I fate hmel lan dan, a bik takin mit leh mitmeng hi a danglam deuh tih i hmu ngai em? A nih loh leh i fa hian hmasawnna a tlai emaw, taksa ruh a chak lo emaw tih i hmu em? Hetiang thil an hmuh hian nu leh pate hian hlauhna tlem an neih hi thil pangngai a ni. Vawiin hian Kabuki Syndrome chungchang kan sawi dawn a, hei hi genetic condition hmuh tur awm lo tak, heng symptoms te hi a ni.
Engvangin nge ‘Kabuki’ an tih? Engtin nge hei hi hmuhchhuah a nih?
He thawnthu hi Japan ramah kum 1960 chho atang khan a intan a. Chutah chuan doctor team pahnih chuan naupang pawl pakhat, natna lan chhuah dan mak tak tak, inzawmna nei lo an hmu a. Heng naupangte hian an hmelah hian hmel danglam tak an nei a. An mitmeng chu chunglam hawiin a inher a, an mitmeng chu a sei hle a, an mit chu a sei hle bawk .
Ngaihtuah teh, Japanese hnam dan anga "kabuki" play-a actors-te chuan heng features te hi tizual turin special makeup an hmang thin. Chuvangin, heng naupangte hmel lan dan leh kabuki actors te makeup inang lo tak avang hian doctor pakhat chuan he natna hi "kabuki makeup syndrome" tiin a vuah a ni. A hnuah "Kabuki Syndrome (KS)" tiin a tawi leh ta a ni.
A tirah chuan he natna hi Japan ramah chauh a awm niin an ngai a. Mahse a hnuah chuan he natna vei naupangte hi khawvel hmun hrang hrangah, hnam hrang hrang zingah hmuh tur an awm ta a ni. Hei hi thil awm lo tak a ni. Hetiang natna neia piang naupang 32,000 zinga pakhat vel chu a vei a ni.
Kabuki Syndrome hi eng nge ni tak tak?
A awlsam zawngin, Kabuki syndrome hi genetic condition a ni . Chu chu kan taksaa genes inthlak danglamna avanga lo awm a ni tihna a ni. Pian tirh atanga lo awm thin condition a ni. Simptom thenkhat chu nau piang hnu lawkah hmuh theih a ni. Mi dangte chu naupang a lo puitlin chuan an lo lang thin.
A pawimawh ber chu he natna vei naupang zawng zawng hian symptoms inang vek an nei vek dawn lo. Mi tin hian symptoms combination hrang hrang an nei thei.
Hetiang natna hmuh tur awm lo tak hi dik taka hriat a harsa thei a, doctor tam tak chuan an hnathawh chhungin hetiang damlo hi an la hmu lo mai thei. Tin, a lan chhuah dan thenkhat chu natna dang nen a inang a, chu chuan diagnosis a ti buai hle bawk.
He natna lan chhuah dan berte chu engte nge ni?
A hmaa kan sawi tawh hmêl danglam tak takte bâkah, mizia dang hmuh theih engemaw zât a awm bawk. Table pakhatah chiang takin i hrethiam ang u.
| Mihring ziarang chi khat | Thil hmuh tur awm |
|---|---|
| Hmai leh lu nena inzawm |
|
| Skeleton leh taksa peng hrang hrang | |
| Hmasawn dan leh taksa kalphung |
Thiamna leh nungchangah danglamna a awm em?
Ni e, chûng naupang zînga tam tak chuan rilru lama harsatna tlêm tê emaw, a tê tê emaw an nei thei a ni . Thusawi leh kea kal ang chi hmasawnna tlai an nei thei bawk.
Thiltih dan thenkhat chu autism emaw OCD (Obsessive-Compulsive Disorder) ang chi dinhmun nen a inang thei. Entir nan:
- I hmuiah thil dah a, chew tum reng reng.
- Aw emaw, thil dang emaw laka overreaction.
- Chaw ei tur thlum emaw, a hmin emaw thenkhat nei hnawl.
Naupang a lo upat deuh deuh chuan lungkhamna emaw, lungngaihna emaw ang chi dinhmun chhinchhiahna an nei thei a ni.
Mahse heng naupangte hian theihna bik an nei bawk. Nu leh pate chuan heng naupangte hian music an ngaina hle tih an sawi fo thin.Hla thenkhat hriatreng theihna mak tak an nei a. Tin, thenkhat chuan hmel leh date hriat reng theihna bik an nei bawk.
Hei hi eng nge a chhan? Genetics lam hawi...
Tun thlengin scientist-te chuan he natna thlentu genetic mutations lian pahnih an hmuchhuak tawh a ni.
1. KMT2D gene-a mutation: Hei hi Kabuki syndrome vei zinga 75% velin a chhan a ni.
2. KDM6A gene-a mutation: KMT2D mutation nei lo zinga 9% velin he mutation hi an nei a.
A tam zawkah chuan he genetic mutation hi naupang taksaah mutation thar lo awm a ni. Chu chu nu emaw, pa emaw atanga rochun a ni lo tihna a ni. Mahse, a tlem hle a, naupang hian nu leh pa zinga pakhat hnen atangin he natna hi a rochun thei a ni.
Engtin nge enkawl a nih?
A hmasa berah chuan Kabuki syndrome hi damdawi a awm lo . Naupang a lo puitlin chuan a bo vek tur dinhmun a ni lo. Mahse, a natna hriat hmasak leh enkawlna leh puihna \ha tak chuan naupang chu nun \ha zawkin a nung thei a ni.
Enkawlna kawng hrang hrangte chu naupangin a natna lan chhuah dan leh harsatna bik a neih danah a innghat a, specialist leh therapist hrang hrangte puihna a ngai thei bawk.
| Damdawi lam tanpuina a ngai mai thei | Therapy service mamawh thei turte pawh |
|---|---|
|
Heng naupangte dam rei zawng chungchang sawi dawn chuan Kabuki syndrome ngei pawh hian an dam rei zawng a ti tawi lo. Mahse, a kaihhnawih natna khirh tak tak, thinlung natna emaw, kal lama harsatna emaw a awm chuan nunna atana hlauhawm tak a ni thei. Chuvangin medical monitoring neih reng a pawimawh hle.
Sikul nun leh puitlin hun
Heng naupangte hian sikul an kal thei a ni. Mahse, an mamawh ang zela special education plan an mamawh a ni. Special education zirtirtu puihna an mamawh mai thei. Naupang thenkhat chu infiamna lamah an tel thei bawk.
An puitlin huna an nun chu eng ang nge a nih dawn tih chiang taka sawi a har a, an natna lan chhuah dan nasat dan hi mi tin a inang lo. Mi \henkhat, hna \ha tak takte chu mahni inrintawkna neiin an khawsa thei a, nupui pasal pawh an nei thei bawk.
Take-Home Thuchah a ni
- Kabuki syndrome hi a awm lo hle a, pianpui atanga lo piang a ni. Hlauhawm a ngai lova, fimkhur a pawimawh hle.
- Hmêl danglam tak, taksa ruh chak lohna, leh hmasawnna tlai te hi a lan chhuahna ber a ni.
- He natna hi tihdam kim theih ni lo mah se, a hmaa hriatchhuah leh enkawlna dik leh enkawlna service pek hian naupang nunphung nasa takin a tichangtlung thei a ni.
- Naupang tin hi an danglam vek a, chuvangin i doctor leh specialist dangte nen thawhhona tha tak nei la, i fain eng tanpuina nge a mamawh tih hrethiam rawh.
- Hêng naupangte hian harsatna nei mah se, nunah hmangaihna, music leh thil dang tam tak an tawng thei a ni. A pawimawh ber chu hmangaihna leh thlawpna pek hi a ni.











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