Nu leh pa i nih angin i fa chu fa dangte nen tlem a danglam deuh niin i inhriat ngai em? Thusawi a tlai deuh a ni mai thei, a nih loh leh thil thar zir nan hun rei vak lo a hmang mai thei bawk. Hei hi chhan tam tak a awm thei. Mahse vawiin hian hetiang dinhmun thlen thei, mahse kan khawtlang nunah sawi tam loh, special genetic condition kan sawi dawn a ni. Chu chu Fragile X Syndrome a ni .
A awlsam zawngin, Fragile X Syndrome hi eng nge ni?
Hei hi genetic condition a ni. Chumi awmzia chu thlah khat atanga thlah dangah a kal zel tihna a ni. Hetiang dinhmun hian naupang zirlai, nungchang, hmel lan dan leh hriselna zawng zawng a nghawng thei a ni. Naupang thenkhat chuan symptoms na lo tak tak an nei thei a, thenkhat erawh chu a na zawk thei bawk. A tlangpuiin, hmeichhia aiin mipa naupangte chu an tuar nasa zawk .
Hetiang natna neia piang naupangte hian hmasawnna lama harsatna an nei thei a, chu chu zirlai lama harsatna leh rilru lama harsatna te a ni. Mahse, lungngai suh. Enkawlna dik tak, zirna bik, leh therapies te an neih chuan heng naupangte hian an theihna zawng zawngin an zir thei a, an lo thanglian thei bawk.
Hetiang natna lan chhuah dan hi engte nge ni?
Fragile X vei naupang hian symptom hrang hrang a nei thei a. A lan chhuah dan thenkhat chu nungchang lam a ni a, thenkhat erawh taksa lam a ni thung. Hengte hi a hranin han thlir ila.
| Mihring ziarang chi khat | Thil langsar tak tak hmuh tur awm |
|---|---|
| Zirna leh nungchang lama harsatna a awm |
|
| Taksa lama hmuh theih mizia |
A pawimawh ber chu heng symptoms zawng zawng hi naupang tinah a awm vek lo. Tin, heng symptoms te hi neih mai mai hian naupangin Fragile X a nei tihna a ni lo va , dik taka hriat theih nan doctor pan a pawimawh hle bawk.
Fragile X leh autism inzawmna
Heng dinhmun pahnih hi inzawmna a awm a ni. Fragile X vei naupang 40% vel chuan autism an nei thei bawk. Tin, naupang 80% vel chuan ngaihtuahna lama harsatna an nei thei a, chu chu `ADD` emaw `ADHD` emaw a ni thei bawk.
Engtin nge he dinhmun hi thlah kal zelah a lo awm zel?
Hei hi a buaithlak deuh a, mahse awlsam takin ka sawifiah ang.
I hriat angin kan taksaa thil awm zawng zawng hi gene-in a thunun vek a ni. Hetiang dinhmun hi FMR1 an tih gene a mutation vang a ni. He gene hi X chromosome ah a awm a . He FMR1 gene siam protein hi thluaka nerve cell te inbiakpawhna atan a pawimawh hle. He protein hi naupang thluak tha taka a thanlen theih nan a tul a ni.
Fragile X vei naupangte hian an taksaah he protein hi an siam tlem hle emaw, an siam chhuak lo emaw a ni.
Ngaihtuah teh, he FMR1 gene-ah hian ‘CGG’ tih hi a awm a. Mi hrisel takah chuan he part hi vawi 5 atanga vawi 40 chauh tih nawn leh a ni. Mahse Fragile X nei naupangah chuan he part hi vawi 200 chuang a repeat leh thin . Hetiang repetition hi a lo awm tam poh leh a symptoms chu a na zual thei a ni.
Hei hi tu atanga lo kal nge naupang hnenah?
- Nu hnen atangin: Nu chu he FMR1 gene danglam tak kengtu a nih chuan a fa (mipa emaw hmeichhia emaw) hian he natna hi a vei theihna chance 50% a nei a ni.
- Pa hnen atangin: Pain he gene hi a neih chuan hmeichhia fate chauhvin an rochun ang. Naupang mipa hian he gene hi an rochun lo a, a chhan chu an pa hnen atanga Y chromosome an dawn vang a ni.
Hei vang hian mipa naupangte chu he natna hian a tuar nasa zawk a ni. Hmeichhia hian X chromosome pahnih an neih avangin pakhatin harsatna nei mahse, X chromosome hrisel dang chuan eng emaw chen chu a chhiatna chu a thunun thei a ni.
Diagnosis leh enkawl dan
Risk factors control theih a awm lo. A hlauhawm ber chu chhungkaw history-a he natna hi a ni. Chuvangin, i chhungkuaa mi pakhatin zirlai harsatna emaw autism emaw a neih tawh chuan fa i neih hmain i doctor nen genetic counseling lak chungchang i sawipui duh mai thei.
Engtin nge natna hi kan hriat theih ang?
- Naupai lai: Hei hi naute pian hma pawhin test theih a ni. FMR1 gene mutation hi a awm em tih hriat nan amniocentesis (nausen pum chhunga amniotic fluid enfiah) emaw chorionic villus sampling (CVS) (nausen pian thenkhat enfiah) emaw an tih test te hman theih a ni.
- Pian hnu: He natna hi naute pian hnua thisen test awlsam tak hmanga hriat theih a ni.
Enkawlnate chu engte nge ni?
Pakhatnaah chuan Fragile X hi damdawi a la awm lo tih hre reng ang che. Mahse, natna lan chhuah dan enkawltu tur leh naupang nun tha zawk nei tura pui thei tur enkawlna tam tak a awm. Heng enkawlnate hi tan hma chuan a rah a tha zawk thin.
| Enkawl dan leh enkawl dan tur | |
|---|---|
| Therapy hmanga enkawl a ni |
|
| Zirna leh boruak | |
| Damdawi chi hrang hrang | Doctor chuan seizures, attention deficit hyperactivity disorder (ADHD), lungkhamna, leh depression ang chi natna control nan damdawi a pe thei a ni. Damdawi lam thurawn tel lo chuan i fa hnenah damdawi engmah pe suh. |
Puitling lai dinhmun chu engtin nge a awm?
Fragile X hi dam chhung zawnga natna a ni. Amaherawhchu, \anpuina leh inenkawlna dik tak a awm chuan mi tam tak chuan nun hlawhtling tak an hmang \hin. Hmeichhia hmun thuma ṭhena hmun khat vel chu mahni inrintawkna neiin an khawsa thei a ni. Mipa hian tanpuina tam zawk an mamawh tlangpui.
Hetiang dinhmun hian an dam chhung a ti tawi lo. Mi hrisel tak ang bawka dam rei zawng an nei. A pawimawh ber chu an theihnate hrechiang a, chumi ang zela fuih hi a ni.
Take-Home Thuchah a ni
- Fragile X syndrome hi genetic condition a ni a, thlah kal zelah a lo kal zel a ni. Tu sual vang a ni lo.
- Hei hian mipa naupang a nghawng nasa zawk tlangpui.
- Zirna lama harsatna te, thusawi tlai te, nungchang lama harsatna te, leh taksa lama natna lanchhuahna thenkhat te pawh a huam thei.
- Natna hi hriat hmasak a, naupang tan enkawlna dik (speech, occupational, behavioral therapy) tan a pawimawh hle.
- Hei hi damdawi famkim awm lo mah se, enkawl dan dik leh hmangaihna nena tanpuina a awm chuan naupang chu awmze nei tak leh hlim taka nunpui turin tanpui theih a ni.
- I fate than chhoh dan tur ngaihtuah tur i neih chuan i pediatrician (doctor) nen inbia ang che.
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