Yu no bɔt PURA sindrom? No dɛn tin ya fɔ yu pikin in tumara bambay!

Yu kin ɛva gɛt smɔl dawt ɔ fred bɔt aw yu smɔl pikin de gro? Sɔntɛnde, pikin dɛn kin lan tin smɔl smɔl, ɔ sɔm wɛlbɔdi prɔblɛm dɛn kin kam. Sɔmtɛm lɛk dis, i kin impɔtant fɔ no bɔt wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl PURA syndrome. If dis tan lɛk se i siriɔs smɔl, nɔ panik. Lɛ wi tɔk bɔt am simpul wan.

Wetin na PURA sindrom?

Fɔ tɔk am simpul wan, PURA sindrom na wan sik we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks . I kin afɛkt wi nervɔs sistɛm mɔ . Dat min se na di bren ɛn di nerv dɛn kin afɛkt mɔ. Bikɔs ɔf dis, di pikin in divɛlɔpmɛnt kin delay frɔm mɔdaret to siriɔs . I kin mek bak pɔsin nɔ ebul fɔ lan. Bɔku tɛm, pikin dɛn we gɛt PURA sindrom kin gɛt prɔblɛm fɔ waka, dɛn kin gɛt sik we dɛn kɔl epilepsy, ɛn ɔda wɛlbɔdi prɔblɛm dɛn.

di wan dεm we de du risach biliv se dis de kכz fכ chenj, כ mכtεshכn, na di jin dεm we de involv fכ divεlכp di bren εn di nεv sεl dεm (nεv sεl dεm / nyuron dεm). di pikin dεm we dεn bכn wit dis kכndyushכn kin gεt difrεnt fכ it εn brith we dεn bigin. Bɔt sɔntɛnde, dɛn tin ya kin bɛtɛ afta sɔm tɛm. Bɔt bɔku pikin dɛn nɔ kin ebul fɔ tɔk ɔ waka fɔ dɛnsɛf we dɛn big.

Naw, no mɛrɛsin nɔ de fɔ PURA sindrom. Bɔt di rayt tritmɛnt kin ɛp yu ɛn yu pikin fɔ kɔntrol di sik dɛn ɛn ridyus di prɔblɛm dɛn we kin apin. So i rili impɔtant fɔ no dis sik kwik kwik wan .

Udat kin gɛt PURA sindrom?

PURA sindrom na wan sik we dɛn bɔn wit . Dis min se di kכndyushכn kin de we dεn bכn am. I kin afɛkt di nervɔs sistɛm. Sɔntɛnde, di sik kin pas frɔm mama ɛn papa to pikin dɛn tru di jin dɛm. Bɔt i impɔtant fɔ mɛmba se pikin kin gɛt PURA sindrom ilɛksɛf nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo . Dis min se nyu jin muteshon kin dɔn apin.

Us ɔda tin dɛn we fiba dis?

Di sayn dɛm fɔ PURA sindrom kin tan lɛk ɔda sik dɛm, so sɔmtɛm i kin at fɔ mek dɔktɔ no wantɛm if na PURA sindrom. Na sɔm kayn sik wae gɛt di sem kayn sayn dɛm:

• `(Angelman sindrom)`
• Congenital central hypoventilation syndrome - Dis na wan sik bak we nɔ kin apin so ɔltɛm we kin afɛkt di we aw pɔsin de blo.
• Myotonic dystrophy - dis de pan wan grup fכ sik dεm na di mכskul sistεm we dεn kכl mכskul distrofi.
• Sik dɛm wae gɛt fɔ du wit nyurotransmit - fɔ ɛgzampul, Alzaima sik ɔr Pakinsin sik.
• Pitt-Hopkins syndrome - Dis na bak wan jεnεtik sik we nכ kin kam wit divεlכpmεnt delay εn εpilepsy.
• `(Prader-Willi sindrom)`
• `(Rɛt sindrom)`

Bikɔs dɛn sik ya fiba , dɛn nid fɔ du spɛshal tɛst fɔ no di sik kɔrɛkt wan .

Ɔda nem dɛn de fɔ PURA sindrom?

Yɛs, sɔntɛnde dɔktɔ dɛn kin kɔl dis sik wit ɔda sayɛns nem dɛn. I fayn fɔ no smɔl bɔt dat bak, nɔto so? Fɔ ɛgzampul:

• `(Intelektual divεlכpmεnt dilay, כtosom dכminant 31)`
• `(PURA-rilayt nyurodivεlכpmεnt dizכrd)`
• `(PURA-rεlatεd siriכs nyu bεlε haypotonia-seizures-εnεsεfalopati sεndrכm)`

Pan ɔl we i kin tan lɛk se dɛn nem ya kɔmplikt smɔl, dɛn ɔl de tɔk bɔt di sem kɔndishɔn.

Aw kɔmɔn tin na PURA sindrom?

PURA syndrome na rili wan sik we nɔ kin bɔku . Te naw, dɛn dɔn ripɔt se i pas 470 big pipul ɛn pikin dɛn we gɛt dis sik ɔlsay na di wɔl. Imajin, na so pipul dɛn nɔ bɔku. Di mɛdikal fil fɔs bigin fɔ tɔk bɔt dis sik insay 2014. Dat min se na nyu sik.

Wetin na di rilayshɔn bitwin PURA sindrom ɛn epilepsy?

Bɔrku pipul dɛm wae dɛn bɔn wit PURA syndrome kin gɛt bɔrku risk fɔ gɛt epilepsy . Sɔmtɛm dis kin bi wan kayn epilepsy wae nɔr de ansa to mɛrɛsin. Dis min se i nɔ kin izi fɔ kɔntrol am wit mɛrɛsin. Di kayn sik wae kin kam pan pɔrsin na fɔkal sik ɔr jɛnɛral sik. Dɛn sayn ya kin bigin we dɛn smɔl ɔ we dɛn smɔl .

Wetin na di tin dɛm wae kin mek pɔrsin gɛt PURA syndrome? (insay smɔl mɔ ditel)

as wi bin dכn tכk bכt, di mεn kכz fכ PURA sεndrכ m na di mכtεshכn insay wan spεsifi k jin na wi bכdi we dεn kכl `(PURA jin)`. dis `(PURA)` jin de ple wan rili imכtant rol fכ nכmal bren divεlכpmεnt. so, we difεkt de na dis jin, i kin afekt di divεlכpmεnt fכ di nεv sεl dεm `(nyuron)` εn di fכmeshכn fכ wan sכbstans we dεn kכl `(myelin)`. `(Myelin)` na tin we de kכba wi nεv dεm εn de εp signal dεm fכ travul tru dεm kwik kwik wan. So imajin aw di bren in wok kin afɛkt we dis prɔses ambɔg.

Wetin na di sayn dɛm fɔ PURA syndrome?

Di sayn dɛm fɔ PURA sindrom kin afɛkt difrɛn pat dɛm na di bɔdi. Pikin dɛn we dɛn bɔn wit dis sik kin gɛt mɔdaret to siriɔs disabiliti fɔ lan ɛn dɛn kin delay fɔ divɛlɔp .

Di sayn dɛm we yu kin si pan pikin dɛm we dɛn jɔs bɔn:

• Bɔku tɛm i nɔ kin izi fɔ it ɔ fɔ blo .
• I kin nid fɔ gɛt mɛrɛsin (fɔ gi pikin tin fɔ it ɔ fɔ blo) bɔt di prɔblɛm dɛn we kin apin we pɔsin de blo kin bɛtɛ insay wan ia.
• I nɔ izi fɔ it ɔ swɛla (dysphagia) sɔntɛnde i kin bi we nɔ de mɛn ɛn i kin de fɔ pas wan ia.

Di sayn dɛm wae yu kin si pan pikin dɛm wae dɔn big smɔl:

• Yu nɔ go ebul fɔ waka fayn , ɛn yu nɔ go ebul fɔ waka fayn.
• Ivin if yu ɔndastand di langwej, yu nɔ go ebul fɔ tɔk am .
• Ilɛksɛf dɛn ebul fɔ tɔk, dɛn kin tɔk to dɛnsɛf wit rili shɔt wɔd dɛn ɔ wɔd dɛn .

Bɔrku pipul dɛm wae gɛt PURA sindrom kin gɛt sik wae de mɛk dɛn sik (epilepsy) ɔr kin gɛt kɔnvulsiv muvmɛnt. Bɔku tɛm, dɛn tin ya na:

• i kin bigin bifo i ol 5. I kin bigin fכs as di mכsul dεm we nכ de twich (myoclonus).
• I at fɔ kɔntrol .
• sכmtεm i kin divεlכp to wan siriכs εn kכmpleks fכm fכ epilepsy we dεn kכl ``Lennox-Gastaut syndrome''.

Ɔda kɔmɔn sayn dɛm wae dɛn kin si pan pikin ɛn big pipul dɛm:

• Bɔn ɛn jɔyn prɔblɛm - lɛk hip displasia ɛn skɔliosis.
• Prɔblɛm fɔ blo - we yu de swɛla we yu de slip (slip apnea) ɔ we yu de blo sloslo, shalo (haypoventilation).
• I nɔ kin izi fɔ mek di bɔdi wam (haypothermia).
• Taya pasmak ɛn slip (hypersomnia).
• Prɔblɛm dɛn na di yay - lɛk strabismus.
• Hiccups we kin de ɔltɛm.
• di gεstrointestinal sistεm prכblεm dεm - lεk kכnstεpshכn.
• Lɔw mɔsul tɔyn (haypotonia).
• Nɔ stebul balans ɔ i nɔ kin izi fɔ waka (gait disorder).
• Di we aw pɔsin nɔ de si fayn.

Di sayn dɛm we nɔ kin bɔku:

• At we nɔ fayn.
• di εndokrin sistεm prכblεm dεm - lεk we yu nכ gεt vaytam in D כ we i de bכn bifo.
• Prɔblɛm dɛn we de na di urinary ɛn riprodaktiv sistɛm.

Aw dɛn kin no se pɔsin gɛt PURA sindrom?

PURA sindrom kin tranga fɔ no bay we yu du ɛgzam na yu bɔdi nɔmɔ. As wi bin dɔn tɔk bifo tɛm, di sayn dɛm kin falamakata ɔda tin dɛm. So, dɔktɔ dɛn nid fɔ du tɛst fɔ no if na PURA sindrom .

Di dɔktɔ kin du sɔm ɔda tɛst dɛn bak, i kin dipen pan di sik we yu pikin gɛt. Fɔ ɛgzampul:

• Blɔd tɛst dɛn.
• Test fɔ mek yu ebul fɔ blo.
• `(EEG)` (Electroencephalogram) - dis de tεst di ilektrikal aktiviti fכ di bren.
• Wan ay ɛgzam.

Fɔ no mɔ, yu dɔktɔ kin ɔda bak fɔ mek dɛn du imej tɛst. Dɛn tin ya na:

• MRI (Magnetik Rizɔnans Imej) skan.
• `(Ɔltrasaund tɛst)`.
• `(X-ray)` tɛst.

Yu tink se mɛrɛsin de fɔ PURA sindrom?

Dis na di big prɔblɛm fɔ bɔku pipul dɛn. Fɔ tɔk tru, naw, no kɔmplit mɛrɛsin nɔ de fɔ PURA sindrom.. Bɔt if yu no am kwik kwik wan ɛn trit yu, dat kin mek yu nɔ gɛt prɔblɛm dɛn lɛk skɔliosis. Dɔktɔ dɛn kin tɛl yu bɔt tritmɛnt dɛn we go ɛp yu ɛn yu pikin fɔ kɔntrol di sik dɛn. If yu gi yu pikin di rayt tritmɛnt, i go ebul fɔ tek pat pan bɔku tin dɛn ɛn mek layf izi smɔl .

Udat dɛn kin de na di tritmɛnt tim fɔ yu pikin in PURA sindrom?

If yu pikin gɛt PURA sindrom, di mɛdikal tim we de trit dɛn kin gɛt difrɛn spɛshal pipul dɛn. Dis min se nɔto wan dɔktɔ nɔmɔ de, bɔt bɔku pipul dɛn de wok togɛda fɔ gi yu pikin di bɛst tritmɛnt. Dis kayn tim kin gɛt pipul dɛn lɛk:

• Wan dɔktɔ we de mɛn yu yay.
• Wan pɔsin we sabi bɔt di jɛnɛtiks.
• Dɔktɔ we spɛshal pan di nervous system (neurologist).
• Occupational therapist - pɔrsin wae de ɛp wit ɛvride wok.
• Wan dɔktɔ we de mɛn ɔtpidik.
• Wan dɔktɔ we de mɛn pikin dɛn.
• Fyzikal thɛrapist na pɔrsin wae de ɛp wit tin dɛm lɛk fɔ waka ɛn muv.
• Dɔktɔ we spɛshal pan di we aw pɔsin de blo (pulmonologist).
• Wan dɔktɔ we de stɔdi bɔt aw pɔsin kin tɔk ɛn langwej.

Ɔl dɛn pipul ya kin wok togɛda fɔ mek wan tritmɛnt plan we go fayn fɔ di pikin in kɔndishɔn.

Aw dɛn kin trit PURA sindrom?

Di tritmɛnt fɔ PURA sindrom kin difrɛn difrɛn wan fɔ di pikin in sik ɛn aw i siriɔs . If pikin we dɛn jɔs bɔn gɛt PURA sindrom, bɔku tɛm dɛn go nid fɔ de wach dɛn na ɔspitul ɛn gi dɛn ɛp fɔ it ɛn blo.

Dɛn kin trit big pikin dɛn lɛk dis:

• Tɔk ɛn langwej tɛrapi - Impruv di kɔmyunikeshɔn skil dɛm.
• Fizik tɛrapi - Impruv fɔ muv.
• Sɔntɛnde, dɛn kin du ɔpreshɔn fɔ kɔrɛkt di fes, at, skel, ɔ ɔda tin dɛn we nɔ fayn.

Yu kin gi yu pikin tin dɛn bak lɛk:

• Mɛrɛsin dɛn we de mek pɔsin nɔ gɛt sik.
• Di tin dɛn we de ɛp fɔ tɔk to pipul dɛn.
• Sɔpɔt fɔ it ɔ swɛla.
• Fizik ɛn wok tɛrapi.
• Tɔk ɛn langwej tɛrapi.
• Di tin dɛn we de ɛp - lɛk adaptiv strola, bres, ɔtotik, waka, ɔ wilchia.

Wetin a kin du fɔ ridyus di risk fɔ mek mi pikin gɛt PURA syndrome?

Dis na sɔntin we bɔku mama ɛn papa dɛn kin tink bɔt. Bɔt di tru tin na dat, no we nɔ de fɔ mek dɛn nɔ gɛt PURA syndrome . Bak,I nɔ de bikɔs ɔf ɛnitin we yu de du. i de kכz fכ di jεnεtik chenj dεm (mכtεshכn) we de apin we di pikin de divεlכp. So nɔ fil gilti fɔ dat.

Wetin na di luk fɔ pikin we gɛt PURA sindrom?

PURA sindrom na wan sik we de ɔlsay na in layf, we nɔ go ebul fɔ mɛn . Bɔku pikin dɛn kin gɛt mɔdaret to siriɔs disabiliti fɔ lan ɛn dɛn kin delay fɔ divɛlɔp. Bɔku pan dɛn nɔ kin ebul fɔ tɔk ɔ waka fɔ dɛnsɛf . Bɔt mɛmba se if yu gɛt fayn tritmɛnt dɛn, dat kin mek yu pikin gɛt bɛtɛ layf . If dɛn gɛt tritmɛnt, dɛnsɛf kin gladi ɛn divɛlɔp to dɛn ɔl.

Ustɛm a fɔ go to dɔktɔ fɔ advays mi pikin?

Fɔ no PURA sindrom kwik kwik wan impɔtant fɔ manej di simptom dɛm ɛn ridyus di risk fɔ kɔmplikeshɔn dɛm . I go mɔs bi se dɔktɔ dɛn go de chɛk yu pikin ɔltɛm fɔ no if yu pikin gɛt wɛlbɔdi ɛn di sik dɛn we i gɛt. Yu dɔktɔ go ɛp yu fɔ mek wan plan fɔ kia fɔ yu pikin we go mit yu pikin in nid ɛn gol dɛn.

Na nɔmal tin fɔ fil bad ɛn wɔri we yu gɛt diagnosis lɛk PURA syndrome. Dis na wan jɛnɛtik disɔda we nɔ kin apin so ɔltɛm we kin afɛkt di nervɔs sistɛm, we kin mek i nɔ ebul fɔ lan bad bad wan, i kin mek i nɔ ebul fɔ gro fayn, ɛn bɔku tɛm i kin gɛt ɛpilepshi. Bɔt if yu gɛt di rayt kɔmbayn tritmɛnt, yu pikin go gɛt bɛtɛ layf . Tɔk to yu dɔktɔ bɔt di fayn tritmɛnt dɛn we kin mek difrɛns as yu pikin de gro. Nɔto yu wan , ɛn dɔktɔ, tritmɛnt pipul dɛn, ɛn bɔku ɔda pipul dɛn de we go ɛp yu pan dis waka.

Fɔ dɔn, di impɔtant tin dɛn we yu fɔ mɛmba (Take-Home Message) .

Pan ɔl we PURA sindrom na wan sik we nɔ kin apin so ɔltɛm, i rili impɔtant fɔ no bɔt am.

• Dis kin mɔs afɛkt di nervɔs sistɛm ɛn i kin mek pɔsin gɛt tin dɛn lɛk we i nɔ de gro fayn, i nɔ kin ebul fɔ lan fayn, ɛn i kin gɛt ɛpilepshi.
• If yu no di pikin kwik kwik wan ɛn bigin fɔ gi am di rayt tritmɛnt, dat kin ɛp fɔ mek di pikin in layf bɛtɛ.
• Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, difrɛn tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ ridyus di prɔblɛm dɛn we kin apin .
• Wan tim we gɛt dɔktɔ dɛn we kɔmɔt na difrɛn spɛshal pipul dɛn kin wok togɛda fɔ gi di pikin di tritmɛnt we i nid.
• No we nɔ de fɔ mek dis tin nɔ apin, ɛn as mama ɛn papa, una nɔ nid fɔ fil gilti fɔ dis .
• If yu gɛt ɛnitin fɔ wɔri bɔt yu pikin in divɛlɔpmɛnt ɔ wɛlbɔdi, nɔ panik ɛn go to dɔktɔ wantɛm wantɛm . Dat na di bɛst tin we yu go ebul fɔ du.

Mɛmba se ɔl pikin gɛt valyu, ɛn ɛni pikin fit fɔ lɛ dɛn lɛk am ɛn kia fɔ am di bɛst we.

`PURA sεndrכm, jεnεtik sik dεm, nεv sεstem, divεlכpmεnt dεlay, εpilepshכn, pikin hεlth, sik dεm we nכ kin apin