Momwe Mungadziwire Rett Syndrome

Zamkati

• Makhalidwe a Rett Syndrome
• Momwe matendawa amapangidwira
• Kutalika kwa moyo
• Zomwe zimayambitsa Rett Syndrome
• Chithandizo cha Rett Syndrome

Matenda a Rett, otchedwanso cerebro-atrophic hyperammonemia, ndi matenda osowa amtundu omwe amakhudza dongosolo lamanjenje ndipo amakhudza atsikana okha.

Ana omwe ali ndi matenda a Rett amasiya kusewera, amadzipatula ndipo amataya luso lawo lophunzira, monga kuyenda, kulankhula kapena kusuntha manja awo, ndikupangitsa kuti manja azigwira okha omwe ali ndi matendawa.

Matenda a Rett alibe mankhwala koma amatha kuwongolera kugwiritsa ntchito mankhwala omwe amachepetsa khunyu, kupumira komanso kupuma, mwachitsanzo. Koma kulimbitsa thupi ndikulimbikitsa kwa psychomotor ndizothandiza kwambiri, ndipo ziyenera kuchitidwa, makamaka, tsiku ndi tsiku.

Makhalidwe a Rett Syndrome

Ngakhale zizindikiro zomwe makolo amati chidwi cha makolo zimangowonekera pakatha miyezi isanu ndi umodzi ya moyo, mwana yemwe ali ndi matenda a Rett ali ndi hypotonia, ndipo amatha kuwonedwa ndi makolo ndi banja, ngati mwana 'wabwino' kwambiri komanso wosavuta kusamalira ya.

Matendawa amapezeka m'magawo 4 ndipo nthawi zina matendawa amangofika pafupifupi chaka chimodzi, kapena kupitilira apo, kutengera zizindikilo zomwe mwana aliyense amapereka.

Gawo loyamba, imachitika pakati pa miyezi 6 ndi 18 ya moyo, ndipo pali:

• Kuletsa kukula kwa mwana;
• Kuzungulira kwa mutu sikutsatira kukhazikika kwakukula;
• Kuchepetsa chidwi mwa anthu ena kapena ana, ndimakonda kudzipatula.

Gawo lachiwiri, imachitika kuyambira zaka 3 ndipo imatha milungu ingapo kapena miyezi:

• Mwana amalira kwambiri, ngakhale popanda chifukwa chomveka;
• The mwana nthawi zonse amakhala amakwiya;
• Kubwereza manja kumawonekera;
• Kusintha kwa kupuma kumawonekera, ndikupuma kudasiya masana, mphindi yakuchulukirachulukira;
• Khunyu ndi matenda a khunyu tsiku lonse;
• Matenda atulo amatha kukhala wamba;
• Mwana yemwe wayankhula kale, amatha kusiya kuyankhula kwathunthu.

Gawo lachitatu, zomwe zimachitika mozungulira zaka 2 ndi 10 zapitazo:

• Pakhoza kukhala kusintha pazizindikiro zomwe zaperekedwa pano ndipo mwanayo atha kubwerera kukachita chidwi ndi ena;
• Zovuta zosunthira thunthu zimawonekera, pali zovuta kuyimirira;
• Amatha kuchepa;
• Scoliosis imayamba yomwe imalepheretsa mapapu kugwira ntchito;
• Si zachilendo kukukuta mano ugona;
• Kudyetsa kumatha kukhala kwachilendo ndipo kulemera kwa mwana kumakhalanso kwachilendo, ndikuwonjezereka pang'ono;
• Mwanayo amatha kutulutsa mpweya, kumeza mpweya ndikukhala ndi malovu ambiri.

Gawo lachinayi, zomwe zimachitika pafupifupi zaka 10 zapitazo:

• Kutayika kwa kuyenda pang'ono ndi pang'ono ndikuipiraipira kwa scoliosis;
• Kuperewera kwamaganizidwe kumakhala kovuta;
• Ana omwe amatha kuyenda amataya luso limeneli ndipo amafunikira njinga ya olumala.

Ana omwe amatha kuphunzira kuyenda amakhalabe ndi vuto losunthika ndipo nthawi zambiri amapindika kapena kutenga masitepe oyamba kubwerera kumbuyo. Kuphatikiza apo, sangathe kupita kulikonse ndipo kuyenda kwawo kumawoneka ngati kopanda tanthauzo chifukwa samayenda kukakumana ndi munthu wina, kapena kunyamula zidole zilizonse, mwachitsanzo.

Momwe matendawa amapangidwira

?????? Matendawa amapangidwa ndi a neuropediatrician omwe amafufuza mwana aliyense mwatsatanetsatane, malingana ndi zomwe zawonetsedwa. Kuti mupeze matenda, muyenera kutsatira izi:

• Zikuwoneka kuti kukula bwino mpaka miyezi isanu ya moyo;
• Kukula kwamutu pamutu pobadwa, koma sikutsata muyeso woyenera pambuyo pa miyezi 5 ya moyo;
• Kutaya kusuntha kwa manja mozungulira zaka za 24 ndi 30, kumayambitsa mayendedwe osalamulirika monga kupotoza kapena kubweretsa manja anu pakamwa;
• Mwana amasiya kucheza ndi anthu ena kumayambiriro kwa izi;
• Kusagwirizana kwa mayendedwe a thunthu ndi kuyenda kosagwirizana;
• Mwanayo salankhula, sangathe kufotokoza zomwe akufuna pamene akufuna china chake ndipo samamvetsetsa tikamalankhula naye;
• Kuchedwa kwakukula kwakukula, kukhala, kukwawa, kuyankhula ndikuyenda mochedwa kuposa momwe amayembekezera.

Njira ina yodalirika yodziwira ngati matendawa ndi kuyesa ma genetic chifukwa pafupifupi 80% ya ana omwe ali ndi Rett syndrome amasintha mumtundu wa MECP2. Kuyeza uku sikungachitike ndi SUS, koma sikungakanidwe ndi mapulani azachipatala, ndipo ngati izi zichitika, muyenera kulembetsa milandu.

Kutalika kwa moyo

Ana omwe amapezeka ndi Rett Syndrome amatha kukhala ndi moyo nthawi yayitali, kupitirira zaka 35, koma amatha kufa modzidzimutsa akugona, akadali ana. Zina zomwe zimakonda zovuta zazikulu zomwe zitha kupha ndi monga kupezeka kwa matenda, matenda opumira omwe amabwera chifukwa cha scoliosis komanso kufalikira kwamapapo.

Mwanayo amatha kupita kusukulu ndipo amatha kuphunzira zinthu zina, koma moyenera, ziyenera kuphatikizidwa mu maphunziro apadera, pomwe kupezeka kwake sikungakope chidwi, chomwe chingasokoneze kuyanjana kwake ndi ena.

Zomwe zimayambitsa Rett Syndrome

Rett Syndrome ndi matenda obadwa nawo ndipo nthawi zambiri ana okhudzidwawo ndi okhawo m'banja, pokhapokha atakhala ndi mapasa, omwe atha kukhala ndi matenda omwewo. Matendawa sagwirizana ndi zomwe makolo achitapo, chifukwa chake, safunika kudzimva olakwa.

Chithandizo cha Rett Syndrome

Chithandizo chiyenera kuchitidwa ndi dokotala wa ana mpaka mwana atakwanitsa zaka 18, ndipo ayenera kutsatiridwa ndi dokotala kapena neurologist pambuyo pake.

Kufunsira kuyenera kuchitika miyezi isanu ndi umodzi iliyonse ndipo zizindikilo zofunika, kutalika, kulemera, kulondola kwa mankhwala, kuwunika kwa kukula kwa mwana, kusintha pakhungu monga kupezeka kwa mabala a decubitus, omwe ndi ziphuphu zomwe zimatha kutenga kachilomboka, zimawonedwa mwa iwo. chiopsezo cha imfa. Zina zomwe zingakhale zofunikira ndikuwunika kwa chitukuko ndi dongosolo la kupuma komanso kuzungulira kwa magazi.

Physiotherapy iyenera kuchitidwa m'moyo wonse wa munthu yemwe ali ndi Rett Syndrome ndipo ndi othandiza pakukweza kamvekedwe, kaimidwe, kupuma ndi maluso monga Bobath atha kugwiritsidwa ntchito kuthandiza kukula kwa mwana.

Magawo olimbikitsira ma psychomotor amatha kuchitika pafupifupi 3 pa sabata ndipo amatha kuthandizira kukulitsa magalimoto, kuchepetsa kuopsa kwa scoliosis, kuwongolera kwa drool komanso kucheza ndi anthu, mwachitsanzo. Wothandizirayo athe kuwonetsa zina zomwe zitha kuchitidwa kunyumba ndi makolo kuti chidwi champhamvu zamagalimoto ndi zoyendetsa zimachitika tsiku ndi tsiku.

Kukhala ndi munthu yemwe ali ndi matenda a Rett kunyumba ndi ntchito yotopetsa komanso yovuta. Makolo amatha kutopa kwambiri ndipo pachifukwa ichi atha kulangizidwa kuti atsatidwe ndi akatswiri amisala omwe angathandize kuthana ndi kukhudzidwa kwawo.