Okuthiwa i-Rett ezinganeni: izimbangela, izimpawu, izimpawu, ukwelashwa. Kuyini isici okuthiwa i-Rett?

Rett Syndrome - uhlobo okuqhubekayo isifo esiwohlozayo libhekene CNS. Lena ezingavamile zokugula kunqunywa zofuzo okwenzeka ikakhulukazi amantombazane zisencane. It akunakubangelwa iqembu zempilo yengqondo nokuphazamiseka engqondweni, ngoba lesi sifo sihlasela izingxenye ezibalulekile zomzimba: ukusebenza ingqondo, ukuthuthukiswa evamile of the system zemisipha, isimiso sezinzwa esiyinhloko. Okwamanje, odokotela abakwazi ukunikeza ukwelashwa okufanele lesi sifo, njengoba isimo yomsuka itholakala ezingeni yamangqamuzana kanye neselula.

Yini ehlukanisa leli zokugula kusukela Autism owaziwa? Ziyini izimpawu ejwayelekile? Kungenzeka yini ukuba lesi sifo ngosizo imithi? Izimpendulo zale mibuzo neminye eminingi zingatholakala nale sihloko.

Ezinye izibalo

Rett Syndrome - a angahlangani kwezakhi nemvelo, okukholelwa ukuthi abe umlingisi sitholwa njengefa. Ukuze siphenye kahle izimbangela zesifo, ososayensi baye iminyaka eminingi kwenziwa ukuhlaziya indawo ye ukusabalala kwesifo, okuyinto kuphumelele ukuhlonza legciwane ethile yalesi sifo ngo-izingane kusukela endaweni ayinabantu abaningi. Lezi "emaphaketheni" beziphawuleka eNorway, Hungary nase-Italy.

Lesi sifo waqala ngenkuthalo ukuhlola kuphela phakathi nale minyaka engu-15 edlule. Okwamanje, ubunjalo yalesi sifo kweqiniso akubonakali kuze kube sekupheleni. Ososayensi ezivela emhlabeni wonke bayaqhubeka befunda le nkinga, injongo eyinhloko okuyinto kubhekwa umaka begazi yokusesha jikelele. Ngokombono wabo, nguye kamuva kuzodala izindlela ezintsha futhi ngempumelelo ukwelashwa kuphela yilesi sifo kodwa nezinye izifo eziningi ezifanayo imvelo zofuzo.

Ngokwezibalo, ayizinkulungwane 10-15 izingane zizalwa kunendlela eyodwa kuphela ingane insikazi kokutshelwa ngokukhubazeka kwengane. Okuthiwa i-Rett kubafana kukalutshwana kakhulu futhi ayihambisani ne ukuphila.

Umlando isifo

Ngo-1954, isazi sezifo zezingane odumile Austrian Andreas Rett wokuqala abathole le izimpawu isifo. Phakathi luhlolo amantombazane amabili nge sobala udokotela nokugula ngengqondo spectrum waphawula izimpawu uncharacteristic komqondo: ngesandla wringing, kokucindezelwa nehlala njalo ukubamba iminwe, bezihlikihla ngezandla zakhe sengathi ingane ubageze ngaphansi kwamanzi. ukunyakaza okunjalo aphindaphindwe nge PERIODICITY ezithile futhi kanjalo engazinzile ephelezelwa isimo esingokomzwelo, ukuqala ukucwiliswa umnyuziki ziphethe kuqala ngokuzumayo Screams. Ngemva kwalokho, udokotela wezingane wasiphakamisa ukutadisha lezi zimo ezimbili, futhi wathola isithombe efanayo emitholampilo nakwezinye imilando, owamsiza ukuhlonza zokugula e iyunithi ehlukile.

Ngo-1966, ungcweti unomdlavuza syndrome kusadingeka amantombazane 31, futhi kamuva lanyathelisa imiphumela neminyaka ucwaningo ezincwadini eziningana ulimi German-. Nokho, ngaleso sikhathi eyayiyidolobha zokugula entsha engakaze laduma ububanzi, kodwa sekuphele iminyaka engu-20 liye waqaphela ezingeni lomhlaba wonke jikelele futhi wabizwa ngokuthi "okuthiwa i-Rett 'behlonipha owathola.

Kusukela ngaleso sikhathi, ososayensi emhlabeni wonke waqala ukufunda lesi sifo asebenzayo futhi omsakazo yayo.

Izizathu eziyinhloko

Uma zokugula ngesitsha isifo ehlukile, ochwepheshe baye baqala ukubeka phambili nezinkolelo ezihlukahlukene izimbangela sokuthuthuka. Ekuqaleni babecabanga ukuthi isifo sidalwe ezahlukene zofuzo, ukuthi unesandla isakhi sofuzo wezakhi. Ngeziphambeko walolu hlobo ngenxa yokubakhona inqwaba yegazi ehlobana uhlu lozalo lomuntu.

Ngakolunye uhlangothi, kuye kwasikiselwa anomalies chromosomal njengoba kwezimbangela eziyinhloko sifo. Sikhuluma phambi ingxenye frangible yengalo amafishane X chromosome. Ososayensi basikisela ukuthi lokhu endaweni ukwakheka zokugula.

ucwaningo okwalandela on the subject luye lwabonisa ukuthi iziguli ezine-kokutshelwa ngokukhubazeka kwengane empeleni kukhona abanye ukwephula kuma-chromosome. Kuyinto lokhu yikona kuyimbangela eyinhloko yezifo zengqondo, ayikaziwa.

Into kuphela ukuthi iphethwe ukusungula ncamashi kulonyaka iziguli. Ngokusho odokotela, izinhlekelele ezibangelwa eyinhloko ebuchosheni uvuke kokuzalwa komntwana, futhi ngonyaka wesine ukuphila kwakhe ukuthuthukiswa eyeka ngokuphelele. Ngaphezu kwalokho, lezi zingane akakwazi ukuthuthukisa ngokugcwele futhi ngomqondo ongokoqobo.

Izimpawu zokuqala okuthiwa i-Rett

Ezinyangeni zokuqala kakhulu zokuphila, usana ubukeka ephelele, odokotela bavame akukho izinsolo noma yibuphi ububi obenzile. Shona selilonke futhi ngaphakathi kwemigomo normative. Into kuphela ukuthi kungase kubonise isifo, lena ezincane imisipha flaccidity nezimpawu hypotension. Lesi sakamuva kuhlanganisa lokushisa ongaphakeme, pallor kwesikhumba futhi ngokweqile ukujuluka handprints.

Cishe ezinyangeni 4-5 babe izimpawu elibonakalayo lag ekuthuthukiseni amanye amakhono motor (nokudweba, kweqa ngemuva). Kamuva, izingane okuthiwa i-Rett thola kunzima ukuhlala futhi ume.

Rett Syndrome: izimpawu

Eceleni kubalulekile ukugxila izimpawu ezisemqoka, okuyinto unomdlavuza isifo. Zokwelapha, kuba khona uphethwe ayilungile ephakanyiswe ngenxa ekuchazweni yesibonakaliso sokuba lesi sifo, eliphumela ukufa okusheshayo. Kuyini isici okuthiwa i-Rett?

• Specific isandla ukunyakaza. Ezinganeni nale Ihlahlubo iyanyamalala kancane kancane amakhono ubambe izinto ezandleni zakhe. Kulokhu, kukhona ezinyakazayo okuphindayo, libhekene mmangalelwa okuqhubekayo neminwe noma ihlombe ngesikhathi esifubeni ezingeni. Ingane kungaluma isandla sakho noma hit ngokwakho ezingxenyeni ezihlukahlukene zomzimba.
• kwengqondo. Lesi sifo libhekene retardation engqondo nokungawuvivinyi engqondweni yethu, okuyinto ejwayelekile izinsana. Ezinye izingane bathole amakhono eyinhloko ekhuluma futhi umbono wabanye, kodwa ekugcineni ulahlekelwe yizo ngokuphelele.
• microcephaly Sinzima. Ngenxa ukwehla ubungako bobuchopho kancane kancane inhloko ukukhula uyama.
• Nokuquleka. Uphawu okuthiwa i-Rett ezibhekwa zesifo sokuwa.
• Ukuthuthukisa ukugobeka komhlandla. Ukukhubazeka ingxenye umgogodla avele ngokushesha noma kamuva kuzo zonke izingane nale uphethwe. Isizathu sokuba ugobile emuva kuyinto dystonia.

syndrome komqondo nezinga lokukhula kwengane

Iqhubeka, lesi sifo singumbulali izigaba ezine eziyinhloko, ngamunye ephethe isithombe isici emtholampilo.

• Isiteji №1. Ukusuka kokuqala ekukhuleni kwengane uthi ubudala ezinyangeni ezine kuya eminyakeni engaba mibili. In iziguli ngokwanda imisiwe ikhanda, kukhona ukuba buthakathaka kwezicubu, ukucobeka futhi ukungabi nasithakazelo emhlabeni ezungeze.
• Isiteji №2. Uma ingane isifunde zihambe ngonyaka noma athi amanye amagama, zonke lezi amakhono kuvame angekho eyodwa iminyaka emibili. Kulesi sigaba kukhona zokukhwabanisa ezithile ngezandla, izinkinga ukuphefumula, ukuphazamiseka ukudidiyelwa evamile. Ezinye izingane nokuquleka. ukwelashwa okunezimpawu ye okuthiwa i-Rett kulesigaba uhlala ingaphelele.
• Isiteji №3. Phakathi neminyaka emithathu kwabayisishiyagalolunye ke uzinzile. Isigaba sesithathu libhekene retardation engqondo, iziyaluyalu extrapyramidal lapho indawo ukunyakazisa "stupor" nokudungeka.
• Isinyathelo №4. Ngalesi nesigaba lesi sifo ngokuvamile kubonakala kokulimala uhlelo autonomic nomgogodla. Lapho sengineminyaka engu-iziguli eziyishumi kungehlisa izinga ukuvama ukuhlaselwa, kodwa amakhono kwalasha ngokuphelele ikhambo ezimele. Kuleli zinga, izingane ungahlala amashumi eminyaka. Naphezu ngeziphambeko okukhulu ekuthuthukiseni ngokomzimba, iziguli ukuthomba ephelele.

Zonke izimpawu ngenhla kungacacisa ukuthi ngasiphi isigaba kuba okuthiwa i-Rett. Ngezimpawu zesifo iyashiyana ijubane ukuqhubeka kwesifo kanye ezinye izici ngazinye emzimbeni.

Kanjani ukuqaphela zokugula?

Sifo sifo kunqunywa isithombe emtholampilo uyalandelwa. Lapho esolwa lokhu izingane isifo ngokuvamile ithunyelwa ukuhlolwa hardware. Kuhlanganisa esimeni sokuhlola zobuchopho by CT nesilinganiso umsebenzi wayo bioelectric ngu Bheka kanye ultrasound.

Izifo, ikakhulukazi kusaqalwa ukuthuthukiswa, ngokuvamile kudidaniswe Autism. Nokho, kukhona eziningi umehluko ukuthi ukuhlukanisa lezi pathologies ezimbili ezihlukene ngokuphelele.

Ezinyangeni zokuqala ezimbalwa ekuphileni, abantwana autistic kakade zikhona izimpawu nobuntu isifo asikwazi ishiwo okuthiwa i-Rett. Lapho disorder autistic, izingane ngokuvamile ziphendukela manipulations ahlukahlukene kanye izinto ezizungezile, futhi ube umusa eyinqaba. Okuthiwa i-Rett uvame ukubonakala ezinganeni ukuqina ukunyakaza kwakhe ngenxa motor neziyaluyalu kwemisipha. Ngaphezu kwalokho, kuhambisana nesimo sokuquleka isikhathi eside nabanesithuthwane, deceleration zekhanda ukukhula nobunzima ukuphefumula. Ngakho, ngesikhathi esifanele ukuziphatha umehluko ukuxilongwa ukunquma ngokunembile ifomu eziyisisekelo lesi sifo, kanye ezifanele ngelashwa izinyathelo.

ukwelashwa

izindlela zesimanje ekwelapheni isifo, is ngeshwa kungagcini. Umkhakha ukhiye yokwelapha - Umane ukubonakaliswa lingaze lesi sifo futhi ukhulula isimo seziguli ezisencane usebenzisa izidakamizwa. Yini imithi kuyabekwa izingane kwathiwa unesifo "okuthiwa i-Rett"? Ukwelashwa ngokuvamile yakhiwa:

1. Reception anticonvulsants ekuvimbeni isithuthwane.
2. Ukusetshenziswa "melatonin" ukulawulwa imodi begazi ngosuku / ubusuku.
3. Ukusetshenziswa kwezidakamizwa ukuthuthukisa kwegazi nqgo zobuchopho.

Uma nokuquleka ziyabuya ne imvamisa omkhulu, anticonvulsants kahle kungase kube ongaphakeme. Ngokuvamile, izingane ezinalesi sifo okunqunyiwe "carbamazepine". Leli thuluzi libhekwa njengoba anticonvulsants eqinile.

Ngo parallel, ngokuvamile okunqunyiwe "lamotrigine". Lokhu kusho esanda kutholakala uvele kwemithi. It kuvimbela Ukungena usawoti monosodium ku CNS. Ososayensi baye bathola ukuthi okuqukethwe ketshezi anda cerebrospinal fluid kweziguli sitholakele "Rett Syndrome". Izizathu zalokhu mkhuba kukhona ayikaziwa.

zokwelapha ezivamile

Ngaphezu ukwelashwa izidakamizwa, odokotela batusa uhlobo olukhethekile lokudla. Wenziwe njalo ngamanye isisindo somzimba. Ukudla kufanele kube okune-fibre, amavithamini kanye nemikhiqizo yokudla okunempilo. Lokhu kudinga yokudla njalo (njalo ngemuva kwamahora amathathu). ukudla okunjalo kunomthelela kuqiniswa iziguli.

Ukwelapha sihlanganisa massage and umzimba ezikhethekile. amaseshini ezinjalo umsebenzi ngokomzimba neqhaza ekuthuthukiseni yezingalo nemilenze ingane, ukwandisa nezimo of ezingxenyeni ezihlukahlukene zomzimba, kanye ukugqugquzela imisipha ithoni.

Ochwepheshe uqaphele ukuthi umculo has Kusizuzisa ezinganeni ezinalesi sifo. It hhayi kuphela upholisa, kodwa futhi kuvusa isithakazelo nezwe elibazungezile.

Okuthiwa i-Rett ezinganeni namuhla ziphathwa e ezikhethekile nokuvuselelwa izikhungo. Zitholakala cishe zonke emadolobheni amakhulu. Lapha, seziguli ezisencane ukuzivumelanisa nezwe elibazungezile ukubamba amakilasi ekhethekile zemfundo.

Isibikezelo sezulu sezinsuku

Ukwabela ukwelashwa ezidingekayo, ososayensi ezivela emhlabeni wonke bayaqhubeka ngenkuthalo ukuhlola okuthiwa i-Rett. Ochwepheshe Isibikezelo kule mbuzo ngoyebo. Okwamanje, ukuthuthukisa stem cells ekhethekile, esebenzisa ezingasetshenziswa kamuva unqobe yilesi sifo esesabekayo. Ngaphezu kwalokho, "imithi" enjalo isivele ihlolwe ngempumelelo amagundane laboratory.

Kulesi sihloko, satshelwa ukuthi Rett Syndrome. Izithombe nezingane ezikhubazekile ingatholakala ezikhethekile yezokwelapha izincwadi. Lesi isifo ezingavamile kakhulu, okuyinto ikakhulu kutholakala amantombazane. Uma siqhathanisa nge retardation engqondo, yilesi sifo ezinyangeni zokuqala ezimbalwa lokuphila owabonakaliswa izimpawu zangaphandle. Ezinyangeni eziyisithupha, kukhona izinkinga kanye nokuthuthukiswa lengqondo, izinyane ilahlekelwa wonke amakhono kanye ngokuphelele akasabeli izenzakalo ezizungezile kanye netintfo. Emva kokukhetha isithombe emtholampilo Ubangwa ngokuhamba kwesikhathi. Ngeshwa, lesi sifo okungeke kwanqotshwa ngokuqondile. imithi yesimanje inikeza ezihlukahlukene imithi ukunciphisa izimpawu zesifo. Ngaphezu kwalokho, umthelela nenzuzo empilweni Physiotherapy wengane (izivivinyo, ukubhucungwa), ukuqeqeshwa okukhethekile nokuvuselelwa izikhungo kanye nezibhedlela.

Sithemba ukuthi lonke ulwazi oluhlinzekwe kule sihloko ngesihloko kungaba ngawe empeleni abe wusizo. Hlala uphilile!