Isifo serett

I-Rett syndrome (i-RTT) kukuphazamiseka kwenkqubo yemithambo-luvo. Le meko ikhokelela kwiingxaki zophuhliso ebantwaneni. Ichaphazela ikakhulu izakhono zolwimi kunye nokusetyenziswa kwesandla.

I-RTT yenzeka phantse kuwo onke amantombazana. Inokuthi ifumaneke njenge-autism okanye i-cerebral palsy.

Uninzi lwamatyala e-RTT ngenxa yengxaki kuhlobo olubizwa ngokuba yi-MECP2. Olu luhlobo lukwi-X chromosome. Abafazi bane-2 X ii-chromosomes. Nokuba enye i-chromosome inesiphene, enye i-chromosome eyi-X iqhelekile ukuze umntwana aphile.

Amadoda azalwe enale geni inesiphene ayinayo i-X yesibini i-chromosome yokwenza le ngxaki. Ke ngoko, isiphene sihlala sikhokelela ekuphumleni komzimba, ekuzalweni kwentsana, okanye ekufeni kwasekuqaleni.

Imveku ene-RTT ihlala ikhula ngesiqhelo kwiinyanga ezintandathu ukuya kwezili-18 zokuqala. Iimpawu ziqala ukusuka kubumnene ukuya kubunzima.

Iimpawu zingabandakanya:

• Iingxaki zokuphefumla, ezinokuya zisiba mandundu ngoxinzelelo. Ukuphefumla kuhlala kuyinto eqhelekileyo ngexesha lokulala kunye nokungaqhelekanga ngelixa uvukile.
• Guqula kuphuhliso.
• Amathe agqithisileyo kunye nokuwisa amathe.
• Iingalo nemilenze yefloppy, esisoloko siba ngumqondiso wokuqala.
• Ukukhubazeka kwengqondo kunye nobunzima bokufunda.
• Scoliosis.
• Ukungcangcazela, ukungazinzi, ukuqina okuqinileyo okanye ukuhamba ngeenzwane.
• Ukuxhuzula.
• Ukunciphisa ukukhula kwentloko ukuqala kwiinyanga ezi-5 ukuya kwezi-6 ubudala.
• Ukuphulukana neepateni zokulala eziqhelekileyo.
• Ukuphulukana nokuhamba kwesandla okunenjongo: Umzekelo, ukubamba okusetyenziselwe ukuthabatha izinto ezincinci kuthathelwa indawo kukuphinda-phinda ukunyakaza kwesandla njengokuncipha kwesandla okanye ukubeka izandla rhoqo emlonyeni.
• Ukuphulukana nokuzibandakanya ekuhlaleni.
• Okuqhubekayo, ukuqhina okunzima kunye ne-gastroesophageal reflux (GERD).
• Ukujikeleza okungalunganga okungakhokelela ekubandeni nasekuluhlaza iingalo kunye nemilenze.
• Iingxaki ezinzima zophuhliso lolwimi.

QAPHELA: Iingxaki ngeepateni zokuphefumla isenokuba lolona phawu lucaphukisayo nolunzima kubazali ukuba babukele. Kutheni zisenzeka kwaye kwenzekani ngazo akuqondwa kakuhle. Uninzi lweengcali zicebisa ukuba abazali bahlale bezolile ngesiqendu sokuphefumla ngokungaqhelekanga njengokubamba umphefumlo. Kunokukunceda ukuzikhumbuza ukuba ukuphefumla kwesiqhelo kuhlala kubuya kwaye umntwana wakho uza kusetyenziswa kwindlela yokuphefumla engaqhelekanga.

Uvavanyo lwemfuzo lunokwenziwa ukujonga isiphako semfuza. Kodwa, kuba isiphene asichongiwe kuye wonke umntu onesifo, ukufunyaniswa kwe-RTT kusekwe kwiimpawu.

Kukho iintlobo ezahlukeneyo ze-RTT:

• Yodidi
• Yodidi (ihlangabezana neenqobo zokuqonda)
• Okwangoku (ezinye iimpawu zivela phakathi kweminyaka 1 no-3 ubudala)

I-RTT ihlelwa njenge-atypical ukuba:

• Iqala kwangoko (kwakamsinya emva kokuzalwa) okanye emva kwexesha (ngaphaya kweenyanga ezili-18 ubudala, ngamanye amaxesha emva kweminyaka emi-3 okanye emi-4 ubudala)
• Iingxaki zentetho nezakhono zesandla ziphantsi
• Ukuba ibonakala enkwenkwezini (inqabile kakhulu)

Unyango lunokubandakanya:

• Uncedo lokondla kunye nokweyila
• Iindlela zokunyanga ukuqhina kunye ne-GERD
• Unyango lomzimba ukunceda ukuthintela iingxaki zezandla
• Ukuthwala ubunzima kunye ne-scoliosis

Ukutya okongeziweyo kunokunceda ekukhuleni okucothayo. Umbhobho wokondla unokufuneka ukuba umntwana uphefumla (aspirates) ukutya. Ukutya okuphezulu kwiikhalori kunye namafutha adityaniswe neetyhubhu zokondla kunokunceda ukwandisa ubunzima kunye nokuphakama. Ukutyeba kungaphucula ukuphapha kunye nokunxibelelana kwezentlalo.

Amayeza anokusetyenziselwa ukunyanga ukuxhuzula. Izongezo zinokuzama ukuqhina, ukuphapha, okanye izihlunu eziqinileyo.

Unyango lwesitem esisiqu, sodwa okanye ngokudibeneyo nonyango lwemfuza, lolunye unyango olunethemba.

La maqela alandelayo anokubonelela ngolwazi oluthe kratya malunga nerett syndrome:

• Isiseko seSizwe seRett Syndrome - www.rettsyndrome.org
• IZiko leLizwe leZiphazamiso ze-Neurological and Stroke - www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet
• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/rett-syndrome

Esi sifo siba mandundu de kuye kufikelela kwiminyaka yeshumi elivisayo. Emva koko, iimpawu zinokuphucula. Umzekelo, ukuxhuzula okanye iingxaki zokuphefumla zihlala zincipha kwiminyaka yeshumi elivisayo.

Ukulibaziseka kophuhliso kuyahluka. Ngokwesiqhelo, umntwana one-RTT uhlala ngokufanelekileyo, kodwa usenokungarhubuluzi. Kwabo bakhasa, abaninzi bakwenza oko ngokukhaba esiswini ngaphandle kokusebenzisa izandla.

Ngokufanayo, abanye abantwana bahamba ngokuzimeleyo kwinqanaba eliqhelekileyo lobudala, ngelixa abanye:

• Ukulibaziseka
• Musa ukufunda ukuhamba ngokuzimeleyo kwaphela
• Sukufunda ukuhamba de kube ngumntwana ofikisayo okanye kwinqanaba lokufikisa

Kulabo bantwana bafunda ukuhamba ngexesha eliqhelekileyo, abanye babugcina obu bomi ubomi babo bonke, ngelixa abanye abantwana belahlekelwa sisakhono.

Ukulindelwa kobomi akufundiswanga kakuhle, nangona ubuncinci bokuphila kude kube phakathi kwe-20s kunokwenzeka. Umndilili wokulindelwa kobomi bamantombazana unokuba phakathi kwe-40s. Ukufa kuhlala kuhambelana nokuhlutha, i-aspiration pneumonia, ukungondleki kunye neengozi.

Fowunela umboneleli wakho ukuba:

• Unayo nayiphi na inkxalabo malunga nokukhula komntwana wakho
• Qaphela ukunqongophala kophuhliso oluqhelekileyo ngezithuthi okanye izakhono zolwimi emntwaneni wakho
• Cinga ukuba umntwana wakho unengxaki yempilo efuna unyango

RTT; Scoliosis - Rett isifo; Ukukhubazeka kwengqondo - irett syndrome

Kwon JM. Ukuphazamiseka kwengqondo kwi-neurodeergenerative yobuntwana. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla we-20. IPhiladelphia, PA: Elsevier; Ngo-2016: isahluko 599.

IMink JW. Ukuzala, ukukhula, kunye nokuphazamiseka kwengqondo kwimithambo-luvo. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Umhla wama-25. IPhiladelphia, PA: Elsevier Saunders; Ngo-2016: isahluko 417.