Nu emaw pa emaw kan nih angin kan duhthusam ber chu fa hrisel neih hi a ni. Mahse a chang chuan kan fate hi hriselna lama harsatna awm lo tak tak thenkhat nen he khawvelah hian an lo kal thei thin. I fa te chu a kum aiin a naupang zawkin a lang em? A hmel hian naupang dang aiin hmel danglam, special tak a nei em? Tin, midangte nena inpawh tak, nuihzatthlak tak leh a hmuh apiangte nena inbiakna nei tha tak a ni em? Hengte hi a chang chuan "Williams Syndrome" an tih, genetic condition hmuh tur awm lo tak chhinchhiahna a ni thei bawk. Ngaihtuah buai suh, he thu hi chiang tak leh awlsam takin kan sawi dawn a ni.
A awlsam zawngin Williams Syndrome hi eng nge ni?
Williams syndrome, a then chuan Williams-Beuren syndrome an tih hi genetic condition hmuh tur awm lo tak a ni. A awlsam zawngin sawi ila, kan taksa cell chhunga awm chromosome-te hian kan san zawng atanga kan rawng leh kan lan dan thlengin a hril vek a ni. Kan taksa siamtu instruction manual ang an ni. Williams syndrome vei naupang pakhat chuan chromosome 7 te tak te a bo a. Instruction manual-a phek tlemte awm lo ang mai a ni. He gene piece bo hian he natna nena inzawm symptoms a thlen thin.
Hetiang dinhmun hian naupang thanlenna, zir thiamna, thinlung hnathawh dan leh hmel lan dan a nghawng thei a ni. Hormone lama harsatna thenkhat a thlen thei bawk a, chu chu thisen calcium level sang, underactive thyroid, leh puitlin hma te hi a ni.
Engtin nge he dinhmun hi a lo awm? Hei hi tuin nge dawng ?
A tam zawkah chuan hei hi nu emaw pa emaw atanga rochun thil a ni lo. Naupai lai a lo awm, spontaneous mutation a ni a, chu chuan 7th chromosome hmun thenkhat a hloh phah a ni. Chuvang chuan he thilah hian nu emaw, pa emaw pawh mawhpuh theih a ni lo. Hei hi tu pawhin an dang thei lo.
Mahse, Williams syndrome vei chuan fa a neih chuan naupangin a rochun theihna chance 50% a awm a ni.
Hei hi thil awm lo tak a ni. America ang ram statistics atanga a lan dan chuan naupang piang 10,000 zinga pakhat chauh hian he natna hi an nei a ni. Sri Lanka ramah pawh hetiang natna vei naupang an awm a, mahse a tlem hle.
He dinhmun hian engtin nge ka fa chu a nghawng?
Williams Syndrome vei naupang enkawl chu thil harsa tak a ni thei a, mahse a hmaa hriat chian a, a tul anga enkawl leh puihna an neih chuan anni pawhin an theihna zawng zawng an hlen chhuak thei a ni.
Ngaihtuah teh, heng naupangte hian ruh (joint) hrual (loose joint) an neih avangin naupang dangte aiin an thut leh an kal tlai deuh a ni. Tin, an thinlungah emaw, thinlung nena inzawm thisen kalna kawngah emaw piansualna engemaw zat an nei thei bawk. A châng chuan hei hi operation a ngai thei bawk. Chuvangin damdawi lam enfiahna mumal tak neih a ngai a ni.
Heng naupangte thil mak tak pakhat chu thusawi thiamna sang tak leh inbiakpawhna thiamna sang tak an neih hi a ni. Thusawi mawi tak tak leh inpawh tak tak an ni. Mahse he talent avang hian a chang chuan an zirlai chak lohna te, entirnan number leh letter zir harsat te hi kan ngai fo thin. Thil pakhat leh thil dang (spatial reasoning) inthlauhna hriatthiam harsa deuh an nei.
Tin, heng naupangte hian hun rei tak chhunga hriatrengna tha tak an nei tih hre reng ang che. Mahse ADHD (Attention-Deficit/Hyperactivity Disorder) ang chi condition an nei thei a, chutah chuan an ngaihtuahna seng reng harsa an ti hle.
A lan chhuah dan tlangpui chu engte nge ni?
Williams syndrome vei naupang zawng zawng hi an inang vek lo. Ṭhenkhat chuan symptoms an nei tam zawk thei a, ṭhenkhat chuan an nei tlem zawk thei bawk. Heng symptoms te hi i titawp ang u.
| Mihring ziarang category | Thil hmuh tur awm |
|---|---|
| Taksa hmel lan dan |
|
| Hmasawn leh nungchang | |
| Hriselna lama harsatna dangte |
A bik taka fimkhur tur thil: Lung natna
Hetiang dinhmunah hian harsatna lian ber hmuh tur chu thinlung natna a ni. A bik takin, thinlung nena inzawm thisen kalna kawng lian ber ber leh lung lama thisen phurtu thisen kalna kawngte chu a zim (stenosis) tih hmuh theih a ni. Hei hian thisen sang a thlen thei a, heartbeat mumal lo (arrhythmia) a thlen thei a, a chang chuan cardiac failure pawh a thlen thei bawk. Vawi tam tak chu naupangin Williams syndrome a vei nia rinhlelhna hmasa ber chu he thinlung lam harsatna vang a ni.
Engtin nge doctor-te hian he natna hi an hriat theih?
He natna hi nausen emaw, naupan lai emaw atanga hmuhchhuah a ni tlangpui. I doctor-in i fa hmel leh natna lan chhuah dan a rinhlelh chuan naupang chu uluk takin a enfiah hmasa ang.
Tichuan, he natna hi finfiah nan special genetic test an nei leh thin. Hei hi thisen test pangngai ang a ni. Hei hian a hmaa ka sawi tawh chromosome 7 part kha a bo leh awm loh chiang takin a enfiah thei a ni.
Tin, naupang natna lan chhuah dan dangte finfiah nan test dang engemaw zat tih theih a ni bawk:
- Thinlung enfiah nan: ECG emaw Echocardiogram (thinlung ultrasound scan) emaw hmanga enfiah a ni.
- Thisen sang tehna: I thisen sang chu a pangngai lo zawngin a sang em tih enfiah thin ang che.
- Thisen leh zun test: Kal hnathawh dan leh thisen calcium level enfiah thin.
Engtin nge enkawl a nih? Hei hi tihdam theih a ni em?
Williams Syndrome hi natna tihdam theih tak tak a ni lo. A chhan chu genetic mutation avanga lo awm a nih vang a ni. Mahse, a natna lanchhuahna leh harsatna awmte chu uluk takin enkawl theih a ni. Chumi awmzia chu naupang chu nun pangngai, hlim taka a awm theih nan theihtawp kan chhuah thei tihna a ni.
Enkawl dan tur ruahmanna chu naupang tinah a inang lo ang a, naupang natna lan chhuah dan azirin a inang lo ang.
- Cardiologist tlawh: Lung lam harsatna a awm chuan eng enkawlna (damdawi emaw, surgery emaw pawh ni thei) mamawh chu a rel ang.
- Early Intervention Programme hrang hrangte: 1.1.Naupang chu a thanlenna a tlai loh nan speech therapy leh physiotherapy ang chi thila refer a pawimawh hle.
- Special Education: Zirna lama harsatna nei an awm chuan naupang chuan an mamawh ang zela zirna kalphung a mamawh a ni.
- Specialist dang: I thisena calcium level a san chuan nephrologist emaw nutritionist emaw i pan a ngai mai thei. Ha, mit leh beng lama harsatna nei te tan pawh specialist te tanpuina i dil a ngai mai thei bawk.
Nu leh pa ka nih angin eng nge ka hriat ngai?
Hetiang diagnosis i dawn hian lungngaihna leh hlauhna i neih hi thil pangngai a ni. Mahse a pawimawh ber chu i fa chu i hmangaihna, i ngaihsakna leh i thlawpna tha ber pek hi a ni.
- A hun takah Doctor hmu rawh: I fate hriselna en reng a pawimawh a, a bik takin lung lam harsatna nei tan chuan a pawimawh hle.
- Dawhthei rawh: I fa hian a duh danin engkim a zir vek a. Dawhthei tak leh hmangaihna nen thawk ho rawh. A hlawhtlinna tenau te pawh ngaihlu rawh.
- Nangmah chauh i ni lo: Hetiang fa nei nu leh pa dangte nen inbiakna neihpui rawh. An thil tawn te hi i tan chakna nasa tak a ni ang. Tin, i zawhna leh i ngaihtuahnate chu i doctor nen zalen takin sawipui bawk ang che.
Williams syndrome vei tam zawk hi chuan dam chhung hun pangngai an nei a. Mahse, thinlung lama harsatna lian tak tak a awm chuan a chang chuan an dam chhung a ti tawi thei a ni. An lo upat deuh deuh chuan ṭanpuina level engemaw chen an mamawh mai thei.
Engtikah nge doctor i hmuh ang?
I fa hian a hnuaia symptoms te hi a neih chuan naupang doctor pan a, thurawn lak a pawimawh hle.
| Huntha | Hrilhfiahna |
|---|---|
| Hmasawnna lama tlai lutuk | Naupang chu kum tling taka an lu chawi sang, inher, thut, kal, emaw, inbiakna emaw a tihkhawtlai chuan. |
| Hri kai fo thin | A bik takin beng natna a awm fo emaw, naupangin hriat harsa a tih ang emaw a nih chuan. |
| Ei leh in lama harsatna nei | I naute hian bawnghnute in emaw, ei emaw a harsat chuan. |
Engtikah nge Emergency Treatment Unit (ETU) ah i kal ang?
Naupangin a hnuaia mi ang hian thinlung natna a lantir chuan damdawi in hnai ber Emergency Department (ETU)-ah hruai nghal tur a ni.
- Vun emaw hmui emaw a rawng blue/purple a inthlak .
- Thâwk rang emaw thawk harsa emaw.
- Ei leh in lama harsatna nasa tak neih.
- Heart rate hi a rang hle.
- Taksa, a bik takin hmai leh ke ruhte a hring .
He dinhmun hi kai theih a ni lo va, mahse heng naupangte hmangaihna leh midangte nena inpawh tawnna hi "kai theih" tak a ni. An chhehvela mi zawng zawng tan hlimna an thlen thin. Diagnosis thar hmachhawn chu thil harsa tak a ni thei a, chuvangin i fa chu i support pe fo ang che.
Take-Home Thuchah a ni
- Williams syndrome hi nu leh pa sual vang a ni lo. Naupai laia thil thleng mai mai, genetic change a ni.
- Heng naupangte hian hmel danglam tak, hmangaihna nei tak leh mi inngaitlawm tak, midang nena inpawh tak tak an nei a ni.
- Hriselna chungchanga ngaihtuahawm ber chu thinlung leh thisen kalna kawng nena inzawm dinhmun a ni. Chuvangin regular medical checkup neih hi a pawimawh hle a ni.
- Zirna lama harsatna nei pawhin thusawi thiamna tha tak tak leh hun rei tak hriatrengna an nei thei a ni.
- Naupang chu a hmaa hriatchhuah leh enkawlna leh therapy programme tul anga refer hian nun tha tak a neih theih nan a pui thei a ni.
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