Ungayibona Kanjani I-Rett Syndrome

-Delile

• Izici ze-Rett Syndrome
• Ukuxilongwa kwenziwa kanjani
• Isikhathi sokuphila
• Yini ebangela i-Rett Syndrome
• Ukwelashwa Kwe-Rett Syndrome

I-Rett's syndrome, ebizwa nangokuthi i-cerebro-atrophic hyperammonemia, yisifo sezakhi zofuzo esingavamile esithinta isimiso sezinzwa futhi sithinta cishe amantombazane kuphela.

Izingane ezine-Rett syndrome ziyeka ukudlala, zihlukaniswe zodwa futhi zilahlekelwe amakhono azo okufunda, njengokuhamba, ukukhuluma noma ngisho nokuhambisa izandla, okwenza ukunyakaza kwezandla okungazibandakanyi okuyizimpawu zalesi sifo.

I-Rett syndrome ayinalo ikhambi kepha ingalawulwa ngokusetshenziswa kwezidakamizwa ezinciphisa ukuquleka kwesithuthwane, ukuqina nokuphefumula, ngokwesibonelo. Kepha ukwelashwa ngokomzimba nokuvuselelwa kwengqondo kusiza kakhulu, futhi kufanele kwenziwe, okungcono, nsuku zonke.

Izici ze-Rett Syndrome

Ngaphandle kwezimpawu iningi elibiza ukunakwa kwabazali livela kuphela ngemuva kwezinyanga eziyisithupha zokuphila, ingane ene-Rett syndrome ine-hypotonia, futhi ingabonwa ngabazali nomndeni, njengengane 'enhle kakhulu' futhi ekulula ukuyinakekela ye.

Lesi sifo sikhula ngezigaba ezi-4 futhi kwesinye isikhathi ukuxilongwa kufika kuphela cishe eminyakeni engu-1 ubudala, noma kamuva, kuya ngezimpawu ezilethwa yingane ngayinye.

Isigaba sokuqala, kwenzeka phakathi kwezinyanga eziyisithupha kuya kwezingu-18 zokuphila, futhi kukhona:

• Ukuvimba ukukhula kwengane;
• Umjikelezo wekhanda awulandeli ijika elijwayelekile lokukhula;
• Ukwehla kwesasasa kwabanye abantu noma ezinganeni, ezinomkhuba wokuzihlukanisa.

Izinga lesibili, kwenzeka kusukela eminyakeni yobudala engu-3 futhi ingahlala amasonto noma izinyanga:

• Ingane ikhala kakhulu, ngisho nangaphandle kwesizathu;
• Ingane ihlala icasukile;
• Ukunyakaza kwezandla okuphindaphindekayo kuvela;
• Izinguquko zokuphefumula ziyavela, ngokuphefumula kumisiwe emini, umzuzwana wezinga lokuphefumula lenyukile;
• Ukudlikizela nokuhlaselwa yisifo sokuwa usuku lonke;
• Izinkinga zokulala zingandile;
• Ingane ebivele ikhulumile, ingayeka ukukhuluma ngokuphelele.

Isigaba sesithathu, okwenzeka cishe eminyakeni emi-2 nengu-10 edlule:

• Kungahle kube nokuthuthuka kwezinye izimpawu ezethulwe kuze kube manje futhi ingane ingabuyela ekuboniseni intshisekelo kwabanye;
• Ubunzima bokuhambisa umboko buyabonakala, kukhona ubunzima bokuma;
• Ukuqothuka kungenzeka kube khona;
• I-Scoliosis ithuthukisa lokho kuphazamisa ukusebenza kwamaphaphu;
• Kuvamile ukugaya amazinyo akho lapho ulele;
• Ukondla kungaba okujwayelekile futhi isisindo sengane naso sijwayele ukuba sejwayelekile, ngokunyuka kancane kwesisindo;
• Ingane ingahle iphelelwe umoya, igwinye umoya futhi ibe namathe amaningi.

Isigaba sesine, okwenzeka cishe eminyakeni eyishumi edlule:

• Ukulahleka kokuhamba kancane kancane nokuwohloka kwe-scoliosis;
• Ukuntuleka kwengqondo kuba nzima;
• Izingane ezikwazile ukuhamba zilahlekelwa yileli khono futhi zidinga isihlalo sabakhubazekile.

Izingane ezikwazi ukufunda ukuhamba zisenobunzima bokuhamba futhi ngokuvamile zishayise noma zithathe izinyathelo zokuqala zibuyela emuva. Ngaphezu kwalokho, kungenzeka bangakwazi ukufika ndawo futhi ukuhamba kwabo kubonakala kungenanjongo ngoba akahambi eyohlangana nomunye umuntu, noma acoshe amathoyizi, ngokwesibonelo.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kwenziwa ngudokotela wezifo zengqondo ozohlaziya ingane ngayinye ngokuningiliziwe, ngokusho kwezimpawu eziveziwe. Ukuze uthole ukuxilongwa, okungenani izici ezilandelayo kufanele zibonwe:

• Ngokusobala ukukhula okujwayelekile kuze kube yizinyanga ezinhlanu zokuphila;
• Usayizi wekhanda ojwayelekile lapho kuzalwa, kepha awulandeli isilinganiso esifanele ngemuva kwezinyanga ezinhlanu zokuphila;
• Ukulahleka kwekhono lokuhambisa izandla ngokujwayelekile eminyakeni yobudala engama-24 nengama-30, okwenza ukunyakaza okungalawuleki njengokujija noma ukuletha izandla emlonyeni;
• Ingane iyeka ukuhlangana nabanye abantu ekuqaleni kwalezi zimpawu;
• Ukungabi nokuxhumana kokunyakaza kwe-trunk nokuhamba okungahambisani;
• Ingane ayikhulumi, ayikwazi ukuveza imizwa yayo lapho ifuna okuthile futhi ayiqondi lapho sikhuluma nayo;
• Ukubambezeleka okukhulu kwentuthuko, ngokuhlala, ukukhasa, ukukhuluma nokuhamba emuva kwesikhathi kunokulindelekile.

Enye indlela ethembeke kakhudlwana yokuthola ukuthi ngabe le syndrome iyiyo ngempela yini ukuhlolwa kofuzo ngoba cishe izingane ezingama-80% ezine-classic Rett syndrome zinezinguquko ezakhiweni zofuzo ze-MECP2. Lokhu kuhlolwa akunakwenziwa yi-SUS, kepha akunakuphikwa yizinhlelo zezempilo ezizimele, futhi uma lokhu kwenzeka, kufanele ufake icala.

Isikhathi sokuphila

Izingane ezitholwe zine-Rett Syndrome zingaphila isikhathi eside, zidlule eminyakeni engama-35, kodwa zingathola ukufa okungazelelwe lapho zilele, ziseyizingane. Ezinye izimo ezithanda izinkinga ezinkulu ezingabulala zibandakanya ukuba khona kwezifo, izifo zokuphefumula ezikhula ngenxa ye-scoliosis nokwanda okungalungile kwamaphaphu.

Ingane ingafunda esikoleni futhi ingafunda izinto ezithile, kepha empeleni, kufanele ihlanganiswe nemfundo ekhethekile, lapho ukuba khona kwayo kungadonsi amehlo, okungaphazamisa ukuxhumana kwayo nabanye.

Yini ebangela i-Rett Syndrome

I-Rett Syndrome yisifo sofuzo futhi imvamisa izingane ezithintekayo yizo zodwa emndenini, ngaphandle kwalapho zinamawele, okungenzeka abe nalesi sifo. Lesi sifo asihlotshaniswa nanoma yisiphi isenzo esenziwe ngabazali, ngakho-ke, akudingeki bazizwe benecala.

Ukwelashwa Kwe-Rett Syndrome

Ukwelashwa kufanele kwenziwe ngudokotela wezingane kuze kube yilapho ingane ineminyaka engu-18 ubudala, futhi kufanele ilandelwe ngudokotela ojwayelekile noma udokotela wezinzwa ngemuva kwalokho.

Ukubonisana kufanele kwenzeke njalo ezinyangeni eziyisithupha futhi izimpawu ezibalulekile, ukuphakama, isisindo, ukunemba kwemithi, ukuhlolwa kokukhula kwengane, izinguquko esikhunjeni njengokutholakala kwamanxeba e-decubitus, okuyizifo zombhede ezingatheleleka, kungabonakala kuzo. ingozi yokufa. Ezinye izinto ezingabaluleka wukuhlolwa kwentuthuko nohlelo lokuphefumula nokujikeleza kwegazi.

I-Physiotherapy kufanele yenziwe impilo yonke yomuntu one-Rett Syndrome futhi ilusizo ekuthuthukiseni ithoni, ukuma komzimba, ukuphefumula namasu afana noBobath angasetshenziswa ukusiza ukukhula kwengane.

Izikhathi zokukhuthaza ama-Psychomotor zingabanjwa cishe ama-3 ngeviki futhi zingasiza ekukhuleni kwezimoto, zinciphise ubunzima be-scoliosis, control drool kanye nokuxhumana nomphakathi, ngokwesibonelo. Uchwepheshe uzokwazi ukukhombisa okunye ukuzivocavoca okungenziwa ekhaya ngabazali ukuze umfutho wezinzwa nowezimoto wenziwe nsuku zonke.

Ukuba nomuntu one-Rett Syndrome ekhaya kuwumsebenzi okhandlayo futhi onzima. Abazali bangakhathazeka kakhulu emoyeni futhi ngenxa yalesi sizathu bangelulekwa ukuthi balandelwe ngongoti bezengqondo abangasiza ukubhekana nemizwa yabo.