I fate hmasawnna tur i ngaihtuah em? Lamb-Shaffer Syndrome chungchang hi i zir dawn teh ang!

I fate chu an hmasawnna kawngah tlem a hnufual deuh niin i inhria fo thin em? A nih loh leh thusawi tan an tlai deuh i ring em? A châng chuan, nu leh pa kan nih angin hetiang thil kan hmuh hian kan lungkham deuh hi thil pangngai a ni. Vawiin hian heng symptoms thenkhat lantir thei genetic condition hmuh tur awm lo tak tak kan sawi dawn a ni. Lamb-Shaffer Syndrome tih a ni.

Lamb-Shaffer Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Lamb-Shaffer Syndrome (LAMSHF) hi genetic condition hmuh tur awm lo tak a ni. 'Genetic' tih thumal i hriat hian, "Aw, hei hi chhungkuaa kal zel thil a ni em?" Chumi chungchang chu han sawi hmasa ila. Hetiang dinhmun hian naupang hmasawnna a tikhawtlai thei a ni. Chumi awmzia chu naute chu a thut a, a kal theih nan hun rei tak a ngai tihna a ni. Thusawi dik lo leh rilru lama harsatna a thlen thei bawk. Naupang thenkhat pawh hian nungchang inang lo an nei thei bawk . Entirnan, an hyperactive deuh emaw, ngaihven harsa an ti emaw a ni thei. Chu mai pawh ni lovin, a chang chuan hmai pianziaah inthlak danglamna tlem emaw, ruhroah pawh inthlak danglamna engemaw zat emaw pawh i hmu thei bawk. Mahse, heng mizia zawng zawng hi naupang tinah a awm vek lo va, naupang pakhatah a inang lo thei bawk.

Hei hi kum 2012-a he natna hmuchhuak hmasa bertu zirchiangtu pahnih hming chawia ‘Lamb-Shafer’ tih a ni a, chuta tang chuan he thupui chungchangah hian zirchianna leh thu belhchian dawl zawk neih a ni ta a ni.

Mahse, hei hi engtiang chiahin nge a awm tih i zawt a nih chuan, a takah chuan doctor-te tan chuan chiang taka sawi a harsa hle. A chhan chu a tlem hle a ni . Tun thlengin khawvel pumah medical record-ah hetiang chi hi 100 aia tlem lo record a ni. Chuvangin he thu hi i la hre lo a nih chuan thil mak a ni lo.

Eng thilin nge he dinhmun hi a thlen? (SOX5 gene chungchang hi i zir dawn nia)

Okay, chuvangin he Lamb-Schafer Syndrome (LAMSHF) hi engvangin nge a lo awm tih hi han en ila. Ka sawi tawh ang khan hei hi genetic disorder a ni . Kan taksa cell tinah hian genes a awm vek a. Heng genes te hi kan san zawng, kan rawng leh kan sam awm dan tur tichiangtu an ni mai lo va, kan taksaa hnathawh hrang hrang control turin an pui bawk. Computer chhunga program awm ang mai a ni.

Lamb-Schafer syndrome hi kan taksaa gene bik pakhat a inthlak (mutation) avanga lo awm a ni. He gene hi `SOX5` gene an ti a ni. A tlangpuiin mi hrisel chuan he `SOX5` gene hi an taksaah copy hnih a nei a, an pahnih hian hna an thawk tha hle. Mahse, Lamb-Schafer syndrome vei chuan he `SOX5` gene copy khatah hian pathogenic variant a nei a., chu chu inthlak danglamna hlauhawm tak a awm tihna a ni. Copy dang chu a pangngai a nih pawhin he gene pakhat a inthlak avang hian a symptoms a lang thin.

`SOX5` gene hi kan taksaa protein siam chhuahna (protein synthesis) leh cell chi hrang hrang, a bik takin thluak leh taksaa thanlenna control-na atana puitu gene pawimawh tak a ni Chuvangin he gene-ah hian chhiatna a awm chuan a kaihhnawih kalphungte chu a nghawng thei a ni. Hrethiam e?

De Novo Mutations leh An Rochun Dan

Tunah chuan, "Hei hi i nu leh pa hnen atanga i dawn thil a ni em?" A tam zawkah chuan, chu chu Lamb-Schafer syndrome nei naupang tam zawk chuan mutation thar (de novo mutation) avang hian he natna hi an nei thin tihna a ni. ‘De novo’ tih awmzia chu ‘thar’ tihna a ni. A awlsam zawngin sawi ila, nu leh pa pahnih hian an taksa cell-ah `SOX5` gene copy hrisel tak tak an nei thei a ni. Mahse, nau pai lai hian `SOX5` gene-ah hian sperm emaw egg emaw-ah hian a thleng thei a ni. Hei hi tumah sual a ni lo. Hei hi thil thleng mai mai a ni.

Mahse, naupang tlemte (15%) vel , 100 zinga 15 vel chuan he natna hi an nei a, a chhan chu nu leh pa zinga pakhat germ cell (sperm emaw egg emaw) zinga tlemte chauhvin SOX5 gene mutation an nei a ni. Chumi awmzia chu nu emaw pa taksaa cell dangte hian he mutation hi an nei lo tihna a ni a, chuvangin chu nu leh pate chuan Lamb-Schafer syndrome symptoms an lantir lo tihna a ni. Mahse, an germ cell thenkhat chauh hian he inthlak danglamna hi an nei thei a ni. Hei hi germline mosaicism an ti a. A buaithlak deuh a, mahse doctor ten an hrilhfiah belh thei che a ni.

Chu aia tlem zawk chu naupang chuan Lamb-Schafer syndrome nei nu leh pa hnen atangin he natna hi a rochun thei a ni. Chutiang a nih chuan chu naupang chuan 50% zetin he natna hi a vei theihna chance a nei a ni. Chumi awmzia chu naupang pahnih zinga pakhatin a nei thei tihna a ni a, a nei lo thei lo tihna a ni.

Eng nge a lan chhuah dan? Engtin nge i hriat chian?

Okay, tunah chuan Lamb-Schafer Syndrome (LAMSHF) vei naupang pakhatah eng symptom nge i hmuh theih ang tih kan en ang. Heng symptom zawng zawng hi naupang tinah a awm vek dawn lo tih hre reng la, thenkhat chuan symptom thenkhat chauh an nei thei a, a symptoms nasat dan pawh a inang lo thei bawk.

Vawi tam tak chu chhinchhiahna lang hmasa ber chu thusawi leh motor skill lama tlai lutuk hi a ni. Motor skill-ah hian thut, crawling, leh kea kal te a tel. Hengte hi i naute tan chuan hun rei vak lo a la ngai thei. Nausen naupang zawkte pawhin taksa ruh (muscle tone) hniam (hypotonia) an nei thei a , chu chu taksa chak lo (limp body) an nei thei tihna a ni.

A lan chhuah dan tlangpui

Naupang a lo upat deuh deuh chuan symptoms i hmu tam zawk mai thei. Chung zinga ṭhenkhat chu:

• Thusawi tihhmasawn tlai: Naupang thenkhat chuan thumal inzawmkhawm leh sentence siam harsa an ti thei. Ṭhenkhat phei chuan an sawi tlai hle mai thei.
• Ngaihven hun rei zawk:Thil pakhat chauh ngaihtuah rei chu thil harsa tak a ni thei. Awlsam takin i ngaihtuahna a buai thei.
• Hyperactivity: Hmun khata awm harsa, tlan kual leh inkhelh reng duhna a nei thei.
• Thiamna lama harsatna: Thil thar zir te, thil hriatrengna te, leh harsatna chinfelna kawngah harsatna engemaw zat a awm thei. Hei hi mi hrang hrangah a degree a inang lo.
• Stereotypies: A chang chuan i fain chetna chi khat (kut beng emaw, lu beng emaw ang chi) a tih nawn leh fo thin i hmu thei. Chûngte chu thunun theih loha an tih a ni.
• Khawtlang inthiarfihlim: Mi dangte nena inpawlna, inkhelh, emaw, inbiakna emaw ngaihven lohna a awm thei.
• Thinrimna: Naupang ṭhenkhat chuan an rilru put hmang thunun harsa an ti a, chuvangin thinrimna leh thinrimna nasa tak an nei fo thei .
• Mit lama harsatna: Naupang thenkhat chuan strabismus , cross-eye chi khat, emaw, refractive errors , nearsightedness emaw astigmatism emaw an nei thei a, chu chu glasses vuah a ngai thei bawk.

Heng symptoms pakhat emaw pahnih emaw nei naupang zawng zawng hian Lamb-Schafer syndrome an nei vek lo va, chuvang chuan doctor thurawn lak a pawimawh hle.

Thil dang chu Lamb-Schafer syndrome vei naupang 10 zinga pakhat vel chuan seizures an nei thei a ni . Mahse chutiang chu mi zawng zawng tan a ni lo.

Hmai leh taksa inthlak danglamna

Naupang thenkhat chuan an hmel pianzia leh taksa ruhah danglamna bik an nei thei. Mahse, heng inthlak danglamna te hi a langsar vak lo mai thei a, doctor chauhin a hmu thei bawk.

• Hnar zau tak
• Hmai langsar tak (`frontal bossing`) .
• Chin emaw jaw te tak te
• Strabismus (mit hrual) .
• Upper lip te tak te emaw, irregular taka full lips emaw
• Kawngkhar ruh pakhat emaw a aia tam emaw articulation mumal lo
• Hma lam hawia rounding (kyphosis) .
• An ruhro (spine) a curve mumal lo (scoliosis) .

Hetiang symptoms hi hmuh a nih chuan doctor-te chuan a chhan hriat chian nan test dang an nei leh thin.

Engtin nge hetiang chiah hian i diagnose? (Diagnosis) tih a ni.

Doctor-te chuan genetic test hmangin naupang pakhatin Lamb-Schafer syndrome (LAMSHF) a nei em tih an hre thei a ni. Entîr nân, naupangin a thusawi emaw, a kal emaw a tlai a nih chuan, a nih loh leh a hmai emaw, a ruhro emaw pianziaah danglamna tê tê a awm a nih chuan, doctor-te chuan hetiang chi genetic test neih hi an rawt thei a ni.

He genetic test hi a hmaa kan sawi tawh `SOX5` gene-ah hian mutation a awm leh awm loh dik taka hriat theihna awmchhun a ni. Hei hi thisen sample-a test tih a ni tlangpui.

Naupai lai hian i hre thei em?

A tam zawkah chuan naupai lai hian mi zawng zawng hi Lamb-Schafer syndrome test vek an ni lo. Hei hi a chhan chu thil awm lo tak a nih vang a ni. Mahse, nu emaw, chhungkaw hnai tak emaw chuan `SOX5` gene-ah mutation a nei tih hriat a nih chuan, emaw, chhungkaw zinga mi tu emaw chuan Lamb-Schafer syndrome , a nei a nih chuan , doctor-te chuan naupai laiin he natna hi test turin an rawt mai thei. Chutiang hunah chuan mithiamte thurawn angin `(amniocentesis)` ang chi test hi tih theih a ni.

Enkawlnate chu engte nge ni?

Tunah hian Lamb-Schafer syndrome (LAMSHF) hi enkawlna bik a la awm lo a, chu chu natna hi a tidam vek thei tihna a ni. Amaherawhchu, chu chuan engmah kan ti thei lo tihna erawh a ni lo. Enkawlna tum ber chu naupang nunphung tihchangtlun leh nitin hna thawk tura tanpui hi a ni.

Hei hian enkawlna leh service hrang hrang a huam thei a ni. Entir nan:

• Behavioral management therapy: Hei hian naupang nungchang mawi lo a tihziaawm bakah nungchang tha a fuih bawk.
• Individualized Education Programs (IEP) emaw Special Education Services: Heng programme te hian sikul kal thei naupangte tan an zirlai mamawh ang zela zirna pek a pui thin.
• Speech therapy: Hei hi naupang tawng harsatna nei tan chuan an inbiakpawhna thiamna tihpun nan a pawimawh hle.
• Physical therapy: Naupang hnungzang lama harsatna nei (scoliosis leh kyphosis ang chi) te hian an dinhmun siam that nan te, an taksa ruh tichak turin exercise an dawng thin a, kea kalna tur pawh a ni thei.
• Genetic counseling: Hei hian nu leh pate chu naupang dinhmun hrethiam turin a pui a, thu thar an hriattir a, chhungkaw member dangte nen an dinhmun hlauhawmzia an sawipui bawk.
• Mit lam endikna: Mit lama harsatna awmte enkawl nan mit lam doctor pan a pawimawh.
• Neurological evaluations: Neurologist hian nervous system nena inzawm harsatna, seizure leh gait abnormalities te chu a pui thei a ni.
• Orthopaedic evaluations: Ruh lam nena inzawm harsatna, scoliosis ang chi te hian ruh lam doctor puihna a ngai thei.

Heng zawng zawng hi naupang chu a tha thei ang bera nun nuam leh nuam taka a awm theih nan tih a ni.Mi mal tinte enkawlna mamawh a inang lo thei a, doctor team chuan naupang tâna ṭha ber tûr chu an ngaihtuah ang.

Nakin lawka naupangte pawh hi hlauhawmah an awm dawn em ni?

Nangmah emaw i chhungte zinga tu emaw hian `SOX5` gene mutation an nei tih i hriat a, fa dang i beisei a nih chuan genetic counselor pan a tha Nakin lawka fate hnena he natna hi a kai theih dan te, chutianga i tih chuan nang leh i fate a nghawng theih dan tur chu a hrilhfiah thei che a ni. Chu chuan thu tlûkna dik siam tûrin a ṭanpui ang che.

Hetiang dinhmun nen hian nun chu eng ang nge ni ang? (Hun rei tak chhunga nghawng nei thei) .

Tuna kan hriat dan chuan Lamb-Schafer syndrome (LAMSHF) hian mi dam rei zawng a nghawng lo niin a lang. Chu chu a thlamuanna deuh a ni lawm ni? Mahse, he natna neia nun hi mi hrang hrangah a inang lo thei a, nunphung pawh a inang lo thei.

Mi thenkhat chuan mahni inrintawkna neia an hna an thawh theih loh phah mai thei. An rilru lama theihna a zirin, an dam chhûng zawngin enkawltu ṭanpuina an mamawh thei a ni. Amaherawhchu, inenkawlna leh \anpuina dik tak an neih chuan, anni pawh hian nun hlimawm leh awmze nei takin an nung thei a ni.

I doctor zawh tur thil

I fa emaw, he natna chungchangah emaw zawhna i neih chuan i doctor emaw nurse emaw zawh hreh ngai suh. Hetiang thil hi i zawt thei ang:

• Lamb-Schafer syndrome natna lan chhuah dan chu engte nge ni?
• Ka fa hian he natna hi a nei em tih chiang taka hriat theih nan eng test nge ka tih ang?
• Eng enkawlna kawng nge awm?
• Fa dang ka neih chuan ani pawhin he natna hi a neih theihna chance engzat nge awm?

Hetiang zawhna zawh a, i rilru a buaina awmte chinfel a pawimawh hle.

Take-Home Thuchah a ni

Lamb-Shaffer Syndrome (LAMSHF) hi genetic condition hmuh tur awm lo tak a ni. Naupangte hmasawnna a tikhawtlai thei a, rilru lama harsatna a thlen thei a, hmêl a tidanglam thei bawk . Naupang thenkhat chuan hnungzang lamah harsatna an nei thei bawk.

Hei hi damdawi awm lo mah se, naupang theihna leh nunphung tihchangtlun nan enkawlna chi hrang hrang (speech therapy, behavioral therapy, leh special education) a awm a.

Tunah hian he dinhmun hian dam chhung zawngah nghawng a nei lo niin an ngai. Mahse, naupang ṭhenkhat chuan damchhung enkawl an ngai mai thei. Hemi chungchangah hian rinhlelhna emaw, ngaihtuahna emaw i neih chuan damdawi lam thurawn la nghal rawh. Chu chu tih tur tha ber a ni.

` Lamb-Shaffer Syndrome, LAMSHF, SOX5 gene, genetic disease, hmasawnna tlai, tawng harsa, rilru lama harsatna nei te