Iyini imbangela ye-Rett's syndrome?
Njengamanje, kukhona ubufakazi obuningi bokuthi ukwephula kunemvelaphi yezakhi. Ukukhubazeka cishe kutholakala kuphela kumantombazane. Ukubukeka kwe-Rett syndrome kubafana kuyinto ehlukile futhi akuvamile ukuqoshwa.
Indlela yokuthuthukiswa kwalesi sifo ihlobene ngokuqondile nokuguqulwa kwegciwane lomzimba wezingane, ikakhulukazi, ngokuhlukana kwe-x chromosome. Ngenxa yalokho, kukhona ushintsho lwe-morphological ekuthuthukiseni ubuchopho, okuyinto eyeke ngokuphelele ukukhula kwalo ngonyaka wonyaka wokuphila kwengane.
Yiziphi izimpawu ezisemqoka ezibonisa ukuthi kukhona i-Rett syndrome ezinganeni?
Njengomthetho, ezinyangeni zokuqala umntwana ubonakala ephilile futhi engafani nontanga yakhe: isisindo somzimba, umjikelezo wekhanda uhambisana ngokugcwele nemigomo ebekiwe. Yingakho nanoma yikuphi ukusola odokotela ngokwephula ukuthuthukiswa kwayo akuveli.
Into kuphela engabonwa emantombazaneni ngaphambi kwezinyanga eziyisithupha ukubonakaliswa kwe-atony (ukuxosha kwemisipha), ebuye ibhekwe ngu:
- ukwehlisa izinga lokushisa komzimba;
- ukujuluka kwezinyawo nezintende;
- i-pallor yesikhumba.
Sekudlule ngasekupheleni kwenyanga yesishiyagalombili yokuphila, izimpawu ze-lag ekuthuthukiseni ukuhamba kwemoto ziqala ukuvela, phakathi kwazo eziphendukela emuva futhi zikhahlela. Esikhathini esizayo, ubunzima buyabonakala ekushintsheni ukusuka endaweni enezingqimba zomzimba kuya emaceleni, futhi kunzima nezinsana ukuba zime emilenzeni yazo.
Phakathi kwezibonakaliso eziseduze zalesi sifo, singakwazi ukuhlukanisa:
- ukungafani kwesilinganiso sokukhula;
- ubukhulu obukhulu bezingalo nemilenze emzimbeni, ikhanda elincane;
- ukuphathwa kwengxoxo yokukhulumisana;
- izingxenyana ezingalindelekile zamadolo lapho zihamba;
- ukwephulwa kokumiswa;
- ukubonakala kokubamba;
- ukubambezeleka kokuthuthukiswa kwengqondo.
Ngokuhlukile kuyadingeka ukusho ukuthi isifo se-Rett syndrome esifundeni esimisiwe (lapho lesi sifo sithuthuka) ngaso sonke isikhathi sihambisana nokuphulwa kwenqubo yokuphefumula. Izingane ezinjalo zingalungiswa:
- i-apnea (ngokuzumayo, ukuyeka okungazelelwe kokuphefumula);
- i-aerophagia (ukungenisa umoya, okuholela ekuphindiseni kabusha);
- i-hyperventilation (supersaturation yamapayipi nge-oksijeni ngenxa yokuphefumula okusheshayo nokungapheli).
Futhi, phakathi kokukhanyayo, okuphawulekayo kubomama bezimpawu, ungakwazi ukubona ukunyakaza okuphindaphindiwe, okuphindaphindiwe. Kulesi simo, okuvame ukuphawula kukhona ukuhlukahluka okuhlukahlukene ngezindlela zokuphatha: ingane ibonakala igeza noma igaxe ebusweni bomzimba, njengokungathi ingenxeba. Izingane ezinjalo zivame ukuluma izibhamu ezifakiwe, ezihambisana nokunyuka okuphezulu.
Yiziphi izigaba zesifo?
Ngemva kokucabangela izici zezinkinga ze-Rett syndrome, ake sikhulume ukuthi yiziphi izigaba zokuthuthukiswa kwezifo ngokuvamile ezibekiwe:
- Isigaba sokuqala - izimpawu eziyisisekelo zivela esikhathini esiyizinyanga ezingu-4 -1,5-2. Efaniswa nokunciphisa ekukhuleni.
- Isigaba sesibili ukulahlekelwa kwamakhono atholakele. Uma kuze kube unyaka intombazane encane ifunde ukubiza amanye amazwi nokuhamba, bese kuthi eminyakeni eyi-1.5-2 ilahlekile.
- Isigaba sesithathu yisikhathi seminyaka engu-3-9. Kubonakala ukuzinza okuhambisanayo nokuphuza kwengqondo okuqhubekayo.
- Isigaba sesine - kunezinguquko ezingenakuguqulwa ohlelweni lwezitshalo, isimiso se-musculoskeletal.
Lapho uneminyaka engu-10, ikhono lokuhamba ngokuzimela lingalahleka ngokuphelele.
I-Rhett's syndrome ayiphendule ukwelashwa, ngakho-ke zonke izinyathelo zokwelapha zalesi sifo ziyingozi futhi zihlose ukunciphisa inhlalakahle jikelele yentombazane. Isibikezelo salokhu kuphulwa akucacile kuze kube sekupheleni. lesi sifo sibonakala iminyaka engaphezu kwengu-15. Kumele kuqashelwe ukuthi ezinye iziguli ziyafa ekukhuleni, kodwa iziguli eziningi zifinyelela eminyakeni engama-25-30. Iningi labo lingenakulinganiswa, futhi lihamba ngezihlalo zabakhubazekile.