Ngokuba yiRett syndrome kubantwana: oonobangela, iimpawu, imiqondiso, unyango. Yintoni uphawu yiRett syndrome?

YiRett Syndrome - yinto uhlobo lwesifo okuqhubekayo sisiba mandundu ebonakala CNS. Le ngezifo zemfuza kumiselwa ezinqabileyo leyo iqalisa kakhulu amantombazana besebancinane. Oku kunganxulunyaniswa iqela zempilo yengqondo kunye nokuphazamiseka engqondweni, esi sifo kuba kuchaphazela iinxalenye ebalulekileyo umzimba: ukusebenza ingqondo, uphuhliso eqhelekileyo inkqubo musculoskeletal, inkqubo luvo. Okwangoku, oogqirha akunamandla okunikela unyango olwaneleyo sesi sifo, njengoko uhlobo imvelaphi yayo kuxhomekeke kwizinga omzimba kwakunye zeselula.

Yintoni eyenza le ngezifo evela Autism ezaziwayo-kakuhle? Ziintoni iimpawu eziye? Ngaba kunokwenzeka ukuba azisinyangi isifo encediswa amayeza? Iimpendulo zale mibuzo neminye emininzi zifumaneka ngale nqaku.

ezinye izibalo

YiRett Syndrome - a ezingaqhelekanga, yemfuza endalo, nto leyo kukholelwa ukuba umlinganiswa njengelifa. Ukuze aphande ngokuchanekileyo ngaphezulu oonobangela zesi sifo, izazinzulu iminyaka eliqela ucazululo lwengingqi ukunwenwa kwesi sifo, leyo laphumelela ukuchonga obunamanani ethile sifo ngo abantwana ukusuka kwindawo enabantu. Ezi "iipokotho" kwaqwalaselwa eNorway, Hungary kunye Italy.

Esi sifo waqalisa ukuhlola ngokubonakalayo kuphela kwiminyaka engama-15 edlulileyo. Okwangoku, uhlobo iyinene kule sifo kubonakala kude kube sekupheleni. Izazinzulu ezivela ehlabathini lonke kuqhubeka ukufunda eli mba, injongo ephambili kuzo kugqalwa isiphawuli zebhayoloji lophendlo jikelele. Ngenxa yazo, nguye owathi kamva iya kudala iindlela ezintsha ezisebenzayo kunyango kuphela kwesi sifo, kodwa nezinye izifo ezininzi uhlobo zofuzo efanayo.

Ngokutsho manani, 10-15 amawaka abantwana bazalwa kukho mnye kuphela umntwana ababhinqileyo unesifo onjalo. Ngokuba yiRett syndrome kubafana kunqabile kakhulu kwaye asihambelani ebomini.

Imbali sifo

Ngowe-1954, wezifo odumileyo Austrian Andreas yiRett kuqala wafumanisa oku zesifo sifo. Ngethuba loviwo amantombazana amabini kunye abagula ngengqondo ugqirha spectrum ezicacileyo waphawula iimpawu uncharacteristic sengqondo esiyingozi: ngesandla-Ukucofa, ucinezelo neminwe kukubamba na elide, bezihlikihla ngezandla zakhe ngokungathi umntwana ubahlambe ngaphantsi kwamanzi. iintshukumo ezifana ziphindwa kunye periodicity ethile kwaye ingazinzi kunye karhulumente ngokweemvakalelo, ukuqala ukuntywiliselwa ngokupheleleyo kwaye ugcina kuqala ngesiquphe imikhwazo. Kamva, wezifo wasiphakamisa ukufunda kula matyala mabini, wafumanana umfanekiso ofanayo kwezonyango kwezinye imbali, elathi ukuba ukuchonga leengxaki kwiyuniti eyahlukileyo.

Ngo-1966, yingcali owona syndrome isekhona amantombazana-31, yaye kamva yapapasha iziphumo iminyaka yophando kwiimpapasho German-iilwimi ezininzi. Noko ke, ngelo xesha ngezifo omtsha akakakwamkeli ehlabathini, kodwa emva kweminyaka engama-20 kuye kwaqatshelwa kumgangatho wamazwe ngamazwe yaye wabizwa ngokuba "yiRett syndrome" wokuwonga elaa discoverer.

Ukususela ngoko, izazinzulu ehlabathini lonke waqalisa ukufundela esi sifo esebenzayo kunye umyalezo wayo.

Izizathu

Xa pathology e sisifo esahlukileyo, iingcali ndiqalile ukubeka phambili iingcamango ezahlukeneyo ezibangela yophuhliso lwayo. Kuqala wacinga ukuba esi sifo indalo ezahlukeneyo yemfuza, oko kukuthi ityala gene wezakhi. Ukunxaxha ezilolu hlobo ngenxa yobukho kukho inani elikhulu amaqhina igazi umnombo womntu.

Kwelinye icala, kuye kwacetyiswa mgaqweni chromosomal njengoko unobangela esi sifo. Sithetha phambi wesahlulo frangible yengalo elifutshane X chromosome. Izazinzulu zibonisa ukuba le yeyona ndawo unoxanduva lokuqulunqa leengxaki.

uphando Emva ngalo mbandela lubonisa ukuba izigulane unesifo onjalo Kwandile kukho ezinye ukunyhashwa kwi zofuzo. Yiyo le into oyena nobangela ukuphazamiseka kwengqondo, akwaziwa.

Ekuphela kwento ikwazile ukwakha kanye le ubudala izigulane. Ngokutsho oogqirha, ezibangelwa zaseprayimari ebuchotsheni uvuke kokuzalwa komntwana, kwaye ngomnyaka wesine ubomi bakhe uphuhliso iyeka ngokupheleleyo. Ngaphezu koko, ezi abantwana bangabinakho ukuphuhlisa ngokupheleleyo kwaye ngendlela ebonakalayo.

Iimpawu zokuqala yiRett syndrome

Kwinyanga yokuqala yobomi, usana ejonge ziphilile, oogqirha ngokuqhelekileyo akukho urhano nawuphi na ububi. INtloko ojikeleyo nayo ngaphakathi olumisiweyo parameters. Inye kuphela asenokubonisa izifo, oku flaccidity kwezihlunu ezingephi kunye iimpawu hypotension. Le yokugqibela kuquka kubushushu obuphantsi, pallor ulusu kunye handprints ukubila ngokugqithiseleyo.

iinyanga Malunga 4-5 ukuze babe iimpawu obubonakalayo ukuqhwalela ekuphuhliseni izakhono motor (ukukhasa, uzibhuqa umva). Kamva, abantwana yiRett syndrome bakufumanisa kunzima ukuhlala ume.

YiRett Syndrome: iimpawu

Ngokwahlukeneyo kuyimfuneko ukuba baqwalasele iimpawu ezingundoqo, nto leyo kwafunyaniswa esi sifo. Xa yezonyango, kukho iimeko apho diagnosis engachanekanga wavuswa ngenxa kabi umqondiso esi sifo, nto leyo ebangela ukufa ngokukhawuleza. Yintoni uphawu yiRett syndrome?

• iintshukumo ngesandla ethile. Xa abantwana lo unesifo iyanyamalala kancane izakhono bebambene izinto ezandleni zakhe. Kulo mzekelo, kukho isindululo phindo, luphawulwa mmangalelwa rhoqo iminwe okanye ukuqhwaba kwinqanaba esifubeni. Umntwana unakho yaluma isandla sakho okanye hit nabo wena kwiindawo ezahlukeneyo zomzimba.
• uphuhliso Mental. Isifo luphawulwa ukukhubazeka engqondweni nokusilela umsebenzi kwengqondo, nto leyo eqhelekileyo ukuba kubelekwa. Abanye abantwana bafumane izakhono ephambili ukuthetha kunye imbono zabanye, kodwa ekugqibeleni ukulahlekelwa ngabo ngokupheleleyo.
• microcephaly Severe. Ngenxa yokuncipha kwenani ubukhulu ebuchotsheni intloko ngcembe ukukhula oyekayo.
• Ukuxhuzula. Lwentando yiRett syndrome zithathwa sokuwa.
• Ukuphuhlisa zokufota. Ukungaqheleki kule kwicandelo spinal kuvela kungekudala kamva kuzo zonke abantwana nalo noxilongo. Isizathu sokuba ugobile emva yi DYSTONIA.

isigaba syndrome yophuhliso

Iqhubeka, isifo izigaba ezine, nganye eneyazo umfanekiso lwezonyango isici.

• Isigaba №1. Ukuphambuka sokuqala kuphuhliso umntwana bathi kweminyaka iinyanga ezine ukuya malunga neminyaka emibini. Kwizigulane kunye nokukhula ezilibazisekileyo lasentloko, kukho buthathaka kwezihlunu, silale kunye nokunqongophala umdla ehlabathini ezingqongileyo.
• Isigaba №2. Ukuba umntwana afunde ukuhamba ukuya kunyaka okanye avakalise amanye amagama, zonke ezi zakhono idla zilahlekile ukusuka kwelinye ukuya kwiminyaka emibini. Okwangoku kukho nokuqhathwa ezithile izandla, iingxaki ukuphefumla, ukuphazamiseka uququzelelo yesiqhelo. Abanye abantwana ukugula. unyango kwangumqondiso of yiRett syndrome ngeli xesha uhlala yayingaphelele.
• Isigaba №3. Phakathi kwiminyaka emithathu ukuya elithoba kuyo uzinzile. Isigaba sesithathu luphawulwa ukukhubazeka engqondweni, ukuphazamiseka extrapyramidal xa kufakwe twitching "wobuthongo" kunye ndindisholo.
• Step №4. Kweli nqanaba esi sifo ngamaxa amaninzi kubonwa umonakalo ongenakulungiseka kwinkqubo yawo kunye umqolo. Xa eneminyaka izigulane ezilishumi ukuze ukunciphisa nezihlandlo ukuhlaselwa, kodwa nobuchule enzonzobileni ngokupheleleyo yokuhamba elizimeleyo. Kule meko, abantwana banako ukuhlala eminyaka. Nangona ezinxaxhileyo ebalulekileyo kuphuhliso ngokwasemzimbeni, izigulane kufuneka ukufikisa ngokupheleleyo.

Zonke ezi mpawu zingentla kuqikelela ngexesha yintoni nqanaba yiRett syndrome. Iimpawu izifo iyohluka, ngokuxhomekeke kwisantya ukuqhubela phambili kwesifo kunye neempawu ezithile ngamnye umzimba.

Indlela ukuqaphela zokugula?

Lokufunyaniswa kwesifo ixhomekeke umfanekiso lwezonyango waphawula. Xa urhano kwesi sifo abantwana idla wathumela ukuba iimvavanyo iintsimbi kulo. Oku kuquka uvavanyo karhulumente yobuchopho ngu CT kumetwa umsebenzi wayo bioelectric yi EEG ultrasound.

Disease, ingakumbi xa nisaqala zophuhliso, idla bedidekile Autism. Nakuba kunjalo, kukho iqela lweeyantlukwano ezohlula ezi ezimbi ezimbini ezahlukeneyo ngokupheleleyo.

Kwiinyanga zokuqala ezimbalwa zobomi, abantwana autistic sele kukho iimpawu uphawu isifo akunakuthethwa malunga yiRett syndrome. Xa disorder autistic, abantwana badla kubhenela zazo ezahlukeneyo kunye nezinto ezisingqongileyo, abe ubabalo ngokungaqhelekanga. Ngokuba yiRett syndrome amaninzi kubonakala kubantwana ukuqina kwi intshukumo wakhe ngenxa motor kunye ukuphazamiseka dystrophy. Ngaphezu koko, oko kukhatshwa ukuxhuzula elide unesathuthwane, deceleration yokukhula intloko kunye nobunzima uphefumlayo. Ngenxa yoko, ngexesha ihambo umahluko Uxilongo ukugqiba ngokuchanileyo uhlobo olusisiseko sifo, kwakunye unyango nokubuyiselwa kwimo yesiqhelo amanyathelo afanelekileyo.

unyango ngamachiza

iindlela yanamhlanje ekunyangeni izifo, siyawenza kuphela. Indawo ephambili unyango - ukwehla ezibonisa kwangumqondiso sifo yaye ukhulula imeko izigulane abatsha usebenzisa iziyobisi. Ziziphi amayeza lalathelwe abantwana unesifo "yiRett syndrome"? Unyango ngokuqhelekileyo iquka:

1. anticonvulsants Reception ekuvimbeni ukuxhuzula.
2. Ukusetyenziswa "Melatonin" lokulawula indlela ngokobugcisa imini / ebusuku.
3. Ukusetyenziswa kweziyobisi ukuphucula kwegazi nqgo ebuchotsheni.

Ukuba ukuxhuzula ziyabuya rhoqo olukhulu, anticonvulsants ngobuchule ukuze abe sezantsi. Ngokuqhelekileyo, abantwana nesi sifo emiselweyo "carbamazepine". Esi sixhobo ihlelwa anticonvulsants olomeleleyo.

Ngokuhambelana, ngokuqhelekileyo emiselweyo "lamotrigine". Oku kuthetha kuthelekiswa kutshanje wabonakala Pharmacology. Oku kuthintela kwii le iMonosodium ityuwa i CNS. Izazinzulu ziye zafumana ukwanda umxholo kweziyobisi ulwelo fluid lwezigulane kunye lokufunyaniswa "syndrome yiRett kaThixo". Izizathu zale meko zisekhona ayaziwa.

amayeza emveli

Ukongezelela kunyango ngamachiza, oogqirha bacebisa ukutya okhethekileyo. Yenziwe kwi qho ngamnye umzimba. Yokudla kufuneka abe zizityebi ifayibha, iivithamini kunye neemveliso zesondlo. Oku kufuna ukutya rhoqo (qho kwiiyure ezintathu). ukutya okunjalo kunegalelo Ukuzinziswa izigulane.

Unyango kwakhona ibandakanya umyalezo kunye imithambo ezizodwa. Iiseshoni Ezo umsebenzi komzimba igalelo kuphuhliso umntwana omzimba, ukunyusa bungqingqwa amalungu omzimba ezahlukeneyo, kwakunye nokukhuthaza kwezihlunu.

Iingcali qaphela ukuba umculo kwamnceda kubantwana nesi sifo. It ethoba nje kuphela, kodwa elikhuthaza umdla kwihlabathi elibangqongileyo.

Ngokuba yiRett syndrome kubantwana namhlanje baphathwa kumaziko ezizodwa zokubuyela esiqhelweni. Ukuba ziyafumaneka phantse yonke imizi emikhulu. Apha, izigulane abaselula ziziqhelanise kwihlabathi elibangqongileyo ukubamba iiklasi zemfundo ezizodwa.

uqikelelo

Ukuba unikeze unyango kuyimfuneko, izazinzulu evela ehlabathini lonke kuqhubeka ukuphonononga ngenkuthalo yiRett syndrome. iingcali wezulu kulo mbuzo kule affirmative. Okwangoku, ukuphuhlisa iiseli ezikhethekileyo esiqwini, esebenzisa leyo kamva ukweyiswa esi sifo soyikekayo. Ngaphezu koko, ezifana "amayeza" sele ivavanywe mpuku zelebhu ngempumelelo.

Kweli nqaku, senza baxelelwa ukuba yiRett syndrome. Amafoto yabantwana abakhubazekileyo inokufumaneka iincwadi reference zonyango ezikhethekileyo. Esi sisifo inqabile kakhulu, nto leyo kakhulu sifo e amantombazana. Xa uthelekisa ne ukukhubazeka engqondweni, esi sifo kwiinyanga zokuqala ezimbalwa zobomi akuxhomekekanga kuboniswa iimpawu zangaphandle. Kwiinyanga ezintandathu, kukho iingxaki kunye nophuhliso lengqondo, inkunzi ulahlekelwa zonke izakhono ngokupheleleyo akaphenduli ukuya nokuhlalisana izinto ezingqongileyo. Ngomfanekiso lwezonyango iba mandundu ngokuhamba kwexesha. Ngelishwa, le isifo iphumelele ngenqindi phantsi. yesilungu linikeza iintlobo amayeza ukuze kuncitshiswe iimpawu zesi sifo. Ukongeza, kukho nefuthe yingenelo kwi physiotherapy engempilo yomntwana (umthambo, zokuthambisa), uqeqesho kumaziko ezizodwa zokubuyela kunye nasezibhedlele.

Siyathemba ukuba yonke ingcaciso enikwe kweli nqaku malunga nesihloko uya kuba ukuba sibe luncedo. Hlala uphilile!