Uyazi njani iRet Syndrome

Umxholo

• Iimpawu zeRt Syndrome
• Uxilongo lwenziwa njani
• Izinto ozilindile emhlabane
• Yintoni ebangela iRet Syndrome
• Unyango lwe-Rett Syndrome

Isifo sikaRett, esibizwa ngokuba yi-cerebro-atrophic hyperammonemia, sisifo esinqabileyo semfuza esichaphazela inkqubo yeemvakalelo kwaye sichaphazela phantse amantombazana kuphela.

Abantwana abane-Rett syndrome bayayeka ukudlala, baba bodwa kwaye baphulukane nezakhono zabo zokufunda, ezinje ngokuhamba, ukuthetha okanye nokushukumisa izandla zabo, nto leyo ebangela ukuba iintshukumo zezandla zabo zingazibandakanyi ezizimpawu zesi sifo.

I-Rett syndrome ayinalo unyango kodwa inokulawulwa ngokusetyenziswa kweziyobisi ezinciphisa ukuxhuzula, ukungxama nokuphefumla, umzekelo. Kodwa unyango lomzimba kunye nokuvuselelwa kwengqondo kuluncedo olukhulu, kwaye kufuneka lwenziwe, ngokukhethekileyo, yonke imihla.

Iimpawu zeRt Syndrome

Ngaphandle kweempawu ezithi uninzi lwazo ziqwalasele abazali zibonakala kuphela emva kweenyanga ezi-6 zobomi, umntwana one-Rett syndrome une-hypotonia, kwaye unokubonwa ngabazali nosapho, njengosana 'olulunge kakhulu' kwaye kulula ukulukhathalela ye.

Esi sifo sikhula ngokwamanqanaba ama-4 kwaye ngamanye amaxesha ukuxilongwa kufikelela kuphela kwiminyaka eli-1 ubudala, okanye kamva, kuxhomekeke kwimiqondiso eziswa ngumntwana ngamnye.

Isigaba sokuqalaKwenzeka phakathi kweenyanga ezili-6 ne-18 zobomi, kwaye kukho:

• Ukuyekisa ukukhula komntwana;
• Isangqa sentloko asiyilandeli indlela yokukhula yesiqhelo;
• Ukwehla komdla kwabanye abantu okanye ebantwaneni, notyekelo lokuzahlula.

Inqanaba lesibini, ivela kubudala beminyaka emi-3 kwaye inokuhlala iiveki okanye iinyanga:

• Umntwana uyakhala kakhulu, nokuba akukho sizathu;
• Umntwana uhlala ehlala ecaphukile;
• Ukuphindaphindeka kokuhamba kwezandla kuvela;
• Utshintsho lokuphefumula luyavela, ngokuphefumla kuyekile emini, umzuzu wokunyuka kwenqanaba lokuphefumla;
• Ukuxhuzula kunye nokuhlaselwa sisifo sokuwa imini yonke;
• Ukuphazamiseka kokulala kunokuba yinto eqhelekileyo;
• Umntwana osele ethethile, angayeka ukuthetha ngokupheleleyo.

Isigaba sesithathu, eyenzeka malunga ne-2 kunye ne-10 kwiminyaka eyadlulayo:

• Kunokubakho ukuphucuka kwiimpawu ezibonisiweyo ukuza kuthi ga ngoku kwaye umntwana angabuyela ekuboniseni umdla kwabanye;
• Ubunzima bokuhambisa umboko buyabonakala, kukho ubunzima bokuma;
• Ukuxhamla kunokuba khona;
• I-Scoliosis ikhula eyonakalisa ukusebenza kwemiphunga;
• Kuqhelekile ukucola amazinyo xa ulele;
• Ukondla kunokuba yinto eqhelekileyo kwaye ubunzima bomntwana buhlala buqhelekile, ngokunyuka kancinci kubunzima;
• Umntwana unokuphelelwa ngumphefumlo, aginye umoya kwaye abe namathe amaninzi.

Isigaba sesine, eyenzeka kwiminyaka eli-10 eyadlulayo:

• Ukuphulukana nentshukumo kancinci kancinci kunye nokwanda kwescoliosis;
• Ukunqongophala kwengqondo kuba nzima;
• Abantwana abebekwazi ukuhamba baphulukana nobuchule kwaye bafuna isitulo esinamavili.

Abantwana abakwaziyo ukufunda ukuhamba basenobunzima ekuhambeni kwaye ngokutsibilika ngokubanzi okanye bathathe amanyathelo okuqala ukubuyela umva. Ukongeza, abanakho ukufikelela naphi na kwaye ukuhamba kwabo kubonakala kungenanjongo kuba engahambi edibana nomnye umntu, okanye athathe naziphi na izinto zokudlala, umzekelo.

Uxilongo lwenziwa njani

Uxilongo lwenziwa ngugqirha wezifo zengqondo oza kuhlalutya umntwana ngamnye ngokweenkcukacha, ngokweempawu ezizisiweyo. Ukufumanisa isifo, ubuncinci ezi zinto zilandelayo kufuneka ziqwalaselwe:

• Kubonakala ngathi ukukhula okuqhelekileyo kude kube ziinyanga ezi-5 zobomi;
• Ubungakanani bentloko obuqhelekileyo xa kuzalwa, kodwa ayilandeli imilinganiselo efanelekileyo emva kweenyanga ezintlanu zobomi;
• Ukuphulukana nokubanakho ukuhambisa izandla ngokwesiqhelo xa ujikeleze iinyanga ezingama-24 nama-30, unika intshukumo engalawulekiyo njengokujija okanye ukuzisa izandla emlonyeni;
• Umntwana uyayeka ukunxibelelana nabanye abantu ekuqaleni kwezi mpawu;
• Ukungabikho kolungelelwaniso lweentshukumo zomthi kunye nokuhamba okungahambelaniyo;
• Umntwana akathethi, akakwazi ukuveza izimvo zakhe xa efuna into kwaye akaqondi xa sithetha naye;
• Ukulibaziseka okukhulu kophuhliso, kunye nokuhlala, ukukhasa, ukuthetha nokuhamba emva kwexesha kakhulu kunokuba bekulindelwe.

Enye indlela ethembekileyo yokufumanisa ukuba esi sifo siyinyani na kuvavanyo lwemfuza kuba malunga neepesenti ezingama-80 zabantwana abane-classic Rett syndrome baneenguqu kwimfuza ye-MECP2. Olu vavanyo alunakwenziwa yi-SUS, kodwa alunakwaliwa zizicwangciso zempilo zabucala, kwaye ukuba oku kuyenzeka, kufuneka ufake isimangalo.

Izinto ozilindile emhlabane

Abantwana abafunyaniswe bene-Rett Syndrome banokuphila ixesha elide, badlule kwiminyaka engama-35, kodwa bangasweleka ngesiquphe xa belele, beseziintsana. Ezinye zeemeko ezithanda iingxaki ezinokubulala zibandakanya ubukho bosulelo, izifo zokuphefumla ezikhula ngenxa ye-scoliosis kunye nokwanda okungalunganga kwemiphunga.

Umntwana angaya esikolweni kwaye angafunda izinto ezithile, kodwa kufanelekile, kufanele ukuba idityaniswe nemfundo eyodwa, apho ubukho bayo bungazukutsala ngqwalaselo ininzi, enokuthi iphazamise unxibelelwano nabanye.

Yintoni ebangela iRet Syndrome

I-Rett Syndrome sisifo semfuza kwaye ngesiqhelo abantwana abachaphazelekayo ngabo kuphela kusapho, ngaphandle kokuba banamawele, osenokuba nesifo esifanayo. Esi sifo asihambelani naliphi na inyathelo elithathiweyo ngabazali, kwaye ke, akukho mfuneko yokuba bazive benetyala.

Unyango lwe-Rett Syndrome

Unyango kufuneka lwenziwe ngugqirha wabantwana ade abe neminyaka eli-18 ubudala, kwaye kufuneka lulandelwe ngugqirha oqhelekileyo okanye ugqirha wemithambo-luvo emva koko.

Ukubonisana kufuneka kwenzeke qho kwiinyanga ezi-6 kwaye iimpawu ezibalulekileyo, ukuphakama, ubunzima, ukuchaneka kwamayeza, ukuvavanywa kokukhula komntwana, utshintsho kulusu olufana nobukho bamanxeba e-decubitus, anezinto zokubola ezinokusuleleka. umngcipheko wokufa. Eminye imiba enokubaluleka kukuvavanywa kophuhliso kunye nenkqubo yokuphefumla kunye nokujikeleza kwegazi.

I-Physiotherapy kufuneka yenziwe kubomi bomntu one-Rett Syndrome kwaye iluncedo ekuphuculeni ithoni, ukuma komzimba, ukuphefumla kunye neendlela ezinje ngoBobath zinokusetyenziselwa ukunceda ukukhula komntwana.

Iiseshoni zokuvuselela i-Psychomotor zinokubanjwa malunga namaxesha ama-3 ngeveki kwaye zinokunceda kuphuhliso lweemoto, ukunciphisa ubunzima be-scoliosis, ulawulo lwe-drool kunye nokunxibelelana kwezentlalo, umzekelo. Ugqirha uya kuba nakho ukubonisa imithambo enokwenziwa ekhaya ngabazali ukuze inkuthazo yemithambo-luvo kunye nemoto yenziwe mihla le.

Ukuba nomntu one-Rett Syndrome ekhaya ngumsebenzi odinisayo kwaye unzima. Abazali banokudinwa ngokweemvakalelo kwaye ngenxa yesi sizathu banokucetyiswa ukuba balandelwe ngoochwephesha bezengqondo abanokunceda ukujongana neemvakalelo zabo.