Yintoni ebangela i-Rett's syndrome?
Okwangoku, kukho ubungqina obuninzi bokuthi ukuphulwa kunemvelaphi yemfuza. I-Pathology ihlala ifunyanwa kuphela kumantombazana. Ukubonakala kwe-Rett syndrome kumakhwenkwe kuyinto engafaniyo kwaye ayifumaneki kangangoko.
Indlela yokuphuhliswa kwengxaki ihambelana ngqo nokuguqulwa kwe-genome yezinto zokusebenza zomntwana, ngokukodwa, ngokuchithwa kwe-chromosome. Ngenxa yoko, kukho utshintsho lomzimba ekuphuhlisweni kwengqondo, eliye layeka ngokupheleleyo ukukhula kwalo ngonyaka wonyaka wobomi bomntwana.
Ziziphi iimpawu eziphambili ezibonisa ubukho be-Rett syndrome kubantwana?
Njengomthetho, ezinyangeni zokuqala umntwana ubonakala ephilile kwaye akafani neontanga zakhe: ubunzima bomzimba, umgca wekhanda uhambelana ngokupheleleyo nemimiselo esekwe. Yingakho naluphi na ukusola koogqirha ekuchaseni uphuhliso lwayo aluvuki.
Into ebonakalayo emantombazaneni phambi kweenyanga ezintandathu kukubonakaliswa kwe-atony (ukuxhamla kwemisipha), ebonakalayo yile:
- ukuhla kweqondo lokushisa komzimba;
- ukukhupha kweenyawo kunye neentende;
- kuphazamiseka kwesikhumba.
Sekudlulileyo kwinyanga yesi-5 yobomi, iimpawu ze-lag ekuphuhliseni ukuhamba kweemoto ziqala ukuvela, phakathi kwazo zijikeleza ngasemva kwaye zikhwela. Kwixesha elizayo, ubunzima bubonakala kwiinguqu ezivela kwindawo engezantsi yomzimba ukuya kwinqanaba, kwaye kunzima ukuba iintsana zimi emilenzeni yazo.
Phakathi kweempawu ezisondeleyo zesi sifo, sinokuhlukanisa:
- ukungafani kokukhula kwezinga;
- ubukhulu obungalinganiyo beengalo nemilenze emzimbeni, intloko encinci;
- ingxaki yokuphuhlisa intetho;
- ukudibanisa ngamadolo ekungahambi xa uhamba;
- ukuphulwa komsebenzi;
- ukubonakala kokuthintela;
- ukulibala ukuphuhliswa kwengqondo.
Ngokwahlukileyo kuyimfuneko ukuthetha ukuba isifo se-Rett syndrome kwisifo esilumkileyo (xa isifo siqhubeka) sihlala sihamba kunye nokuphulwa komsebenzi wokuphefumula. Abantwana abanjalo banokumiswa:
- i-apnea (ngokukhawuleza, ukuyeka ngokukhawuleza ukuphefumla);
- i-aerophagia (ukungcola kwomoya, okukhokelela ekuphindiseni ngokuphindaphindiweyo);
- ukuchithwa kwe-hypervenation (ukugqithiswa kwemiphunga kunye ne-oksijeni ngenxa yokuphefumla okukhawulezileyo nokungapheliyo).
Kwakhona, phakathi kokuqhakazileyo, ngokuphawulekayo kubomama beempawu, unokukwazi ukubonisa ukunyakaza okuphindaphindiweyo. Kule meko, iimeko eziqhelekileyo zichongiwe zizinto ezahlukeneyo eziphathekayo: umntwana ubonakala ehlamba okanye ahlambele ebusweni bomzimba, njengokungathi utyumkileyo. Abantwana abanjalo bahlala bexuma amahlombe, ahamba kunye nokunyuka kwee-salivation.
Ziziphi izigaba zesifo?
Emva kokuqwalasela iimpawu zeengxaki ze-Rett syndrome, makhe sithethe malunga naziphi na izigaba zokuphuhliswa kwezilwanyana eziqhelekileyo zinikezelwa:
- Isigaba sokuqala - iimpawu zeprayimari zibonakala kwixesha leenyanga ezine--1,5-2. Eyona nto ibonakaliswe ngokunciphisa ukukhula.
- Isigaba sesibini kukulahlekelwa kwezakhono ezifunyenweyo. Ukuba ukufika unyaka intombazana encinane ifundile ukubiza amagama kunye nokuhamba, emva kweminyaka eyi-1.5-2 ilahlekile.
- Isigaba sesithathu lixesha leminyaka eyi-3-9. Ubonakaliswa ukuzinza ngokuhambelana nokuhlaselwa kwengqondo.
- Isigaba sesine - kukho utshintsho olungenakuguquka kwenkqubo yokutya, i-musculoskelet system.
Xa uneminyaka eyi-10, ukukwazi ukuhamba ngokuzimeleyo kunokulahlekelwa ngokupheleleyo.
I-Rhett's syndrome ayiphenduli ngonyango, ngoko ke onke amanyathelo okwelapha kwesi sifo awona mqondiso kwaye ahlose ukunciphisa intle-ntle yentombazana. Isibikezelo saloluphulo alucacanga de kube sekupheleni. esi sifo siyabonwa kungekho ngaphezu kweminyaka eyi-15. Kufuneka kuqatshelwe ukuba ezinye izigulane ziyafa ebusheni, kodwa izigulane ezininzi zifikelela kwiminyaka engama-25-30. Uninzi lwazo alupheli, kwaye zihamba kwizihlalo zabakhubazekile.