Ingabe indodakazi yakho inezinkinga zokukhula? Singaxoxa nge-Rett Syndrome?

Ingane yakho encane, ikakhulukazi intombazane, kungenzeka ukuthi iphawule ukuthi ukuthuthuka kwayo kubambezeleka noma ubunzima bokwenza izinto eyayizenza. Cabanga nje, ingane eyayiqhuba kahle cishe izinyanga eziyisithupha ngokuzumayo iyeka ukufunda izinto ezintsha futhi ize ikhohlwe nezinto eyayizifundile ngaphambili. Kuvamile ukuthi umama noma ubaba azizwe esaba kakhulu futhi ekhathazekile lapho ebona into efana nale. Namuhla sizokhuluma ngesimo esingavamile kakhulu, kodwa esibalulekile ukusazi, esithinta kakhulu amantombazane. Yilokhu esikubiza ngokuthi i-Rett Syndrome .

Iyini i-Rett Syndrome? Kalula nje...

Kalula nje, i-Rett Syndrome iyisimo esingavamile sofuzo kanye nesezinzwa . Ithinta kakhulu amantombazane. Ibangelwa uhlobo oluthile lofuzo esakhiweni somzimba wethu, ikakhulukazi isakhi sofuzo esibizwa ngokuthi i-`MECP2`. Lesi sakhi sofuzo se-`MECP2` sidlala indima ebaluleke kakhulu ekuthuthukisweni kobuchopho bethu kanye nokushintshana kolwazi phakathi kwamangqamuzana ezinzwa, okungukuthi, ukuxhumana phakathi kwamangqamuzana ezinzwa (i-synapse) . Ngakho-ke, uma kukhona ushintsho kulesi sakhi sofuzo, kuthinta ukuthuthukiswa kobuchopho bengane.

Kulesi simo, izinyanga zokuqala ezimbalwa zokuphila kwengane, ngokuvamile kuze kube yizinyanga ezi-6, zikhula njengezinye izingane. Zenza izinto ezifanele iminyaka yazo, njengokukhasa, ukumamatheka, nokunyakaza kwamalungu azo. Kodwa-ke, ngemva kwezinyanga ezi-6, ingane iqala ukulahlekelwa amakhono namakhono eyayiwafunde ngaphambilini. Isibonelo, ikhono lokubamba ithoyizi ngezandla zombili, ukuphakamisela unina isandla, nokusho amagama liyancipha. Lezi zimpawu zivela ezigabeni ezahlukene njengoba ingane ikhula. Kodwa-ke, into eyodwa okufanele uyikhumbule ukuthi nakuba lezi zimpawu ziyeka ukuqhubeka ngokuhamba kwesikhathi, azinyamalali ngokuphelele. Ngakho-ke, lezi zingane zidinga ukunakekelwa okukhethekile nokusekelwa kukho konke ukuphila kwazo.

Ziyini izimpawu ze-Rett Syndrome?

Njengoba kushiwo ngaphambili, ingane ingakhula ngokujwayelekile ize ibe nezinyanga ezi-6 ubudala. Izimpawu zokuqala ze- Rett Syndrome ukubambezeleka kokukhula . Lokhu kusho ukuthi ingane yephuza ukwenza izinto ezifanele iminyaka yayo, isibonelo, ukungakhahleli lapho ezinye izingane zikhahlela, ziphakamisa izingalo zazo, noma ziqala ukukhuluma.

Njengoba ingane ikhula, izimpawu zokubuyela emuva kokukhula, lapho lokho okufundiwe kulahleka khona futhi, zibonakala ngokucacile.

Izimpawu ezithinta imisipha yengane, ukunyakaza kwayo, kanye nokuziphatha kwayo:

• Izinkinga ngokulinganisela kanye nokuxhumana kahle ngesikhathi uhamba: Ubunzima bokuma nokuhamba. Kungase kuwa njalo.
• Ubunzima bokukhuluma:Kuba nzima ukusho amagama nokuveza imibono. Ezinye izingane zingase zilahlekelwe ngisho nekhono lokukhuluma ngokuphelele.
• Ubunzima bokugwinya noma ukuhlafuna ukudla: Lokhu kungaholela ekutheni ingane ingatholi ukudla okunomsoco okudingekayo, yehlise isisindo, futhi ingondlekile .
• Ubuthakathaka noma ukuqina kwemisipha (ukuqaqamba): ukungakwazi ukulawula izitho ngendlela efanele.
• Ubunzima bokwenza ukunyakaza okujwayelekile ngokuyalwa (i-apraxia): Isibonelo, ukungakwazi ukwenza kanjalo uma utshelwa ukuthi "uphakamise isandla sakho," kodwa ngezinye izikhathi ukwazi ukuphakamise isandla sakho umi ndawonye.
• Ukunyakaza kwezandla okuphindaphindiwe: Ukunyakaza kwezandla okuphindaphindiwe njengokucindezela, ukucindezela, nokushaya izandla kuyisici esibalulekile salesi sifo.

Ezinye izimpawu:

• Izinkinga zokulala: Ukungalali kahle ebusuku, ukuvuka njalo.
• Izinkinga zesistimu yokugaya ukudla: izinto ezifana ne-reflux kanye nokuqunjelwa .
• Ukukhubazeka kwengqondo: Amakhono okufunda angase anciphe.
• Ukungahlaliseki njalo kanye nokucasuka.
• I-Scoliosis: Umgogodla ugoba ohlangothini.
• Ukukhula kancane: Izinto ezifana nokuphakama kanye nokwanda kwesisindo zingase zihambe kancane kunezinye izingane.

Izimpawu ezingasongela impilo ngezinye izikhathi zifaka:

• Ubunzima bokuphefumula: Ukuphefumula okungajwayelekile, ukubamba umoya, njll.
• Ukuphazamiseka kwenhliziyo.
• Ukuquleka.

Ingabe izingane ezine-Rett Syndrome zinezici ezikhethekile zobuso?

Izingane ezine -Rett Syndrome zingase zibe nekhanda elincane uma liqhathaniswa nezinye izingxenye zomzimba wazo. Lokhu kubizwa ngokuthi i-microcephaly . Lokhu kungabangela ukuthi izici zobuso zibonakale kancane. Kodwa-ke, azikho izici zobuso ezithile ezihlukile kulesi sifo, njengokuthi "yilokhu ubuso obubukeka ngakho."

Ngezinye izikhathi izimpawu ze -Rett Syndrome zingafana nezesinye isimo esibizwa ngokuthi i-Angelman Syndrome . Zombili lezi zimo zinezinto ezifanayo, njengobunzima bokukhuluma nokuxhumana, ukubambezeleka kokukhula, ukuxhuzula, nezinkinga zokulala. Kodwa-ke, i-Angelman Syndrome inezici ezithile zobuso, njengamehlo ajulile, umlomo obanzi, kanye nezikhala ezinkulu phakathi kwamazinyo. I-Rett Syndrome ayinazo lezi zici ezithile zobuso.

Izigaba ze-Rett Syndrome

Lesi simo sidlula ezigabeni ezahlukene njengoba ingane ikhula. Esigabeni ngasinye, ingane ingase ibonise izimpawu ezahlukene. Kodwa-ke, akuzona zonke izingane ezidlula kuzo zonke lezi zigaba ngendlela efanayo. Isibonelo, ezinye izingane ezine-Rett Syndrome zingase zingabe zisakwazi ukuhamba.

Izigaba ze-Rett Syndrome:

1. Isigaba I - Isigaba sokuqala: Lokhu kuqala phakathi kwezinyanga eziyi-6 neziyi-18 ubudala. Ukukhula kwengane kuyehla. Isibonelo, ukukhasa kuyabambezeleka, futhi ikhono lokubheka umama ngqo liyancishiswa. Imisipha yengane iba buthakathaka ( ithoni yemisipha ephansi ), futhi kungase kube nobunzima bokudla.

2. Isigaba II - Isigaba esithuthuka ngokushesha: Lokhu kuvame ukwenzeka phakathi kweminyaka eyi-1 neyi-4. Ingane ingase ilahlekelwe ikhono lokukhuluma nokusebenzisa izandla zayo. Ingase ibambe izibhakela zayo njalo. Ezinye izingane zingase zibonise nokuziphatha okufana nokwezingane ezine- Autism Spectrum Disorder, njengokulahlekelwa isithakazelo ekuxhumaneni nabantu.

3. Isigaba III - I-Plateau noma isigaba esizinzile sesikhashana: Lokhu kuvame ukwenzeka phakathi kweminyaka emi-2 neyi-10. Ezinye zezimpawu ezazinzima esigabeni sesibili, isibonelo, amakhono okuxhumana kanye namakhono okunyakaza komzimba, zingathuthuka kancane. Zingase zibonise intshisekelo yokuba nobudlelwano nabantu futhi. Ukuquleka kuvamile phakathi nalesi sikhathi.

4. Isigaba IV - Ukwehla kwemisipha kamuva: Lokhu kungenzeka nganoma yisiphi isikhathi ngemva kweSigaba III. Ingane ingase ilahlekelwe ikhono lokuhamba kanye namandla emisipha. Kodwa-ke, amakhono okuxhumana nokucabanga engane kufanele aqhubeke ekhona phakathi nalesi sigaba.

Yiziphi izimbangela ze-Rett Syndrome?

I-Rett Syndrome ivame ukubangelwa uhlobo oluthile lwezakhi zofuzo ku-gene ebizwa ngokuthi `MECP2`. Njengoba ngishilo ngaphambili, le gene iyala ukukhiqizwa kweprotheni ebizwa ngokuthi `MECP2`. Le phrotheni isiza ukugcina ukuxhumana (ama-synapses) phakathi kwamangqamuzana ezinzwa futhi isiza ubuchopho bengane ukuthi busebenze kahle.

Kodwa-ke, akuzona zonke izimo ze-Rett Syndrome ezixhunyaniswe ne-MECP2 gene. Ezinye izinhlobo zezakhi zofuzo (isibonelo, ukususwa) noma izinhlobo kwezinye izakhi zofuzo, njenge-CDJK5 kanye ne-FOXG1, nazo zingabangela izimo ze-Rett Syndrome ezingavamile. Ngezinye izikhathi, lezi zimpawu zingabangelwa izakhi zofuzo ezingakatholakali.

Into ebalulekile ukuthi lolu shintsho lwezakhi zofuzo luvame ukwenzeka ngokuzenzakalelayo/ngokungahleliwe . Okusho ukuthi, ngokuvamile aluzuzwa njengefa kubazali kubantwana. Ngakho akudingeki uzizwe unecala kakhulu ngakho.

Ingabe abafana bathola i-Rett Syndrome?

I-Rett Syndrome ivame ukuthinta amantombazane kuphela. Lokhu kungenxa yokuthi ushintsho lwezakhi zofuzo olubangela lokhu lwenzeka ku-chromosome X. Njengoba wazi, owesifazane unama-chromosome amabili e-X (XX).

Ngenxa yokuthi abafana bane-chromosome eyodwa engu-X kanye ne-chromosome eyodwa engu-Y (XY), lesi simo asivamile kakhulu. Uma umfana enalolu hlobo lwe-chromosome yakhe engu-X kuphela, izimpawu zingaba zimbi kakhulu. Lokhu kungaholela ekuphuphumeni kwesisu noma ngisho nasekufeni ngesikhathi sokuzalwa.

Odokotela babiza lesi simo kubafana ngokuthi "i-MECP2-related severe neonatal encephalopathy." Lesi simo singabonisa nezimpawu ezifana ne-Rett syndrome, njengokukhubazeka kwengqondo, ukuxhuzula, kanye nobunzima bokunyakaza.

Izinkinga ze-Rett Syndrome

Ingane enalesi simo isengozini yokuthola lezi zinkinga ezilandelayo, ezinye zazo ezingasongela impilo:

• I-Aspiration pneumonia: Isimo se-pneumonia esibangelwa ukudla noma isiphuzo okungena emaphashini.
• Isithuthwane: Ukuquleka okuvamile.
• Ukungasebenzi kahle kwenhliziyo: Isibonelo, izimo ezifana ne -Long QT syndrome .
• Izinkinga zamaphaphu noma zokuphefumula.

Odokotela bayixilonga kanjani i-Rett Syndrome?

Udokotela uxilonga i-Rett Syndrome ngokuhlola ingane nokwenza izivivinyo ezidingekayo. Njengomama, ungase usole ukuthi kukhona okungahambi kahle lapho ingane yakho ingahlangabezani nezigaba zokukhula zobudala bayo, ikakhulukazi ngonyaka wokuqala. Yilapho-ke okufanele uyise ingane yakho kudokotela wezingane noma kudokotela womndeni wakho.

Udokotela wakho uzohlola ingane yakho futhi abheke izimpawu. Ngemuva kwalokho, bazokwenza izivivinyo ukuze bakhiphe ezinye izimo ezingase zibe nezimpawu ezifanayo. Ezimweni eziningi, lesi simo singaqinisekiswa ngokuhlolwa kwegazi okufuzekile okubheka ushintsho ku-MECP2 gene. Lokhu kuhlolwa kofuzo akudingi ukulungiswa okukhethekile noma ukuhlala esibhedlela.

Ukuxilongwa kuvame ukwenziwa phakathi kweminyaka eyi-6 neyi-18, njengoba kulapho izimpawu ziqala khona.

Ngenxa yokuthi i-Rett Syndrome iyisimo esingavamile, ngezinye izikhathi kungaba nzima ukuthola ukuxilongwa ngokushesha. Kungathatha isikhathi ukuthi ithimba lezokwelapha likhiphe zonke ezinye izimo futhi liqinisekise ukuthi lokhu kunjalo. Kungaba yinto ekhungathekisayo ukulinda izimpendulo, kodwa ukuthola ukuxilongwa okucacile kungasiza ithimba lezokwelapha ukwelapha izimpawu zengane yakho.

Iphathwa kanjani i-Rett Syndrome?

Izinketho zokwelapha zincike ezimpawini ezithile zengane. Isibonelo, imithi inganikezwa yokuquleka kanye nokuphazamiseka kokunyakaza. Uma ingane inezinkinga ngamakhono okunyakaza kanye nekhono lolimi, udokotela angase ancome ukwelashwa okufana nalokhu:

• Ukwelashwa Komsebenzi: Kusiza ngemisebenzi yansuku zonke futhi kuthuthukisa ukusebenza kwesandla.
• Ukwelashwa ngokomzimba: Kusiza ngezinto ezifana nokuhamba, ukulinganisela, nokuqinisa imisipha.
• Ukwelapha ngenkulumo: Kusiza ekuthuthukiseni ukukhuluma nokuxhumana.

Ezinganeni ezineminyaka engu-2 nangaphezulu, umuthi obizwa ngokuthi i-Trofinetide ubonise imiphumela ethembisayo ezivivinyweni zemitholampilo . Uwumuthi wokuqala ovunyelwe yi -U.S. Food and Drug Administration (FDA) ngqo kwi -Rett Syndrome . Akuyona ikhambi, kodwa kubhekwa njengomuthi oguqula izifo. Kufanele nixoxe ngale ndlela nethimba lakho lezokwelapha futhi nenze isinqumo ndawonye.

Ngaphezu kwalokho, ingane yakho ingazuza ku:

• Ukugqoka i-brace noma ukuhlinzwa kwe -scoliosis .
• Ukuhlolwa njalo kwezinkinga zenhliziyo.
• Ukusekelwa kokudla okunempilo.
• Izinhlelo zemfundo ekhethekile esikoleni.

Okwamanje akukho ukwelashwa kwe -Rett Syndrome . Kodwa-ke, odokotela bengane yakho bangasiza ekulawuleni izimpawu kukho konke ukuphila kwayo.

Kufanele ngiyise nini ingane yami kudokotela?

Uma ubona ukuthi ingane yakho ayihlangabezani nezigaba zokukhula ezifanele iminyaka yayo, ikakhulukazi ngemva kwezinyanga eziyisithupha, bheka udokotela ngokushesha.

Uma ingane yakho itholakale ine- Rett Syndrome , uma inemiphumela emibi evela ekwelashweni, noma uma iba nezimpawu ezintsha noma uma izimpawu ezikhona ziba zimbi kakhulu, yazisa udokotela wakho.

Ingakanani iminyaka yokuphila kwengane ene-Rett Syndrome?

Abantu abaningi abane -Rett Syndrome baphila impilo enhle baze bafinyelele eminyakeni engama-40 nangaphezulu. Uma izimpawu zingembi kakhulu, ingane yakho ingase iphile impilo evamile. Kodwa-ke, uma kuvela izinkinga zempilo, isikhathi sokuphila singancishiswa.

Umuntu ongcono kakhulu ongambuza ngobude besikhathi sokuphila kwengane yakho ngudokotela wakhe. Angasiqonda isimo esithile sengane yakho futhi akuchazele sona.

Ukubikezela i-Rett Syndrome

I-Rett Syndrome iyisimo esihlala isikhathi eside. Izimpawu zithinta umuntu ngamunye ngendlela ehlukile. Ingane yakho ingase ikwazi ukulawula ukunyakaza kwayo, ukuhamba, nokukhuluma yodwa. Kodwa-ke, izodinga ukunakekelwa ubusuku nemini impilo yayo yonke.

Futhi, ingane yakho kuzodingeka ibe nemihlangano njalo nethimba layo lezokwelapha ukuze iphathe kahle izimpawu futhi ivimbele izinkinga. Kwezinye izimo ze-Rett Syndrome, izinkinga zingaholela ekufeni kusenesikhathi.

Ukuthola ukuthi ingane yakho inesifo sezinzwa esingavamile kungaba yinto enzima kakhulu. Ungase uzizwe ukhathazekile futhi udabuke ngokuthi ingane yakho ayikhuli njengabanye abantwana. Nakuba umzimba wengane yakho uzodinga isikhathi esengeziwe nokunakekelwa njengoba ikhula, ungalilahli ithemba. Odokotela bazoba nawe kuzo zonke izinyathelo ukuze banikeze ingane yakho ukunakekelwa ekudingayo.

Abacwaningi bathola izindlela ezintsha zokwelapha ezingasiza izingane ezine-Rett Syndrome ngokusebenzisa izivivinyo zemitholampilo . Uma unemibuzo mayelana nombono noma ukwelashwa kwengane yakho, buza udokotela wakho.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho ine -Rett Syndrome . Kodwa khumbula lezi zinto:

• Awuwedwa: Kukhona abanye abazali ababhekene nezimo ezifanayo. Odokotela, abelaphi, namaqembu okusekelana bakulungele ukukusiza.
• Ukutholwa kusenesikhathi kubalulekile: Uma ubona ukubambezeleka ekukhuleni kwengane yakho, funa iseluleko sezokwelapha ngokushesha.
• Ukwelashwa kungalawula izimpawu: Nakuba kungekho ukwelashwa okuphelele, ukwelashwa kanye nokwelashwa kungathuthukisa ikhwalithi yokuphila kwengane.
• Ingane ngayinye ihlukile: Izimpawu kanye nomthelela wesifo kuyahlukahluka kumuntu nomuntu. Odokotela bazokusiza ukuthi wakhe uhlelo lokunakekela olufanele ingane yakho.
• Hlala unethemba: Isayensi yezokwelapha iyathuthuka futhi kwenziwa ucwaningo olusha, ngakho-ke kubalulekile ukuhlala unethemba.

Into ebaluleke kakhulu ukunikeza ingane yakho uthando, ukunakekelwa, kanye nokunakekelwa okufanele kwezokwelapha.

I- Rett Syndrome, izifo zofuzo, izifo zezinzwa, intuthuko yengane, i-MECP2 gene, ukubambezeleka kwentuthuko