvakafanana zvinogona kuva nezvikonzero zvakasiyana-siyana.

Chii Chinokonzera Rett Syndrome?

Rett syndrome inokonzerwa nekusashanda zvakanaka kweMECP2 gene, iri paX chromosome. Gene iri rinopa mirairo yekugadzira protein inobatsira kudzora mamwe magene muhuropi.

Muzviitiko zvakawanda, anenge 99% yenguva, shanduko yegene inoitika kamwe kamwe. Izvi zvinoreva kuti haina kuwanikwa kubva kuvabereki asi inoitika kamwe kamwe panguva yekugadzira masero ekuberekesa kana pakutanga kwekukura kwemwana. Vabereki havaiti chirwere ichi, uye kazhinji hapana chavaigona kuita kuti vadzivise.

Zvisingawanzoitika, pasi pe1% yezviitiko, Rett syndrome inogona kuwanikwa kubva kunaamai vane shanduko yegene. Amai ava kazhinji vane zviratidzo zvishoma kana kuti hapana zviratidzo zvachose nekuda kwemaitiro anonzi X-inactivation, apo X chromosome rimwe rinodzimwa mune imwe sero.

MECP2 protein kazhinji inobatsira kudzora nguva iyo mamwe magene anovhurwa kana kudzimwa mumasero ehuropi. Kana iyi protein isina kushanda zvakanaka, inokanganisa kukura kwakanaka kwehuropi uye kushanda, ichitungamira muzviratidzo zveRett syndrome.

Rini Unofanira Kuona Chiremba Nezve Rett Syndrome?

Unofanira kubata nachiremba wemwana wako kana ukaona kurasikirwa nehunhu hwemwana wako kana kuti kukura kwake kwakaderera. Kuziva pakutanga kunobatsira kuve nechokwadi chekuti mwana wako anowana rubatsiro rwakakodzera nekukurumidza sezvinobvira.

Zviratidzo zvakakosha zvinoda kutarisirwa nekukurumidza zvinosanganisira kurasikirwa nekushandisa maoko nechinangwa, kukura kwemusoro kwakaderera, kana kurasikirwa nehunhu hwekukurukura hwemwana wako. Kana mwana wako akarega kutaura, akarasikirwa kufarira mutambo, kana kutanga kuita zvinhu zvakafanana nemaoko, izvi zviratidzo zvakakosha zvekukurukura nachiremba wemwana wako.

Unofanirawo kutsvaka kurapwa kana mwana wako akaita kushaya mweya kwakasiyana-siyana, zvirwere zvekutambudzika, kana matambudziko ekurara. Matambudziko ekudya, shanduko huru mumaitiro emuviri, kana kudzoka kumashure mumaitiro ekufamba zvinodawo kuongororwa nachiremba.

Usamirira kana uine hanya nekukura kwemwana wako. Tenda pfungwa dzako semubereki. Rubatsiro rwekutanga runogona kuita musiyano mukuru mukubatsira vana vane Rett syndrome kusvika pakukura kwavo kwakazara, kunyange usati waziva zvizere chirwere chacho.

Zvinokonzera Ngozi dzeRett Syndrome Ndezvipi?

Chinokonzera ngozi huru yeRett syndrome kuva musikana, sezvo chirwere ichi chinowanzo kukanganisa vasikana. Izvi zvinoitika nekuti MECP2 gene iri paX chromosome, uye vasikana vane maX chromosomes maviri nepo vakomana vane rimwe chete.

Zera rimwe zano rekufunga nezvaro. Zviitiko zvakawanda zveRett syndrome zvinoongororwa pakati pemwedzi mitanhatu nemakore mana ekuberekwa, kazhinji kana kudzoka kumashure kukura kwava pachena. Chirwere ichi hachioneke zvakanyanya kunze kwehudiki.

Nhoroondo yemhuri ine basa diki kwazvo, sezvo zviitiko zvakawanda zvinoitika kamwe kamwe. Nekudaro, kana amai vane shanduko yeMECP2 gene, pane mukana we50% wekuipasa kumwana wese. Kunyangwe zvakadaro, kukomba kunogona kusiyana zvikuru.

Hapana zvinokonzera ngozi zveRett syndrome zvinozivikanwa. Chirwere ichi hachina kukonzerwa nechinhu chakaitwa kana chisina kuitwa nevabereki panguva yekuzvitakura, uye hachina hukama nehutachiona, kukuvara, kana zvimwe zvinhu zvekune dzimwe nyika. Izvi zvinogona kupa zororo kumhuri dzinozvibvunza kana vaigona kudzivirira chirwere ichi.

Matambudziko Anogona Kuitika eRett Syndrome Ndezvipi?

Kunyangwe Rett syndrome pachayo iri dambudziko guru, matambudziko akawanda anogona kuitika nekufamba kwenguva anoda kutarisirwa nekutarisirwa. Kunzwisisa izvi kunobatsira mhuri kugadzirira uye kutsvaka rubatsiro rwakakodzera.

Matambudziko akajairika anowanikwa nemhuri dzakawanda anosanganisira:

• Zvirwere zvekutambudzika, izvo zvinoita 60-80% yevanhu uye zvinoda kurapwa nemishonga.
• Scoliosis (musana wakakombama) unowanzoipisisa nekuwedzera kwezera uye unogona kuda kuiswa bhandi kana kuvhiyiwa.
• Matambudziko ekufemba, kusanganisira maitiro ekufemba asingawanzoitika uye sleep apnea.
• Matambudziko ekudya uye matambudziko ekudya anogona kuda kudya kwakasarudzika kana mabhuro.
• Matambudziko emudumbu, kunyanya kuvimba kwakasimba.
• Matambudziko ekurara anogona kukanganisa mhuri yese.
• Kuora mafupa uye ngozi yakawedzera yekuputsika.
• Matambudziko emwoyo, anowanikwa kune vamwe vanhu.

Matambudziko asingawanzoitika asi akakomba anogona kusanganisira gastroesophageal reflux yakakomba, matambudziko e gallbladder, kana rufu rusina kutarisirwa, kunyange zvazvo rufu rusina kutarisirwa rushoma. Vamwe vanhu vanogonawo kuita kunetseka kana matambudziko ekufunga sezvo vakura.

Mashoko akanaka ndeawo kuti nerubatsiro rwakakodzera rwechiremba uye rubatsiro, matambudziko akawanda aya anogona kutarisirwa zvakanaka. Kuongororwa nguva dzose uye timu yekurapa inobatana inogona kubatsira kudzivirira matambudziko kana kuawana pakutanga apo kurapwa kunonyanya kushanda.

Rett Syndrome Inoziviswa Sei?

Kuziva Rett syndrome kunosanganisira kucherechedza kukura kwemwana wako uye bvunzo chaiyo yekusimbisa chikonzero chegene. Maitiro acho anowanzo tanga kana vanachiremba vakaona muenzaniso wekukura kwakanaka pakutanga kwakateverwa nekudzokera kumashure.

Chiremba wako anotanga nekutaura nhoroondo yakakwana yezvokurapa uye kuita bvunzo yakakwana yemuviri. Vanoda kuziva nezvekukura kwemwana wako pakutanga, nguva iyo zviratidzo zvakaratidza, uye kuti zvakafamba sei nekufamba kwenguva. Izvi zvinovabatsira kunzwisisa maitiro eshanduko.

Kuziva zvizere kunobva kubvunzo yegene, kunyanya kutsvaga shanduko muMECP2 gene. Izvi zvinowanzoitwa nebvunzo yeropa iri nyore. Bvunzo yegene inosimudzira kuziva muanenge 95% yevasikana vane zviratidzo zveRett syndrome.

Bvunzo dzimwe dzinosanganisira bvunzo dzehuropi senge MRI, dzinoshanduka zvishoma pakutanga, uye EEG bvunzo yekutarisa kuita zvirwere zvekutambudzika. Chiremba wako anogonawo kukurudzira kuongororwa nevanachiremba vakasiyana-siyana senge neurologists, geneticists, kana developmental pediatricians kuti vawane ruzivo rwakakwana nezve mamiriro emwana wako.

Kurapwa kweRett Syndrome Ndeapi?

Parizvino, hapana mushonga weRett syndrome, asi kurapwa kwakasiyana-siyana kunogona kubatsira kutarisira zviratidzo uye kuvandudza hupenyu. Chinangwa ndechekubatsira mwana wako kusvika pakukura kwavo kwakazara nepo vachigara vakasununguka uye vakagwinya.

Kurapwa kazhinji kunosanganisira timu yevanachiremba vakasiyana-siyana vanoshanda pamwe chete. Izvi zvinogona kusanganisira neurologists yekutarisira zvirwere zvekutambudzika, orthopedic doctors yematambudziko emafupa nemisana, uye vanachiremba vekurapa yekutsigira kukura. Kuva nechikwata chinobatana chinoita kuti zvese zvikamu zvehupenyu hwemwana wako zvitarisirwe.

Kurapwa kwemishonga kunotarisa pakutarisira zviratidzo zvakakosha:

• Mishonga yekudzivirira zvirwere zvekutambudzika kana zvirwere zvekutambudzika zviripo.
• Mishonga yematambudziko ekufemba kana matambudziko emwoyo.
• Kurapwa kwematambudziko emudumbu senge kuvimba kana reflux.
• Rubatsiro rwekudya, izvo zvinogona kusanganisira kudya kwakasarudzika kana mabhuro.
• Mishonga yekurara kana matambudziko ekurara akakomba.

Kurapwa kunokosha kwazvo mukuchengetedza basa uye kunyaradza. Kurapa kwemuviri kunobatsira kuchengetedza kufamba uye kudzivirira kuoma kwemisungo. Kurapa kwemabasa kunotarisa pane maitiro ehupenyu hwezuva nezuva uye kushanda kwemaoko. Kurapa kutaura, kunyange kudzoreredzwa kutaura kuri shoma, kunogona kubatsira nekukurukura nenzira dzakasiyana-siyana.

Ongororo yapfuura yakaratidza tariro nemishonga mitsva. Gene therapy nezvimwe zvinhu zviri kuongororwa, zvichipa tariro yekurapwa kwakanyanya kunaka munguva yemberi.

Maitiro Ekutarisira Kumba Panguva yeRett Syndrome?

Kuita imba inotsigira kunogona kuita musiyano mukuru mukunyaradzwa kwemwana wako nekukura. Kuita shanduko nyore uye maitiro kunogona kubatsira mwana wako kukura nepo kuchideredza kushushikana kumhuri yese.

Maitiro ezuva nezuva ekutarisira anofanira kutarisa pakuchengetedza hunhu hwemwana wako nepo uchitsigira matambudziko avo. Izvi zvinosanganisira kuisa nguva dzakatarwa dzekudya nezvokudya zviri nyore kumira, kuita nzvimbo dzakanyarara dzinoshoromoka, uye kuchengetedza maitiro ekurara kuti abatsire matambudziko ekurara.

Kuita shanduko dzezvakachengeteka mumba mako zvinhu zvakakosha zvekufunga nezvazvo. Izvi zvinogona kusanganisira kuisa zvinhu zvinodzivirira makona akapinza, kuchengetedza fenicha inogona kudonha, uye kuisa gezi dzakachengeteka kana mwana wako achifamba. Kana mwana wako aine zvirwere zvekutambudzika, funga nezve zvipfeko zvinodzivirira uye ita shuwa kuti nhengo dzemhuri dzinoziva zvekutanga kubatsira kana mwana wako akaita zvirwere zvekutambudzika.

Nzira dzekukurukura dzinogona kukubatsira kuramba uine hukama nemwana wako. Vana vakawanda vane Rett syndrome vanonzwisisa zvakawanda kupfuura zvavanogona kutaura. Shanyira mutauro wakapusa, vape nguva yekupindura, uye tarisa zviratidzo zvisina kutaurwa senge kufamba kwemaziso kana kutarisa kumeso. Mamwe mhuri anowana kubudirira nezvishandiso zvekutaura kana mabhodhi emifananidzo.

Usakanganwa kutarisira iwe nemhuri yako. Kutarisira mwana ane Rett syndrome kunogona kunetsa muviri nemwoyo. Tsvaka rubatsiro kubva kune dzimwe mhuri, funga nezvekuzorora, uye yeuka kuti kuzorora kunokubatsira kupa rubatsiro rwakanyanya kwenguva refu.

Ungagadzirira Sei Kuona Chiremba?

Kugadzirira kuona vanachiremba kunogona kubatsira kuve nechokwadi chekuti unowana zvakanyanya kubva panguva yako nevanachiremba. Kugadzirira zvakanaka kunobatsira vanachiremba kunzwisisa mamiriro emwana wako zviri nani uye kuita sarudzo dzakarurama dzekurapa.

Usati waenda kuna chiremba, nyora shanduko dzawakaona muzviratidzo, maitiro, kana hunhu hwemwana wako. Chengetedza dhiari yakapusa yezvinhu senge huwandu hwezvirwere zvekutambudzika, maitiro ekurara, maitiro ekudya, kana maitiro matsva. Iyi ruzivo inobatsira vanachiremba kutevera kufambira mberi kwemwana wako uye kugadzirisa kurapwa sezvinodiwa.

Uya neruzivo rwemishonga yese iri kushandiswa, kusanganisira huwandu hwemishonga uye nguva yavanoipiwa. Sanganisirawo zvese zvinowedzerwa, mishonga yekutengesa, kana kurapwa kwakasiyana-siyana kuri kushandiswa. Izvi zvinobatsira kudzivirira kusanganiswa kwemishonga kunogona kukuvadza uye kuve nechokwadi chekuti kurapwa kwese kunoshanda pamwe chete zvakanaka.

Gadzirira mibvunzo yako usati waenda. Nyora zvinhu zvinokunetsa zvikuru pakutanga, sezvo nguva yekuona chiremba ingave shoma. Bvunza nezvezviratidzo zvinokunetsa, nzira dzekurapa, kana zviwanikwa zvekuwedzera rubatsiro. Usazengurire kubvunza kuti ujekeswe kana mazwi echiremba akanyanya kuoma.

Funga kuuya nemumwe wemhuri kana shamwari yekutsigira, kunyanya kune zviitiko zvikuru. Vanogona kukubatsira kuyeuka ruzivo rwakataurwa uye kupa rutsigiro rwepfungwa. Mamwe mhuri anowana kubatsirwa nekunyora zvikamu zvikuru zvehurukuro (nerubvumo) kuti aongorore gare gare.

Chii Chinonyanya Kukosha Nezve Rett Syndrome?

Rett syndrome chirwere chinotyisa, asi kunzwisisa kunopa simba kumhuri yekupa rubatsiro rwakanyanya uye rutsigiro. Kunyangwe chirwere ichi chikakonzera matambudziko makuru, vana vakawanda vane Rett syndrome vanoramba vachidzidza, vachikura, uye vachigadzira hukama hunoremekedzwa nemhuri dzavo.

Chinhu chakakosha chokuyeuka ndechekuti mwana wako akaramba ari mwana wako, pasinei nechirwere chake. Vanogona kutaura nenzira yakasiyana uye vanoda rubatsiro rwakawanda, asi kazhinji vanonzwisisa uye vanonzwa zvakawanda kupfuura zvavanogona kutaura. Rudo rwako, kushivirira, uye kutsigira zvinoita musiyano mukuru muhupenyu hwavo.

Ongororo yeRett syndrome inoramba ichifambira mberi, nemishonga mitsva iri kuongororwa uye kukura. Kunyangwe tisingazivi mushonga, tarisiro inoramba ichivandudza sezvatinodzidza zvakawanda nezve chirwere ichi uye tichigadzira nzira dzakanaka dzekutarisira zviratidzo zvacho.

Yeuka kuti haufanire kufamba rwendo urwu uri wega. Mhuri dzinotsigirana, mapoka echiremba, nezvimwe zviwanikwa zviripo kukubatsira iwe nemhuri yako. Kushandisa izvi zviwanikwa kunogona kupa rubatsiro rwakakosha uye rutsigiro rwepfungwa panguva dzakaoma.

Mibvunzo Inowanzo Bvunzwa Nezve Rett Syndrome

Rett syndrome inogona kudzivirirwa here?

Rett syndrome haigone kudzivirirwa sezvo inokonzerwa nekusashanda zvakanaka kwegene kunoitika kamwe kamwe. Muzviitiko zvisingawanzoitika apo inowanikwa, genetic counseling inogona kubatsira mhuri kunzwisisa njodzi dzavo, asi zviitiko zvakawanda zvinoitika pasina nhoroondo yemhuri yeiyi chirwere.

Vana vane Rett syndrome vanonzwisisa zviri kuitika kwavari here?

Hongu, vana vakawanda vane Rett syndrome vanonzwisisa zvakawanda kupfuura zvavanogona kutaura. Kazhinji vanoramba vaine simba rekuziva nhengo dzemhuri, kupindura mazwi anozivikanwa, uye kuratidza zvavanofarira zvimwe zvinhu kana vanhu. Unyanzvi hwavo hwepfungwa hunogona kuchengetedzwa zviri nani kupfuura zviratidzo zvavo zvemuviri zvinoratidza.

Urefu hweupenyu hweumwe munhu ane Rett syndrome ndihupi?

Vanhu vakawanda vane Rett syndrome vanorarama kusvika pakuva vakuru, vamwe vachirarama kusvika kumakore makumi mana, makumi mashanu, kana kupfuura. Urefu hweupenyu hunotsamira pakukomba kwezviratidzo uye kuti matambudziko anotarisirwa sei zvakanaka. Kurapwa kwakanaka kwemishonga uye rubatsiro zvinogona kuvandudza zvakanyanya hupenyu uye urefu hweupenyu.

Mwana wangu ane Rett syndrome achaenda kuchikoro here?

Vana vakawanda vane Rett syndrome vanogona kuenda kuchikoro nerubatsiro rwakakodzera uye kugadziriswa. Mapurogiramu ekudzidzisa akasarudzika anogona kugadzirirwa zvinodiwa nemwana mumwe nemumwe, achitarisa pane zvinhu zvavanogona kuita. Chirongwa chekudzidzisa chinokosha chinotsamira pazviratidzo zvemwana wako uye zvaanogona kuita.

Pane tariro yemishonga mitsva yeRett syndrome here?

Hongu, ongororo yemishonga yeRett syndrome iri kushanda zvakanyanya uye ine tariro. Masayendisiti ari kuongorora gene therapy, mishonga yakatarwa, nezvimwe zvinhu zvitsva. Kunyangwe aya mishonga ichiri kuongororwa, ongororo iyi inopa tariro yemishonga inonyanya kushanda mumakore ari kuuya.