Yu pikin gɛt prɔblɛm wit in bren? Lɛ wi tɔk bɔt Joubert Syndrome

Yu kin tink bɔt yu smɔl pikin in wɛlbɔdi ɔltɛm, nɔto so? Sɔntɛnde, pikin dɛn kin gɛt wɛlbɔdi prɔblɛm dɛn we nɔ kin apin so ɔltɛm. Wan pan dɛn sik ya na Joubert Syndrome. Yu kin fil strenj smɔl we yu yɛri dis nem, bɔt lɛ wi tɔk bɔt am simpul wan. dis na kכndyushכn we de kכz fכ di jεnεtik fכs εn i de afekt di divεlכpmεnt fכ di pikin in bren.

Wetin na di sik we dɛn kɔl Joubert Syndrome? Fɔ tɔk am simpul wan...

Joubert syndrome na wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks . i kin apin we wan pat pan di pikin in bren nכ de divεlכp fayn we di pikin de divεlכp, dat na we i stil de na di mama in bεlε. Tink bɔt am, wi bren tan lɛk mashin we rili kɔmpleks. Na di difrɛn pat dɛn pan am de kɔntrol ɔl di tin dɛn we wi de du bay we wi de wok togɛda. so, insay dis kכndishכn , di divεlכpmεnt fכ di sεribεl εn di bren stεm de mεntal afekt.

Difrɛn sɔbtayp dɛn de fɔ dis sik, so di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. Bɔt di sayn dɛm wae kin mɔna yu na wae yu gɛt prɔblɛm wit yu mɔsul kɔntrol, yu de chenj yu mɔsul dɛm, yu nɔr kin ebul fɔ blo fayn, ɛn yu kin gɛt prɔblɛm wit yu yay.

Ɔlsay na di wɔl, na lɛk wan pan ɛvri 100,000 pikin dɛn kin bɔn wit dis sik. Bɔku tɛm, dis kin bi bikɔs ɔf di jɛnɛtik muteshon we dɛn kin gɛt frɔm di mama ɛn papa. Bɔt sɔmtɛm, dis sik kin apin wan wan tɛm fɔ no rizin.

Wetin na di sayn dɛm wae de sho se yu gɛt Joubert syndrome?

Pikin wae gɛt Joubert syndrome kin sho difrɛn kayn sayn dɛm. Dɛn sayn ya kin chenj as di pikin de gro. Di men sayn dɛm na wae yu bɔdi kin chenj, yu yay kin gɛt prɔblɛm, ɛn yu kin gɛt prɔblɛm wit yu liva ɛn kidni.

Prɔblɛm dɛn we gɛt fɔ du wit di nervɔs sistɛm:

Yu pikin kin gɛt prɔblɛm ɔ tin dɛn we gɛt fɔ du wit in nervɔs sistɛm lɛk:

• lכw mכsul tכn (Hypotonia): Dis na we di mכsul dεm na di pikin in bכdi kin rili lכs. Leta, dis kin bi prɔblɛm wit di kɔdineshɔn we di mɔsul dɛn gɛt (ataxia) . Dis min se i kin at fɔ waka ɔ fɔ ol tin dɛn.
• Prɔblɛm wit yu yay: Fɔ ɛgzampul, yu kin notis se yu yay de muv kwik kwik wan we nɔrmal (nystagmus) ɔr strabismus (yay de tɔn na difrɛn say).
• Prɔblɛm fɔ blo: Dɛn tin ya kin bi we yu de blo kwik kwik wan, we nɔ shayn (tachypnea) ɔ we yu de stɔp fɔ blo (apnea) . Dɛn tin ya kin apin mɔ pan yɔŋ bebi dɛn.
• Di delay fɔ divɛlɔp: Di pikin kin let fɔ du tin lɛk fɔ tɔk, fɔ waka, ɛn fɔ ple we fit in ej.
• Intɛlektual disabiliti: Sɔm pikin dɛn kin gɛt sɔm wikɛd tin dɛn lɛk fɔ lan ɛn fɔ ɔndastand.

Di chenj dɛn we de apin na di bɔdi:

Yu kin si sɔm spɛshal tin dɛn we pikin dɛn we gɛt dis sik de luk:

• Kleft lip ɛn/ɔ cleft palata .
• spεsifi k fes fכm dεm: fכ egzampl, wan brayt fכs, di aylid dεm we de dכp (`ptosis`) , wan distans we big pas nכmal distans bitwin di yay dεm. di yes dεm kin set dכn pas nכmal, εn di mכt kin bi triangul in shep wit di כp lip we tכn כp na di midul.
• fכ gεt εkstra finga dεm (Polydactyly) (na di an כ fut).
• Tɔng we de kɔmɔt na do .

Ɔda sik dɛn we pɔsin kin gɛt:

As di pikin de gro, prɔblɛm kin kam wit di retina (di pat pan di yay we kin chenj layt to imej), kidni, ɛn liva. Fɔ ɛgzampul, Leber in congenital amaurosis (wan siriɔs vishɔn kɔndishɔn), polycystic kidney disease , ɔ liva we nɔ de wok fayn kin kam.

Wetin mek di sik we dɛn kɔl Joubert syndrome kin apin? Wetin na di tin dɛn we kin mek i apin?

Di men tin we kin mek pɔsin gɛt Joubert syndrome na we di jin dɛn kin chenj, we dɛn kɔl mutations . di kכndyushכn kin kכz fכ di mכtεshכn dεm na mכr dan 35 difrεn jin dεm we de kכntribyut fכ divεlכp di bren.

bכku tεm, dεn jεnεtik mכtεshכn ya kin kכmכt insay wan כtosom rεsεsiv we . Fɔ tɔk am simpul wan, pikin go gɛt di sik if dɛn gɛt di jin we dɔn chenj frɔm in mama ɛn papa.

כltu, wan pan dεn mכtεshכn ya kin inhεrit bak as ‘X-linked’ mכtεshכn . dis min se di jin mכtεshכn de pan di X kromozom. di mכtayshכn dεm na di X kromozom kin pas to di pikin כl tu as dכminant mכtεshכn כ as rεsεsiv mכtεshכn. Bɔt nɔto ɔltɛm i kin klia aw di pikin gɛt am frɔm in mama ɛn papa.

dis jεnεtik mכtεshכn dεm kin mek abnכmal tin dεm na dεn pat dεm ya na di pikin in bren:

• Sɛribɛl: Na dis say wi de kɔntrol wi kɔdineshɔn ɛn muvmɛnt. insay Joubert syndrome, di sεribra vεmis, we na wan pat pan di sεribεl, kin nכ de כ i kin sכm sכm pas nכmal.
• Brenstem: Dis de kɔntrol aw yu de blo ɛn balans. Dis sɛf nɔ de divɛlɔp fayn fayn wan. pan imej skan, dis abnכmal sεribεl vεmis εn bren stεm de luk lεk tut. Dɔktɔ dɛn kɔl dis di sayn fɔ di molar tut . Fɔ no dis sayn na wan we fɔ no if yu gɛt Joubert syndrome.
• Cilia: .Dis na smɔl smɔl tin dɛn we de kɔmɔt na di sɛl dɛn, lɛk ɛntena dɛn we de kɔmɔt na di ruf na bildin. dis cilia dεm we de insay di bren sεl dεm de εp di כgan dεm fכ kכmכnik wit dεn wan dεm we dεn de divεlכp. Risach pipul dɛm biliv se di jenɛtik muteshon dɛm wae de afɛkt dɛn cilia ya na in de mek pipul dɛm wae gɛt Joubert syndrome gɛt prɔblɛm wit dɛn yay, kidni, ɛn liva.

Aw dɛn tin ya we kin chenj na di jɛnɛtiks kin afɛkt di ɔda pipul dɛn na di famili?

i dipכnt pan tin dεm lεk di kayn jεnεtik mכtεshכn εn jεnda.

• Autosomal recessive inheritance: Wan brɔda ɛn sista fɔ pikin we gɛt Joubert syndrome gɛt 25% chans fɔ gɛt dis sik. 50% chans de fכ bi kכriכ fכ di jin mכtεshכn we nכ gεt simptom. 25% chans de fכ mek yu nכ gεt di jin mכtεshכn כ di simptom dεm.
• X-linked inheritance: man pikin gεt 50% chans fכ gεt di kכndyushכn. Bɔt if i nɔ gɛt ɛni sayn, i nɔto pɔsin we de kɛr am. uman pikin gεt 25% chans fכ gεt di kכndyushכn. 50% chans de fכ bi kכriכ fכ di jin mכtεshכn we nכ de fכ bi sכmtεm.

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

Dɔktɔ dɛn kin no di sik we dɛn kɔl Joubert syndrome bay we dɛn de si di sik we di pikin gɛt ɛn di tɛst dɛn we dɛn kin du fɔ tek di pikchɔ. Di krayteria fɔ no dis sik na:

• di ‘molar tooth sign’ de sho pan MRI (Magnetic Resonance Imaging) skan na di bren.
• Di sayn dɛm we de sho se di mɔsul dɛn nɔ de tɔn fayn (Hypotonia) .
• Divɛlɔpmɛnt dilɛys dɛn .

Dɔktɔ dɛn kin ɔda bak fɔ mek dɛn du tɛst fɔ no if pɔsin gɛt di sik ɛn fɔ plan di tritmɛnt. stכdi dεn sho se bitwin 62% εn 94% pan di pikin dεm we gεt Joubert syndrome gεt wan pan di jεnεtik mכtεshכn dεm we de mek i gεt am. If dɔktɔ dɛn no di rayt tin we de apin na di jɛnɛtiks, dat kin ɛp fɔ no wetin go apin to dɛn wɛlbɔdi prɔblɛm dɛn tumara bambay ɛn trit dɛn kwik kwik wan.

"Di 'molar tut sayn' na di bren MRI rili impɔtant fɔ no di Joubert syndrome. Jɛnɛtik tɛst de ɛp bak fɔ kɔnfɔm di sik ɛn plan fɔ trit am tumara bambay."

Yu tink se dɛn kin no dis tru tɛst we dɛn kin du bifo dɛn bɔn pikin?

I pɔsibul, bɔt nɔto ɔltɛm. sכmtεm dεn kin si chenj dεm na di fetal bren stεm כ sεribεl pan MRI bifo i bכn . כltu, dεn nכ kin si sכm abnכmal tin dεm na di pikin in bren pan MRI skan.

Wetin na di tritmɛnt fɔ di sik we dɛn kɔl Joubert syndrome?

Di tritmɛnt we dɛn kin gi kin difrɛn frɔm wan pikin to ɔda pikin. E dip pan tin dεm lεk di kayn sik wae de sik εn aw e de afekt di pikin. Fɔ ɛgzampul:

• If yu pikin gɛt prɔblɛm fɔ blo, dɛn kin gi yu sɔpɔt kia lɛk sɔpɔtmɛnt ɔksijɛn ɔ mɛkanikal ventileshɔn .
• Pikin dɛn we gɛt ɔl kayn ej we nɔ de gro fayn kin gɛt fizik tritmɛnt , tɔk ɛn langwej tritmɛnt, ɛn ɔkupeshɔn tɛrapi . Dɛn tin ya kin ɛp fɔ mek i izi fɔ di pikin fɔ du tin dɛn we i kin du ɛvride.
• Pikin we gɛt ay sik lɛk strabismus kin gɛt ɔpreshɔn bak (strabismus ɔpreshɔn) .

Dipen pan aw Joubert syndrome kin afɛkt yu pikin, yu kin nid fɔ go to spɛshal pipul dɛn ɔltɛm fɔ no, wach, ɛn trit tin dɛn lɛk kidni sik, yay prɔblɛm, ɛn prɔblɛm wit in nervɔs sistɛm.

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

Di fiuja fɔ bebi ɛn pikin dɛn we gɛt Joubert syndrome dipen pan bɔku tin dɛn. spεshal wan, di spεsifi k jεnεtik mכtεshכn we de afekt di pikin imכtant. Jɛnɛral wan, pikin dɛm wae gɛt Joubert syndrome go nid fɔ gɛt mɛrɛsin fɔ ɔl dɛn layf ɛn ɔda sɔpɔt. Yu pikin in dɔktɔ na di bɛst pɔsin fɔ gi yu infɔmeshɔn bɔt dis.

Wetin na di layf we pikin we dɛn bɔn wit Joubert syndrome kin liv?

Joubert syndrome kin kil pɔsin we i smɔl. Bɔt sɔm pipul dɛn we gɛt dis sik kin liv te dɛn big. Risach pipul dɛm stil de stɔdi aw dis sik wae nɔr kin bɔrku kin liv lɔng. Dɔn bak, di kayn sik we yu pikin gɛt difrɛn, dat min se di we aw di sik de afɛkt am difrɛn. Na nɔmal tin fɔ want fɔ no aw lɔng yu pikin go liv. Yu pikin in mɛdikal tim na di bɛst say fɔ no bɔt dis.

A kin mek yu nɔ gɛt di sik we dɛn kɔl Joubert syndrome?

Bɔt i sɔri fɔ no se, no we nɔ de fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Joubert syndrome. Bɔt di wan dɛn we de stɔdi bɔt yu jɛnɛtiks ɛn di wan dɛn we de gi advays bɔt yu jɛnɛtiks kin ɛp fɔ no if pɔsin na yu famili de pan denja. Da infɔmeshɔn de kin ɛp pipul dɛn fɔ disayd, fɔ ɛgzampul, if dɛn fɔ bɔn pikin ɔ nɔ bɔn pikin.

Ustɛm mi pikin fɔ go to dɔktɔ?

De sayn dɛm fɔ Joubert syndrome kin chenj ɔlsay na yu pikin in layf. So, i impɔtant fɔ kɛr yu pikin go chɛk-ap ɛvri ia . Di dɔktɔ kin chɛk fɔ dɛn tin ya:

• Pikin de gro ɛn divɛlɔp.
• Ays we yu de si.
• Liva ɛn kidni de wok.

Yu pikin go gɛt nyurolɔjik ɛgzamɛn ɛn di divɛlɔpmɛnt tɛst dɛn wan wan tɛm.Yu kin nid bak fɔ gɛt spɛshal kia fɔ trit yu yay prɔblɛm, kidni sik, ɔ liva sik.

Aw a go kia fɔ misɛf ɛn mi famili?

Joubert syndrome kin mek big difrɛns na famili layf. E kin rili strɛs fɔ ɔlman wae lɛk ɛn kia fɔ pikin wae gɛt dis sik. If yu gɛt pikin we gɛt Joubert syndrome, dɛn aidia ya kin ɛp:

• Sɔpɔt grup dɛm: Joubert syndrome na wan sik wae nɔr kin bɔrku. Yu go fil lɛk se na yu famili nɔmɔ de gɛt dɛn prɔblɛm dɛn ya. We yu jɔyn sɔpɔt grup, yu kin kɔnɛkt wit ɔda mama ɛn papa, pipul dɛn we de kia fɔ dɛn, ɛn famili dɛn we de gɛt di sem kayn prɔblɛm dɛn.
• Kɔnsul: We yu tɔk to dɔktɔ we de mɛn yu maynd ɔ ɔda pɔsin we sabi bɔt yu maynd, dat kin ɛp yu ɛn yu famili fɔ kɔntrol di strɛs, wɔri, ɛn ɔda filin dɛn we kin kam wit dis.
• Get Active: Joubert syndrome kin kam wae yu nɔr ebul fɔ kɔntrol, so yu kin fil se yu nɔr ebul fɔ du ɛnitin. If na so, tink bɔt fɔ wok wit ɔganayzeshɔn dɛn we de sɔpɔt program ɛn risach lɛk dis.

Us kwɛstyɔn dɛn a fɔ aks mi pikin in dɔktɔ?

Yu kin gɛt bɔku kwɛstyɔn dɛn bɔt wetin yu pikin nid naw ɛn wetin go apin tumara bambay. Na sɔm advays dɛn ya:

• Us kayn disabiliti wi fɔ ɛkspɛkt?
• Us kayn spɛshal pipul dɛn wi fɔ si?
• Aw ɔltɛm wi fɔ mit wit dɛn?
• Yu tink se mi pikin go nid ɔpreshɔn?
• Aw wi pikin in layf go tan lɛk?
• Yu tink se ɔda pipul dɛn na di famili fɔ tɛst dɛn jɛnɛtiks?

We yu no se yu pikin gɛt di sik we dɛn kɔl Joubert syndrome, dat kin mek yu sɔprayz bad bad wan. Na wan sik wae nɔr kin bɔrku, so yu nɔr kin no bɔrku tin bɔt am. Yu go fil lɛk se yu dɔn rich na kɔntri we yu nɔ sabi wantɛm wantɛm ɛn yu dɔn lɔs we yu nɔ gɛt map ɔ kɔmpas fɔ fɛn yu we.

Yu pikin in dɔktɔ dɛn ɔndastand se yu go gɛt bɔku kwɛstyɔn ɛn tin dɛn we de mɔna yu insay dis waka we yu nɔ sabi. Nɔ ɛva shem fɔ aks fɔ infɔmeshɔn ɛn ɛp. Fɔ ɛgzampul, Joubert syndrome kin kam wit bɔrku wɛl bɔdi prɔblɛm wit difrɛn sayn dɛm. Dɔn bak, nyu prɔblɛm dɛn kin kam we yu pikin de gro.

Bɔrku pikin dɛm wae gɛt dis sik go nid fɔ gɛt mɛrɛsin ɛn sɔpɔt fɔ ɔl dɛn layf. Yu pikin in mɛdikal tim go de fɔ sɔpɔt yu ɛn yu pikin pan dis rod we yu nɔ no.

Mɛsej we dɛn kin kɛr go na os

Joubert syndrome na wan sik wae nɔr kin izi fɔ yu, bɔt mɛmba se nɔr to yu wan.

• Gɛt kɔrɛkt infɔmeshɔn: Aks yu mɛdikal tim fɔ ɔl wetin yu nid fɔ no.
• I impɔtant fɔ de wach yu pikin ɔltɛm wit dɔktɔ: Wach yu pikin ɔltɛm aw i de gro ɛn aw i gɛt wɛlbɔdi.
• Rif to di tritmɛnt dɛn we dɛn kin gi:Tin dεm lεk fyzikal tεrapi εn spεch tεrapi kin rili εp fכ divεlכp di pikin in abiliti dεm.
• Stay strɔng: As mama ɔ papa, fɔ kɔntinyu fɔ strɔng na big trɛnk fɔ yu pikin. Go to advays if nid de.
• Join sɔpɔt grup dɛn: Di ɛkspiriɛns dɛn we ɔda pipul dɛn gɛt go mek yu gɛt trɛnk.

Pan ɔl we dis waka at fɔ waka, if yu gɛt di rayt sɔpɔt ɛn tritmɛnt, yu kin ɛp yu pikin fɔ liv di bɛst layf.

` Joubert sεndrכm, jεnεtik sik dεm, bren divεlכpmεnt, pikin dεm sik dεm, haypotonia, ataxia, molar tut sayn