Fragile X Syndrome hi eng nge ni? Nu leh pate hriat tur chu

I fate chu naupang dangte aiin a tlai deuhin a sawi emaw, a kal emaw a ni em? Hmun khata awm a harsat em? A chang chuan mak tak maiin a kut a vawrh thin em, a nih loh leh mitmengah a en nghal thei lo che em ni? Nu leh pa angin hetiang thil i hmuh hian hlauhna leh lungkhamna i neih hi thil pangngai tak a ni. Vawiin hian heng symptoms te thlen thei, mahse kan khawtlang nunah hian sawi tam loh, genetic condition kan sawi dawn a ni. Hei hi Fragile X Syndrome an ti a. A awlsam zawngin, mi zawng zawngin an hriatthiam theih tur angin sawi ila.

Fragile X Syndrome hi eng nge ni, a awlsam zawngin?

A awlsam zawngin, hei hi genetic condition a ni . Chu chu tu sualna emaw, ngaihsak lohna emaw avanga lo thleng a ni lo tihna a ni. Naupang pianpui thil a ni. Hetiang dinhmun hian naupang zirlai, nungchang, hmel lan dan leh a chang chuan hriselna thlengin a nghawng thei a ni.

Hetah hian hriat reng tur pawimawh tak chu hmeichhia aiin mipa naupangte hian he natna hi an tuar nasa zawk tlangpui tih hi a ni. Hemi chhan hi a hnuah kan sawi leh ang. Hetiang natna vei naupangte hian zirlai lama harsatna leh rilru lama hmasawnna lama harsatna an nei thei a ni. Mahse, heng naupangte hian an theihna zawng zawng chu enkawlna dik tak, zirna bik, leh therapy hmangin kan pui thei a ni .

Hetiang dinhmunah hian naupangin eng symptoms nge a lantir?

Fragile X vei naupang hian symptom hrang hrang a nei thei a. Naupang thenkhat chuan heng symptoms te hi a na lo hle thei a, thenkhat erawh chuan nasa takin an tuar thei thung. Heng symptoms te hi chiang zawka kan hriat theih nan he table hi han en ila.

Fragile X, Autism leh ADHD te hi eng nge inzawmna?

Hei pawh hi thil pawimawh tak a ni. Fragile X vei naupang tam tak chuan autism emaw ADHD (Attention Deficit Hyperactivity Disorder) ang chi natna an nei thei bawk.

• Fragile X vei naupang 40% vel pawhin autism an vei a rinawm bawk .
• Tin, 80% vel chuan ADHD emaw ADD (attention deficit hyperactivity disorder) emaw an nei thei bawk.

Naupangin Fragile X leh autism pahnih a neih chuan seizure, mut harsatna leh nungchang lama harsatna a nei tam zawk.

Engtin nge he natna hi a lo awm? Hrilhfiahna a ni em?

Ni e, hei hi thlah khat atanga thlah danga rochun genetic change avanga lo awm a ni. Hei hi tlem tal i hrethiam zawk ang u.

Kan taksaa X chromosome-ah hian `FMR1` tih gene a awm a. He gene hnathawh ber chu kan thluaka nerve cell te inbiakpawhna tha tak nei tura puitu special protein (FMR protein) siam a ni. He protein hi thluak hrisel taka thanlenna atan a pawimawh hle.

Fragile X vei naupangah chuan `FMR1` gene-a mutation awm hian he protein pawimawh tak hi a siam tlem hle emaw, a siam chhuak lo emaw a ni. Hei hian thluak hmasawnna leh hnathawh a tibuai a ni.

Engvangin nge tlangvalte hi an tuar nasa zawk?

Ngaihtuah teh, naupang hmeichhia hian X chromosome pahnih (XX) a nei a. Chuvangin X chromosome pakhata `FMR1` gene-ah chhiatna awm mahse, X chromosome hrisel dang chuan a chhiatna chu a khum fo thin. Chuvangin hmeichhe naupangte hian symptoms an nei tlem zawk emaw, a na lo hle emaw a ni.

Mahse naupang mipa chuan X chromosome pakhat leh Y chromosome pakhat (XY) a nei a. Chuvangin, chu X chromosome pakhata `FMR1` gene-ah chuan chhiatna a awm a nih chuan, chu chu rul turin X chromosome dang a awm lo. Chuvang chuan he natna lanchhuahna hi naupang mipaah ​​a na zawk a ni.

Nuin he gene chhia hi a neih chuan a fate zinga pakhat (hmeichhia emaw mipa emaw) hian a rochun theihna chance 50% a nei a ni. Pain he gene hi a neih chuan a fa hmeichhiate hnenah chauh a pe chhuak thei a ni.

Engtin nge he dinhmun hi kan hriat theih ang?

He natna hi genetic test hmang chauhvin chiang takin hriat theih a ni. Hei hian thisen test awlsam tak a huam a ni. He thisen sample hi `FMR1` gene-a mutation awm leh awm loh enfiah nan hman a ni.

Naupai lai pawhin naute hian he natna hi a nei em tih hriat nan test neih theih a ni.

• Amniocentesis: Nu pum atanga amniotic fluid tlemte lak a, test.
• Chorionic Villus Sampling (CVS): Nausen atanga cell sample te tak te lak a ni a, test a ni.

Heng test chungchangah hian thutlukna i siam hmain i doctor nen a thatna leh that lohna sawiho hmasak a pawimawh hle .

Naupang tanpui turin eng nge kan tih theih?

Hei hi genetic condition a nih avangin a tidam vek thei tur "magic bullet" a awm lo. Mahse naupang natna lan chhuah dan enkawl dan tur te, zir tura tanpui tur te, nun hlawhtling tak neih theihna tur kawng kan hawn theih nan thil tam tak kan tih theih a awm. Hetah hian a pawimawh ber chu a hma thei ang bera inrawlh (early intervention) hi a ni.

Chung naupangte hmalam hun chu eng ang nge ni ang?

Hei hi nu leh pa tan harsatna lian ber a ni. Fragile X hi nunna atana hlauhawm tak a ni lo. Hetiang natna vei dam rei zawng hi mi hrisel pangngai dam rei zawng nen a inang a ni.

Tanpuina leh zirtirna dik tak pek a nih chuan he natna vei tam tak hian nun hlawhtling leh hlim tak an nei thei a ni. Ṭhenkhat chuan puitlin thlengin ṭanpuina engemaw chen an mamawh mai thei. Mahse a tam zawk chu sikul kal thei te, lehkhabu chhiar te, thil thar zir te, hnathawh te, mahni chauha thil ti thei te an ni. A pawimawh ber chu naupang theihnate hrechiang a, chumi ang zela thlawp tlat hi a ni.