yu pikin in bren "smooth"? Mek wi tɔk bɔt Lissencephaly!

yu don yehri se dem bohn pikin wit "smooth brain"? Sɔntɛm yu bin de fred smɔl we yu yɛri dɛn wɔd ya. Tide, lɛ wi tɔk jɔs bɔt wetin dis sik we dɛn kɔl `Lissencephaly` rili bi, wetin mek i kin apin, ɛn aw i kin afɛkt di pikin. Pan ɔl we dis na tɔpik we kɔmplikt smɔl, a go ɛksplen am di we we yu go ɔndastand.

Wetin na `Lissencephaly`?

Fɔ tɔk am simpul wan, `Lissencephaly` min ``smooth bren.`` Dis na wan rili rare ɛn siriɔs bren malfɔmeshɔn. I de divεlכp we di pikin stil de na di bεlε.

Tink bɔt am, wi bren tan lɛk walnut, nɔto so? I gɛt bɔku fold (gyri) ɛn grov (sulci). Dɛn fold ɛn grov ya rili impɔtant. Dɛn kin sheb di difrɛn pat dɛn na di bren, ɛn dɛn kin mek di bren bɔku, ɛn dis kin ɛp wi fɔ gɛt sɛns ɛn fɔ tink.

naw, insay pikin we gεt `Lissencephaly`, dεn `gyri` εn `sulci` dεm ya nכ de divεlכp fayn fayn wan na di bren. Dɔn di bren kin luk rili smol. Lɛk wan bod we smol smol. na dat mek dεn kכl am "smooth bren" .

Lissencephaly kin kam insay bɔku kayn we. I pas 20 men kayn dɛn. Bɔt bɔku tɛm dɛn kin sheb dɛn tin ya to tu men grup dɛn:

• Klasik lisɛnsɛfali (Tayp 1) .
• Kɔblston lisɛnsɛfali (Tayp 2 ) .

Pan ɔl we di sayn dɛn we dɛn tu grup ya kin gɛt kin fiba smɔl, di chenj dɛn we kin apin to dɛn jɛnɛtiks we kin mek dɛn gɛt dis sik kin difrɛn.

Sɔmtɛm `Lissencephaly` kin apin in wan, dat na, wit ɔda sayn dɛm. Wi kin kɔl dis `isolated lissencephaly`. כda tεm dεm, i kin apin tכgeda wit כda kכndyushכn dεm (`syndromes`) lεk `Miller-Dieker syndrome` כ `Walker-Warburg syndrome`.

Bɔku tɛm pikin dɛn we gɛt lissencephaly kin gɛt bɔku divɛlɔpmɛnt delay ɛn dɛn kin gɛt prɔblɛm wit dɛn maynd . Bɔt dis kin difrɛn frɔm wan pikin to ɔda pikin, i kin dipen pan aw di sik kin tranga.

Udat kin gɛt Lissencephaly? Aw i kɔmɔn?

Lisensεfali de afekt di pikin dεm we de divεlכp . i kin kam bitwin 12 εn 24 wiks we uman bεlε. Bɔku tɛm, na bikɔs ɔf di chenj dɛn we de apin na di jɛnɛtiks. Bɔt i kin bi bak bikɔs ɔf tin dɛn we nɔto jɛnɛtiks.

Dis na tin we nɔ kin apin so ɔltɛm . Di wan dɛn we de stɔdi bɔt dis tɔk se na wan pan ɛvri 100,000 pikin dɛn nɔmɔ dɛn kin bɔn wit Lisɛnsɛfali. So nɔ fred dis, bɔt i fayn fɔ mek yu no.

Us simptom dεm we pikin we gεt `Lissencephaly` de sho?

De sayn dɛm wae de sho se pɔrsin gɛt lissencephaly kin difrɛn bad bad wan. E kin dipen ɔl pan aw de sik kin tranga ɛn if i gɛt fɔ du wit ɔda mɛrɛsin. Sɔm pikin dɛn kin divɛlɔp nɔmal wan wit smɔl smɔl disabiliti dɛn nɔmɔ fɔ lan. Wae ɔda pipul dɛn kin gɛt sɔm kayn sik wae kin rili bad. Di kayn we aw dɛn sik ya kin tranga kin difrɛn bak.

So, i rili impɔtant fɔ tɔk to yu dɔktɔ bɔt wetin fɔ ɛkspɛkt dipen pan di kayn lissencephaly we yu pikin gɛt.

Sɔm pan di sayn dɛm fɔ `Lissencephaly` na:

• Seizure: Nayn pan tɛn pikin dɛm wae gɛt lissencephaly kin gɛt epilepsy insay di fɔs ia wae dɛn de liv. Dis na di sayn wae kin kam pan pɔrsin.
• I nɔ kin izi fɔ swɛla (dysphagia) ɛn it: Di pikin kin gɛt prɔblɛm fɔ sok ɛn swɛla it.
• Di divεlכpmεnt delay: di pikin nכ kin divεlכp lεk aw dεn bin de εkspεkt fכ in ej. Tin dɛn lɛk fɔ smayl, fɔ ol dɛn ed ɔp, fɔ rɔl, ɛn fɔ sidɔm kin delay.
• Mental disabiliti ɛn difrɛns pan lanin: Di divɛlɔpmɛnt pan intɛlektual kin afɛkt.
• di mכsul dεm we de spam: di mכsul dεm kin spam εn twitch kin apin.
• Isyu dεm wit saykomotכr fכnshכn dεm: I kin tranga fכ di an-ay kכdכnayshכn, waka, εn fכ ol tin dεm.
• I nɔ kin ebul fɔ gro fayn: Di pikin in bɔdi kin rili slo. Sɔntɛm dɛn nɔ go gɛt mɔ wet ɛn dɛn kin stil tan lɛk tin.
• di ed we sכm pas nכmal (maycrocephaly): di ed kin sכm pas nכmal fכ di ej.
• Difrɛns we yu bɔn wit yu an ɛn fut: Dɛn kin bɔn yu wit sɔm difrɛns na yu an, finga, ɛn fut finga dɛn.

Wetin mek `Lissencephaly` kin apin? Wetin na di tin dɛn we kin mek i apin?

Lissencephaly kin bi bikɔs ɔf ɔl tu di jɛnɛtik ɛn nɔr jɛnɛtik tin dɛm. bכku tεm i kin divεlכp na di bεlε, bitwin 12 εn 24 wiks we di bεlε de.

fכ simpul wan, dεn kכz dεm ya de bi fכ di nyuronal maygrεshכn we de na di כta pat pan di pikin in bren (nyuronal sεl dεm) we nכ de wok fayn. Tink bɔt am, di pat na wi bren we de mek wi no se wi de muv ɛn tink, dɛn kɔl am di sɛribra kɔtɛks. I kin gɛt dip fold (gyri) ɛn grov (sulci), nɔto so?

as di pikin in bren de divεlכp na di bεlε, nyu sεl dεm de fכm, we leta bi spεshal nεv sεl dεm εn muf go na di pikin in bren. dis dεn kכl am `nyurכnal maygrεshכn`. dis we ya, difrεn layεr dεm fכ sεl dεm de fכm. dis layεr dεm de fכm di `gyri` (fold dεm).

bכt insay di kes fכ `Lissencephaly`, dεn sεl dεm ya nכ de go usay dεn nid fכ go. afta dat di pikin in `sεribral kכtεks` nכ de fכm inof layεr dεm fכ sεl dεm. biכs fכ dis, dεn `gyri` (fold dεm) de mis כ dεn nכ de divεlכp.

Kɔz dɛn we nɔto jɛnɛtiks

Pan ɔl we i nɔ kin apin so ɔltɛm, tin dɛn we nɔto jɛnɛtiks kin mek bak pɔsin gɛt lissencephaly.

• di vayral infεkshכn dεm na di mama we bεlε כ di pikin we de bכn: sכm vayral infεkshכn dεm, spεshal wan insay di fכs tri mכnt dεm we di bεlε de (di fכs to di twεv wik), kin afekt di pikin we de bכn.
• di bכdi we gεt כksijεn de dכn to di pikin in bren (ischemia): dis kכndyushכn kin apin if di כksijεn we di bren de gεt dכn dכn as di pikin de divεlכp insay di bεlε.

Di tin dɛn we kin mek pɔsin gɛt jɛnɛtiks

Bɔrku tɛm na di jɛnɛtik muteshɔn kin kam wit lisɛnsɛfali . jεnεtik mכtεshכn na di chenj we de apin na di sikεns fכ wi DNA. yu no se wi DNA sikεns na in de gi wi sεl dεm di infכmeshכn we dεn nid fכ du dεn wok. So if pat pan dis DNA sikεns nכ kכmplit כ dεm dεm, simptom dεm fכ wan jεnεtik kכndishכn kin apin.

Bebi kin gɛt dis chenj na in jɛnɛtik frɔm wan pan in mama ɔ papa ɔ ɔl tu in mama ɛn papa. I dipen pan aw di chenj we di jεnεtiks chenj de gεt. bכt sכmtεm dεn jεnεtik chenj dεm ya kin apin `randomly`, we nכnכbodi na di famili nכ bin gεt dis kכndyushכn bifo.

Sayɛnsman dɛn dɔn no bɔku jin dɛn we kin mek pɔsin gɛt lisɛns. Sɔm pan dɛn na:

• `LIS1` (`PAFAH1B1`) jin: wan chenj (`mכtεshכn`) כ wan lכs pan pat (`dεlishכn`) fכ dis jin de sho se i gεt `isolated lissencephaly` εn bak `Miller-Dieker syndrome`.
• `DCX` jin: Dis na jin we de na di `X` kromozom. as yu no, man dεm gεt wan `X` kromozom εn wan `Y` kromozom. fכ dat, man pikin dεm kin gεt `Lissencephaly` bikoz fכ dis jεnεtik mכtεshכn. biכs uman pikin dεm kin gεt tu `X` kromozom dεm, ivin if dεn gεt dis kכndyushכn, di simptom dεm bכku tεm nכ kin siriכs.
• `ARX` jin: Bebi dεm we gεt mכtεshכn na dis jin gεt `Lissencephaly` wit כda simptom dεm. fכ egzampl, di absכns כf pat dεm na di bren (`agenesis of the corpus callosum`), abnכmaliti dεm na di jεnital dεm, εn siriכs εpilepsi. di `ARX` jin de bak pan di `X` kromozom. So, na man pikin dεm kin afekt am mכst.
• `RELN` jin: wan mכtεshכn na dis jin de mek wan kכndyushכn we dεn kכl `Norman-Roberts syndrome`, we inklud bak `Lissencephaly`.

Aw dɛn kin no se pɔsin gɛt Lisɛnsɛfali?

Sɔntɛnde, dɔktɔ dɛn kin sɔprayz se i gɛt lissencephaly we uman gɛt bɛlɛ if sɔmbɔdi na di famili dɔn gɛt dis sik bifo, ɔ if dɛn du ɔltra saund skan we i gɛt bɛlɛ de mek pipul dɛn wɔri. if na so i bi, dεn kin no am tru spεshal tεst dεm we uman bεlε, lεk amniocentesis, εn fεtal magnεtik rεsכnans imej (MRI) skan fכ di pikin in bren.

if nכto dat, dכkta dεn kin no se i gεt `Lissencephaly` afta dεn bכn di pikin, tru fכ egzamin di pikin in fכs εn `imaging test` fכ di ed.

wit dεn imej tεst dεm ya, dכkta dεm de luk fכ si if di `sulci` (grכv) εn `gyri` (fold) dεm we de na di pikin in bren nכ de כ dεn dכn dכn, εn if di `sεribra kכtεks` (sεribra kכtεks) tik.

Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt `Lissencephaly`?

If yu dɔktɔ sɔspɛkt se yu gɛt lisɛns, ilɛksɛf na yu famili histri ɔ di rizɔlt we dɛn dɔn du we dɛn du ɔltra saund skan we yu gɛt bɛlɛ, i kin tɛl yu fɔ du sɔm spɛshal tɛst dɛn we yu gɛt bɛlɛ. Dɛn tin ya na:

• di tεst fכ di pikin in DNA we nכ gεt sεl: dis involv fכ separet di mama εn di pikin in DNA frכm wan sεmpl fכ di mama in bכdi. afta dat dεn de tεst dis DNA na labכtכri fכ si if chans de fכ εni kromozom prכblεm.
• Amniocentesis: dis na tεst we dεn kin du insay di sεkכn כ tכd trimεst we di bεlε de. insay dis tεst, dכkta de yuz wan tint nidul fכ pul sכm sכm sכm sכm wata we de na di amniotik sak we de rawnd di pikin. Dɔn dɛn kin tɛst dis sɛmpul fɔ wata na lɛbɔtri. amniocentesis kin no di jεnεtik kכndishכn dεm εn mכtεshכn dεm we de mek kכndishכn dεm lεk lissencephaly.
• Chorionic villus sampling (CVS): Insay dis tεst, dכkta de tek sεmpl fכ tisu we dεn kכl chorionic villi frכm yu plasεnta. dis sεmpl kin tek am tru di sεviks (transabdominal) כ tru di bכdi wכl (transabdominal). di chorionic villi na sכm sכm tin dεm we lεk fכ finga na di plasεnta. Dɛn gɛt di pikin in yon jɛnɛtik matirial. dis CVS tεst kin fכ no if di pikin gεt kromozom kכndishכn כ כda jεnεtik kכndishכn.

Dɔktɔ dɛn kin yuz imej tɛst lɛk dɛn wan ya fɔ no if i gɛt lisɛns afta dɛn bɔn pikin:

• Ɛd ɔltrasɔund: Ɔltrasɔund na tɛst we nɔ de ambɔg pɔsin we de yuz ay frikyuɛnsi sawnd wev fɔ mek rial tɛm pikchɔ ɔ fim bɔt di ɔgan dɛn we de insay, lɛk di bren.
• Hɛd kɔmpyuta tomografi (CT skan): .CT skan na tɛst we dɛn kin yuz kɔmpyuta ɛn ɛkstrem rayt fɔ mek bɔku tri-dimɛnshɔnal (3D) pikchɔ dɛn fɔ di pat pan di bɔdi we dɛn de chɛk, insay dis kes yu pikin in ed ɛn in bren.
• Magnɛtik rɛsɔnans imej (MRI) bren skan: MRI skan na tɛst we nɔ gɛt pen we de mek yu gɛt rili klia pikchɔ dɛn bɔt di strɔkchɔ ɛn tisu dɛn na yu pikin in bren. MRI kin yuz big magnet, redio wev, ɛn kɔmpyuta fɔ mek dɛn pikchɔ dɛn ya we gɛt difrɛn difrɛn tin dɛn. I nɔ de yuz ɛkstrem rayt.

Yu dɔktɔ kin ɔda bak fɔ mek dɛn du EEG (Electroencephalogram) tɛst fɔ yu pikin. EEG de mכsu εn rεkכd di ilektrikal signal dεm na yu pikin in bren. We dɛn de du EEG, wan tɛknishian kin put smɔl smɔl mɛtal plet dɛn (ilɛktrod) na yu pikin in ed. Dɛn kin kɔnɛkt dɛn ilɛktrɔd ya to wan mashin we de gi di dɔktɔ infɔmeshɔn bɔt aw yu pikin in bren de wok.

fכ kכnfכm di diagnosis, dכkta dεm de yuz DNA stכdi, lεk kromozom analisis εn spεsifi k jin mכtεshכnal analisis, fכ no di jεnεtik chenj we rispansabl fכ lisεnsεfali.

Aw dɛn kin trit Lisɛnsɛfali?

Infakt, naw, no mɛrɛsin ɔ tritmɛnt nɔr de fɔ lisɛnsɛfaly. Bifo dat, dɔktɔ dɛn kin trit di patikyula sayn dɛn we ɛni pikin gɛt we gɛt lisɛns.

Dɛn tritmɛnt ya kin nid fɔ mek wan tim we gɛt difrɛn spɛshal pipul dɛn wok togɛda, lɛk:

• Di dɔktɔ dɛn we de mɛn pikin dɛn
• Di wan dɛn we de stɔdi bɔt nyurolɔji
• Gastroenterologists (spɛshal pipul dɛn na di dijestiv sistɛm) .
• Di wan dɛn we sabi bɔt it
• Di wan dɛn we de mɛn pipul dɛn we de blo
• Di wan dɛn we de mɛn pipul dɛn we de mɛn dɛn wok ɛn di wan dɛn we de mɛn dɛn bɔdi

Pipul dɛn lɛk dat kin de insay.

Di tritmɛnt dɛn we dɛn kin yuz:

• di mεtכd dεm fכ mek i izi fכ pikin dεm we gεt difεlεns fכ it fכ gεt nyutriεnt: fכ egzampl, fכ it tru wan tכb insay di bεlε (`gastrostomy tube' - G-tube') εn/כ tεrapi fכ tכk εn sכlow (`speech and swallowing therapy').
• Anti-seizure medications: Na mɛrɛsin dɛn we dɛn kin gi fɔ kɔntrol di sik we pɔsin kin gɛt.
• Okyupashכn εn fyzikal tεrapi fכ εp fכ mכtalman divεlכpmεnt εn mכsul dεm trεnk: Tin dεm lεk εksεsayz fכ εp fכ bכdi trεnk εn muvmεnt.
• fכ put vεntrikulopεritoneal (VP) shunt fכ kכntrכl haydrosεfal: Na sכm sכm כpεrayshכn fכ ridyus di akyumyuleshכn כf εkstra wata na di bren.

If yu pikin gɛt lissencephaly, i go mɔs bi se yu dɔktɔ go tɛl yu fɔ advays yu bɔt in jɛnɛtiks.Rifer to.

Wetin na di prɔgnosis fɔ pikin we gɛt lissencephaly?

Di we aw pikin we gɛt lisɛns kin si kin difrɛn bad bad wan dipen pan aw di sik kin tranga ɛn if i gɛt fɔ du wit ɔda sik dɛn we pɔsin kin gɛt . Bɔrku pikin dɛm wae gɛt lissencephaly kin stil de na dɛn fɔs divɛlɔpmɛnt stej. Dis min se dɛn nɔ go ebul fɔ du bɔku tin dɛn fɔ dɛnsɛf.

Bɔt sɔm pikin dɛn kin divɛlɔp nɔmal wan wit smɔl smɔl difrɛns pan lanin, so nɔ giv ɔp op.

Di tritmɛnt dɛn we dɛn kin gi kwik kwik wan, we dɛn kin kɔntinyu fɔ mɛn kin rili ɛp sɔm pikin dɛn. Dɛn tritmɛnt ya na:

• Fizik tɛrapi
• Ɔkupeshɔn tɛrapi
• Tɛrapi fɔ tɔk
• Vishɔn tɛrapi

Tin dɛn lɛk dis kin de insay.

Bɔrku pikin dɛm wae gɛt lissencephaly kin gɛt fɔ tek mɛrɛsin ɛvride fɔ mek dɛn nɔ gɛt epilepsy ɛn fɔ trit ɔda prɔblɛm dɛm.

Wetin na di layf we pikin we gɛt lissencephaly kin liv?

Di avrej layf we pikin we gɛt lissencephaly kin liv kin shɔt. Bɔku pikin dɛn kin day bifo dɛn ol 10. Di men tin dɛn we kin mek di wan dɛn we gɛt lissencephaly day na we dɛn de aspireshɔn ɛn di sik we dɛn kin gɛt we dɛn de blo .

Wetin a fɔ ɛkspɛkt if mi pikin gɛt `Lissencephaly`? / Aw a go tek kia ɔf mi pikin?

De tin wae impɔtant pas ɔl fɔ mɛmba na dat, nɔr tu pikin dɛm wae gɛt dis sik kin afɛkt di sem we. Nɔbɔdi nɔ go ebul fɔ tɔk klia wan aw yu pikin go afɛkt. De bɛst tin wae yu kin du fɔ rɛdi fɔ tumara bambay na fɔ tɔk to dɔktɔ dɛm wae spɛshal fɔ du risach ɛn trit lissencephaly.

Fɔ ɛp fɔ kia fɔ yu pikin we gɛt lisɛns, fala di dɔktɔ in instrɔkshɔn dɛn gud gud wan:

• Gi ɔl di mɛrɛsin dɛn lɛk aw dɛn tɛl yu fɔ gi am.
• Du divεlכpmεnt asesmεnt εn tεrapi dεm kכrekt wan.
• Mek shɔ se yu atɛnd ɔl di fɔlɔp mɛdikal visit dɛn.

Lissencephaly kin mek yu gɛt prɔblɛm wit yu maynd, nyurolɔjik, ɛn/ɔ saykomotɔri prɔblɛm. Bɔrku pikin dɛm wae gɛt lissencephaly kin gɛt delay fɔ divɛlɔp ɛn dɛn kin nid ɛp fɔ du tin dɛm ɛvride ɔlsay na dɛn layf.

Yu pikin in mɛdikal tim kin ansa yu kwɛstyɔn dɛn ɛn gi yu sɔpɔt. Dɛn kin ebul fɔ tɛl yu bak bɔt wan sɔpɔt grup we de na yu eria ɔ na di Intanɛt.

Yu tink se dɛn kin ebul fɔ avɔyd Lisɛnsɛfali?

Bɔt i sɔri fɔ no se bɔku pan di kes dɛm we dɛn kin gɛt we dɛn kɔl lissencephaly nɔ kin ebul fɔ avɔyd. If yu de plan fɔ bɔn pikin, .Tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks. Dis go ɛp yu fɔ ɔndastand di risk fɔ mek yu pikin gɛt wan jenɛtik kɔndishɔn lɛk lissencephaly ɔ wan sik we kin kɔmɔt frɔm wan jenɛtik mutation we i gɛt frɔm in mama ɛn papa.

Ustɛm a fɔ si dɔktɔ bɔt `Lissencephaly`?

If dɛn dɔn no se yu pikin gɛt lissencephaly, dɛn fɔ mit wit dɛn mɛdikal tim ɔltɛm fɔ si if dɛn tritmɛnt de wok fayn ɛn aw dɛn de divɛlɔp.

Fɔ ɔndastand aw yu pikin gɛt Lissencephaly diagnosis kin bi tranga wok. Yu mεdikal tim go gi yu wan sכlid tritmεnt plan we de spεshal fכ yu pikin in sik. Di tin we impɔtant pas ɔl na fɔ mek shɔ se yu pikin gɛt di lɔv ɛn sɔpɔt we i nid ɔlsay na in layf, ɛn fɔ no bɔt ɛni nyu sayn we go kam.

Us mɛsej wi want fɔ kɛr go na os frɔm dis stori?

Lissencephaly na wan sik we nɔ kin apin so ɔltɛm ɛn we kin apin we di pikin in bren de gro. insay dis kכndishכn, di nכmal fold dεm εn grov dεm (gyri εn sulci) na di bren nכ de fכm fayn fayn wan, we de mek i "smol" apin.

• Dis kin bi bikɔs ɔf tin dɛn we de mek pɔsin in jɛnɛtiks, ɛn i nɔ kin apin so ɔltɛm, tin dɛn we nɔto jɛnɛtiks .
• Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. Epilepsy, divɛlɔpmɛnt delay, ɛn prɔblɛm fɔ it na tin dɛn we kin apin.
• Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, difrɛn tritmɛnt ɛn tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ mek di pikin in layf bɛtɛ .
• Di tin we impɔtant pas ɔl na fɔ no am di fɔs tɛm, du wetin di dɔktɔ dɛn advays, ɛn gi di pikin di lɔv ɛn sɔpɔt we i nid .
• If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ fred fɔ tɔk to yu dɔktɔ. I kin bi big ɛp bak fɔ jɔyn sɔpɔt grup wit ɔda mama ɛn papa dɛn we gɛt pikin dɛn lɛk dis ɛn sheb ɛkspiriɛns.

Mɛmba se nɔto yu wangren de. Dɔktɔ, tritmɛnt pipul dɛn, ɛn bɔku ɔda pipul dɛn de we go ɛp yu fɔ du dis waka.

` Lissencephaly, sכft bren, bren malfכmeshכn, fetal divεlכpmεnt, jεnεtik mכtεshכn, divεlכpmεnt dilay, εpilepsi