Rubinstein-Taybi Syndrome (RTS) hi eng nge ni? A awlsam zawngin i hrethiam ang u.

Nu emaw, pa emaw kan nih angin kan fa chungchanga thil tenawm tinreng hi kan ngaihtuah hle a ni lawm ni? A thanlen dan, a hmel lan dan, a nungchang... Heng zawng zawng hi kan ngaihven vek a ni. A châng chuan naupang pianhmangah inthlâk danglamna tê tê, entîr nân, ke ruh lian deuh deuh, a nih loh leh a ṭhan chhoh hun sawn tlai tê tê pawh kan hmuh hian kan hlauthawng deuh a ni. Chutiang hunah chuan genetic condition hmuh tur awm lo mahse pawimawh tak kan hriat a ngai a ni. Chu chu Rubinstein-Taybi Syndrome a ni.

Rubinstein-Taybi Syndrome (RTS) hi eng nge ni?

A awlsam zawngin sawi ila, Rubinstein-Taybi Syndrome hi genetic condition awm lo tak a ni a, taksa chhunga system engemaw zat a nghawng a ni. RTS tia tawifel a ni. Hetiang natna vei naupangte zingah hian a lan chhuah dan ber chu ke ruh lian leh ke ruh lian tak tak, a tlangpuiin a zau lo , hmel lan dan danglam tak tak thenkhat, leh hmasawnna tlai lutuk te hi a ni.

He natna hi kum 1957 khan an sawi hmasa ber a, mahse, kum 1963-ah chauh doctor pahnih, Dr. Jack Rubinstein leh Dr. Hooshang Taybi te chuan natna a nih thu chiang takin an hmuchhuak ta a ni. An hming hi he syndrome atan hian hman a ni.

RTS natna lan chhuahna berte chu engte nge ni?

RTS vei naupang zawng zawng hian heng symptom zawng zawng hi an nei vek dawn lo. Mahse, a lan chhuah dan tlangpui thenkhat a awm. Hengte hi hriatthiam awlsam chi hnih ah then ila.

Hmasawnna leh nungchang lama inthlak danglamna hmuh theih

Taksa lama natna lan chhuahna bakah hian RTS vei naupangte hian an thanlenna leh nungchangah tihkhawtlai leh inthlak danglamna engemaw zat an nei thei bawk.

Thiamna leh zirlai lama tlai lutuk

RTS vei naupangte hian naupang pangngai aiin rilru lama hmasawnna an nei slow zawk thei. Hetianga tihkhawtlai nasat dan hi naupang hrang hrangah a inang lo. Ṭhenkhat chuan tihkhawtlai tlem an nei thei a, ṭhenkhat erawh chuan tihkhawtlai nasa zawk an nei thei thung. Ngaihtuah thiamna te, thil thar zir te, leh buaina chinfelna kawngah te harsatna an nei thei a ni. Hei hi naupangin sikul a tan tirh hian a lang fo thin.

Taksa leh motor thiamna lama tlai

Heng naupangte hian taksa ruh (muscle tone) an nei tlem fo thin . Hei hian taksa tihchakna, rolling over, thut leh kea kal te a tikhawtlai thei a ni. Balance leh movement control lamah pawh harsatna an nei thei bawk.

Thusawi leh inbiakpawhna lama tlai

RTS vei naupang 90% vel chuan thusawi thiamna an tikhawtlai nasa hle. Chutiang chhinchhiahna hmasa ber pakhat chu ei leh in harsatna a ni thei , ei leh in leh thusawi hian ka leh lei ruhte inrem tha tak a mamawh avangin.

Hetiang dinhmun a lo awm chhan hi eng nge ni?

Hei hi genetic condition a nih thu an hrilh hian nu leh pa ṭhenkhat chuan hei hi an rochun thil a ni tih an hlau mai thei.

A tam zawkah chuan he natna hi naupang taksaa genetic mutation thar avanga lo awm a ni tih hriat a pawimawh hle. Chumi awmzia chu nu emaw, pa emaw atanga rochun a ni lo tihna a ni. Chuvangin, nupa hrisel tak, RTS vei naupang nei tan chuan an fa lo awm tur hian he natna hi a vei theihna chance chu 1% aia tlem a ni.

Mahse, a tlem hle a, nu leh pa pakhatin RTS natna a neih chuan naupangin gene a rochun theihna chance 50% a awm. Hei hi gene CREBBP leh EP300 inthlak danglamna vang a ni ber .

RTS dinhmun hi engtin nge kan hriat theih ang?

Vawi tam tak chu doctor chuan naupang taksa pianphung, a bîk takin ke ruh zau tak, hnuai lam hawia mit leh hmui chunglam sang tak te chu enfiahin he natna hi a hriat theih ang.

He diagnosis hi finfiah nan hian test dang pawh tih belh a ni fo bawk.

• X-ray: Kut leh ke ruh-a inthlak danglamna chiang tak zawng rawh.
• Brain scans: Thluak electrical activity enfiah thin.
• Genetic Testing: He test hi RTS nena inzawm genetic mutations a awm leh awm loh finfiah nan tih theih a ni. Mahse, RTS vei naupang thenkhat chuan test hmanga he genetic mutation hi an hmuchhuak lo mai thei.

Naupang thenkhat chu an pian tirh atangin hmuhchhuah theih a ni. Midang erawh chu a hnu deuh deuhin an hmuchhuak leh thin. A natna lan chhuah dan nasat danah a innghat.

Hei hi eng enkawlna nge ni?

A hmasa berah chuan RTS hi damdawi a awm lo a, mahse enkawl theih a ni a, naupang chuan an theihna tihhmasawn leh an natna lan chhuah dan enkawlin nun hlawhtling tak a nei thei a ni

Enkawl dan tur ruahmanna chu naupang natna lan chhuah dan azirin a ruat a ni. Hei hi team thawhrimna a ni.

Enkawl dan tlangpui thenkhat chu hetiang hi a ni:

• Regular monitoring: Naupang than dan chu special growth chart hmangin enfiah a ni. Tin, mit leh beng hi kum tin endik a ni bawk.
• Surgery: Kut zungtang leh ke ruhte a ben emaw, thinlung emaw kal emaw ang chi taksa peng hrang hrangah chhiatna a awm chuan siamthat nan operation neih a ngai mai thei.
• Therapies: Hei hi a pawimawh hle. Naupang hmasawnna tlai lo tur ven nan Speech Therapy, Physical Therapy, leh Behavioral Therapy ang chi thil hi a pawimawh hle.
• Special Education: Naupang chu an zirlai theihna ang zela special education programme-a hruai hian an rilru lama hmasawnna nasa takin a pui a ni.
• Genetic Counselling: Chhungkaw tinte chu an dinhmun, hmalak dan tur leh nakin lawka fate tana hlauhawm awm thei turte hriatthiamna chiang tak neih theih nan genetic counselling hi a pawimawh hle.

A pawimawh ber chu nangmah, nu leh pa angin, i fa dinhmun hriat chian a, i fa enkawltu medical team te nena thawhhona tha tak neih hi a ni.