I naute chu ui ang maiin a tap em? Cri du Chat Syndrome chungchang hi i zir chiang ang u.

Nausen piang tharte chu a chang chuan mak deuh deuhin an tap thin tih i hre ngai em? Tin, naute thenkhat hmel lan dan leh an than dan pawh a danglam deuh ang tih pawh a awm bawk. Vawiin hian chutiang dinhmun tlemte, mahse hriat tur pawimawh tak pakhat kan sawi dawn a ni. Chu chu ‘Cri du Chat Syndrome’ an ti a.

Cri du Chat Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, cri du chat syndrome hi genetic condition hmuh tur awm lo tak a ni. Kan taksaa chromosome te tak te deletion avanga lo awm a ni. Engvangin nge ‘cri du chat’ an tih hi i ngaihtuah mai thei. French tawng a ni a, a awmzia chu ‘cry of a cat’ tihna a ni. He hming hi he natna vei naute’n an tap huna an ri chiang tak atanga lo chhuak a ni. Aw hniam tak, ri sang tak a ni a, kitten meowing ang mai a ni.

Hei hi ‘5p- syndrome’ (5p minus syndrome) an ti bawk. Eng nge a nih i hria em? Chumi awmzia chu chromosome number 5 kan nei tihna a ni a, ‘p’ an tih (chu chu kut te tak te) tih hi ka sawi tak part bo a ni. He '5p-' syndrome hian mi tinte a nghawng dan hi a inang lo thei hle. Chu chu, chromosome piece bo lian leh te leh a bo awmna hmun a zirin mi thenkhat chuan symptoms tam zawk emaw tlem emaw an nei thei tihna a ni. He piece hi naute thenkhatah a bo nasa hle a nih chuan a symptoms chu a na deuh mai thei.

Hetiang cri du chat dinhmun hi engtiang chiahin nge a awm?

Dik tak chuan Cree du Chat syndrome hi a awm lo hle . Mahse, chromosomal abnormalities avanga natna report tam zawk zinga mi a ni. America ang ramah hian nau piang thar 15,000 atanga 50,000 zingah naute pakhat vel chu hetiang natna nei hian an piang thin tih han ngaihtuah teh. Chu chu kum khatah naute 50 atanga 60 vel an awm tihna a ni. Chuvangin, Sri Lanka-ah pawh hetiang dinhmun hi hmuhchhuah theihna chance a awm.

Cri du chat syndrome natna lan chhuah dan chu engte nge ni?

Hetiang natna lan chhuah dan hi a inang lo thei hle a, ka sawi tawh ang khan. Mahse, a lan chhuah dan ber leh langsar ber chu chu au thawm danglam tak, hniam, aw sang tak chu a ni. Ui tap ang mai a ni. He aw hi pian hnu kar hmasa berah hian chiang takin hriat theih a ni. Mahse, naute a lo upat deuh deuh chuan he aw danglamna hi a langsar lo thei hle.

Chu bakah, i naute chuan heng hmel danglam tak takte hi a hmu thei bawk :

• Lu lian zawng pangngai aia te zawk (microcephaly).
• Hmai round danglam tak.
• Hnar zau tak.
• Mit inkar hlat zawng hi a pangngai aia tam (hypertelorism) a ni.
• Mit inzawm (strabismus) a ni.
• Mitmeng chu hnuai lam hawiin a ben (palpebral fissures).
• Mit chhung lam kil (monlid eyes)-ah vun extra fold neih.
• Beng hi a pangngai aia hniam zawkah a awm a.
• A tlangpuiin jaw te tak te (micrognathia).
• A hmui chunglam leh hnar inkarA tlangpuiin philtrum tawi.

Naute a lo puitlin chuan a hmai a khatna chu a tlahniam thei a, a hmai chu a danglamin a sei leh a zim thei bawk.

Symptom dang hmuh theihte chu:

• Nau piang rit lo.
• Growth tihkhawtlai a ni.
• Chaw pek harsatna. Entirnan, hnute pek theih lohna, ei harsa (dysphagia), leh reflux esophagitis (GERD).
• Muscle chak lohna (hypotonia).
• Scoliosis natna (Scoliosis) a ni.
• Lung lam chhiatna.
• Lu control, thut, leh kea kal ang chi hmasawnna atana thil pawimawh tak takte tihkhawtlai.
• Thusawi leh tawng thiamna lama tlai.
• Thil hriatna lama harsatna lian tham (moderate to severe intellectual disability) .

A pawimawh ber chu naute zawng zawng hian heng mizia zawng zawng hi an nei vek dawn lo tih hi a ni. Naute thenkhat chuan tlemte chauh an nei thei.

Engvangin nge he cri du chat syndrome hi a lo awm?

Cree du Chat syndrome hi chromosomal disorder a ni tih ka sawi a . Chromosome number 5-a kut tawi (p arm) piece pakhat deletion avanga lo awm a ni a, a tam zawkah chuan he chromosome piece hloh hi random takin a thleng thin. Chu chu, nu emaw, pa emaw reproductive cells (i.e. egg emaw sperm emaw) a lo awm hian emaw, nausen pian tirh lai emaw hian a thleng mai mai tihna a ni. Random ‘deletion’ avanga hetiang natna nei naute hian nu leh pa pahnih atanga chromosome pangngai a nei thei a ni. Chu chu nu leh pa pahnih atanga rochun a ni lo tihna a ni a, a tam zawkah chuan.

Chuti a nih chuan hei hi nu leh pa hnen atanga rochun a ni lo maw?

A tam zawkah chuan (100 zinga 90 vel) Cree du Chat syndrome hi thlahtute atanga lo chhuak a ni lo. Chuvangin dominant emaw recessive emaw anga classified theih a ni lo. Hetiang 5p- natna nei naupangte hian chhungkaw history-ah natna hi an nei lo tlangpui.

Mahse, naupang za zela tlemte (10%) chuan he chromosomal abnormality hi nu leh pa nghawng nei lo hnen atangin an rochun thin. Hetiang thil hi engtin nge a lo awm tih i hria em? Chu nu leh pa chuan an chromosome-ah ‘balanced translocation’ an tih thil a nei mai thei. Chu chu nu leh pa thlahtute genetic material hloh emaw, tihpun emaw a awm lo tihna a ni. Chuvangin, chu nu leh pate chuan hriselna lama harsatna an nei lo tlangpui. Mahse, he ‘balanced translocation’ hi naupangin a rochun chuan ‘unbalanced’ a ni thei. Chu chu naupangin he natna hi a neih theihna hun a ni.

Engtin nge cre du chat syndrome hi hriat theih?

A tlangpuiin i naute doctor-in a pian hnu lawkah a rawn hmu ang che.Hetiang dinhmun hi hriat theih a ni a, a chhan chu doctor hian a hmaa ka sawi tawh ang khan ui ang maia au thawm leh hmel danglam tak takte ang chi thil a enfiah thei a ni. Doctor chuan taksa enfiahna kimchang a nei ang a, naupang natna lan chhuah dan a zirchiang ang. A nihna takah chuan doctor chuan chromosomal test neih a rawt ang a, chu chuan a natna chu a finfiah ang.

Hemi atan hian eng test nge tih a nih?

Cree du Chat syndrome hi i fa doctor-in a hman theih tur genetic test chi thum a awm a, chungte chu:

• Karyotype test: Hei hi naute chromosome map siam nan hman a ni. Hei hi chromosome hmun thenkhat a bo leh bo loh hriat nan hman theih a ni.
• FISH testing: FISH hi ‘fluorescence in situ hybridization’ tihna a ni. He test hian naute cell-a genetic change bik emaw, gene fragment emaw a zawng thin.
• Chromosome microarray analysis: Microarray analysis hi genetic test a ni a, naupang DNA leh control group DNA nen khaikhin a ni. Chromosome pum pui, chromosome segment, leh chromosome-a hmun bik a deletion leh duplication te a hriat theih a ni.

Cre du chat hi tihdam theih a ni em?

Vanduaithlak takin cri du chat syndrome hi damdawi a awm lo. Mahse, a hmaa hriatchhuah leh a hmaa inrawlh hian i fa chu a theihna zawng zawng a thlen theih nan leh nun awmze nei tak a neih theih nan a pui thei a ni. Chu chu a pawimawh ber a ni.

Engtin nge cre du chat syndrome hi enkawl a nih?

Cri du chat syndrome enkawl dan hi naupang hrang hrangah a inang lo a, mi zawng zawng hian symptoms inang an nei vek lo. Enkawlna atan hian healthcare provider team atanga enkawl chhunzawm zel a ngai mai thei . Enkawlna hman tlanglawn ber chu rehabilitation a ni. Hei hian physical therapy, occupational therapy, leh speech therapy ang chi thilte a huam a ni.

Taksa lam enkawlna

I naute hian chaw pek harsatna (e.g., hnute emaw, ei emaw harsatna) a neih chuan a rang thei ang bera physical therapy i tan tur a ni. Physical therapy hian i naute chu taksa lama a thanlen theih nan a pui bawk. Chu chu an thut theih nan, an ding chhuak thei a, fine motor skills an neih theih nan a pui tihna a ni.

Occupational Therapy hmanga enkawlna (Occupational Therapy) a ni

Occupational therapy hian i fate chu nitin nunah an chhehvel khawvel nena inpawh tawnna atana an mamawh thiamna a neih theih nan a pui thin. Hei hian fine motor skills, mit hmuh thiamna, mahni in enkawl thiamna, leh hriatna lama thiamna tihhmasawn a huam thei a ni.

Thusawi hmanga enkawlna (Speech Therapy) a ni

Speech therapy hian naupang inbiakpawhna lama harsatna a neihte chu a pui a ni. Speech therapist te hian naupangte chu inbiak dan hrang hrang an zirtir thin. Entirnan, sign language , technology puihnaa inbiakpawhna, etc. Speech therapist te hian an naupan lai atang tawhin ei leh in lama harsatna an siam bawk.

Heng enkawlna bakah hian i fa doctor chuan natna hrang hrangah zai a rawt thei bawk. Entirnan, operation hian congenital heart defects, strabismus, leh scoliosis te ang chi natna te chu a siam tha thei a ni.

Cre du chat hi a veng thei ang em?

Cri du chat syndrome hi genetic condition a nih avangin kan veng thei lo. Mahse, fa i beisei a nih chuan i doctor nen genetic counseling chungchang sawipui a tha ang . Genetic counseling hian i fain genetic disorder a neih theihna tur a hriatthiam theih nan a pui thei che a ni.

Naupang cri du chat nei dam chhung hi engzat nge ni ang?

Cree du Chat syndrome vei naupang tam zawkte thlirna hi a buaithlak deuh a, a danglam thei bawk. Chromosome 5-a a bo awmna hmun leh a awmna hmun hi naupang hmalam hun tur tichiangtu lian tak a ni. I fa hian taksa leh rilru lama harsatna engemaw zat a nei thei a. Mahse, Cree du Chat vei naupang tam zawk chuan dam rei zawng pangngai an nei.

Amaherawhchu, nausen \henkhat chu hriselna lama harsatna neiin an piang a, chu chu nunna atana hlauhawm tak a ni. Chutiang naute zinga 75% vel chu an dam chhung thla khat chhungin an thi thin. Thihna hi kum khatna chhungin 90% vel a ni. Amaherawhchu, thihna rate hi a dam kum hmasa ber hnuah a tlahniam zel a ni.

When looking at the future of a child’s illness , thil pawimawh ber pakhat chu a hmaa hriat chhuah hi a ni. Hei hian a tul anga enkawlna leh enkawlna te chu a rang thei ang bera tan theih a ni a, naupang chu a hlawhtlin theih nan a pui bawk.

I fa hian genetic condition hmuh tur awm lo tak a nei tih hriat chu a buaithlak thei hle. Mahse, chu dinhmun hriat chuan thununna engemaw chen a pe thei che a ni. Cre du Chat syndrome hi natna chi hrang hrang nei a ni. A hmaa hriat chhuah leh enkawlna \ha tak i neih chuan i fate chu a rah chhuah \ha ber i pe thei ang. I theih ang angin he natna chungchang hi zir la, i tanpui tur support group zawng rawh. A hmaa inrawlh leh enkawl chhunzawm zel chuan i fa chuan a theihna zawng zawng a hlen chhuak thei a ni.

A tawp berah chuan thil hriat reng tur

Cri du Chat Syndrome hi a mak deuhin a lang thei a, mahse hriat reng a pawimawh.

• Hei hi chromosome number 5 piece bo avanga lo awm , genetic condition hmuh tur awm lo tak a ni.
• A nihna ber chu ui ang maia au thawm danglam tak hi a ni.Chutih rual chuan hmai lam thil bik leh hmasawnna tihkhawtlai te pawh hmuh tur a awm bawk.
• Hei hi thil thleng mai mai a ni fo va, nu leh pate rochun thil a ni lo.
• Hei hi damdawi awm lo mah se, a hmaa hriatchhuah leh enkawl, taksa, hnathawh leh thusawi hmanga enkawlna te hian naupang nunphung chu nasa takin a tichangtlung thei a ni.
• Nangmah chauh i ni lo. Doctor, therapist, leh chutiang thil tawn tawh nu leh pa dangte hnen aṭangin ṭanpuina dawng rawh .

Naupang tin hi an hlu vek a, an theihna tihhmasawn nan i pui vek ang u.

` Cri du Chat Syndrome, genetic diseases, chromosomes, 5p minus, ui tap, hmasawnna tlai, taksa enkawlna, tawngkam enkawlna