Yu pikin de kray lɛk pusi? Lɛ wi lan bɔt Cri du Chat Syndrome.

Yu dɔn ɛva notis se sɔntɛnde pikin dɛn we dɛn jɔs bɔn kin kray smɔl strenj? Dɔn bak, sɔm tɛm dɛn de we i kin tan lɛk se di we aw sɔm pikin dɛn fes kin tan ɛn di we aw dɛn kin gro difrɛn smɔl. Tide wi go tɔk bɔt wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm bɔt we rili impɔtant fɔ mek wi no bɔt. Dɛn kɔl dat ‘Cri du Chat Syndrome’.

Wetin na di sik we dɛn kɔl Cri du Chat Syndrome?

Fɔ tɔk am simpul wan, cri du chat syndrome na wan sik we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks. Na we wan smɔl pat pan wan kromozom we de na wi bɔdi dɔn pul am. Yu kin de wɔnda wetin mek dɛn kɔl am ‘cri du chat’. Na Frɛnch wɔd we min ‘kray fɔ pusi’. Di nem kɔmɔt frɔm di patikyula sawnd we pikin dɛn we gɛt dis sik kin mek we dɛn de kray. Na sawnd we smɔl ɛn we ay, lɛk we kichin pikin de miks.

Dɛn kin kɔl dis bak ‘5p- sindrom’ (5p mayns sindrom) . Yu no wetin i bi? dis min se wi gεt kromozom nכmba 5, εn di pat we dεn kכl 'p' (dat na di sכm an) na di pat we a mεnshכn we nכ de. di we aw dis ‘5p-’ sεndrכm de afekt εvri pכsin kin difrεn. Dat min se, i dipen pan di sayz fɔ di kromozom pat we nɔ de ɛn usay i nɔ de, sɔm pipul dɛn kin gɛt mɔ ɔ smɔl sayn dɛn. If dis pies de mis bכku pan sכm bebi dεm, di sayn dεm kin bi sכmtεm sכmtεm.

Aw kɔmɔn dis kray du chat sityueshɔn?

Fɔ tru, di sik we dɛn kɔl Cree du Chat syndrome na wan sik we nɔ kin apin so ɔltɛm . Bɔt na wan pan di sik dɛn we dɛn kin ripɔt mɔ bɔt we di kromozom nɔ de wok fayn. Imajin, insay kɔntri lɛk Amɛrika, dɛn kin bɔn lɛk wan pikin wit dis sik fɔ ɛvri 15,000 to 50,000 pikin dɛn we dɛn jɔs bɔn. Dat min se na lɛk 50 to 60 pikin dɛn kin bɔn ɛvri ia. So, chans de fɔ no dɛn kayn kɔndishɔn ya na Sri Lanka bak.

Wetin na di sayn dɛm wae de sho se yu gɛt cri du chat syndrome?

De sayn dɛm fɔ dis sik kin difrɛn bad bad wan, lɛk aw a bin dɔn tɔk bifo tɛm. Bɔt di men ɛn kɔmɔn sayn na dat difrɛn, lɔw, ay ay kray kray. I tan lɛk se pusi de kray. yu kin no dis sawnd klia wan insay di fכs wik dεm afta dεn bכn am. Bɔt as di pikin de ol, di difrɛns we dis sawnd gɛt nɔ kin rili klia.

Apat frɔm dat, yu pikin kin notis dɛn difrɛn tin dɛn ya na in fes :

• Smɔl pas di nɔmal ed saiz (maykrosɛfali).
• Fes we nɔ kɔmɔn fɔ mek i rawnd.
• Wid nos.
• di distans bitwin di yay dεm bכku pas nכmal (hypertelorism).
• Krɔs yay (strabismus).
• di aylid dεm de bεn dכn (palpebral fissures).
• fכ gεt εkstra fold fכ di skin na di insay kכna na di yay (monolid yay dεm).
• di yes dεm de posishכn dכn nכmal.
• Jaw we nɔmal fɔ smɔl (maycrognathia).
• Bitwin di ɔpa lip ɛn di nosFiltrum we nɔmal fɔ shɔt.

As di pikin de gro, di fes we ful-ɔp kin go dɔŋ, ɛn di fes kin lɔng ɛn smɔl we nɔ kin izi fɔ am.

Ɔda sayn dɛm wae yu kin si na:

• Di wet we dɛn bɔn we dɛn bɔn smɔl.
• Di we aw pɔsin nɔ de gro fayn.
• I nɔ izi fɔ it. fכ egzampl, i nכ kin ebul fכ sכk, i kin at fכ sכlow (dysphagia), εn rεfluks εsophagitis (GERD).
• Di mɔsul dɛn we wik (hypotonia).
• Skɔliosis we de mek pɔsin gɛt sik.
• At we nɔ fayn.
• Dilay pan divεlכpmεnt maylston dεm lεk ed kכntrכl, sidon, εn waka.
• Dilɛys pan tɔk ɛn langwej skil dɛm.
• Mɔdaret to siriɔs intɛlektual disabiliti .

Di impɔtant tin na dat nɔto ɔl pikin go gɛt ɔl dɛn kwaliti ya. Sɔm bebi dɛn kin gɛt sɔm pan dɛn nɔmɔ.

Wetin mek dis cri du chat syndrome kin apin?

A bin se Cree du Chat syndrome na wan sik we de ambɔg di kromozom . i de kכz fכ dilit wan pat pan di sכt an (p arm) fכ di kromozom nכmba 5. bכku tεm, dis lכs fכ dis pat pan di kromozom kin apin randomly. dat min se i kin apin bay chans we di riprodaktiv sεl dεm (i.e. di eg כ sεl dεm) fכ di mama כ papa de fכm, כ di tεm we di pikin de divεlכp kwik kwik wan. di pikin we gεt dis kכndyushכn bikoz fכ wan random ‘dileshכn’ kin gεt nכmal kromozom frכm di tu mama εn papa dεm. Dat min se, i nɔ kin gɛt am frɔm ɛni wan pan dɛn mama ɛn papa, bɔku tɛm.

Dɔn yu nɔ tink se dis na frɔm di mama ɛn papa?

Bɔrku tɛm (lɛk 90 pan 100), Cree du Chat syndrome nɔr kin kɔmɔt frɔm am. So, dɛn nɔ go ebul fɔ klas am as dominant ɔ recessive. Pikin dɛm wae gɛt dis 5p- kɔndishɔn nɔr kin gɛt famili histri bɔt dis sik.

כltu, wan rili sכm pasεnshכn (lεk 10%) pan di pikin dεm kin gεt dis kromozom abnכmaliti frכm mama εn papa we nכ afekt. Yu no aw dis kin apin? dat mama εn papa kin gεt sכmtin we dεn k כl ‘balanced translocation’ insay dεn kromozom dεm. Dat min se di mama ɔ papa in jɛnɛtik matirial nɔ de lɔs ɔ inkris. So, bɔku tɛm dɛn mama ɛn papa dɛn de nɔ kin gɛt ɛni prɔblɛm wit dɛn wɛlbɔdi. כltu, we dis ‘balεns translכkeshכn' na pikin in inhεrit, i kin bi ‘unbalanced’. Na da tɛm de di pikin go gɛt dis sik.

Aw dɛn kin no di sik we dɛn kɔl cre du chat syndrome?

Bɔku tɛm, yu pikin in dɔktɔ go si yu jɔs afta dɛn bɔn am.Dɛn kin no dis sik bikɔs di dɔktɔ kin wach tin dɛn lɛk di kray we tan lɛk pusi we a bin dɔn tɔk bɔt ɛn di spɛshal tin dɛn we de na di fes. Di dɔktɔ go du wan kɔmplit fizik ɛgzam ɛn asɛs di pikin in sik dɛn. I go mɔs bi se di dɔktɔ go tɛl yu fɔ du di kromozom tɛst fɔ no if yu gɛt di sik.

Us tɛst dɛn de du fɔ dis?

Tri men kayn jenɛtik tɛst dɛn de we yu pikin in dɔktɔ kin yuz fɔ no if i gɛt di sik we dɛn kɔl Cree du Chat syndrome:

• Karyotype test: Dɛn kin yuz dis fɔ mek map fɔ di pikin in kromozom dɛn. dis kin yus fכ si if wan pat pan wan kromozom nכ de כ nכ de.
• FISH tɛst: FISH tinap fɔ ‘fluorescence in situ haybridization.’ dis tεst de luk fכ spεshal jεnεtik chenj dεm כ jin fragmεnt dεm na di pikin in sεl dεm.
• kromozom maykro εri analisis: Maykro εri analisis na jεnεtik tεst we de kכmpεr pikin in DNA wit di DNA fכ wan kכntrol grup. i kin no di ol kromozom dεm, di kromozom sεgmεnt dεm, εn dilit εn duplikεshכn dεm na spεshal say dεm na di kromozom dεm.

Yu tink se cre du chat kin mɛn?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl cri du chat syndrome. Bɔt if yu no yu pikin kwik kwik wan ɛn du am kwik , dat kin ɛp fɔ du ɔl wetin i ebul fɔ du ɛn liv layf we gɛt minin. Na dat impɔtant pas ɔl.

Aw dɛn kin trit di sik we dɛn kɔl cre du chat syndrome?

Di tritmɛnt fɔ cri du chat syndrome kin difrɛn frɔm wan pikin to ɔda pikin, bikɔs nɔto ɔlman gɛt di sem sayn. I go mɔs bi se di tritmɛnt go nid fɔ kɔntinyu fɔ kia frɔm wan tim we de kia fɔ wɛlbɔdi biznɛs . Di tritmɛnt we dɛn kin gɛt mɔ na fɔ mek dɛn gɛt wɛlbɔdi bak. Dis kin inklud tin dɛm lɛk fyzikal tritmɛnt, ɔkupeshɔn tɛrapi, ɛn tɔk tritmɛnt.

Fizik Tɛrapi

If yu pikin gɛt prɔblɛm wit aw i de it (e.g., i nɔ izi fɔ sok ɔ swɛla), yu fɔ bigin fɔ trit yu bɔdi kwik kwik wan. Fyzikal tritmɛnt de ɛp yu pikin bak fɔ divɛlɔp in bɔdi. Dat min se, i de ɛp dɛn fɔ sidɔm, tinap, ɛn fɔ gɛt fayn fayn motoka skil dɛn.

Ɔkupeshɔnal Tɛrapi

Occupational therapy de ɛp yu pikin fɔ gɛt di skil dɛm wae i nid fɔ intarakt wit di wɔl wae de arawnd am na ɛvride layf. Dis kin inklud fɔ divɛlɔp fayn fayn motoka skil dɛm, fɔ si tin, fɔ kia fɔ yusɛf, ɛn fɔ gɛt sɛns fɔ no.

Spich Tɛrapi

Spich therapy de ɛp wit pikin in kɔmyunikeshɔn prɔblɛm. Di wan dɛn we de mɛn pipul dɛn we de tɔk kin tich pikin dɛn difrɛn we dɛn fɔ tɔk to dɛnsɛf. Fɔ ɛgzampul, sayn langwej , fɔ tɔk to pipul dɛn wit di ɛp we tɛknɔlɔji de gi, ɛn ɔda tin dɛn.Di wan dɛn we de mɛn pipul dɛn we de tɔk kin ɛp bak fɔ gɛt prɔblɛm wit it frɔm we dɛn smɔl.

Apat frɔm dɛn tritmɛnt ya, yu pikin in dɔktɔ kin tɛl yu fɔ du ɔpreshɔn fɔ difrɛn tin dɛn. Fɔ ɛgzampul, ɔpreshɔn kin kɔrɛkt di tin dɛn lɛk we dɛn bɔn am wit at prɔblɛm, strabismus, ɛn skɔliosis.

Yu tink se dɛn kin mek cre du chat nɔ apin?

Bikɔs cri du chat syndrome na wan jenɛtik kɔndishɔn, wi nɔ go ebul fɔ avɔyd am. Bɔt if yu de op fɔ gɛt pikin, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks . If yu gɛt kɔyl fɔ yu pikin bɔt yu jɛnɛtiks, dat kin ɛp yu fɔ ɔndastand di prɔblɛm we kin mek yu pikin gɛt wan sik we dɛn kɔl jenɛtik disɔda.

Wetin na di layfspan fɔ pikin we gɛt cri du chat?

De luk fɔ bɔrku pikin dɛm wae gɛt Cree du Chat syndrome kin kɔmplikt smɔl ɛn kin difrɛn. di sayz εn di say we di pat pan di kromozom 5 we nכ de na di men tin we de sho di pikin in fכs fכs. Yu pikin kin gɛt sɔm prɔblɛm dɛn na in bɔdi ɛn maynd. Bɔt bɔku pikin dɛn we gɛt Cree du Chat kin liv nɔmal layf.

Bɔt sɔm pikin dɛn kin bɔn wit wɛlbɔdi prɔblɛm we kin mek dɛn layf de pan denja. lεk 75% pan dεn kayn pikin dεm de day insay di fכs mכnt we dεn de liv. Na lɛk 90% pan di wan dɛn we kin day kin apin insay di fɔs ia. Bɔt di nɔmba fɔ pipul dɛn we de day kin go dɔŋ afta di fɔs sɔm ia dɛn we dɛn dɔn liv.

We wi de luk aw pikin in sik go kam tumara bambay , wan pan di tin dɛn we impɔtant pas ɔl na fɔ no di sik kwik kwik wan. Dis kin mek dɛn ebul fɔ bigin di tritmɛnt ɛn tritmɛnt dɛn we dɛn nid kwik kwik wan ɛn ɛp di pikin fɔ gɛt sakrifays.

I kin tranga fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm. Bɔt we yu lan bɔt de sik, dat kin mek yu ebul fɔ kɔntrol sɔm tin dɛn. Cre du Chat syndrome na wan sik wae gɛt difrɛn kayn sayn dɛm. If yu no di sik kwik kwik wan ɛn gi yu di rayt tritmɛnt, yu kin gi yu pikin di bɛst tin fɔ du. Lan as yu ebul bɔt de sik ɛn fɛn sɔpɔt grup fɔ ɛp yu. If yu ɛp yu pikin kwik kwik wan ɛn yu de kɔntinyu fɔ gi yu tritmɛnt, i go ebul fɔ du ɔl wetin i ebul fɔ du.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Cri du Chat Syndrome kin tan lɛk strenj smɔl, bɔt i impɔtant fɔ no bɔt am.

• dis na wan jεnεtik kכndyushכn we nכ kin apin we wan pat pan di kromozom nכmba 5 we nכ de.
• Di men tin we de mek pɔsin kray na we i de kray we tan lɛk pusi.pan di sem tεm, dεn kin si spεshal fכs fכs dεm εn divεlכpmεnt dεlay.
• Bɔku tɛm, dis kin apin bay chans, nɔto sɔntin we mama ɛn papa gɛt.
• Pan ɔl we no mɛrɛsin nɔ de fɔ dis, if dɛn no di pikin kwik kwik wan ɛn trit am lɛk aw i de mɛn in bɔdi, aw i de wok, ɛn aw i de tɔk, dat kin mek di pikin in layf bɛtɛ bad bad wan.
• Nɔto yu wan de. Gɛt sɔpɔt frɔm dɔktɔ dɛn, tritmɛnt pipul dɛn, ɛn ɔda mama ɛn papa dɛn we dɔn gɛt di sem kayn ɛkspiriɛns .

Evri pikin valyu, lɛ wi ɔl ɛp dɛn fɔ divɛlɔp dɛn pɔtnɛshɛl.

` Cri du Chat Syndrome, jεnεtik sik dεm, kromozom dεm, 5p mayns, kat kray, divεlכpmεnt dilay, fyzikal tεrapi, tεrapi tεrapi