Rett syndrome ana: zimayambitsa, zizindikiro, zizindikiro, chithandizo. khalidwe la matenda Rett ndi chiyani?

Rett Syndrome - ndi mtundu wa kupata osachiritsika matenda yodziwika ndi CNS. Izi ndi osowa chibadwa anatsimikiza kudwala amene akufotokozera makamaka atsikana aang'ono. Iwo akhoza zimachitika gulu la maganizo ndi mavuto a m'maganizo, chifukwa matendawa amakhudza mbali yofunika ya thupi: uziyenda ubongo, yachibadwa chitukuko cha dongosolo minofu ndi mafupa, chapakati mantha dongosolo. Panopa, madokotala sangathe kupereka chithandizo chokwanira cha matenda, monga chikhalidwe cha chiyambi chake chagona pa mlingo maselo ndi ma.

Kumasiyanitsa kudwala izi kuchokera satha kulankhula bwinobwino odziwika bwino? ndi zizindikiro lililonse chiyani? Kodi n'zotheka kuchiza matenda ndi thandizo la mankhwala? Mayankho a mafunso amenewa ndi ena ambiri angapezeke ndi nkhaniyi.

ena ziwerengero

Rett Syndrome - ndi chosayenerera majini a chilengedwe, chimene amakhulupirira kuti khalidwe cholowa. Pofuna molondola kwambiri kufufuza zimayambitsa matenda, asayansi kwa zaka zingapo anachita kusanthula m'zigawozo kufala kwa matenda, amene anakhala tingadziwire zochitika linalake syndrome ana ku dera kumene kulibe nüfuslu. "Matumba" Amenewa taonera Norway, Hungary ndi Italy.

Matendawa adayamba mwakhama kufufuza okha pa zaka 15 zapitazo. Pakali pano, chikhalidwe choona cha matenda adakali undiagnosed mpaka kumapeto. Asayansi padziko lonse akupitirizabe kuphunzira nkhaniyi, cholinga chachikulu cha zimene ankaona pentopeni zamoyo kufufuza chilengedwe. Mu lingaliro lawo, iye ndiye kenako adzalenga ndi njira yatsopano ndi ogwira mankhwala osati za matenda izi, koma matenda ena ambiri ofanana chikhalidwe chibadwa.

Malinga ndi kafukufuku, 10-15 zikwi ana pali wina wamkazi yekha mwana ndi matenda amenewa. Rett syndrome anyamata ali osowa kwambiri ndipo ndi yosemphana ndi moyo.

Mbiri ya matenda

Mu 1954, wotchuka Austria dokotala Andreas Rett woyamba anatulukira ichi zizindikiro matenda. Pa kuona atsikana awiri ndi zoonekeratu mavuto a m'maganizo sipekitiramu dokotala anaona zizindikiro uncharacteristic wa maganizo: dzanja kuwapindapinda, psinjika ndi wokhalitsa zala nsinga, akusisita manja ake ngati mwana asambe m'madzi. magulu amenewa abwerezedwa ndi periodicity ena ndipo motero wosakhazikika limodzi ndi boma maganizo, kuyambira ndi kumiza kutsiriza ndi isanayambike mwadzidzidzi kukuwa. Kenako, dokotala ananyamula kuphunzira milandu awiri, ndipo anapeza ofanana chithunzi matenda mu mbiri ena, ndipo zimenezi zinamuthandiza kudziwa kudwala mu gulu osiyana.

Pofika 1966, katswiri matenda syndrome akadali nawo atsikana 31, ndipo kenako linatulutsa zotsatira za zaka za kufufuza m'mabuku angapo German-chinenero. Komabe, nthawi kuti kudwala latsopano sanalandire olengeza lonse, koma patatha zaka 20 wakhala anazindikira pa mlingo lonse ndipo ankatchedwa "Rett syndrome" polemekeza anatulukira lapansi.

Kuyambira pamenepo, asayansi padziko lonse anayamba kuphunzira kwa matenda udakali etiology ake.

The zifukwa

Pamene kudwala nazo matenda osiyana, akatswiri ayamba kuika patsogolo mfundo zosiyanasiyana za zimayambitsa chitukuko. Poyamba ankaganiza kuti matenda ndi osiyana majini chikhalidwe, kuti ndi amene amachititsa jini kusintha. Zolakwika za chikhalidwe ichi chifukwa kukhalapo kwa ambiri ankagwirizana magazi mu m'badwo anthu.

Komano, ena amanena anomalies chromosomal chimayambitsa zikuluzikulu za matenda. Tikuyankhula zokhudza kukhala gawo frangible wa lalifupi mkono wa X khromozomu. Asayansi amati uku kuli malo udindo mapangidwe kudwala.

kafukufuku wotsatira pa phunziro asonyeza kuti odwala matenda otere kwenikweni pali ena kuyan'anila mu DNA lapansi. Ndi chinthu ichi ndi chifukwa chachikulu matenda a m'maganizo, akadali osadziwika.

Chinthu chokha chimene anatha kukhazikitsa ndendende m'badwo uno wa anthu odwala. Malingana ndi madokotala, ndi chisokonezo chachikulu mu ubongo uka kwa kubadwa kwa mwana, ndi m'chaka chachinayi cha moyo wake chitukuko mabasi kwathunthu. Komanso, ana awa akhoza osati mfundo ndi weniweni.

Zizindikiro zoyambirira za matenda Rett

Mu miyezi yoyambirira ya moyo, wakhanda zikuwoneka mwangwiro wathanzi, madokotala zambiri sanadziŵe wa machimo. Mutu circumference ndi mwa magawo normative. Chinthu chokha chimene kungasonyeze matenda, izi ndi zazing'ono minofu flaccidity ndi zizindikiro za hypotension. Yotsirizira zikuphatikizapo otsika kutentha, pallor a khungu ndi kumwetsa thukuta handprints.

Pafupifupi miyezi 4-5 kukhala zizindikiro zosonyeza wa kwanthawi mu chitukuko cha luso ena galimoto (kukwawa, pakubwezeretsa kumbuyo). Kenako, ana ndi matenda Rett zimawavuta kukhala ndi kuima.

Rett Syndrome: zizindikiro

Payokha m'pofunika kuganizira zizindikiro kiyi amene anapezeka ndi matendawa. Mu yochizira matenda, pali milandu kumene matenda pachithunzichi anakweza chifukwa molakwa chizindikiro cha matenda, zomwe zimachititsa imfa mofulumira. khalidwe la matenda Rett ndi chiyani?

• Specific manja. Ana ndi matenda izi zayamba kutha luso atagwira zinthu mu manja ake. Pankhaniyi, pali mobwerezabwereza zoyenda, yodziwika ndi shuffling mosalekeza zala kapena kuomba mmanja pa mlingo pachifuwa. mwana atha kuluma dzanja lanu kapena kugunda iwo nokha mu madera osiyana a thupi.
• chitukuko Mental. Matendawa ali ndi makhalidwe retardation maganizo ndi kusowa kwa ntchito chidziwitso, amene ali lililonse kwa ana. Ena ana kuphunzira yaikulu ya kulankhula ndi maganizo a anthu ena, koma m'kupita kutaya kotheratu.
• Aakulu microcephaly. Chifukwa kuchepa kukula kwa ubongo pang'onopang'ono mutu kukula mabasi.
• Khunyu. Chizindikiro cha matenda Rett amaonedwa khunyu khunyu.
• Akutukuka kupindika msana. Kuvutika mu gawo msana kuoneka posachedwa kapena mtsogolo mwa ana onse ndi matenda izi. Chifukwa cha kupindika kumbuyo ndi dystonia.

syndrome siteji ya chitukuko

M'kati, matenda ndi magawo akuluakulu anayi, omwe ali ndi khalidwe matenda chithunzi.

• Gawo №1. The kupatuka koyamba chitukuko mwana kuti mibadwo ya miyezi inayi mpaka zaka ziwiri. Odwala ndi kukula mochedwa mutu, pali minofu kufooka, ulesi ndi kupanda chidwi mu dziko loyandikira.
• Gawo №2. Ngati mwana waphunzira kuyenda chaka kapena kutchula mawu ena, luso zonsezi zambiri kusowa chimodzi mpaka zaka ziwiri. Apa pali mpheto yeniyeni ya manja, kuvutika kupuma, chosokoneza cha kugwirizana yachibadwa. Ana ena khunyu. Symptomatic chithandizo cha matenda Rett pa siteji adakali inconclusive.
• Gawo №3. Pakati pa zaka zitatu ndi inayi ndi khola. Mbali yachitatu amakhala retardation maganizo, matenda extrapyramidal pamene m'malo kukokana "stupor" ndi dzanzi.
• Gawo №4. Pa nthawi imeneyi a nthendayo amaugwiritsa kuwonongeka chosachiritsika dongosolo autonomic ndi msana. Ndi zaka odwala khumi mwina ndichepe pafupipafupi kuukira, koma luso phompho kwathunthu kuyenda palokha. Mmenemonso ana kukhala kwa zaka zambiri. Ngakhale zolakwika kwambiri kukula, odwala ndi msinkhu wathunthu.

Onse zizindikiro pamwamba angathe kudziwa zimene siteji ndi Rett syndrome. Zizindikiro za matenda ikhoza kusintha kutengera ndi changu cha Kukula kwa matendawa ndi zina munthu wa thupi.

Kodi kuzindikira kudwala?

Matenda a matenda anatsimikiza ndi chithunzi matenda anati. Pamene kukayikitsa ana matenda zambiri anatumiza mayesero hardware. Pamafunikanso kuyezetsa boma la ubongo ndi CT muyeso wa ntchito wake bioelectric ndi akugwirira ndi ultrasound.

Matenda, makamaka magawo oyambirira a chitukuko, kawirikawiri kusokonezedwa ndi satha kulankhula bwinobwino. Komabe, pali kusiyana kuti kusiyanitsa awiriwa pathologies chosiyana.

Mu miyezi yochepa yoyambirira ya moyo, ana autistic kale pali zizindikiro khalidwe la matenda sitinganene za matenda Rett. Pamene matenda autistic, ana nthawi zambiri amachita mwai zosiyanasiyana ndi zinthu ozungulira, ndipo ndi chisomo achilendo. Rett syndrome nthawi zambiri anawona ana stiffness m'magulu wake chifukwa cha galimoto ndi matenda akulu. Komanso limodzi ndi khunyu nthawi yaitali khunyu, deceleration kukula mutu ndi movutikira. Choncho yake khalidwe masiyanidwe matenda molondola kudziwa mtundu zoyamba za matendawa, komanso mankhwala ndi kukhazikitsa miyezo yoyenera.

mankhwala

njira zamakono amachitira matenda, n'zomvetsa chisoni okha. Mbali yayikuli ya mankhwala - easing mawonetseredwe symptomatic ya matenda ndiponso kuchiritsa chikhalidwe cha odwala achichepere pogwiritsa ntchito mankhwala. Kodi mankhwala ali Kwalamulidwa kwa ana ndi matenda a "Rett syndrome"? Chithandizo zambiri limapangidwa:

1. Phwando anticonvulsants kutsekereza khunyu.
2. Ntchito "Melatonin" kwa lamulo mode zamoyo tsiku / usiku.
3. Kugwiritsa ntchito mankhwala kusintha magazi ndi kukondoweza kwa ubongo.

Ngati khunyu anawathetsa akuyambiranso ndi pafupipafupi kwambiri, anticonvulsants Mwachangu akhoza kukhala otsika. Childs, ana ndi matenda Kwalamulidwa "carbamazepine". chida ichi zimagawidwa monga anticonvulsants amphamvu.

Mu yomweyi, zambiri zotchulidwa "lamotrigine". Kumatanthauza ndi posachedwapa anaonekera mu mankhwala. Iwo kumathandiza malowedwe a monosodium mchere mu CNS. Asayansi apeza kuchuluka zili thunthu mu madzimadzi cerebrospinal odwala ndi matenda a "syndrome Rett a". Chifukwa zodabwitsazi akadali osadziwika.

mankhwala chikhalidwe

Kuwonjezera mankhwala, madokotala amalangiza kudya zakudya zapadera. Linapangidwa pa maziko aliyense payekha kunenepa. The zakudya ayenera kukhala wolemera CHIKWANGWANI, mavitamini ndi mankhwala zakudya. Izi zimafuna pafupipafupi kudya (mawola atatu). chakudya kumathandiza kuti olimba a odwala.

Mankhwalawa mulinso kutikita ndi ntchito yapadera. magawo amenewa olimbitsa thupi amathandiza kuti chitukuko cha nthambi mwana, kuonjezera kusinthasintha mbali zosiyanasiyana za thupi, komanso yotithandiza minofu kamvekedwe.

Akatswiri kuona kuti nyimbo lili ndi zotsatira opindulitsa pa ana ndi matenda. Iwo osati kakuwasangalatsa, komanso kumapangitsa chidwi zikuchitika.

Rett syndrome ana masiku ano ankachitira mu malo apadera konzanso. Zilipo pafupifupi m'mizinda yonse yaikulu. Apa, achinyamata amene akudwala atengere dziko owazungulira zimachititsa maphunziro apadera maphunziro.

Zoneneratu

Ndinapereka mankhwalawa koyenera, asayansi padziko lonse kupitiriza mwachangu kufufuza syndrome Rett. akatswiri Mapa mu funso limeneli kuti inde. Pa nthawi, osauka maselo tsinde chapadera, njira imene m'tsogolo kuthana matenda oopsa. Komanso, monga "mankhwala" kale bwinobwino anawayesa mbewa zasayansi.

M'nkhaniyi, tinauzidwa kuti ndi Rett syndrome. Photos wa ana olumala angapezeke mu mabuku apadera zachipatala pakuyenerera. Izi ndi matenda osowa kwambiri, zomwe zimagwiritsa matenda atsikana. Ngati Tikayerekeza ndi retardation maganizo, matenda izi miyezi yochepa ya moyo chosaoneka ndi zizindikiro kunja. M'miyezi isanu ndi umodzi, pali mavuto ndi chitukuko psychomotor, mwana wotaya maluso onse ndi mwamtheradi sakugonja ndi zochitika ozungulira ndi zinthu. Ndi chithunzi matenda n'lalikulu pa nthawi. Mwatsoka, matenda sangapambane definitively. mankhwala amakono amapereka zosiyanasiyana mankhwala kuchepetsa zizindikiro za matendawo. Komanso, zimakhudza opindulitsa pa thanzi mwana physiotherapy (Zochita, zofikisa), maphunziro malo apadera konzanso ndi Mudzipatala.

Tikukhulupirira kuti onse mudziwe anapereka m'nkhaniyi pa nkhaniyi inuyo kwenikweni kukhala zothandiza. Khalani wathanzi!