I fa hian heng mize bikte hi a nei em? Williams Syndrome chungchang hi han sawi ila

I naupang tê chu a sociable hle em? A hmuh apiangte chu a nuihzat a, a biak thin em, mak tak maiin a inngaitlawm em? Naupang dangte aiin a hmel danglam deuh, a danglam deuh tih i hre tawh mai thei. Heng thilte rual hian naupang hmasawnna lama harsatna tlem leh thinlung lama harsatna te pawh a awm a nih chuan, a chhan ni thei tur genetic condition hmuh tur awm lo tak kan sawi a ni. He thu i chhiar zawh hian hlau suh. He thu hian he thu hi hriatthiamna tha zawk i neih theih nan a pui ang che.

Williams Syndrome hi eng nge ni?

A awlsam zawngin, Williams Syndrome (WS) hi genetic condition hmuh tur awm lo tak a ni . Kan genes inthlak danglamna tenau lutuk avanga lo awm a ni. Hetiang natna nei naupang hian taksa peng hrang hrangah harsatna a nei thei a, a bik takin taksa peng hrang hrang, thisen kalna kawng, thinlung leh kal (kidney)-ah te harsatna a nei thei a ni. Hmai danglam bik, zirlai lama harsatna leh mize danglam bik an nei bawk.

Down Syndrome leh Williams Syndrome inthlauhna

An pahnih hian genetic condition an ni. An pahnih hian thinlung leh nervous system-ah harsatna an thlen thei a ni. Mahse an pahnih chhan erawh a inang lo. Down syndrome hi kan taksa cell-a chromosome an tih thil pakhat extra copy avanga lo awm a ni. Williams syndrome hi chromosome hmun tlemte a bo vang a ni .

Williams syndrome hi eng thilin nge a thlen?

Kan taksa hi zirtirna bu lian tak angin han ngaihtuah teh. He lehkhabu phek hi chromosome an ti a. Kan cell tinah hian chutiang phek 46 (pair 23) a awm a. He lehkhabu phek sarihna (Chromosome 7)-ah hian kan taksa siam dan tur thupek langsar tak tak a inziak a ni.

Williams syndrome vei naute chu he phek sarihnaa section tlemte awm lovin a piang a, chutah chuan gene 25 emaw 27 vel a awm a ni. Instruction book-a phek tlemte chu hrual chhuah ang mai a ni. Naupangin a lan chhuah dan chu chu gene bo zingah eng gene nge awm tih ah a innghat a ni. Entirnan, `ELN` an tih gene a awm loh chuan thinlung leh thisen kalna kawngah harsatna a thlen thei a ni.

Hei hi nu leh pa sualna a ni lo. A tam zawkah chuan sperm emaw egg emaw lo piang chhuak random change avanga lo awm a ni. Chu chu, random tak a ni vek tihna a ni . A tlem hle a, nu leh pa zinga pakhatin hetiang natna hi a neih chuan naupang pawhin a rochun thei bawk.

Hei hi engtiang chiahin nge a hluar?

Hei hi thil awm lo tak a ni. Mi 7,500 atanga 10,000 zinga pakhat vel a vei tlangpui.

Heng symptoms te hi engte nge ni?

Williams syndrome vei naupang zawng zawng hi an inang vek lo. Ṭhenkhatin symptom tlemte an nei thei a, ṭhenkhat erawh chuan tam tak an nei thei thung. Tin, an nasat dan pawh a inang lo thei bawk. A lan chhuah dan bulpui te han thlir ila.

Zirna danglamna

Williams syndrome vei naupang 75% vel chuan rilru lama harsatna (mild intellectual disability) an nei thei a ni. Hei hian zirlai harsatna a thlen thei a ni. Kawng lehlamah chuan heng naupangte hian hriatrengna mak tak tak an nei a . Ṭawng leh thusawi thiamna te, lehkha chhiar thiamna te, a bîk takin music lama thiamna ropui tak tak an nei thei bawk .

Engtin nge diagnosis hi siam a nih?

I doctor chuan i fa chu a enfiah hmasa ang a, an chhungkaw damdawi lam chanchin a zawt ang a, an hmela thil danglam bik awm apiang chu a ngaihven ang.

Williams syndrome nia rinhlelh a nih chuan thisen test tir tura tih theih a ni a, chu chu finfiah theih a ni. Chumi atana hmanraw lian pahnih a awm a, chungte chu:

1. FISH test (Fluorescence in situ hybridization): He test hian chromosome 7-a gene bo `ELN` chu direct-in a zawng a, Williams syndrome vei tam zawk chuan he gene hi an nei lo.

2. Chromosome microarray: Hei hi tunlai zawk leh hman lar zawk test a ni. Naute chromosome zawng zawng a en a, DNA hmun eng emaw zat a bo leh awm loh a en thin. Eng gene nge awm lo tih pawh a chiang thei a, chu chuan doctor hnenah nautein a natna lan chhuah dan tur a hriat chian phah a ni.

Hei bakah hian naupang taksa chhungril dinhmun hriat chian nan test dang neih belh tura tih a ni thei bawk.

• EKG emaw Ultrasound scan hmanga lung lam harsatna nei leh awm loh enfiah a ni.
• Ultrasound scan hmanga kal leh zunthlum dinhmun enfiah a ni.
• Thisen emaw zun emaw a calcium awm zat enfiah.

Engtin nge enkawl a nih?

Kan sawi tawh ang khan he natna hi a dam kim thei lo. Mahse, enkawlna hian a natna lan chhuah dan a enkawl thei a, naupang chu nun tha tak a neih theih nan a pui thei bawk. Hei hian specialist hrang hrangte puihna a ngai a ni.

• Cardiologist: Lung lam harsatna nei tan.
• Endocrinologist: Hormone leh calcium level nena inzawm harsatna nei tan.
• Ear, Nose and Throat Specialist (ENT Surgeon): Beng natna nei tan chuan.
• Physical therapist: Taksa chetna leh thau chakna tihchangtlun nan.
• Speech and language therapist: Thusawi leh tawng thiamna tihchangtlun nan.

Enkawlnaah hian thisen calcium level tihhniam thei ei leh in te, thisen sang damdawi te, special education programme te, leh a tul chuan vascular emaw heart surgery te a tel thei a ni. Heng zawng zawng hi i doctor in a ruat vek a ni .

Nu leh pa angin eng nge i tih theih?

I fain Williams syndrome a vei tih i hriat chuan i rilru a hah lutuk hi thil pangngai a ni. Mahse heng thudikte hian a pui ang che.

• I fate chu hmangaihna tam tak pe rawh: An theihna leh an tlan chak dan azirin khawvel hi chhui chhuak rawh se.
• Doctor-te nena inzawmna nei reng rawh: I fa hriselna enfiah turin medical checkup neih fo ang che.
• Sikul-ah ṭanpuina dang zawng rawh: I fate zirna atâna ruahmanna bik mamawh chungchâng chu sikul zirtîrtute leh principal-te nên sawiho rawh.
• Hriat tur: He dinhmun hi i theih ang tawkin zir la, chutiang chuan i fate tan dik takin i advocate thei ang.
• Midang nena inzawmna siam: Hetiang fa nei nu leh pa dangte nen inbiakna neihpui rawh. I doctor hnenah support group chungchang zawt rawh.
• Nangmah pawh ngaihtuah la: I naute i enkawl lai hian i rilru leh taksa hriselna kha uluk takin enkawl ang che. I chau nia i hriat chuan tanpuina dil hreh suh.