Rett chirwere kuvana: zvinokonzera, zviratidzo, nezviratidzo, kurapwa. Chii hunhu Rett chirwere?

Rett Syndrome - mufananidzo mberi chinopedza chirwere dzinoratidzwa CNS. Izvi haiwanzowaniki majini kutsunga zvokurwara iyo anova kunyanya vasikana vachiri zera. Zvinogona kunzi boka utano hwepfungwa uye zvinetso hwepfungwa, nokuti chirwere kunokanganisa chinokosha nhengo dzomuviri, uropi kushanda, zvakajairika kukura zvetsandanyama nemapfupa ino, musimboti tsinga. Pari, vanachiremba havagoni kupa zvakakwana pakurapa chirwere, sezvo hunhu kwayakatangira iri samolecular uye cellular chechetere.

Chii chinosiyanisa zvokurwara ichi kubva rinozivikanwa autism? Ndezvipi yokuita zviratidzo? Zvinoita kurapa chirwere tichibatsirwa kurapwa? Mhinduro dzemibvunzo iyi nemimwe mibvunzo yakawanda inogona kuwanikwa chete ino.

vamwe nhamba

Rett Syndrome - nemagene abnormality zvakasikwa, izvo vakatenda kuva nhaka hunhu. Kuti zvakarurama kuongorora zvinokonzera chirwere, masayendisiti kwemakore ichiitwa muganhu kuongorora kupararira kwechirwere chacho, izvo vakabudirira kuona rimwe kuitika pakati chirwere muvana kubva dzakati vakawanda nzvimbo. Izvi "muhomwe" kwaicherechedzwa kuNorway, Hungary uye Italy.

Chirwere vakatanga kushingaira kuongorora chete mumakore 15 apfuura. Panguva ino, chimiro chirwere ichi chechokwadi inoramba undiagnosed kusvikira pakuguma. Masayendisiti pasi pose uchidzidza nyaya ino, chinangwa chikuru iyo sechinhu zvipenyu zvechinguvana pose kutsvaka. Mukuona kwavo, ndiye akazova achasika itsva uye dzinobudirira kurapwa kwete chirwere ichi, asi zvimwe zvirwere zvakawanda zvakafanana magene hunhu.

Maererano nenhamba, 10-15 zviuru vana vanoberekwa pane mwana hadzi imwe chete chete chirwere chakadai. Rett chirwere muna vakomana zvikuru kushoma uye hakupindirani noupenyu.

Nhoroondo chirwere

Muna 1954, akakurumbira yeAustria wevana Andreas Rett kutanga vawana chirwere ichi zviratidzo. Panguva Kuongorora vasikana vaviri vane pachena chirwere chepfungwa chakarondedzera chiremba akaona uncharacteristic zviratidzo dementia: ruoko-wringing, compression uye usingaperi kubata minwe, vachidzipukuta nemaoko ake sokunge mwana ugovashambidza pasi mvura. kufamba kwakadaro inodzokororwa imwe periodicity uye nokudaro kusagadzikana achiperekedzwa kunetsa, kutanga yakazara kunyudza uye anopera pakarepo kutanga kuchema. Zvadaro, enda kunoona chiremba akatora kudzidza izvi nyaya mbiri, uye akawana chiremba mufananidzo zvakafanana dzimwe nhoroondo, izvo akamutendera kuziva zvokurwara ari oga chimwe.

Pakazosvika 1966, nyanzvi akaonekwa ari chirwere achine 31 vasikana, uye gare gare akabudisa migumisiro makore tsvakurudzo dzakawanda-mutauro wokuGermany mabhuku. Zvisinei, panguva iyoyo zvokurwara mutsva asina kugamuchira yakafara mbirikira, asi pashure pemakore 20 kwave kuchizivikanwa panguva dzakawanda pamwero uye akanzi "Rett chirwere" vachikudza akawana.

Kubvira ipapo, masayendisiti munyika yose vakatanga kudzidza nokuti rinoita chirwere chacho etiology.

The zvikonzero

Pakangotanga zvokurwara vakatakura ari oga chirwere, nyanzvi dzakatanga kuisa mberi siyana dzidziso zvezvinokonzera kwayo kukura. Pakutanga vaifungidzira kuti chirwere zvakasiyana nemagene hunhu, ndiko mhosva Gene mutation. Zvarakasiya zvakasikwa ichi nokuda pamberi vakawanda ropa ukama ari munhu mudzinza.

Ukuwo, zvave chromosomal anomalies sezvo huru zvinokonzera chirwere. Tiri kutaura pamberi frangible chikamu pfupi ruoko X chromosome. Masayendisiti zvinoratidza kuti ichi ndicho nzvimbo anokonzera paumbwe zvokurwara.

Tevera tsvakurudzo panhau vakaratidza kuti varwere vane chirwere kwakadaro chaizvoizvo pane kutyorwa ari okutodza. Hazvina chikonzero ichi ndicho chikonzero chikuru chirwere chepfungwa, achiri kuzivikanwa.

Chinhu bedzi akakwanisa kumisa chaizvoizvo zera rino varwere. Maererano vanachiremba, chikuru nenyonganiso muuropi muka kubva pakaberekwa mwana, uye Anodzivisawo pagore rechina hwake kukura zvachose. Uyezve, vana ava havagoni kuva zvizere uye munyama.

Zviratidzo Rett urwere rokutanga

Mumwedzi zvoupenyu rokutanga chairo, achangoberekwa rinotarisa gwindiri, vanachiremba kazhinji hapana fungidziro chero zvakaipa. Head sekamufarenzi zvakare mukati normative parameters. Chinhu bedzi zvingaratidza chirwere, ichi chinhu chiduku chetsandanyama flaccidity uye zviratidzo hypotension. The yokupedzisira zvinosanganisira pasi tembiricha, pallor ganda uye kunyanyisa vangadikitira handprints.

Inenge 4-5 mwedzi kuti kuonekwa zviratidzo lag kukura vamwe injini unyanzvi (kukambaira achifinyamisa pamusoro shure). Gare gare, vana vane Rett chirwere zvakaoma kugara uye kumira.

Rett Syndrome: Zviratidzo

Yoga zvakafanira kutarisa anokosha zviratidzo, izvo akaonekwa chirwere. In okurapa, pane zviitiko apo sizvo chirwere akamutswa nokuda nokusanzwisisana chiratidzo chacho, chinoguma nokukurumidza rufu. Chii hunhu Rett chirwere?

• Dzakananga fambisa maoko. In vana vane chirwere ichi zvishoma nezvishoma inonyangarika unyanzvi vakabata zvinhu mumaoko ake. Muchiitiko chino, pane yokudzokorora. inofamba, inozivikanwa nokuda chichiitwa rwokufamba-famba kwevanhu pakati minwe kana kuombera panguva muchipfuva pamwero. Mwana anogona kuruma ruoko rwako kana akurova navo pachako munyika dzakasiyana-siyana dzomuviri.
• Mental kukura. The chirwere kunoratidzwa mupfungwa retardation uye kushaya zvishande basa, izvo kwese kuti vachangoberekwa. Vamwe vana neunyanzvi chikuru dzichitaura maonero evamwe, asi pakupedzisira kurasikirwa zvachose.
• Zvakakomba microcephaly. Nokuda vasanyanye kukura kwouropi zvishoma nezvishoma vanoenda kukura rinomira.
• Pfari. The pakuva Rett chirwere vanoonekwa zvipusha pfari.
• Kukudziridza scoliosis. Abnormalities ari musana chidimbu kuonekwa tichikufunga mune vana vose kuongorora chirwere ichi. Chikonzero curvature pamusoro musana ndiyo dystonia.

chirwere pavaipfuura budiriro

Mberi, chirwere chacho muzvikamu zvina zvikuru, chimwe nechimwe chine maitiro kunotoda mufananidzo.

• Stage №1. The kwokutanga kutsauka mwana kukura vanoti pemakore mwedzi mina kusvika makore maviri. In varwere kunonoka kukura musoro, pane tsandanyama simba, lethargy uye kushayikwa kufarira dzakapoteredza nyika.
• Stage №2. Kana mwana akadzidza kufamba gore kana hachina mamwe mashoko, unyanzvi zvose izvi kazhinji vasisiri mumwe makore maviri. Panguva iyi pane dzakananga bata maoko, zvokufema, kuvhiringidza inowanzotorwa Kufambisa. Vamwe vana vane pfari. Symptomatic kurapwa kuti Rett chirwere Panguva iyi inoramba sabatsira.
• Stage №3. Between matatu mapfumbamwe nemakore zviri akatsiga. Wechitatu Danho kunoratidzwa mupfungwa retardation, extrapyramidal zvirwere kana kutsiviwa twitching "ndivete" uye chiveve.
• Step №4. Panguva iyi chirwere Kazhinji kusingarapiki kwazvinoita kuti autonomic maitiro nomuzongoza. Pakazosvika makore wevarwere gumi anogona kuderera kakawanda kurwiswa, asi chose rakadzikadzika unyanzvi kuzvimirira kufamba. In mamiriro ichi, vana vanogona kuramba kwemakumi emakore. Pasinei zvinokosha zvarakasiya mu kwomuviri, varwere vane kuyaruka zvakakwana.

Zvose pamusoro zviratidzo anogona kusarudza pane padanho iri Rett syndrome. Zviratidzo zvirwere zvinosiyana zvichienderana kumhanya kunoita chirwere uye zvimwe nomumwe zviri mumuviri.

Sei kuziva zvokurwara?

Chirwere chirwere vagara vandifungira chiremba mufananidzo kuchengetwa. Kana nokufungirana uyu chirwere vana kazhinji akatumirwa Hardware nemiedzo. Zvinosanganisira kuongorora mamiriro uropi kubudikidza CT nokuyerwa wayo bioelectric webasa eeg uye Ultrasound.

Zvirwere, kunyanya mukutanga mumatanho okukura, rinowanzoshandiswa kuvhiringidzwa autism. Zvisinei, pane vakawanda kusiyana kuti kusiyanisa izvi zviviri pathologies akasiyana zvachose.

In mwedzi yokutanga muupenyu, vana autistic kare pane maitiro zviratidzo chirwere risingagoni akati pamusoro Rett syndrome. Kana autistic nyonganyonga, vana kazhinji kushandisa manipulations siyana pamwe akapoteredza zvinhu, uye vane pachangu nyasha. Rett chirwere kakawanda kuonekwa nevana kuomarara muna kufamba nekuda injini uye tsandanyama zvirwere ake. Uyezve, zviri pamwe chete kwenguva refu zvipusha nezvipusha, deceleration romusoro kukura uye dambudziko kufema. Saka, vachinyatsoziva mufambiro differential chirwere zvakarurama kuona inokosha chimiro chirwere, uyewo zvakakodzera kurapwa uye vapore matanho.

zvinodhaka kurapa

Modern nzira kurapa chirwere, iri urombo zvishoma. Chinhu chikuru nharaunda yokurapa - easing symptomatic zvinoratidza chirwere uye achimbozvizorodza mamiriro muvarwere vaduku kushandisa zvinodhaka. Chii mishonga vari ushandiswe vana vane chirwere che "Rett urwere"? Treatment Kazhinji unotora:

1. Kugamuchirwa anticonvulsants ichivharira netsviyo.
2. Kushandiswa "Melatonin" nokuti mutemo zvipenyu kwadzinoita zuva / usiku.
3. Kushandisa zvinodhaka kuti vavandudze ropa wokufambisa uye kweiyi uropi.

Kana pfari recur pamwe kakawanda zvikuru, anticonvulsants kushanda kungava pasi. Kazhinji, vana vane chirwere ichi ushandiswe "carbamazepine". chokushandisa Izvi semhosva simba anticonvulsants.

In dzakafanana, kazhinji ushandiswe "lamotrigine". Izvi zvinoreva tichishandisa achangobva akaonekwa pharmacology. Rinovatadzisa ari kupinda ari monosodium munyu iri CNS. Masayendisiti ndikawana vakawedzera zviri muvanhu cerebrospinal mvura varwere nechirwere kuti "Rett kuti urwere". Zvikonzero Fani iyi dzichiri kuzivikanwa.

chinyakare kwomuchipatara

Kuwedzera kurapika, vanachiremba vanoti chaiyo kudya. Wakaitwa nomunhu uremu. The Kudya inofanira kuva akapfuma faibha, mavhitaminzi uye muviri zvigadzirwa. Izvi zvinoda kakawanda dzichifura (maawa matatu ose). zvokudya zvakadaro zvinobatsira kuti Kudzikamiswa varwere.

Marapirwo zvakare rinosanganisira masaja uye anokosha muviri. Zvirongwa zvakadaro kurovedza muviri kungawedzera kukura mwana maoko nemakumbo, kuwedzera kuchinja-siyana dzomuviri, uyewo kukurudzira tsandanyama matauriro.

Nyanzvi dzinoti mimhanzi ine kubatsira vana pamwe chirwere ichi. It chinonyaradza kwete chete, asiwo zvinosimudzira kufarira nyika yakavapoteredza.

Rett chirwere muvana nhasi vari kurapwa unyanzvi vapore nzvimbo. Ivo zvinowanikwa mumaguta ose makuru kusvika. Pano, varwere vaduku ajairane nyika yakavapoteredza yokuita makirasi yedzidzo inokosha.

Zvaifungidzirwa

Kuti basa racho zvakafanira kurapwa, masayendisiti munyika yose kuramba vachishingaira kuongorora Rett syndrome. Forecast unyanzvi mune mubvunzo uyu sokukumbira. Panguva iyoyo, kukura chaiyo hunde masero, hwaishandiswa Papera inogona kukurira chirwere ichi inotyisa. Uyezve, "mushonga" akadaro watopiwa zvinobudirira kuedzwa pamusoro mumarabhoritari mbeva.

Munyaya ino, takaudzwa kuti ndiye Rett syndrome. Photos vana vakaremara dzinogona kuwanikwa kushandiswa zvokurapa mabhuku. Ichi chirwere chisingawanzowaniki chaizvo, iyo kazhinji chirwere mu vasikana. Kana tikaenzanisa pamwe mupfungwa retardation, chirwere ichi mu mwedzi yokutanga muupenyu haisi kunoratidzwa zvokunze zviratidzo. Mumwedzi mitanhatu, pane matambudziko psychomotor kukura, mbudzana anorasikirwa zvose unyanzvi uye zvachose asingadi kuteerera dzakapoteredza mananara uye zvinhu. Pamwe navanachiremba mufananidzo kunowedzera pamusoro nguva. Zvinosuruvarisa, chirwere ichi hazvigoni kukunda zvakajeka. mushonga Modern inopa-siyana mishonga kuderedza zviratidzo chirwere. Mukuwedzera, rinobatsira kukanganisa mwana utano physiotherapy (zviitwa, kukwizwa), kudzidziswa kushandiswa vapore nzvimbo uye zvipatara.

Tinovimba kuti vose mashoko munyaya ino panyaya zvingava kuti chaizvoizvo kubatsira. Stay utano!