I naupang tê chu a sociable hle em? Mi hmangaihna ngah tak, a hmuh apiangte nena nuihzatthlak leh inbiakna nei mi a ni em? Chutih rual chuan, a chang chuan hmasawnna tlai tlem emaw, zirlai harsatna emaw a awm em? A châng chuan chutiang mizia hnuaiah chuan Williams Syndrome tih hming pu genetic condition hmuh tur awm lo tak a awm thei bawk. He hming i hriat hian hlau suh. Hei hi kan sawi leh hriatthiam a ngai a ni. Vawiin hian engkim hi i hriatthiam theih tur awlsam takin kan sawi dawn a ni.
A awlsam zawngin Williams Syndrome hi eng nge ni?
Williams syndrome, Williams-Beuren syndrome tia koh thin hi pian tirh atanga lo awm thin, genetic condition awm lo tak a ni. Neurological development a nghawng a ni. Hetiang natna vei naupangte hian hmel danglam tak an nei thei a, an thanlenna a tlai thei a, zirlai an thiam loh phah thei a, rilru leh thisen kalna kawngah pawh harsatna an nei thei bawk.
Kan taksa hi instruction manual lian tak atanga siam niin han ngaihtuah teh. He instruction manual ah hian genes a awm a. Heng genes te hi chromosomes ah an awm a. Chromosome pahnih 23 kan nei a, chu chu a vaiin 46 a ni . Williams syndrome vei chuan chromosome 7-ah hian a piece te tak te a bo a, chu instruction manual-a phek bo ang mai a ni. He page bo vang hian taksa hnathawh leh thanlenna thenkhat chu a danglamin a thleng thin. Chu chu Williams syndrome kan tih chu a ni.
A pawimawh ber chu, hei hi nu leh pa atanga fate rochun a ni tlangpui lo. Hei hi genetic makeup-a random change a ni. Chuvangin he thilah hian nangmah leh nangmah hi mawhpuh suh.
He dinhmun hian naupang chungah eng nghawng nge a neih theih?
Hetiang natna nei naupang zawng zawng hi an inang vek lo. A natna lan chhuah dan hi mi hrang hrangah a inang lo thei. Mahse a lan chhuah dan tlangpui thenkhat a awm. Hengte hi i ti chhe vek ang u.
Taksa mizia leh hmel lan dan
Heng naupangte hian hmel mawi tak, danglam tak an nei thei a ni.
| Mihring ziarang | Hrilhfiahna |
|---|---|
| Hmai | A hmui a khat, hmui zau tak, hmui langsar tak, hnar te tak te, a hmui te tak te. |
| Mit | Mit chhung lam kil khatah vun hrual (epicanthal folds) hmuh tur a awm. |
| Ha | Ha te tak te, ha inkar gap, ha bo emaw, enamel chak lo emaw. |
| Sanzawng | Mi tam tak chu an san zawng chu a tlangpui aia tawi zawk an ni. Naupan lai hian thanlenna a slow thei. |
Hmasawn leh nungchang
Heng naupangte hian hmasawnna tur thil engemaw zat an thlen theih nan hun rei tak an hmang a, mahse theihna bik an nei bawk.
- Thusawi: Thusawi tan an tlai deuh mai thei a, mahse vawi khat an sawi zawh chuan tawng thiamna tha tak an nei ta a ni . Thusawi mawi leh sawifiah thiam tak an ni.
- Movement: Muscle tone hniam (hypotonia) avang hian naupang dang aiin thut leh kal ang chi thil zir nan hun a duh rei zawk.
- Zirna: Number, letter, leh space (up, down, near, far) hriatthiamna kawngah harsatna engemaw zat an nei thei. Mahse hriatrengna tha tak an nei a ni .
- Sociability: Hei hi heng naupangte mizia langsar ber a ni. An inngaitlawm hle a, an hmangaih em em a, an khawngaihthlak hle bawk. Mi hriat loh hriat harsa an ti a, chuvang chuan tu nen pawh inṭhianṭhatna an siam thuai ṭhin. A châng chuan lungkham lutuk emaw, thil engemaw hlauhna emaw (phobias) pawh an nei thei.
Hriselna lama harsatna dangte
Hetiang dinhmun hian hriselna lama harsatna dang a thlen thei bawk. Hengte hi fimkhur a pawimawh hle.
- Lung natna: Hei hi fimkhur tur pawimawh ber a ni . Thinlung nena inzawm thisen kalna kawng lian tak takte chu a tawi (stenosis) hi a awm fo thin. Hei hian thisen sang leh heartbeat mumal lo (arrhythmia) ang chi dinhmun a thlen thei a ni.
- Calcium level: Thisen leh zun a calcium level a sang thei.
- Hormone lama harsatna: Puitlingah hypothyroidism, puitlin hma leh zunthlum vei theihna a awm.
- Beng infection: Beng infection tam lutuk hian hriatna a tichhe thei a ni.
- Thil dang: Scoliosis, naupan laia chaw ei harsatna, leh mit lama harsatna (hla tak tak) te pawh hmuh tur a awm thei bawk.
Engtin nge doctor hian hei hi a hriat chian?
I doctor chuan i fain hmasawnna a tihkhawtlai a rinhlelh emaw, an hmel lan dan a ngaihtuah emaw chuan he dinhmun hi a ngaihtuah thei ang. Diagnosis tih chian dan ber chu genetic test hmanga enfiah a ni . Hei hi thisen test pangngai ang a ni. Chromosome 7 awm loh a enfiah thei bawk.
Chu bakah, symptom dang finfiah nan test dang engemaw zat tih theih a ni bawk:
- Heart examination: ECG emaw heart scan (Echocardiogram) hmangin thinlung leh thisen kalna kawngah harsatna a awm leh awm loh enfiah thin a ni.
- Thisen sang tehna: I fa thisen sang en reng a pawimawh.
- Thisen leh zun test: Heng test te hi calcium level leh kal hnathawh dan enfiah nan an ti thin.
Engtin nge enkawl leh enkawl a nih?
Williams syndrome hi genetic condition a nih avangin a dam kim thei lo. Mahse, a kaihhnawih chhinchhiahna leh harsatnate chu uluk taka enkawl theih a ni a, naupang chu nun pangngai, hlim takin a nung thei a ni.
Enkawl dan tur ruahmanna hi naupang hrang hrangah a inang lo a, specialist hrang hrangte puihna a ngai a ni.
1. Cardiologist: Naupang thinlung enfiah reng a pawimawh. Harsatna a awm chuan a tul anga enkawlna (damdawi emaw, surgery emaw) pek tur a ni.
2. Early Intervention: Naupang thanlenna leh zirna pui turin enkawlna chi hrang hrang a awm a. Speech Therapy, Occupational Therapy, Physiotherapy te hi a pawimawh ber a ni.
3. Zirna bik: Zirna lama harsatna lo awm thei te hneh turin zirna kawng bik a ngai mai thei.
4. Specialist dang: Calcium level control nan te, hormone lama harsatna nei te enkawl nan te, i ha leh mit hriselna enfiah nan heng lama specialist doctor te hmuh a pawimawh.
Doctor hmuh hun tur leh ETU pan hun tur
I fate hriselna ngaih pawimawh a pawimawh hle. A hnuaia thil awm danah hian damdawi lam thurawn lak hi tihkhawtlai suh.
| Huntha | Eng nge tih tur |
|---|---|
| I doctor hmu rawh... | |
| Hmasawnna lama thil pawimawh tak takte a tlai chuan (e.g., tlai taka kal emaw, thusawi emaw). | I fate hmasawnna chungchang hi i doctor nen sawiho rawh. |
| Beng natna i neih fo emaw, hriatna lama harsatna i neih emaw chuan. | Beng, hnar leh kawr lam mithiamte pan a tha. |
| Chaw ei harsatna i neih chuan. | Ei leh in leh ei harsatna chungchangah doctor thurawn zawng rawh. |
| Hospital-a Emergency Treatment Unit (ETU)-ah kal nghal rawh... | |
| Lung natna lanchhuahna i lantir chuan. |
|
Nu leh pa i nih angin i hmangaihna, i thlawpna leh i dawhtheihna hi i fain chakna a pek theih ber a ni. Hêng naupangte hmangaihna leh inpawh tak mizia hian mi zawng zawng tân duhthusam a siam a ni.
Take-Home Thuchah a ni
- Williams syndrome hi chromosome 7 hmun thenkhat hloh avanga genetic condition awm lo tak a ni a, hei hi nu leh pa te tihsual vang a ni lo.
- Heng naupangte hi an inpawh thei hle a, hmangaihna nei tak an ni thei a, tawng thiamna tha tak an nei thei bawk.
- Ngaihtuahna pawimawh ber chu lung lam harsatna a nih avangin cardiologist-in a enkawl reng a pawimawh hle.
- He natna hi tihdam theih ni lo mah se, a natna lan chhuah dan chu enkawl theih a ni a, naupang chuan a tul anga enkawlna leh puihna nen nun tha tak a nei thei a ni.
- I fa chungchangah ngaihtuahna i neih chuan i doctor nen inhawng takin sawi rawh.











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