Kodi mwana wanu wamkazi ali ndi vuto la kukula? Kodi tikambirane za Rett Syndrome?

Mwana wanu wamng'ono, makamaka mtsikana, mwina waona kuchedwa kwa chitukuko kapena kuvutika kuchita zinthu zomwe kale ankachita. Tangoganizirani, mwana amene anali kuchita bwino kwa miyezi isanu ndi umodzi mwadzidzidzi amasiya kuphunzira zinthu zatsopano ndipo amatha kuiwalanso zinthu zomwe anaphunzira kale. Ndizachilendo kuti mayi kapena bambo aziopa kwambiri komanso azida nkhawa akaona chinthu chonga ichi. Lero tikambirana za vuto losowa kwambiri, koma lofunika kudziwa, lomwe limakhudza kwambiri atsikana. Ichi ndi chomwe timachitcha Rett Syndrome .

Kodi Rett Syndrome ndi chiyani? Mwachidule...

Mwachidule, Rett Syndrome ndi matenda osowa kwambiri a majini ndi mitsempha . Amakhudza makamaka atsikana. Amayambitsidwa ndi kusintha kwa majini m'thupi lathu, makamaka jini yotchedwa `MECP2`. Jini iyi ya `MECP2` imagwira ntchito yofunika kwambiri pakukula kwa ubongo wathu komanso kusinthana kwa chidziwitso pakati pa maselo a mitsempha, kutanthauza kulumikizana pakati pa maselo a mitsempha (synapse) . Chifukwa chake, pakachitika kusintha kwa jini iyi, kumakhudza kukula kwa ubongo wa mwana.

Mu mkhalidwe umenewu, miyezi ingapo yoyambirira ya moyo wa mwana, nthawi zambiri mpaka miyezi 6, imakula ngati ana ena. Amachita zinthu zoyenera msinkhu wawo, monga kukwawa, kumwetulira, ndi kusuntha miyendo yawo. Komabe, patatha miyezi 6, mwanayo amayamba kutaya luso ndi luso lomwe adaphunzira kale. Mwachitsanzo, luso logwira chidole ndi manja onse awiri, kugwedeza dzanja kwa amayi ake, ndi kunena mawu limachepa. Zizindikirozi zimawonekera pazigawo zosiyanasiyana pamene mwanayo akukula. Komabe, chinthu chimodzi choyenera kukumbukira ndichakuti ngakhale zizindikirozi zimasiya kuipiraipira (kupita patsogolo) pakapita nthawi, sizimatha kwathunthu. Chifukwa chake, ana awa amafunikira chisamaliro chapadera ndi chithandizo m'miyoyo yawo yonse.

Kodi zizindikiro za Rett Syndrome ndi ziti?

Monga tanenera kale, mwana amatha kukula bwino mpaka ali ndi miyezi 6. Zizindikiro zoyamba za Rett Syndrome ndi kuchedwa kukula . Izi zikutanthauza kuti mwanayo amachedwa kuchita zinthu zoyenera msinkhu wake, mwachitsanzo, kusakwawa pamene ana ena akukwawa, akugwedeza manja awo, kapena akuyamba kulankhula.

Pamene mwana akukula, zizindikiro za kusintha kwa kakulidwe ka zinthu, momwe zomwe waphunzira zimatayikiranso, zimaonekera bwino.

Zizindikiro zomwe zimakhudza minofu, mayendedwe, ndi khalidwe la mwana:

• Mavuto okhudzana ndi kulinganiza bwino zinthu komanso kugwirizana bwino poyenda: Kuvuta kuyima ndi kuyenda. Angagwe pafupipafupi.
• Kuvuta kulankhula:Zimakhala zovuta kunena mawu ndi kufotokoza malingaliro. Ana ena amatha kutaya luso lolankhula kwathunthu.
• Kuvuta kumeza kapena kutafuna chakudya: Izi zingapangitse mwana kusalandira zakudya zofunikira, kuchepetsa thupi, komanso kusowa zakudya m'thupi .
• Kufooka kapena kuuma kwa minofu (spasticity): kulephera kulamulira miyendo bwino.
• Kuvuta kuchita mayendedwe odziwika bwino polamulidwa (apraxia): Mwachitsanzo, kulephera kutero mukauzidwa kuti "gwedezani dzanja lanu," koma nthawi zina kukhoza kugwedeza dzanja lanu mutaima.
• Kusuntha manja mobwerezabwereza: Kusuntha manja mobwerezabwereza monga kufinya, kufinya, ndi kuwomba m'manja ndi chizindikiro cha matendawa.

Zizindikiro zina:

• Mavuto a tulo: Kusagona bwino usiku, kudzuka pafupipafupi.
• Mavuto a m'mimba: zinthu monga reflux ndi kudzimbidwa .
• Kulemala kwa nzeru: Luso lophunzira lingachepe.
• Kusakhazikika maganizo ndi kukwiya pafupipafupi.
• Scoliosis: Msana umakhota m'mbali.
• Kukula pang'onopang'ono: Zinthu monga kutalika ndi kunenepa kwambiri zingakhale zocheperapo poyerekeza ndi ana ena.

Zizindikiro zomwe nthawi zina zimakhala zoopsa kwa moyo ndi izi:

• Mavuto opuma: Kupuma mosasamala, kugwira mpweya, ndi zina zotero.
• Kusakhazikika kwa kugunda kwa mtima.
• Kugwidwa ndi khunyu.

Kodi ana omwe ali ndi Rett Syndrome ali ndi mawonekedwe apadera a nkhope?

Ana omwe ali ndi Rett Syndrome akhoza kukhala ndi mutu waung'ono poyerekeza ndi thupi lawo lonse. Izi zimatchedwa microcephaly . Izi zingayambitse kuti nkhope ziwonekere pang'ono. Komabe, palibe nkhope yeniyeni yomwe ili ndi vutoli, monga "izi ndi momwe nkhope imawonekera."

Nthawi zina zizindikiro za Rett Syndrome zimatha kufanana ndi za matenda ena otchedwa Angelman Syndrome . Matenda onsewa ali ndi zinthu zofanana, monga mavuto olankhula ndi kulankhulana, kuchedwa kukula, khunyu, ndi mavuto ogona. Komabe, Angelman Syndrome ili ndi mawonekedwe apadera a nkhope, monga maso ozama, pakamwa potakata, ndi mipata yayikulu pakati pa mano. Rett Syndrome ilibe mawonekedwe enieni a nkhope awa.

Magawo a Rett Syndrome

Matendawa amadutsa m'magawo osiyanasiyana pamene mwana akukula. Pa gawo lililonse, mwanayo angasonyeze zizindikiro zosiyana. Komabe, si ana onse omwe amadutsa m'magawo onsewa mofanana. Mwachitsanzo, ana ena omwe ali ndi Rett Syndrome sangayende.

Magawo a Rett Syndrome:

1. Gawo Loyamba - Gawo Loyamba: Izi zimayamba pakati pa miyezi 6 ndi 18. Kukula kwa mwana kumachepa. Mwachitsanzo, kukwawa kumachedwa, ndipo kuthekera koyang'ana molunjika kwa mayi kumachepa. Minofu ya mwana imakhala yochepa mphamvu ( minofu yochepa ), ndipo mavuto odyetsera angachitike.

2. Gawo Lachiwiri - Gawo Lopita Patsogolo Mwachangu: Izi nthawi zambiri zimachitika pakati pa zaka 1 ndi 4. Mwanayo angataye luso lolankhula ndi kugwiritsa ntchito manja ake. Angagwire zibakera zawo pafupipafupi. Ana ena angasonyezenso makhalidwe ofanana ndi a ana omwe ali ndi vuto la Autism Spectrum Disorder, monga kutaya chidwi ndi kucheza ndi anthu.

3. Gawo Lachitatu - Gawo lokhazikika kapena lokhazikika kwakanthawi: Izi nthawi zambiri zimachitika pakati pa zaka ziwiri ndi khumi. Zizindikiro zina zomwe zinali zazikulu mu gawo lachiwiri, mwachitsanzo, luso lolankhulana ndi luso loyendetsa thupi, zitha kusintha pang'ono. Angasonyeze chidwi chofuna kukhalanso ndi anthu ena. Kugwidwa ndi khunyu kumachitika kawirikawiri panthawiyi.

4. Gawo Lachinayi - Kuchepa kwa kayendedwe ka thupi pambuyo pake: Izi zitha kuchitika nthawi iliyonse pambuyo pa Gawo Lachitatu. Mwana akhoza kutaya mphamvu yoyenda komanso mphamvu ya minofu. Komabe, luso la mwana lolankhulana ndi kuganiza liyenera kupitiliza kukhalapo panthawiyi.

Kodi ndi zinthu ziti zomwe zimayambitsa matenda a Rett Syndrome?

Matenda a Rett nthawi zambiri amayamba chifukwa cha kusintha kwa majini mu jini yotchedwa `MECP2`. Monga ndanenera kale, jini iyi imaphunzitsa kupanga puloteni yotchedwa `MECP2`. Puloteni iyi imathandiza kusunga kulumikizana (synapses) pakati pa maselo amitsempha ndipo imathandiza ubongo wa mwana kugwira ntchito bwino.

Komabe, si milandu yonse ya Rett Syndrome yomwe imalumikizidwa ndi jini ya MECP2. Mitundu ina ya majini (monga kuchotsedwa) kapena mitundu ina ya majini, monga CDJK5 ndi FOXG1, ingayambitsenso milandu ya Rett Syndrome yosazolowereka. Nthawi zina, zizindikirozi zimatha kuyambitsidwa ndi majini omwe sanadziwikebe.

Chofunika kwambiri ndichakuti kusintha kwa majini kumeneku kumachitika mwangozi/mwangozi . Izi zikutanthauza kuti, nthawi zambiri sikutengera kwa makolo kupita kwa ana. Choncho simuyenera kudzimva kuti ndinu wolakwa kwambiri.

Kodi anyamata ali ndi Rett Syndrome?

Matenda a Rett nthawi zambiri amakhudza atsikana okha. Izi zimachitika chifukwa cha kusintha kwa majini komwe kumayambitsa matendawa kumachitika pa chromosome ya X. Monga mukudziwa, mkazi amakhala ndi ma chromosome awiri a X (XX).

Popeza anyamata ali ndi chromosome imodzi ya X ndi chromosome imodzi ya Y (XY), vutoli ndi losowa kwambiri. Ngati mnyamata ali ndi mtundu uwu pa chromosome yake yokha ya X, zizindikiro zake zimatha kukhala zoopsa kwambiri. Izi zingayambitse kutaya mimba kapena imfa pobadwa.

Madokotala amatcha vutoli mwa anyamata "MECP2-related severe neonatal encephalopathy." Matendawa amathanso kusonyeza zizindikiro zofanana ndi matenda a Rett, monga kulemala kwa maganizo, khunyu, ndi mavuto oyenda.

Mavuto a Rett Syndrome

Mwana amene ali ndi vutoli ali pachiwopsezo chotenga mavuto awa, ena mwa iwo akhoza kukhala pachiwopsezo chachikulu:

• Chibayo cha mpweya: Matenda a chibayo omwe amayamba chifukwa cha chakudya kapena chakumwa cholowa m'mapapo.
• Khunyu: Kugwidwa ndi khunyu pafupipafupi.
• Kulephera kugwira ntchito kwa mtima: Mwachitsanzo, matenda monga matenda a Long QT .
• Mavuto a m'mapapo kapena kupuma.

Kodi madokotala amazindikira bwanji matenda a Rett Syndrome?

Dokotala amazindikira matenda a Rett Syndrome mwa kumufufuza mwanayo ndikuchita mayeso ofunikira. Monga mayi, mungaganize kuti pali vuto pamene mwana wanu sakukwaniritsa zofunikira pakukula kwake, makamaka chaka choyamba. Pamenepo ndi pamene muyenera kupita ndi mwana wanu kwa dokotala wa ana kapena kwa dokotala wa banja lanu.

Dokotala wanu adzamuyesa mwana wanu ndikuyang'ana zizindikiro. Kenako, adzayesa kuti apeze matenda ena omwe angakhale ndi zizindikiro zofanana. Nthawi zambiri, vutoli likhoza kutsimikiziridwa ndi mayeso a magazi a majini omwe amafufuza kusintha kwa majini a MECP2. Kuyesa kwa majini kumeneku sikufuna kukonzekera kwapadera kapena kukhala kuchipatala.

Kuzindikira matendawa nthawi zambiri kumachitika pakati pa miyezi 6 ndi 18, chifukwa apa ndi pomwe zizindikiro zimayamba.

Popeza matenda a Rett Syndrome ndi osowa kwambiri, nthawi zina zimakhala zovuta kupeza matenda nthawi yomweyo. Zingatenge nthawi kuti gulu lachipatala lichotse matenda ena onse ndikutsimikizira kuti ndi choncho. Zingakhale zokhumudwitsa kudikira mayankho, koma kupeza matenda omveka bwino kungathandize gulu lachipatala kuchiza zizindikiro za mwana wanu.

Kodi matenda a Rett amachiritsidwa bwanji?

Njira zochiritsira zimadalira zizindikiro za mwanayo. Mwachitsanzo, mankhwala angaperekedwe kwa khunyu ndi matenda oyendayenda. Ngati mwanayo ali ndi vuto la luso loyendetsa thupi komanso luso lolankhula, dokotala angakulangizeni mankhwala monga:

• Chithandizo cha ntchito: Chimathandiza pa ntchito za tsiku ndi tsiku komanso chimathandiza kuti manja azigwira bwino ntchito.
• Kuchiza thupi: Kumathandiza pa zinthu monga kuyenda, kulimbitsa thupi, komanso kulimbitsa minofu.
• Chithandizo cha kulankhula: Chimathandiza kukonza kulankhula ndi kulankhulana.

Kwa ana azaka ziwiri kapena kuposerapo, mankhwala otchedwa Trofinetide awonetsa zotsatira zabwino m'mayesero azachipatala . Ndi mankhwala oyamba ovomerezeka ndi U.S. Food and Drug Administration (FDA) makamaka a Rett Syndrome . Si mankhwala, koma amaonedwa ngati mankhwala osinthira matenda. Muyenera kukambirana njira iyi ndi gulu lanu lachipatala ndikupanga chisankho pamodzi.

Kuphatikiza apo, mwana wanu angapindule ndi:

• Kuvala chigoba chothandizira kapena kuchitidwa opaleshoni ya scoliosis .
• Kupimidwa pafupipafupi kuti mudziwe ngati pali vuto la mtima.
• Thandizo la zakudya.
• Mapulogalamu apadera a maphunziro kusukulu.

Pakadali pano palibe mankhwala a Rett Syndrome . Komabe, madokotala a mwana wanu angathandize kuthana ndi zizindikiro za matendawa pa moyo wake wonse.

Kodi ndiyenera kupita ndi mwana wanga liti kwa dokotala?

Ngati muwona kuti mwana wanu sakukwaniritsa zofunikira pakukula kwake, makamaka patatha miyezi 6, pitani kwa dokotala nthawi yomweyo.

Ngati mwana wanu wapezeka ndi Rett Syndrome , ngati ali ndi zotsatirapo zilizonse chifukwa cha chithandizo, kapena ngati ayamba zizindikiro zatsopano kapena ngati zizindikiro zomwe zilipo zikuipiraipira, dziwitsani dokotala wanu.

Kodi mwana amene ali ndi matenda a Rett Syndrome amakhala ndi moyo wautali bwanji?

Anthu ambiri omwe ali ndi Rett Syndrome amakhala ndi moyo wabwino mpaka atakwanitsa zaka 40 kapena kupitirira apo. Ngati zizindikirozo sizili zazikulu, mwana wanu akhoza kukhala ndi moyo wabwinobwino. Komabe, ngati mavuto azaumoyo abuka, nthawi yoti munthu akhale ndi moyo ingachepe.

Munthu wabwino kwambiri woti mufunse za moyo wa mwana wanu ndi dokotala wake. Iyeyo amatha kumvetsetsa vuto la mwana wanu ndikukufotokozerani.

Kuneneratu za Rett Syndrome

Matenda a Rett Syndrome ndi matenda omwe munthu amakhala nawo kwa moyo wake wonse. Zizindikiro zake zimakhudza munthu aliyense mosiyana. Mwana wanu akhoza kulamulira mayendedwe ake, kuyenda, komanso kulankhulana payekha. Komabe, adzafunika chisamaliro cha usana ndi usiku kwa moyo wake wonse.

Komanso, mwana wanu ayenera kukaonana ndi dokotala nthawi zonse kuti athetse zizindikiro zake bwino komanso kupewa mavuto. Nthawi zina matenda a Rett Syndrome amatha kubweretsa imfa msanga.

Kupeza kuti mwana wanu ali ndi matenda amitsempha osowa kungakhale kovuta kwambiri. Mungamve nkhawa komanso chisoni kuti mwana wanu sakukula ngati ana ena. Ngakhale kuti thupi la mwana wanu lidzafunika nthawi yochulukirapo komanso chisamaliro pamene akukula, musataye mtima. Madokotala adzakhala nanu panjira iliyonse kuti apatse mwana wanu chisamaliro chomwe akufunikira.

Ofufuza akupeza njira zatsopano zothandizira ana omwe ali ndi Rett Syndrome kudzera mu mayeso azachipatala . Ngati muli ndi mafunso okhudza momwe mwana wanu akuonera kapena kulandira chithandizo, funsani dokotala wanu.

Zinthu zofunika kwambiri kukumbukira (Uthenga Wopita Nawo Kunyumba)

Ndi zachilendo kumva chisoni kwambiri mukazindikira kuti mwana wanu ali ndi Rett Syndrome . Koma kumbukirani zinthu izi:

• Simuli nokha: Pali makolo ena omwe akukumana ndi mavuto ofanana. Madokotala, akatswiri azaumoyo, ndi magulu othandizira ali okonzeka kukuthandizani.
• Kuzindikira msanga n'kofunika: Ngati mukuona kuti mwana wanu akuchedwa kukula, funsani thandizo la dokotala nthawi yomweyo.
• Chithandizo chingathandize kuchepetsa zizindikiro: Ngakhale kuti palibe mankhwala okwanira, chithandizo ndi njira zochiritsira zingathandize kuti moyo wa mwana ukhale wabwino.
• Mwana aliyense ndi wosiyana: Zizindikiro ndi momwe matendawa amakhudzira zimasiyana malinga ndi munthu. Madokotala adzakuthandizani kupanga dongosolo losamalira mwana wanu lomwe likugwirizana bwino ndi thanzi lake.
• Khalani ndi chiyembekezo: Sayansi ya zamankhwala ikupita patsogolo ndipo kafukufuku watsopano akuchitika, choncho ndikofunikira kukhalabe ndi chiyembekezo.

Chofunika kwambiri ndi kupatsa mwana wanu chikondi, chisamaliro, ndi chisamaliro choyenera chamankhwala.

Matenda a Rett, matenda a majini, matenda a mitsempha, kukula kwa mwana, jini la MECP2, kuchedwa kwa chitukuko