Mwanasikana wenyu ane matambudziko ekukura here? Totaura nezveRett Syndrome here?

Mwana wako mudiki, kunyanya musikana, angangodaro akaona kunonoka kukura kana kuoma kuita zvinhu zvaaimboita. Fungidzira, mwana aifamba zvakanaka kwemwedzi inenge mitanhatu anongoerekana arega kudzidza zvinhu zvitsva uye anotokanganwa zvinhu zvaakadzidza kare. Zvakajairika kuti amai kana baba vanzwe kutya uye kunetseka zvikuru pavanoona chimwe chinhu chakadai. Nhasi tichataura nezvechirwere chisingawanzoitiki, asi chakakosha kuziva, chinonyanya kubata vasikana. Ichi ndicho chatinodaidza kuti Rett Syndrome .

Chii chinonzi Rett Syndrome? Zvichitaurwa zviri nyore...

Zvichitaurwa zviri nyore, Rett Syndrome chirwere chisingawanzoitiki chemajini uye chetsinga . Chinonyanya kubata vasikana. Chinokonzerwa nekuchinja kwemajini mumuviri wedu, kunyanya jini rinonzi `MECP2`. Iri jini re`MECP2` rine basa rakakosha mukukura kwehuropi hwedu uye kuchinjana kwemashoko pakati pemasero etsinga, kureva kubatana pakati pemasero etsinga (synapse) . Saka, kana paine shanduko mujini iri, inokanganisa kukura kwehuropi hwemwana.

Mumamiriro ezvinhu aya, mwedzi mishoma yekutanga yehupenyu hwemwana, kazhinji kusvika pamwedzi mitanhatu, inokura sevamwe vana. Vanoita zvinhu zvinoenderana nezera ravo, zvakaita sekukambaira, kunyemwerera, uye kufambisa makumbo avo. Zvisinei, mushure memwedzi mitanhatu, mwana anotanga kurasikirwa nehunyanzvi nehunyanzvi hwaakadzidza kare. Semuenzaniso, kugona kubata chitoyi nemaoko ese, kukwazisa amai vake, uye kutaura mashoko kunoderera. Zviratidzo izvi zvinoonekwa pamatanho akasiyana mwana paanokura. Zvisinei, chimwe chinhu chekurangarira ndechekuti kunyangwe zviratidzo izvi zvichirega kuramba zvichienderera mberi nekufamba kwenguva, hazviperi zvachose. Nokudaro, vana ava vanoda kutarisirwa kwakakosha nerutsigiro muhupenyu hwavo hwese.

Ndezvipi zviratidzo zveRett Syndrome?

Sezvambotaurwa, mwana anogona kukura zvakanaka kusvika ava nemwedzi mitanhatu. Zviratidzo zvekutanga zveRett Syndrome kunonoka kukura . Izvi zvinoreva kuti mwana anononoka kuita zvinhu zvinoenderana nezera rake, semuenzaniso, kusakambaira kana vamwe vana vachikambaira, vachisimudza maoko avo, kana kutanga kutaura.

Mwana paanokura, zviratidzo zvekudzokera shure pakukura, apo zvadzidzwa zvinorasika zvakare, zvinoonekwa zvakajeka.

Zviratidzo zvinokanganisa tsandanyama dzemwana, mafambiro ake, uye maitiro ake:

• Matambudziko ekuenzanisa uye kubatana kwemuviri panguva yekufamba: Kuoma kwekumira nekufamba. Inogona kudonha kakawanda.
• Kuoma kutaura:Zvinova zvakaoma kutaura mazwi uye kutaura pfungwa. Vamwe vana vanogona kutorasikirwa nehunyanzvi hwekutaura zvachose.
• Kuomerwa nekumedza kana kutsenga chikafu: Izvi zvinogona kuita kuti mwana asawane chikafu chinodiwa, aderedze huremu, uye asawane chikafu chinovaka muviri .
• Kushaya simba kana kuomarara kwetsandanyama (spasticity): kutadza kudzora makumbo nemazvo.
• Kuomerwa nekuita mafambiro akajairika uchirairwa (apraxia): Semuenzaniso, kutadza kuzviita kana waudzwa kuti "uzunguze ruoko rwako," asi dzimwe nguva uchikwanisa kuzunguza ruoko rwako wakamira.
• Kufamba-famba nemaoko kakawanda: Kufamba-famba nemaoko kakawanda sekudzvanya, kudzvanya, uye kuombera maoko ndizvo zvinonyanya kuratidzwa nechirwere ichi.

Zvimwe zviratidzo:

• Matambudziko ekurara: Kusarara zvakanaka husiku, kumuka nguva nenguva.
• Matambudziko ekugaya chikafu: zvinhu zvakaita se reflux uye kuvimbiwa .
• Kuremara kwepfungwa: Kugona kudzidza kunogona kuderedzwa.
• Kugara uchinetseka uye uchigumbuka.
• Scoliosis: Musana unokombama uchienda kudivi.
• Kukura zvishoma nezvishoma: Zvinhu zvakaita sehurefu nekuwedzera huremu zvinogona kunonoka kupfuura vamwe vana.

Zviratidzo zvinogona kutyisidzira hupenyu dzimwe nguva zvinosanganisira:

• Matambudziko ekufema: Kufema zvisina kurongeka, kubata mweya, nezvimwewo.
• Kusashanda zvakanaka kwemoyo.
• Kubatwa nepfari.

Vana vane Rett Syndrome vane zviratidzo zvakasiyana zvechiso here?

Vana vane Rett Syndrome vanogona kunge vaine musoro mudiki kana tichienzanisa nemuviri wavo wese. Izvi zvinonzi microcephaly . Izvi zvinogona kukonzera kuti zvitarisiko zvechiso zvionekwe zvishoma. Zvisinei, hapana zvitarisiko zvechiso zvakasiyana nechirwere ichi, zvakaita sekuti "ndizvo zvakaita chiso."

Dzimwe nguva zviratidzo zveRett Syndrome zvinogona kufanana nezvechimwe chirwere chinonzi Angelman Syndrome . Matambudziko ese ari maviri ane zvinhu zvakafanana, zvakaita sematambudziko ekutaura nekutaurirana, kunonoka kukura, pfari, uye matambudziko ekurara. Zvisinei, Angelman Syndrome ine zvinhu zvakasiyana-siyana zvechiso, zvakaita semaziso akadzika, muromo wakafara, uye mipata mikuru pakati pemazino. Rett Syndrome haina zvinhu izvi zvechiso.

Matanho eRett Syndrome

Chirwere ichi chinopfuura nematanho akasiyana mwana paanokura. Padanho rega rega, mwana anogona kuratidza zviratidzo zvakasiyana. Zvisinei, havasi vana vese vanopfuura nematanho aya ese nenzira imwechete. Semuenzaniso, vamwe vana vane Rett Syndrome vangasazombokwanisa kufamba.

Matanho eRett Syndrome:

1. Danho I - Danho rekutanga: Izvi zvinotanga pakati pemwedzi 6 ne18 yekuberekwa. Kukura kwemwana kunononoka. Semuenzaniso, kukambaira kunononoka, uye kugona kutarisa amai zvakananga kunoderera. Tsandanyama dzemwana dzinova dzisina kusimba ( tsandanyama dzakaderera ), uye matambudziko ekudya anogona kuitika.

2. Danho rechipiri - Danho rinofambira mberi nekukurumidza: Izvi zvinowanzoitika pakati pemakore 1 ne4. Mwana anogona kurasikirwa nekugona kutaura nekushandisa maoko ake. Vanogona kupfumbata zvibhakera zvavo nguva nenguva. Vamwe vana vanogonawo kuratidza maitiro akafanana neevana vane Autism Spectrum Disorder, akadai sekurasikirwa nehanya nekudyidzana nevamwe.

3. Danho rechitatu - Danho repakati penzvimbo kana kuti danho renguva pfupi rakagadzikana: Izvi zvinowanzoitika pakati pemakore maviri negumi. Zvimwe zvezviratidzo zvaive zvakanyanya mudanho rechipiri, semuenzaniso, hunyanzvi hwekutaurirana uye hunyanzvi hwekufamba netsoka, zvinogona kuvandudzika zvishoma. Vanogona kuratidza kufarira kushamwaridzana zvakare. Kubatwa nepfari kunowanzoitika munguva iyi.

4. Danho rechina - Kudzikira kwesimba remuviri mushure meDanho rechina: Izvi zvinogona kuitika chero nguva mushure meDanho rechina. Mwana anogona kurasikirwa nekugona kufamba uye simba retsandanyama. Zvisinei, hunyanzvi hwemwana hwekutaurirana nekufunga hunofanira kuramba huripo panguva iyi.

Ndezvipi zvinokonzera Rett Syndrome?

Rett Syndrome inowanzo kukonzerwa nekuchinja kwemajini mujini rinonzi `MECP2`. Sezvandambotaura, jini iri rinorayira kugadzirwa kwepuroteni inonzi `MECP2`. Puroteni iyi inobatsira kuchengetedza hukama (synapses) pakati pemasero etsinga uye inobatsira uropi hwemwana kushanda zvakanaka.

Zvisinei, havasi vese vane Rett Syndrome vane chekuita neMECP2 gene. Mamwe marudzi emajini (semuenzaniso, kubviswa) kana mamwe majini, akadai seCDJK5 neFOXG1, anogonawo kukonzera mamwe majini asina kujairika eRett Syndrome. Dzimwe nguva, zviratidzo izvi zvinogona kukonzerwa nemajini asati aonekwa.

Chinhu chakakosha ndechekuti shanduko iyi yemajini inowanzoitika yega/nekusarongeka . Kureva kuti, kazhinji haigamuchirwi kubva kuvabereki kuenda kuvana. Saka haufanirwe kunzwa uine mhosva zvakanyanya nezvazvo.

Vakomana vanobatwa neRett Syndrome here?

Rett Syndrome inowanzobata vasikana chete. Izvi zvinokonzerwa nekuti shanduko yemajini inokonzera iyi inoitika paX chromosome. Sezvamunoziva, mukadzi ane maX chromosome maviri (XX).

Nekuti vakomana vane chromosome imwe chete yeX uye imwe yeY (XY), chirwere ichi hachiwanzoitiki. Kana mukomana aine iyi mhando pane X chromosome yake yega, zviratidzo zvinogona kunge zvakanyanya. Izvi zvinogona kukonzera kupererwa kwepamuviri kana kutofa panguva yekuzvarwa.

Vanachiremba vanodana chirwere ichi kuvakomana kuti ``MECP2-related severe neonatal encephalopathy.'' Chirwere ichi chinogonawo kuratidza zviratidzo zvakafanana neRett syndrome, zvakaita sekuremara kwepfungwa, pfari, uye matambudziko ekufamba.

Matambudziko eRett Syndrome

Mwana ane chirwere ichi ari panjodzi yekusangana nematambudziko anotevera, mamwe acho anogona kuisa hupenyu hwake panjodzi:

• Chibayo chekufema: Chirwere chepneumonia chinokonzerwa nechikafu kana chinwiwa chinopinda mumapapu.
• Pfari: Kugara uchibatwa nepfari.
• Kusashanda zvakanaka kwemoyo: Semuenzaniso, zvirwere zvakaita seLong QT syndrome .
• Matambudziko emapapu kana kufema.

Vanachiremba vanoongorora sei Rett Syndrome?

Chiremba anoongorora Rett Syndrome nekuongorora mwana uye kuita bvunzo dzinodiwa. Saamai, unogona kufungidzira kuti pane chisina kumira zvakanaka kana mwana wako asiri kuzadzisa matanho ekukura kwake, kunyanya mugore rake rekutanga. Ndipo paunofanira kuendesa mwana wako kuna chiremba wevana kana kuna chiremba wemhuri yako.

Chiremba wako achaongorora mwana wako uye otsvaga zviratidzo. Zvadaro, achaita bvunzo kuti aone kana paine zvimwe zvirwere zvingave nezviratidzo zvakafanana. Kazhinji, chirwere ichi chinogona kusimbiswa nekuongororwa ropa nemajini kunotsvaga shanduko mujini reMECP2. Kuongororwa kwemajini uku hakudi kugadzirira kwakakosha kana kugara muchipatara.

Kuongororwa kwechirwere kunowanzoitwa pakati pemakore matanhatu negumi nemasere, sezvo ndipo panotanga zviratidzo.

Nekuti Rett Syndrome chirwere chisingawanzoitiki, dzimwe nguva zvinogona kuoma kuwana chirwere nekukasika. Zvinogona kutora nguva kuti chikwata chezvekurapa chibvise zvimwe zvirwere zvese uye chisimbise kuti ndizvo zvazviri. Zvinogona kunetsa kumirira mhinduro, asi kuongororwa kwakajeka kunogona kubatsira chikwata chezvekurapa kurapa zviratidzo zvemwana wako.

Rett Syndrome inorapwa sei?

Nzira dzekurapa dzinoenderana nezviratidzo zvemwana. Semuenzaniso, mishonga inogona kupihwa yepfari uye matambudziko ekufamba-famba. Kana mwana aine matambudziko ekufamba netsoka uye kugona kutaura, chiremba anogona kukurudzira kurapwa kwakadai se:

• Kurapa kwemabasa: Kunobatsira mabasa ezuva nezuva uye kunovandudza mashandiro emaoko.
• Kurapa muviri: Kunobatsira nezvinhu zvakaita sekufamba, kuenzana, uye kusimbisa tsandanyama.
• Kurapa nekutaura: Kunobatsira kuvandudza kutaura nekutaurirana.

Kune vana vane makore maviri zvichikwira, mushonga unonzi Trofinetide waratidza mhedzisiro yakanaka mukuyedzwa kwekiriniki . Ndiwo mushonga wekutanga wakatenderwa neU.S. Food and Drug Administration (FDA) zvakanangana neRett Syndrome . Hausi mushonga, asi unoonekwa semushonga unochinja chirwere. Munofanira kukurukura sarudzo iyi nechikwata chenyu chekurapa moita sarudzo pamwe chete.

Uye zvakare, mwana wako anogona kubatsirwa ne:

• Kupfeka braces kana kuvhiyiwa kwe scoliosis .
• Kuongororwa nguva nenguva kwezvirwere zvemwoyo.
• Rutsigiro rwezvekudya.
• Zvirongwa zvedzidzo yakakosha kuchikoro.

Parizvino hapana mushonga weRett Syndrome . Zvisinei, vanachiremba vemwana wako vanogona kubatsira kudzora zviratidzo muhupenyu hwake hwese.

Ndinofanira kuenda nemwana wangu kuna chiremba riini?

Kana ukaona kuti mwana wako haasi kuzadzisa matanho ekukura anoenderana nezera rake, kunyanya mushure memwedzi mitanhatu, enda kuna chiremba nekukasika.

Kana mwana wako akaonekwa kuti ane Rett Syndrome , kana aine mimwe migumisiro yekurapwa, kana kuti akaonekwa nezviratidzo zvitsva kana kuti zviratidzo zviripo zvikawedzera kuipa, zivisa chiremba wako.

Mwana ane Rett Syndrome anotarisirwa kurarama kwenguva yakareba sei?

Vanhu vazhinji vane Rett Syndrome vanorarama hupenyu hwakanaka kusvika vava nemakore ekuma40 zvichikwira. Kana zviratidzo zvacho zvisina kuoma, mwana wako anogona kurarama hupenyu hwakajairika. Zvisinei, kana matambudziko ehutano akaitika, makore ekurarama anogona kupfupikiswa.

Munhu akakodzera kubvunza nezvemakore ekurarama kwemwana wako ndichiremba wake. Iye anogona kunzwisisa mamiriro ezvinhu chaiwo emwana wako uye kukutsanangurira.

Kufungidzira Rett Syndrome

Rett Syndrome chirwere chinogara kwenguva refu. Zviratidzo zvinobata munhu mumwe nemumwe zvakasiyana. Mwana wako anogona kukwanisa kudzora mafambiro ake, kufamba, uye kutaurirana ari ega. Zvisinei, achada kutarisirwa nguva dzese kweupenyu hwake hwese.

Uyewo, mwana wako achafanirwa kugara achisangana nechikwata chake chekurapa kuti agadzirise zviratidzo zvakanaka uye adzivise matambudziko. Mune zvimwe zviitiko zveRett Syndrome, matambudziko anogona kukonzera kufa nekukurumidza.

Kuziva kuti mwana wako ane chirwere chetsinga chisingawanzoitiki kunogona kukuomera. Unganzwa kunetseka uye kusuruvara kuti mwana wako haasi kukura sevamwe vana. Kunyange zvazvo muviri wemwana wako uchada nguva yakawanda uye kutarisirwa sezvaanokura, usarasa tariro. Vanachiremba vachave newe nhanho imwe neimwe yenzira kuti vape mwana wako rubatsiro rwaanoda.

Vatsvagurudzi vari kuwana mishonga mitsva inogona kubatsira vana vane Rett Syndrome kuburikidza nemiedzo yekiriniki . Kana muine mibvunzo nezvemaonero kana kurapwa kwemwana wenyu, bvunzai chiremba wenyu.

Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakajairika kuti unzwe wakaremerwa kana ukaona kuti mwana wako ane Rett Syndrome . Asi yeuka zvinhu izvi:

• Hausi wega: Kune vamwe vabereki vari kutarisana nemamiriro ezvinhu akafanana. Vanachiremba, varapi, uye mapoka ekutsigirana vakagadzirira kukubatsira.
• Kuonekwa kwemwana wako nekukurumidza kwakakosha: Kana ukaona mwana wako achinonoka kukura, tsvaga rubatsiro rwechiremba nekukasika.
• Kurapwa kunogona kudzora zviratidzo: Kunyange hazvo pasina mushonga wakakwana, kurapwa nekurapwa kunogona kuvandudza hupenyu hwemwana.
• Mwana wese akasiyana: Zviratidzo uye kukanganiswa kwechirwere zvinosiyana kubva pamunhu kuenda kumunhu. Vanachiremba vachakubatsira kugadzira hurongwa hwekuchengeta mwana wako hwakakodzera.
• Ramba uine tariro: Sainzi yezvekurapa iri kufambira mberi uye tsvakurudzo itsva dziri kuitwa, saka zvakakosha kuti ugare uine tariro.

Chinhu chinonyanya kukosha ndechekupa mwana wako rudo, kutarisirwa, uye kurapwa kwakakodzera.

Rett Syndrome, zvirwere zvemajini, zvirwere zvetsinga, kukura kwemwana, jini reMECP2, kunonoka kukura