Yu smɔl pikin gɛt prɔblɛm fɔ yɛri ɛn gɛt larynx? Lɛ wi lan bɔt Pendred Syndrome!

Yu smɔl pikin nɔ de flinch we i de mek lawd nɔys? Ɔ i nɔ de luk bak we dɛn kɔl in nem? Sɔntɛnde, biɛn dɛn tin ya, wan sik kin de we nɔ kin apin so ɔltɛm we wi nɔ kin ivin tink bɔt. Na dat na Pendred Syndrome . Nɔ wɔri, tide wi go tɔk bɔt dis simpul wan, insay wan we we yu go ɔndastand.

Wetin na Pɛndrɛd Sindrom?

Fɔ tɔk am simpul wan, Pendred Syndrome na wan sik we nɔ kin apin so ɔltɛm . If na so i bi, yu pikin kin bɔn wit pɔsin we nɔ de yɛri fayn fɔ ɔltɛm. Dis we aw pɔsin kin yɛri kin afɛkt ɔl tu di yes dɛn ɛn i kin wɔs as tɛm de go. Apat frɔm dat, pikin ɛn yɔŋ pipul dɛn we gɛt Pendred Syndrome kin gɛt goiter , we na wan tayroyd gland we dɔn big na dɛn nɛk. Sɔntɛnde, bɔt i nɔ kin apin so ɔltɛm, dis goyter kin mek bak wan tayroyd gland we nɔ de wok fayn (haypothyroidism).

Imajin aw i go tranga fɔ no se yu pikin gɛt dis sik. Bɔt di tin we impɔtant pas ɔl na fɔ nɔ fred . Yu dɔktɔ go ɛp yu fɔ kɔntrol di sik ɛn kɔntrol di sik dɛn we yu pikin gɛt as mɔ as yu ebul. Dɛn go tɛl yu bak bɔt di tin dɛn we yu kin yuz fɔ yɛri we fayn fɔ yu pikin, ɛn bak aw fɔ tɔk to pipul dɛn. Dɔn di we aw yu pikin nɔ de yɛri fayn nɔ go bi big tin we go ambɔg yu pikin in langwej ɛn lan.

Wetin na di sayn dɛm wae de sho se pɔrsin gɛt Pendred syndrome?

Di men ɛn klia sayn fɔ dis sik na we pɔsin nɔ de yɛri fayn . Di kayn we aw dis lɔs kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Sɔm pikin dɛn kin gɛt smɔl to siriɔs wan we dɛn nɔ kin yɛri fayn (def). Fɔ ɛgzampul, pikin we nɔ de yɛri fayn kin ebul fɔ yɛri pipul dɛn de tɔk bɔt i nɔ kin ebul fɔ ɔndastand wetin dɛn de tɔk.

Bɔrku tɛm, dis nɔr kin yɛri fayn kin de wae dɛn bɔn am, bɔt sɔmtɛm i kin apia wae i smɔl, wae i smɔl, ɔr ivin leta.

Di sayn dɛm we de sho se pɔsin nɔ de yɛri fayn bikɔs ɔf Pendred syndrome kin bi:

• Smɔl pikin nɔ kin flinch ivin we i yɛri lawd nɔys.
• Di pikin nɔ de ansa we dɛn kɔl am in nem.
• Di pikin nɔ tɔk in fɔs wɔd fɔ lɛk wan ia so.
• Fɔ bigin tɔk leta pas ɔda pikin dɛn we gɛt di sem ej.
• Di pikin kin aks yu ɔltɛm fɔ "say dat bak."

Apat frɔm dɛn prɔblɛm ya we pɔsin kin yɛri, sɔm ɔda sayn dɛn kin de:

• Bεlεns εshyu we yu de waka - fכ egzampl, tek sכm tεm fכ bigin waka. Bɔt dis nɔ kin apin to ɔlman ɛn i nɔ kin apin so ɔltɛm.
• Goiter - dεn kin si dis mכst we di pikin big sכmtεm, dat na, we i de tכn כ we i yכng.
• Hypothyroidism - Dis na wan sik bak we nɔ kin apin so ɔltɛm.

Wetin mek dis Pendred syndrome kin apin?

di men kכz fכ Pendred sεndrכm na di jεnεtik mכtεshכn insay wan jin we dεn kכl `SLC26A4` . dis jin de εp wi bכdi fכ mek wan protin we dεn kכl `pendrin` . Dis pendrin gɛt fɔ du wit ɔl tu di we aw wi de yɛri ɛn di we aw di tayroyd gland de wok. Yu no se di tayroyd gland de mek ɔmon dɛn we de kɔntrol aw wi bɔdi de yuz ɛnaji (mɛtabolism).

So, we prכblεm de wit dis pεndrin protin, di strכkchכ dεm na di pikin in insay yes we riliyt to yεri kin nכ de divεlכp fayn . dis na wetin de mek wan kכndyushכn we dεn kכl sensorineural hearing loss . "Sensorineural" min se dis we aw yu de yɛri kin de fɔ ɔltɛm ɛn na prɔblɛm we de na di insay yes sɛf de mek am. Dɛn prɔblɛm ya kin bi:

• Enlarged Vestibular Aqueducts (EVAs) : Yu vestibular aqueducts na sכm sכm bכni tכb dεm we de kכnekt yu insay yes to di sכkul. Bɔrku pipul dɛm wae gɛt big big vestibular aqueducts kin gɛt dis maynia sik.
• wan kכklia we gεt sכm "tכn" pas nכmal : di kכklia na di insay pat pan wi כditory sistεm. Na wan tin we gɛt kɔyl, lɛk di grov we snɛl de mek. I nɔmal fɔ gɛt 2 ɛn 3/4 tɔn. Pikin we gɛt Pendred syndrome kin gɛt smɔl tɔn na dis kɔyl pas nɔmal pɔsin. Dis kin gɛt fɔ du bak wit di we aw pɔsin nɔ de yɛri fayn.

Dɔn bak, lɛk aw a bin dɔn tɔk, pendrin kin afɛkt bak di we aw di tayroyd gland de wok. So, we prɔblɛm de wit di tayroyd gland, i kin swel (goiter) ɛn nɔ prodyuz inof ɔmon.

Aw pikin kin gɛt Pendred syndrome?

Dis kin tan lɛk se i kɔmplikt smɔl fɔ ɔndastand, bɔt lɛ a tɔk am simpul wan. pikin we gεt Pεndrεd sεndrכm kin gεt di trayt insay wan כtosom rεsεsiv patεn . Okay, dis soun likli komplikayt, no bi so? Fɔ tɔk am simpul wan, i tan lɛk dis:

fכ mek pikin sho dεn simptom ya, i fכ gεt tu kכpi fכ dis jin mכtεshכn – wan frכm in mama εn wan frכm in papa.

If na so i bi, di mama ɛn papa dɛn ɔl tu na di wan dɛn we de kɛr di jin we dɔn chenj. Dat min se dɛn ɔl tu gɛt wan jin we dɔn chenj ɛn wan nɔmal jin. Bikɔs ɔf da nɔmal jin de, di mama ɛn papa nɔ kin gɛt Pendred syndrome. Bɔt we dɛn gɛt pikin, na lɛk 25% chans de fɔ mek di pikin gɛt di sik. Tink bɔt am lɛk fɔ flip tu kɔyn ɛn dɛn ɔl tu go kam ɔp ed.

Aw dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Pendred syndrome?

Wetin fɔ du fɔ chɛk if di pikin dɛn we dɛn jɔs bɔn gɛt prɔblɛm wit dɛn yɛriDɛn kin du di skrinin fɔ yɛri na ɔspitul. If wan tɛst fɔ yɛri sho se pɔsin nɔ de yɛri igen, dɛn nid fɔ du ɔda tɛst fɔ kɔnfirm di diagnosis. Na da tɛm de nɔmɔ dɛn kin du mɔ spɛshal tɛst fɔ chɛk fɔ si if pɔsin gɛt Pendred sindrom. Ɔ, if yu tink se yu pikin gɛt prɔblɛm fɔ yɛri, yu kin go to dɔktɔ. Dis tɛm ya, yu go mɔs go to dɔktɔ we de mɛn yu yay (ENT) ɔ pɔsin we sabi bɔt yu jɛnɛtiks .

Di dɔktɔ go aks yu kwɛstyɔn dɛn bɔt di prɔblɛm we yu pikin gɛt fɔ yɛri. Fɔ ɛgzampul, ustɛm yu fɔs notis am ɛn if ɛnibɔdi na yu famili dɔn gɛt prɔblɛm wit yu yɛri bifo. Bikɔs Pendred syndrome na tin we pɔsin kin gɛt frɔm in mama ɛn papa, i pɔsibul se sɔmbɔdi na yu famili dɔn gɛt am bak.

Dis na di tɛst dɛm wae de ɛp fɔ no if yu gɛt Pendred syndrome:

• Tεst dεm fכ yεri : Dis dεm inklud tεst dεm lεk Otoacoustic Emissions (OAE) εn Auditory Brainstem Response (ABR) . dis dεm de luk pan di wok we di insay yes εn di כditory path dεm de du. As di pikin de ol, dɛn kin du mɔ tɛst fɔ si if di pɔsin we nɔ de yɛri fayn de chenj.
• Imej skan : Dɛn kin du CT skan ɔ MRI skan fɔ luk fɔ abnɔmal strɔkchɔ dɛn na di insay yes. fכ egzampl, dεn skan dεm ya kin luk fכ εnlarged vestibular aqueducts (EVA) כ wan abnכmal kכklia.
• Jεnεtik tεst : Bכdi tεst fכ chεk fכ di prεsεns fכ di SLC26A4 jin mכtεshכn kin kכnfכm di diagnosis.

If yu pikin gɛt goiter, dɛn kin go to ɛndokrinɔlɔjis bak fɔ chɛk fɔ si if i gɛt tayroyd prɔblɛm.

Aw dɛn kin trit di sik we dɛn kɔl Pendred syndrome?

Fɔ tɔk tru, no mɛrɛsin nɔ de yet fɔ mɛn Pendred syndrome . Bɔt bɔku tin dɛn de fɔ du fɔ mɛn di sik. Di tritmɛnt dipen pan bɔku tin, lɛk us abnɔmal tin dɛn de na di pikin in insay yes ɛn aw di pikin nɔ de yɛri fayn.

Di tritmɛnt opshɔn dɛm fɔ Pendred syndrome:

• Edyukeshɔn ɛn kɔmyunikeshɔn we: Dɛn nid fɔ ɛp di pikin fɔ lan ɔda we dɛn fɔ tɔk to ɔda pipul dɛn ɛn fɔ tɔk to ɔda pipul dɛn, nɔto jɔs bay we i de yɛri. Fɔ ɛgzampul, tin dɛn lɛk sayn langwej.
• Di tin dɛn we yu kin yuz fɔ yɛri : Dɛn kin yuz tin fɔ ɛp yu fɔ yɛri ɔ yu kin yuz kɔklia fɔ ɛp yu pikin fɔ yɛri fayn fayn wan.Yɛs, sɔntɛm i go nid fɔ du dat. Dɛn divays ya kin ɛp bɔku, at ɔl di pikin kin bigin fɔ yɛri sawnd. Wan ɔdiɔlɔjis ɛn wan spɛshal pɔsin we sabi bɔt di yes, nos ɛn trot kin wok togɛda fɔ tɛl di pikin di tɛknɔlɔji we fit di pikin fɔ yɛri.
• Tayrɔyd tritmɛnt : If yu pikin gɛt tayroyd we nɔ de wok fayn (haypothyroidism), i kin nid fɔ tek tayroyd ɔmon pil (tayroyd sɔpɔtmɛnt). If di goiter rili big, i kin nid fɔ ɔpreshɔn fɔ pul am (thyroidectomy).

If mi pikin gɛt Pendred syndrome, wetin a fɔ ɛkspɛkt?

Bɔrku pan di kes dɛm wae gɛt Pendred syndrome , wae pɔrsin nɔr de yɛri fayn kin wɔs smɔl smɔl (prɔgrɛsiv fɔ yɛri) . Sɔm pikin dɛn kin lɛf fɔ yɛri igen as tɛm de go. Bɔt di kayn we aw dis kin tranga kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Bɔku pikin dɛn kin yuz tin fɔ ɛp dɛn fɔ yɛri ɔ fɔ mek dɛn ebul fɔ yɛri nia di we aw dɛn kin yɛri ɛn fɔ liv fayn. Yu pikin in mɛdikal tim go advays yu bɔt di bɛst tritmɛnt fɔ ɛp yu pikin fɔ yɛri.

De tin wae impɔtant pas ɔl na fɔ no dis sik ɛn bigin fɔ trit am kwik kwik wan. Dis we ya, di pikin kin lan aw fɔ tɔk to ɔda pipul dɛn ɛn go bifo wit ɔda pikin dɛn we in ej.

Pendred syndrome na wan sik wae de kam wae yu de liv yu layf. Bɔt i nɔ min se di pikin nɔ go ebul fɔ ɔndastand ɔda pipul dɛn ɔ tɔk wetin dɛn tink.

Aw a fɔ kia fɔ mi pikin?

If yu pikin gɛt Pendred syndrome, i impɔtant fɔ protɛkt am frɔm injury na in ed, jɔs lɛk ɛni ɔda pikin . Fɔ ɛgzampul, if yu wɛr ɛlmɛt we yu de rayd baysikul, dat kin ɛp fɔ mek yu nɔ yɛri wantɛm wantɛm bikɔs yu gɛt injuri na yu ed we aksidɛnt apin. Smɔl tin dɛn lɛk dis kin mek big difrɛns.

Ustɛm a fɔ go to dɔktɔ?

Lɛ wi put am na sayd if di kɔz na Pendred syndrome ɔ ɔda tin. If yu notis ɛni chenj ɔ tin we nɔ fayn na yu pikin in yɛri, yu fɔ rili go to dɔktɔ. Bikɔs di kwik we yu gɛt diagnosis, na di kwik yu kin ebul fɔ manej di we aw yu de yɛri ɛn bigin fɔ trit yu. Dat rili impɔtant fɔ di pikin in tumara bambay.

Us kwɛstyɔn dɛn a fɔ aks mi pikin in dɔktɔ?

We yu go si dɔktɔ, rɛdi fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Udat go de na di mɛdikal tim we de trit mi pikin? (e.g. ENT dɔktɔ, ɔdiɔlɔjis, jɛnɛtiks)
• Wetin na di sayn dɛm we de sho se di we aw mi pikin de yɛri de wɔs?
• Wetin na di tritmɛnt dɛn we yu kin gɛt?
• Wetin na di tritmɛnt schedule we yu dɔn tɔk bɔt?
• Us ɔda tin dɛn we mi pikin kin du we go ambɔg di we aw i de yɛri? (e.g. lawd nɔys, sɔm spɔt dɛn)
• Us tin dɛn de fɔ ɛp pikin ɛn mama ɛn papa fɔ bia wit di prɔblɛm we dɛn kin yɛri we dɛn smɔl? (e.g., advays savis, sɔpɔt grup)

Wit Pendred syndrome, pikin kin lɔs di ebul fɔ yɛri sawnd dɛm we de ɛp am fɔ kɔnɛkt wit di tin dɛm we de arawnd am. Bɔt dis nɔ min se di pikin fɔ avɔyd dɛn intarakshɔn ya sote go. Di tin dɛn we dɛn kin yuz fɔ ɛp fɔ yɛri kin rili ɛp bɔku pikin dɛn we gɛt dis sik. We yu lan aw fɔ tɔk to pipul dɛn we i smɔl, dat kin ɛp yu pikin fɔ de wit ɔda pipul dɛn, ilɛksɛf i nɔ de yɛri fayn. Yu pikin in wɛlbɔdi tim go ebul fɔ tɔk to yu bɔt di step dɛm we yu ɛn yu famili kin tek fɔ ɛp yu pikin. Tek at, nɔto yu wangren de!

Impɔtant tin dɛn fɔ mɛmba (Take-Home Message) .

• Pendred Syndrome na wan jεnεtik kכndyushכn we de mεntal mek yu nכ de yεri εn sכmtεm dεn kin mek yu כtitis mεdia.
• Fɔ no am kwik kwik wan ɛn fɔ trit am rili impɔtant. Dis kin rili ɛp di pikin in kwaliti fɔ liv.
• Pan ɔl we no mɛrɛsin nɔ de, we dɛn de fɔ mɛn am. Dɛn tin ya na tin dɛn we dɛn kin yuz fɔ ɛp pɔsin fɔ yɛri, tritmɛnt fɔ tɔk, ɛn if nid de, tritmɛnt fɔ tayroyd.
• I rili impɔtant fɔ mek wi lɛk di pikin, sɔpɔt am, ɛn ɛnkɔrej am. We yu de fala di advays we dɔktɔ gi am, ɛp di pikin fɔ liv nɔmal layf ɛn gladi at.
• Protɛkt yu pikin frɔm injuri na in ed. Dis go ridyus di chans fɔ mek yu nɔ yɛri fayn.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ fred fɔ tɔk to yu dɔktɔ. Dɛn kin rɛdi ɔltɛm fɔ ɛp yu.

` Pendred syndrome, we yu nɔ de yɛri fayn, tonsilaytis, jɛnɛtik sik, pikin dɛn wɛlbɔdi, ɛp fɔ yɛri, tayroyd