Rett Syndrome hi eng nge ni? A awlsam zawngin sawi ila.

I fanu te hmasawnna tur hi tlem i ngaihtuah em? A tlan kual vel a, a inkhel a, a tawng nasa hle bawk a, rang takin a tlan chak lo ang maiin a lang em? Nu emaw pa emaw hian hetiang thil i hmuh hian hlauhna leh lungkhamna a neih hi thil pangngai tak a ni. Vawiin hian chutiang dinhmun pakhat chu kan sawi dawn a ni. Hei hi Rett Syndrome an ti a. Hei hi thil awm lo tak a ni a, hmeichhe naupang a nghawng tam ber. Lungngai suh, engkim hi chiang tak leh awlsam takin sawi ila.

Rett syndrome awm chhan dik tak chu eng nge ni?

A awlsam zawngin sawi ila, Rett syndrome hi genetic problem avanga lo awm a ni. Kan taksaa cell tin hian chromosome an tih hi an nei vek a. Naupang hmeichhia hian X chromosome pahnih (XX) a nei a. He X chromosome-a MECP2 an tih gene-a inthlak danglamna, a nih loh leh mutation hi Rett syndrome thlentu ber a ni.

Scientist te chuan MECP2 gene hian thluak thanna kawngah hmun pawimawh tak a chang niin an ngai. He gene-ah hian chhiatna a awm chuan naupang thluak hmasawnna chu direct-in a nghawng a ni. Chu chu thusawi, kal, leh ke leh ke hman ang chi thilte nghawngtu chu a ni.

Hetiang dinhmun hi a dik tih finfiah nan hian genetic test pawh tih theih a ni. Hei hi thisen sample hmanga tih a ni tlangpui. I doctor chuan a tul chuan he test atan hian a refer ang che.

Rett syndrome leh autism hi eng nge an danglamna?

A lan chhuah dan thenkhat chu a inang vek avangin heng dinhmun pahnih hi a chang chuan a inhmeh lo thei hle. Heng pahnihah hian naupang hian khawtlang nun leh inbiakpawhna kawngah harsatna a tawk a ni. Mahse, danglamna chiang tak a awm.

Hetiang dinhmun hian mipa naupangte chu engtin nge a nghawng?

Hei hi a tlem hle. Naupang mipa hian X chromosome (XY) pakhat chauh a neih avangin, chu X chromosome pakhata MECP2 gene chu a chhiat chuan a nghawng chu a na hle. A tam zawkah chuan chutiang naupang mipa chu an pian tirh emaw, an pian hnu rei vak lovah emaw an thi thin.

Rett syndrome natna lan chhuah dan chu engte nge ni?

Heng symptoms te hi naupang hrang hrangah a inang lo thei. Naupang dam chhung thla 6-18 chhungin an lo lang tlangpui.Heng symptoms te hi puitlin lai hian a lo lang tan thin. Naupang chu a tir lamah chuan a lo thanglian dan pangngai angin lang mahse, inthlak danglamna chu zawi zawiin emaw, rang takin emaw a thleng thei a ni.

A lan chhuah dan tlangpui thenkhat chu hetiang hi a ni:

• Slowed growth: Naute thluak hi a lo thanglian tha lo a, chu chuan a lu a ti tlem a ni. Doctor te chuan hei hi microcephaly an ti a .
• Kut hnathawh hloh: Naupang infiamna chelh thiam leh kut hmanga thil tih thiam thin chuan chu theihna chu a hloh ta a ni. Chu ai chuan a chetna ang chiah chu a ti chhunzawm zel a, chu chu a kut inhnim hnawih leh kut sil ang chi te hi a ni.
• Thusawi hloh: Naupang kum 1 leh kum 4 inkar a tawng thin chuan a tawng a chawlhsan thut mai a.
• Kal leh chetna lama harsatna: Muscle leh balance lama harsatna avangin kea kal dan pangngai lo a awm thei. I kal thei lo tak tak pawh a ni thei.
• Thâwk lama harsatna: Thâwk rang chhunzawm zel ( hyperventilation ) leh thawk hahdamna hmuh tur a awm thei.
• Seizures: Rett syndrome vei naupang tam tak chuan an dam chhungin engtik lai pawhin seizures an nei thin.
• Symptom dang: I nungchang inthlak danglamna te pawh i hmu thei a, chu chu scoliosis , mit che dan pangngai lo, mut harsatna , ha hrual, leh thinrim emaw, tap fo emaw te hi a ni.

Rett syndrome natna stage pali te hi a ni

He natna hi a tlangpuiin stage pali kaltlangin a kal zel a, mahse naupang zawng zawng hi a nghawng dan inang lo.

Hei hi eng enkawlna nge ni?

Vanduaithlak takin Rett syndrome hi damdawi a la awm lo. Mahse, natna lan chhuah dan control thei tur leh i fate nunphung tha ber pe thei tur enkawlna tam tak a awm. Hei hi team thawhrimna a ni. I doctor, physical therapist leh speech therapist te pawh an tel vek a ni.

• Damdawi: Damdawi hi epilepsy, muscle spasms, leh mut harsatna te control nan pek thin a ni. Tun hnaiah damdawi thar trofinetide (Daybue) tih chu pawm a ni a, a natna lanchhuahna thenkhat chu a thunun thei a ni. Hemi chungchang hi i doctor nen sawiho rawh.
• Physical Therapy: Hei hian naupang chetna, balance leh kal theihna a tichak a. Spinal alignment atan pawh a pawimawh hle.
• Occupational Therapy: Hei hian naupang kut in nitin hna a thawh theihna tur, incheina leh ei leh in te chu a tichak a ni.
• Speech Therapy: Naupangin a tawng thei lo a nih pawhin kawng dang, mit leh thlalak hmanga sawi chhuah dan tur zirtir an ni.
• Ei leh in tha: Naupang thanlenna atan ei leh in inthlau tak hi a pawimawh hle. I fain a ei harsat chuan hemi chungchangah hian doctor rawn tur a ni.

Rett syndrome nei naupang enkawl hi thil harsa tak a ni. Mahse, nangmah chauh i ni lo tih hre reng ang che. I fa mamawh puihna pe thei tur pawl leh nu leh pa puihna pawl an awm a. Anmahni nena inzawmna siam hi chakna nasa tak a ni thei.