Ngaba intombi yakho ineengxaki zokukhula? Ngaba singathetha ngeRett Syndrome?

Umntwana wakho omncinci, ingakumbi intombazana, usenokuba uqaphele ukulibaziseka kokukhula okanye ubunzima bokwenza izinto awayezenza ngaphambili. Khawuthelekelele, umntwana owayeqhuba kakuhle kangangeenyanga ezintandathu ngequbuliso uyeka ukufunda izinto ezintsha aze alibale nezinto awayezifundile ngaphambili. Kuqhelekile ukuba umama okanye utata azive esoyika kwaye exhalabile xa ebona into efana nale. Namhlanje siza kuthetha ngemeko engaqhelekanga kakhulu, kodwa ebalulekileyo ukuyazi, echaphazela kakhulu amantombazana. Le yinto esiyibiza ngokuba yiRett Syndrome .

Yintoni iRett Syndrome? Ngamafutshane...

Ngamafutshane, iRett Syndrome yimeko engaqhelekanga yemfuza kunye neyengqondo . Ichaphazela kakhulu amantombazana. Ibangelwa lutshintsho lwemfuza kwijini emzimbeni wethu, ngakumbi ijini ebizwa ngokuba yi-'MECP2'. Le jini ye-'MECP2' idlala indima ebaluleke kakhulu ekuphuhlisweni kwengqondo yethu kunye nokutshintshiselana ngolwazi phakathi kweeseli zemithambo-luvo, oko kukuthi, unxibelelwano phakathi kweeseli zemithambo-luvo (synapse) . Ngoko ke, xa kukho utshintsho kule jini, luchaphazela uphuhliso lwengqondo yomntwana.

Kule meko, iinyanga zokuqala zobomi bomntwana, ngokuqhelekileyo ukuya kuthi ga kwiinyanga ezi-6, zikhula njengabanye abantwana. Benza izinto ezifanelekileyo kwiminyaka yabo, njengokukhasa, ukuncuma, kunye nokuhambisa amalungu abo. Nangona kunjalo, emva kweenyanga ezi-6, umntwana uqala ukulahlekelwa zizakhono kunye nezakhono awayezifundile ngaphambili. Umzekelo, amandla okubamba ithoyizi ngezandla zombini, ukuphakamisela umama wakhe isandla, kunye nokuthetha amazwi ayancipha. Ezi mpawu zivela kumanqanaba ahlukeneyo njengoko umntwana ekhula. Nangona kunjalo, into enye ekufuneka uyikhumbule kukuba nangona ezi mpawu ziyeka ukuba mandundu (ziqhubeke) ngokuhamba kwexesha, azipheli ngokupheleleyo. Ke ngoko, aba bantwana badinga ukhathalelo olukhethekileyo kunye nenkxaso ebomini babo bonke.

Zithini iimpawu zeRett Syndrome?

Njengoko bekutshiwo ngaphambili, umntwana unokukhula ngokwesiqhelo de abe neenyanga ezi-6 ubudala. Iimpawu zokuqala zeRett Syndrome kukucotha kokukhula . Oku kuthetha ukuba umntwana ufika kade ekwenzeni izinto ezifanelekileyo kwiminyaka yakhe, umzekelo, ukungakhaseli xa abanye abantwana bekhasa, beshukumisa iingalo zabo, okanye beqala ukuthetha.

Njengoko umntwana ekhula, iimpawu zokukhula okudodobalayo, apho oko akufundileyo kulahleka kwakhona, zibonakala ngokucacileyo.

Iimpawu ezichaphazela izihlunu zomntwana, iintshukumo zakhe, kunye nokuziphatha kwakhe:

• Iingxaki zokulinganisela kunye nokulungelelanisa xa uhamba: Ubunzima bokuma nokuhamba. Usenokuwa rhoqo.
• Ubunzima bokuthetha:Kuba nzima ukuthetha amagama nokuveza izimvo. Abanye abantwana banokude balahlekelwe likhono lokuthetha ngokupheleleyo.
• Ubunzima bokuginya okanye ukuhlafuna ukutya: Oku kunokubangela ukuba umntwana angafumani izondlo ezifunekayo, anciphise umzimba, aze angondleki kakuhle .
• Ubuthathaka okanye ukuqina kwemisipha (spasticity): ukungakwazi ukulawula amalungu ngokufanelekileyo.
• Ubunzima bokwenza iintshukumo eziqhelekileyo xa uyalela (i-apraxia): Umzekelo, ukungakwazi ukwenza njalo xa uxelelwa ukuba "uphakamise isandla sakho," kodwa ngamanye amaxesha ukwazi ukushukumisa isandla sakho ngelixa umile.
• Iintshukumo zezandla eziphindaphindwayo: Iintshukumo zezandla eziphindaphindwayo ezifana nokucinezela, ukucinezela, kunye nokuqhwaba izandla zizinto ezibonakala kakhulu kwesi sifo.

Ezinye iimpawu:

• Iingxaki zokulala: Ukungalali kakuhle ebusuku, ukuvuka rhoqo.
• Iingxaki zenkqubo yokugaya ukutya: izinto ezifana nokubila kwesisu kunye nokuqhina .
• Ukukhubazeka kwengqondo: Izakhono zokufunda zinokuncipha.
• Ukungazoli rhoqo kunye nokucaphuka.
• I-Scoliosis: Umqolo ugoba ecaleni.
• Ukukhula kancinci: Izinto ezifana nobude kunye nokunyuka kobunzima zinokuba kancinci kunabanye abantwana.

Iimpawu ezinokuba yingozi ebomini ngamanye amaxesha ziquka:

• Ubunzima bokuphefumla: Ukuphefumla okungaqhelekanga, ukubamba umoya, njl.
• Ukuphazamiseka kwentliziyo.
• Ukuxhuzula.

Ngaba abantwana abaneRett Syndrome baneempawu ezikhethekileyo zobuso?

Abantwana abaneRett Syndrome banokuba nentloko encinci xa kuthelekiswa nomzimba wabo wonke. Oku kubizwa ngokuba yi -microcephaly . Oku kunokubangela ukuba iimpawu zobuso zibonakale kancinci. Nangona kunjalo, akukho zimpawu zobuso ezithile ezikhethekileyo kwesi sifo, ezinje ngokuthi "yile ndlela ubuso obubukeka ngayo."

Ngamanye amaxesha iimpawu zeRett Syndrome zinokufana nezo zesinye isifo esibizwa ngokuba yiAngelman Syndrome . Zombini ezi meko zinezinto ezifanayo, ezinje ngobunzima bokuthetha nokunxibelelana, ukulibaziseka kokukhula, ukuxhuzula, kunye neengxaki zokulala. Nangona kunjalo, iAngelman Syndrome ineempawu ezithile zobuso, ezinje ngamehlo anzulu, umlomo obanzi, kunye nezikhewu ezinkulu phakathi kwamazinyo. IRett Syndrome ayinazo ezi mpawu zobuso.

Amanqanaba eRett Syndrome

Le meko idlula kumanqanaba ahlukeneyo njengoko umntwana ekhula. Kwinqanaba ngalinye, umntwana unokubonisa iimpawu ezahlukeneyo. Nangona kunjalo, ayingabo bonke abantwana abadlula kuzo zonke ezi zigaba ngendlela efanayo. Umzekelo, abanye abantwana abaneRett Syndrome basenokungakwazi ukuhamba.

Amanqanaba eRett Syndrome:

1. Inqanaba loku-1 - Inqanaba lokuqala kwangethuba: Oku kuqala phakathi kweenyanga ezi-6 nezili-18 ubudala. Ukukhula komntwana kuyehla. Umzekelo, ukukhasa kuyalibaziseka, kwaye amandla okujonga ngqo kumama ayancipha. Izihlunu zomntwana ziya ziqina kancinci ( ithoni yemisipha ephantsi ), kwaye ubunzima bokutya bunokubakho.

2. Inqanaba lesiBini - Inqanaba elikhula ngokukhawuleza: Oku kwenzeka phakathi kweminyaka eli-1 neli-4 ubudala. Umntwana usenokulahlekelwa yikhono lokuthetha nokusebenzisa izandla zakhe. Basenokuqinisa amanqindi abo rhoqo. Abanye abantwana banokubonakalisa isimilo esifana nesabantwana abane- Autism Spectrum Disorder, njengokulahlekelwa ngumdla kunxibelelwano lwentlalo.

3. Inqanaba lesi-3 - Inqanaba elizinzileyo okanye elizinzileyo lexeshana: Oku kudla ngokuvela phakathi kweminyaka emi-2 neli-10 ubudala. Ezinye zeempawu ezazinzima kwisigaba sesibini, umzekelo, izakhono zonxibelelwano kunye nezakhono zokunyakaza, zinokuphucuka kancinci. Banokubonisa umdla wokuba nobuhlobo kwakhona. Ukuxhuzula kuqhelekile ngeli xesha.

4. Inqanaba lesi-4 - Ukwehla kwemisipha kamva: Oku kunokwenzeka nangaliphi na ixesha emva kwenqanaba lesi-3. Umntwana usenokulahlekelwa kukwazi ukuhamba kunye namandla emisipha. Nangona kunjalo, izakhono zonxibelelwano kunye nokucinga zomntwana kufuneka ziqhubeke zikhona kweli nqanaba.

Zithini izizathu zeRett Syndrome?

I-Rett Syndrome idla ngokubangelwa lutshintsho lwemfuza kwi-gene ebizwa ngokuba yi-`MECP2`. Njengoko benditshilo ngaphambili, le gene iyalela ukuveliswa kweproteni ebizwa ngokuba yi-`MECP2`. Le proteni inceda ukugcina unxibelelwano (ii-synapses) phakathi kweeseli zemithambo-luvo kwaye inceda ingqondo yomntwana isebenze kakuhle.

Nangona kunjalo, ayizizo zonke iimeko zeRett Syndrome ezinxulunyaniswa nejini yeMECP2. Ezinye iintlobo zemfuza (umzekelo, ukususwa) okanye ezinye iintlobo zemfuza, ezifana neCDJK5 kunye neFOXG1, nazo zinokubangela iimeko zeRett Syndrome ezingaqhelekanga. Ngamanye amaxesha, ezi mpawu zinokubangelwa zizifo zemfuza ezingakafunyaniswa.

Into ebalulekileyo kukuba olu tshintsho lwemfuza ludla ngokwenzeka ngokungacwangciswanga/ngokungacwangciswanga . Oko kukuthi, aluqhelekanga ukuba lufuzwe kubazali ukuya ebantwaneni. Ngoko ke akufuneki uzive unetyala kakhulu ngalo.

Ngaba abafana banesifo seRett Syndrome?

I-Rett Syndrome idla ngokuchaphazela amantombazana kuphela. Oku kungenxa yokuba utshintsho lwemfuza olubangela ukuba kwenzeke kwi-chromosome X. Njengoko usazi, ibhinqa line-chromosomes ezimbini ze-X (XX).

Ngenxa yokuba abafana bane-chromosome enye ye-X kunye ne-chromosome enye ye-Y (XY), le meko ayiqhelekanga. Ukuba inkwenkwe inesi sixhobo kwi-chromosome yayo ye-X kuphela, iimpawu zinokuba nzima kakhulu. Oku kunokukhokelela ekuphunyelweni yisisu okanye ekufeni ngexesha lokuzalwa.

Oogqirha babiza le meko kubafana ngokuthi "yi-MECP2-related severe neonatal encephalopathy." Le meko inokubonisa iimpawu ezifana neze-Rett syndrome, ezinje ngokukhubazeka kwengqondo, ukuxhuzula, kunye nobunzima bokuhamba.

Iingxaki zeRett Syndrome

Umntwana onesi sifo usengozini yokufumana ezi ngxaki zilandelayo, ezinye zazo ezinokuba yingozi ebomini:

• I-Aspiration pneumonia: Imeko ye-pneumonia ebangelwa kukutya okanye isiselo esingena emiphungeni.
• Isifo sokuwa: Ukuwa rhoqo.
• Ukungasebenzi kakuhle kwentliziyo: Umzekelo, iimeko ezifana ne -Long QT syndrome .
• Iingxaki zemiphunga okanye zokuphefumla.

Oogqirha bayixilonga njani iRett Syndrome?

Ugqirha uxilonga iRett Syndrome ngokuhlola umntwana aze enze uvavanyo olufunekayo. Njengomama, unokukrokrela ukuba kukho into engalunganga xa umntwana wakho engafikeleli kwinqanaba lokukhula ngokobudala bakhe, ingakumbi kunyaka wokuqala. Kulapho ke kufuneka umse umntwana wakho kugqirha wabantwana okanye kugqirha wosapho lwakho.

Ugqirha wakho uza kumhlola umntwana wakho aze akhangele iimpawu. Emva koko, baza kwenza uvavanyo lokuthintela ezinye iimeko ezinokuba neempawu ezifanayo. Kwiimeko ezininzi, imeko inokuqinisekiswa ngovavanyo lwegazi oluvela kwimfuza olujonga utshintsho kwimfuza ye-MECP2. Olu vavanyo lwemfuza alufuni naluphi na ulungiselelo olukhethekileyo okanye ukuhlala esibhedlele.

Ukuxilongwa kudla ngokwenziwa phakathi kweenyanga ezi-6 nezi-18 ubudala, njengoko kulapho iimpawu ziqala khona.

Ngenxa yokuba iRett Syndrome yimeko engaqhelekanga, ngamanye amaxesha kunokuba nzima ukufumana uxilongo ngoko nangoko. Kungathatha ixesha ukuba iqela lezonyango likhuphe zonke ezinye iimeko kwaye liqinisekise ukuba kunjalo. Kunokuba yinto ecaphukisayo ukulinda iimpendulo, kodwa ukuba noxilongo olucacileyo kunokunceda iqela lezonyango ukunyanga iimpawu zomntwana wakho.

Inyangwa njani iRett Syndrome?

Iindlela zonyango zixhomekeke kwiimpawu ezithile zomntwana. Umzekelo, amayeza anokunikwa xa umntwana exhuzula okanye enengxaki yokuhambahamba. Ukuba umntwana uneengxaki ngezakhono zokunyakaza komzimba kunye nobuchule bokuthetha, ugqirha angacebisa unyango olufana nolu:

• Unyango lomsebenzi: Lunceda kwimisebenzi yemihla ngemihla kwaye luphucula ukusebenza kwesandla.
• Unyango lomzimba: Lunceda ngezinto ezifana nokuhamba, ukulinganisela, kunye nokuqinisa izihlunu.
• Unyango lokuthetha: Lunceda ukuphucula ukuthetha nokunxibelelana.

Kubantwana abaneminyaka emi-2 nangaphezulu, iyeza elibizwa ngokuba yiTrofinetide libonise iziphumo ezithembisayo kwiimvavanyo zeklinikhi . Lunyango lokuqala oluvunyiweyo yi -U.S. Food and Drug Administration (FDA) ngokukodwa kwi -Rett Syndrome . Aliyonyango, kodwa lithathwa njengonyango oluguqula isifo. Kufuneka nixoxe ngolu khetho neqela lakho lezonyango nize nenze isigqibo kunye.

Ukongeza, umntwana wakho angazuza kwezi zinto zilandelayo:

• Ukunxiba i-brace okanye ukwenza utyando lwe -scoliosis .
• Ukuhlolwa rhoqo ukuze kubonwe iingxaki zentliziyo.
• Inkxaso yesondlo.
• Iinkqubo zemfundo ekhethekileyo esikolweni.

Okwangoku akukho nyango lweRett Syndrome . Nangona kunjalo, oogqirha bomntwana wakho banokunceda ukulawula iimpawu ebomini bakhe bonke.

Ndifanele ndimse nini umntwana wam kugqirha?

Ukuba uqaphela ukuba umntwana wakho akafikeleli kwimigangatho yokukhula efanelekileyo ngokweminyaka yakhe, ingakumbi emva kweenyanga ezi-6, bonana nogqirha ngoko nangoko.

Ukuba umntwana wakho ufunyaniswe eneRett Syndrome , ukuba uneziphumo ebezingalindelekanga ezivela kunyango, okanye ukuba ubonakalisa iimpawu ezintsha okanye ukuba iimpawu ezikhoyo ziya zisiba mandundu, yazisa ugqirha wakho.

Ingakanani iminyaka yobomi bomntwana one-Rett Syndrome?

Abantu abaninzi abaneRett Syndrome baphila ubomi obumnandi bade bafikelele kwiminyaka engama-40 nangaphezulu. Ukuba iimpawu azikho mbi kakhulu, umntwana wakho unokuba nobomi obuqhelekileyo. Nangona kunjalo, ukuba kuvela iingxaki zempilo, ixesha lokuphila linokuncipha.

Umntu ofanelekileyo onokumbuza malunga neminyaka yobomi bomntwana wakho ngugqirha wakhe. Uyakwazi ukuqonda imeko ethile yomntwana wakho aze akuchazele yona.

Ukubikezela iRett Syndrome

I-Rett Syndrome yimeko yobomi bonke. Iimpawu zichaphazela umntu ngamnye ngokwahlukileyo. Umntwana wakho unokukwazi ukulawula iintshukumo zakhe, ukuhamba, kunye nokunxibelelana yedwa. Nangona kunjalo, uya kufuna ukhathalelo oluhlala ixesha elide ubomi bakhe bonke.

Kwakhona, umntwana wakho kuya kufuneka abe nentlanganiso rhoqo neqela lakhe lezonyango ukuze alawule ngokufanelekileyo iimpawu aze athintele iingxaki. Kwezinye iimeko zeRett Syndrome, iingxaki zinokukhokelela ekufeni kwangethuba.

Ukufumanisa ukuba umntwana wakho unesifo semithambo-luvo esingaqhelekanga kunokuba nzima kakhulu. Ungaziva uxhalabile kwaye ulusizi kuba umntwana wakho akakhuli njengabanye abantwana. Nangona umzimba womntwana wakho uza kufuna ixesha elingakumbi kunye nokhathalelo njengoko ekhula, ungalahli ithemba. Oogqirha baya kuba nawe kuyo yonke inyathelo lokubonelela umntwana wakho ngononophelo aludingayo.

Abaphandi bafumana unyango olutsha olunokunceda abantwana abaneRett Syndrome ngokusebenzisa iimvavanyo zeklinikhi . Ukuba unemibuzo malunga nembono okanye unyango lomntwana wakho, buza ugqirha wakho.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuba uzive uxinezelekile xa ufumanisa ukuba umntwana wakho uneRett Syndrome . Kodwa khumbula ezi zinto:

• Awuwedwa: Kukho abanye abazali abajongene neemeko ezifanayo. Oogqirha, iingcali zonyango, kunye namaqela enkxaso akulungele ukukunceda.
• Ukuchonga umntwana wakho kwangethuba kubalulekile: Ukuba ubona ukulibaziseka ekukhuleni kwakhe, funa ingcebiso kagqirha ngoko nangoko.
• Unyango lunokulawula iimpawu: Nangona kungekho nyango lupheleleyo, unyango kunye nonyango lunokuphucula umgangatho wobomi bomntwana.
• Wonke umntwana wahlukile: Iimpawu kunye nefuthe lesi sifo ziyahluka kumntu nomntu. Oogqirha baya kukunceda uphuhlise isicwangciso sokhathalelo esifanelekileyo kumntwana wakho.
• Hlala unethemba: Isayensi yezonyango iqhubela phambili kwaye uphando olutsha luyaqhubeka, ngoko ke kubalulekile ukuhlala unethemba.

Eyona nto ibalulekileyo kukunika umntwana wakho uthando, inkathalo, kunye nonyango olufanelekileyo.

Isifo sikaRett , izifo zemfuza, izifo zemithambo-luvo, uphuhliso lomntwana, i-MECP2 gene, ukulibaziseka kophuhliso