Yu gyal pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Triple X Syndrome

Yu dɔn ɛva notis se yu gyal pikin de du tin difrɛn smɔl pas ɔda pikin dɛn, ɔ i kin delay fɔ gro? Ɔ, if yu na big uman, yu de tray tranga wan fɔ no wetin de mek yu gɛt sɔm wɛlbɔdi prɔblɛm dɛn? Tide wi go tɔk bɔt wan jenɛtik kɔndishɔn we bɔku pipul dɛn nɔ yɛri bɔt, bɔt we de afɛkt gyal pikin dɛn nɔmɔ. Dɛn kɔl am Triple X Syndrome. Nɔ wɔri, wi go tɔk bɔt dis simpul we we yu go ɔndastand.

Wetin na Tripul X Sindrom?

Fɔ tɔk am simpul wan, Tripul X Sindrom na wan sik we dɛn kin bɔn uman pikin wit wan ɛkstra X kromozom na in sɛl dɛn, pas di nɔmal tu X kromozom dɛn. Dɛn kin kɔl dis bak trisomy X syndrome, ɔ 47,XXX, lɛk aw dɔktɔ dɛn kin kɔl am.

Imajin, wi bɔdi gɛt bɔku bɔku smɔl smɔl sɛl dɛn. Ɛni wan pan dɛn sɛl ya gɛt wi jɛnɛtik infɔmeshɔn lɛk wi ayt, wi kɔlɔ, ɛn aw wi kin gɛt sik. Dɛn kin kip dis infɔmeshɔn na tin dɛn we dɛn kɔl kromozom. Na avrej, mɔtalman gɛt 23 pe kromozom, ɔ 46 kromozom. Wan pe pan dɛn tin ya de sho wi man ɔ uman. uman kin gεt tu X kromozom (XX), εn man kin gεt wan X kromozom εn wan Y kromozom (XY).

Bɔt pɔsin we gɛt Tripul X Sindrom gɛt tri X kromozom dɛn na ɔl in sɛl dɛn, ɔ na sɔm pan in sɛl dɛn nɔmɔ. if na sכm pan di sεl dεm nכmכ gεt dis εkstra X kromozom, dεn kכl am 46,XX/47,XXX mosaicism.

Yu nɔr kin gɛt ɛni sayn fɔ trisomy X, ɔr yu kin lɔng pas ɔda pipul dɛm. Yu kin gɛt prɔblɛm bak fɔ bɔn pikin ɔr kin go tru menopause kwik, bɔt dis nɔ kin apin to ɔlman we gɛt dis sik.

Aw dis sik kin kɔmɔn?

Dɛn kin si dis sik pan lɛk wan pan ɛvri 900 to 1000 gyal pikin dɛn we dɛn jɔs bɔn. Dis min se sɔntɛm dɛn kayn pikin dɛn de na Sri Lanka bak. Bɔt, i nɔ kin izi fɔ no di rayt nɔmba. Bikɔs bɔrku pipul dɛm wae gɛt dis sik nɔr kin sho ɛni sayn, dɛn nɔr kin go fɔ tɛst.

Wetin na di sayn dɛm fɔ Triple X syndrome?

Bɔrku sayn de pan pipul dɛm wae gɛt Triple X Syndrome. Yu nɔr kin gɛt ɛni sayn, ɔr yu sik kin so smɔl dat yu nɔr kin notis. Ɔ, yu kin gɛt sɔm pan de bɔdi tin dɛm, prɔblɛm wae gɛt fɔ du wit yu bren, ɔr ɔda mɛrɛsin wae gɛt fɔ du wit Triple X Syndrome.

Di kwaliti dɛn we pɔsin gɛt na in bɔdi

Bɔrku pipul dɛm wae gɛt triple X syndrome kin lɔng pas ɔda pipul dɛm wae gɛt dɛn ej. Dɛn kin lɔng bak pas aw dɔktɔ dɛn go tɔk bikɔs dɛn mama ɛn papa ay. Apat frɔm dat, sɔm ɔda tin dɛn de we nɔ izi fɔ si:

• di distans bitwin di yay dεm bכku pas nכmal ( hypertelorism ).
• di prεsεns fכ wan skin fold (epicanthal folds) na di insay kכna na di yay.
• di smɔl finga we de bɛn ɔ kruk ( clinodactyly ).
• di mכsul dεm we de wik ( hypotonia ), we min se di bכdi trεnk kin dכn sכmtεm.

Kɔndishɔn dɛn we gɛt fɔ du wit di nervɔs sistɛm

Sɔm pipul dɛm wae gɛt triplɛ X sindrom kin gɛt prɔblɛm wit dɛn divɛlɔpmɛnt ɔr dɛn kin gɛt prɔblɛm wit dɛn maynd. Dɛn tin ya na:

• Divεlכpmεnt delay : fכ egzampl, tin dεm lεk fכ delay tכk εn delay fכ waka.
• Disabiliti fɔ lan .
• Atɛnshɔn-dɛfisit/haypa aktiviti disɔda (ADHD ).
• Disɔda wae de mɛk pɔrsin fil lɛk wae pɔrsin de wɔri ɛn pwɛl hat.
• Mild kognitiv impεryans .

Ɔda tin dɛn we kin apin to pɔsin we sik

Pan ɔl we i nɔ kin apin so ɔltɛm, sɔm pipul dɛn we gɛt triplɛ X sindrom kin gɛt tin dɛn lɛk:

• Di kɔndishɔn dɛn we di ɔtoimyun kin gɛt .
• Di chenj dɛn we de apin na di at strɔkchɔ.
• Frɛkuɛnt urinary tract infɛkshɔn ( UTI ).
• di genito- urinary diformities ɔ di malfunctions.
• Di kidni dɛn we nɔ de wok fayn.
• Di ovarian ol bifo tɛm ɔ i nɔ de wok fayn .
• Di sik dɛn we kin mek pɔsin sik .

Mɛmba se nɔto ɔlman go gɛt ɔl dɛn sik ya. Sɔm pipul dɛn kin gɛt wan ɔ tu, ɛn sɔm nɔ kin gɛt am atɔl.

Wetin kin mek pɔsin gɛt triplɛ X sindrom?

Tripul X sεndrכm na jεnεtik kכndyushכn we de kכz we di tכd X kromozom de. Pan ɔl we na jɛnɛtiks, i nɔ kin gɛt am frɔm in mama ɛn papa . Bɔku tɛm, i kin apin bay chans. dat min se di ekstra X kromozom de kכz fכ wan mistek we di kromozom divεlכpmεnt we di mama in eg sεl כ di papa in sεl sεl de fכm. Dis na tin we kin apin wan wan tɛm.

Bɔt dɛn se if di mama dɔn pas 35 ia we dɛn bɔn di pikin, di pikin kin gɛt smɔl risk fɔ gɛt triplɛ X sindrom.

Aw yu no dis?

Infakt, if yu nɔr gɛt ɛni prɔblɛm wit yu mɛrɛsin ɔr yu nɔr gɛt ɛni prɔblɛm wit yu divɛlɔpmɛnt, i go mɔs bi se dɛn nɔr no bɔt dis sik. Bɔt if dɔktɔ tink se yu (ɔ yu pikin) gɛt trisomy X syndrome, dɛn go se yu fɔ tɛst yu jɛnɛtiks. dεn kכl dis tεst bak karyotayp כ kromozom maykroεri.

Sɔm pipul dɛn kin ɔlrɛdi no se dɛn gɛt triplɛ X sindrom we dɛn du tɛst bikɔs ɔf di prɔblɛm dɛn we gɛt fɔ du wit di pikin dɛn we dɛn kin bɔn.

If yu gɛt bɛlɛ, ɛn yu dɔn pas 35 ia, ɔ if yusɛf gɛt triplɛ X sindrom, yu dɔktɔ kin tɛl yu fɔ du di jenɛtik tɛst bifo yu bɔn, bikɔs yu pikin we nɔ bɔn yet kin gɛt dis sik. dis kin inklud noninvasive prenatal testing (NIPT ), amniocentesis , ɔ chorionic villi sampling (CVS ). Yu kin no bak bɔt triplɛ X sindrom bay chans we yu de du ɔda tɛst fɔ no mɔ bɔt yu pikin. Ivin if di tɛst we dɛn du bifo dɛn bɔn yu pikin sho se dɛn gɛt triplɛ X sindrom, i stil impɔtant fɔ mek dɛn du di jenɛtik tɛst afta dɛn bɔn yu pikin fɔ mek dɛn no se i gɛt di sik .

Aw dɛn kin trit am?

No patikyula mɛrɛsin nɔ de fɔ tripul X sindrom. Bɔt fɔ no di sik kwik kwik wan ɛn fɔ ɛp dɛn kin rili ɛp pikin dɛn we kin gɛt prɔblɛm wit dɛn divɛlɔpmɛnt.

Afta yu dɔn no se yu gɛt di sik, yu dɔktɔ kin ɔda fɔ du sɔm ɔda tɛst dɛn, fɔ ɛgzampul:

• Rεnal ultrasound fכ luk di strכkchכ fכ yu kidni dεm.
• Kɔnsul dɔktɔ we de mɛn yu at ɔ du EKG ɔ echocardiogram fɔ chɛk aw yu at de.
• Wan nyurolɔji kɔnsultɛshɔn ɛn nyurosaykolojik tɛst .

Apat frɔm dat, yu dɔktɔ dɛn kin ɛp yu fɔ kɔntrol ɛni sayn we gɛt fɔ du wit triplɛ X sindrom. Dɛn kin rifer yu to spɛshal pipul dɛn lɛk:

• Wan spɛshal pɔsin we sabi bɔt ɛndokrinɔlɔji (prɔblɛm dɛn we gɛt fɔ du wit ɔmon).
• Fizik tɛrapi (fɔ tin dɛm lɛk we di mɔsul wik).
• Ɔkupeshɔn tɛrapi (fɔ ɛp wit di wok dɛn we dɛn kin du ɛvride).
• Spich therapy (fɔ di prɔblɛm dɛn we pɔsin kin tɔk).
• Saikɔlɔji (fɔ mental wɛlbɔdi prɔblɛm).
• Wan spɛshal pɔsin fɔ bɔn pikin fɔ advays bɔt aw fɔ bɔn pikin ɛn fɔ plan fɔ famili.
• Jɛnɛtik advays if yu want fɔ bɔn pikin.

If yu gɛt ovarian failure bifo tɛm, yu dɔktɔ go tɔk bɔt di gud ɛn bad tin dɛn we yu tek ɛstrojen tɛrapi wit yu.

Yu tink se dɛn kin ebul fɔ avɔyd Tripul X Sindrom?

Bay di infɔmeshɔn we de naw, no we nɔ de fɔ mek dɛn nɔ gɛt triplɛ X sindrom. If yu de pan ay risk fɔ gɛt pikin we gɛt triplɛ X sindrom (e.g., if yu dɔn pas 35 ia), i fayn fɔ tɔk to yu dɔktɔ bɔt aw fɔ advays yu jɛnɛtiks ɛn aw fɔ tɛst yu jenɛtik bifo yu bɔn.

Wetin na de luk fɔ di wan dɛn we de liv wit dis sik?

Fɔ bɔrku pipul dɛm, triple X syndrome nɔr kin gɛt big impak pan dɛn layf. in jεnarכl, fכ no di sik kwik kwik wan εn intavεnshכn kin εp fכ ridyus di impak we di divεlכpmεnt delay . Pikin dɛn fɔ de chɛk dɛn ɔltɛm fɔ wach aw dɛn de gro ɛn aw dɛn de gro. Bikɔs di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, i impɔtant fɔ mek yu gɛt wan kɔmplit evalueshɔn fɔ no wetin yu nid fɔ du.

Aw di layf span de?

Triple X syndrome nɔr kin rili afɛkt layfspan. Bɔt sɔm pan di sayd ɛfɛkt dɛm wae gɛt fɔ du wit am kin gɛt impak. Bɔrku tɛm, pipul dɛm wae gɛt triple X syndrome kin liv nɔrmal layf, lɛk pipul dɛm wae gɛt tu X kromozom.

Dis na disabiliti?

Nɔ, triplɛ X sindrom nɔto disabled insɛf. Bɔt sɔm pan de kɔndishɔn dɛm wae gɛt fɔ du wit am (e.g., siriɔs prɔblɛm wae de kam pan pɔrsin fɔ lan, mɛntɛl hεlth prɔblɛm) kin mek yu nɔr ebul fɔ fɛn ɛn ol woke. If na so, na sɔm kɔntri dɛn yu kin ebul fɔ aplay fɔ tin dɛn lɛk Sɔshial Sikyuriti Disabiliti bɛnifit . Insay Sri Lanka, if i nɔ izi fɔ yu fɔ fɛn wok, yu kin luk bak fɔ we dɛn fɔ gɛt sɔm sɔpɔt frɔm di gɔvmɛnt ɔ ɔda institiushɔn dɛn.

Aw triplɛ X sindrom kin afɛkt di bren?

Bikɔs triplɛ X sindrom na wan sik wae nɔr kin bɔrku, dɛn nɔr dɔn du bɔrku big big stɔdi bɔt pipul dɛm wae gɛt dis bren. Insay wan smɔl stɔdi we dɛn bin du pan 35 pikin dɛn we gɛt trisomy X, sɔm pipul dɛn we de stɔdi bɔt dis bin kam fɔ no se dɛn bren smɔl pas pikin dɛn we nɔmal ej ɛn man ɔ uman. Di eria dɛn na di bren we involv pan langwej ɛn ɛgzibit wok bin afɛkt mɔ. 40% pan dɛn pikin ya bin gɛt wan mental wɛlbɔdi kɔndishɔn bak we dɛn kɔl wɔri. Bɔt dɛn nid fɔ du big stɔdi dɛn fɔ mek dɛn kɔnfɔm dɛn tin ya we dɛn dɔn fɛn.

Wetin wi nid fɔ lan frɔm dis (Take-Home Message) .

Sɔntɛm yu pikin nɔ gɛt bɛtɛ rɛspɛkt fɔ insɛf, ɔ i gɛt prɔblɛm fɔ mek padi. Ɔ sɔntɛm yu dɔn de tray fɔ bɔn pikin fɔ lɔng tɛm ɛn yu nɔ bin ebul fɔ du am. Ivin if yu dɔn de fil difrɛn smɔl frɔm ɔlman ɔltɛm, fɔ no se yu gɛt wan sik we yu gɛt wit yu jɛnɛtiks kin bi big tin. Sɔmtɛm, fɔ gɛt diagnosis kin bi rilif, lɛk, "Oh, dis na wetin dɔn de apin fɔ lɔng tɛm." Ɔda tɛm, e kin fil fɔ frayd, ɔr lɛk se ɔltin dɔn dɔn.

Bɔt, diagnosis na infɔmeshɔn wae yu nɔr bin no bifo. I kin tek tɛm fɔ mek wi gri wit am ɛn ajɔst to am. We yu de wɔnda ustɛm ɛn aw fɔ tɛl yu pikin, tɔk to yu pikin in dɔktɔ. Dɛn kin kɔnɛkt yu to sɔpɔt grup ɛn ɔda tin dɛn. Mɛmba se nɔto yu wangren de. Di tin we impɔtant pas ɔl na fɔ no bɔt dɛn tin ya ɛn gɛt di ɛp we yu nid.

` Tripul X Sindrom, Tripul X Sindrom, Jεnεtik Sik, Uman in Wεlth, Kromozom, Divεlכpmεnt Dεlay, X Kromozom