Yu kin ɛva gɛt smɔl kwɛstyɔn ɔ wɔri bɔt aw yu smɔl pikin de gro ɔ aw i de biev? Sɔntɛnde, wi kin fred we dɔktɔ dɛn tɔk bɔt nyu wɔd dɛn ɛn sik dɛn, nɔto so? Wɛl, tide wi go tɔk bɔt wan rare jenɛtik kɔndishɔn we yu nɔ go dɔn yɛri bɔt, bɔt i rili impɔtant fɔ no bɔt. Dɛn kɔl am Pitt-Hopkins Syndrome (PTHS).
Wetin rili na Pitt-Hopkins Syndrome (PTHS)?
Fɔ tɔk am simpul wan, dis na
tin we pɔsin kin gɛt frɔm in jɛnɛtiks . Dat min se na bikɔs di jin dɛn we de na wi bɔdi chenj, we tan lɛk smɔl smɔl tin dɛn we de kɔntrol ɔltin na wi bɔdi. Dis kin afɛkt
di pikin in bren ɛn in nervɔs sistɛm mɔ . So, bikɔs ɔf dis, di pikin in jɛnɛral divɛlɔpmɛnt kin delay, dɛn kin si intɛlektual disabiliti. Apat frɔm dat, dɛn pikin ya kin chenj
sɔm chenj dɛn bak na dɛn fes . Dɛn kin gɛt fɔ bia wit tin dɛn bak lɛk we
dɛn nɔ kin ebul fɔ blo fayn ɛn we dɛn kin gɛt sik .
Dis na pat pan de ɔtizm kɔndishɔn?
Bɔrku pipul kin tink se dis na wan sik wae fiba lɛk ɔtizm spɛktrum disɔda. Pitt-Hopkins syndrome
nɔto rili ɔtizm . Bɔt pikin dɛn we gɛt dis sik kin sho
sɔm pan di sem sayn dɛm lɛk pikin dɛm wae gɛt ɔtizm. So, sɔntɛnde mama ɛn papa ɛn dɔktɔ dɛn kin kɔnfyus smɔl. Bɔt wi nid fɔ ɔndastand se dɛn tin ya na tu difrɛn tin dɛn.
Udat kin gɛt dis sik? Aw i kɔmɔn?
Pitt-Hopkins Syndrome (PTHS)
kin afɛkt ɛnibɔdi . Bɔrku tɛm di sayn dɛm kin bigin fɔ sho we
dɛn smɔl . Bɔt di tin we impɔtant pas ɔl we yu fɔ no na dat dis na
sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks . Jɔs tink bɔt dat,
na lɛk 500 pipul dɛn nɔmɔ na di wan ol wɔl dɔn gɛt dis sik. So, dis na wan kɔndishɔn we nɔ kin apin so ɔltɛm.
Aw dis go afɛkt mi pikin?
Apat frɔm di sayn dɛm we de apin na in bɔdi, pikin we gɛt dis sik kin gɛt bɔku ɔda tin dɛm. Di men wan:
- Di delay fɔ divɛlɔp: Pikin dɛn kin slo fɔ du tin dɛn we fit dɛn ej, lɛk fɔ rɔl, sidɔm, ɛn waka. Yu fil lɛk se yu pikin nɔ de smayl, mek nɔys, ɔ no in mama lɛk ɔda pikin dɛn? Dɛn kɔl dɛn tin ya divɛlɔpmɛnt dilɛys.
- Nɔ ebul fɔ tɔk ɔ dɛn nɔ kin ebul fɔ tɔk bɔku langwej: Sɔm pikin dɛn nɔ kin ebul fɔ tɔk wɔd, ɔ dɛn kin gɛt smɔl wɔd dɛn. Sɔntɛm dɛn kin jɔs ebul fɔ mek sawnd.
- Intɛlektual prɔblɛm: Sɔm prɔblɛm kin de pan di ebul fɔ ɔndastand ɛn lan. I kin tan lɛk se i kin tek sɔm tɛm fɔ lan nyu tin.
- Limitɛd soshal skil dɛm : Sɔntɛm di intres ɛn di ebul fɔ ple ɛn tɔk wit ɔda pipul dɛn nɔ go ebul fɔ du am. Sɔntɛm bak, pɔsin kin lɛk fɔ de in wan.
Wetin na di sayn dɛm fɔ Pitt-Hopkins syndrome (PTHS)?
As wi bin dɔn tɔk, dis sik kin afɛkt di pikin in divɛlɔpmɛnt. Di men sayn dɛm
na fɔ delay fɔ lan fɔ waka ,
fɔ gɛt prɔblɛm wit tɔk ɛn fɔ tɔk to pipul dɛm . Apat frɔm dat, pikin dɛn we gɛt Pitt-Hopkins syndrome kin gɛt
patikyula chenj dɛn bak na dɛn fes shep . Dis min se sɔm pan dɛn fes kin difrɛn smɔl frɔm ɔda pikin dɛn. Fɔ ɛgzampul, dɛn kin gɛt mɔt we big, dɛn lip dɛn kin fat, dɛn nos kin tɔn ɔp, ɛn dɛn yay kin dip. Dɛn kin gɛt bak:
- Kɔnstipɛshɔn : Kɔnstipɛshɔn kin apin bɔku tɛm. Yu fɔ no dis if bɔku tɛm yu pikin kin fil lɛk se i nɔ kin izi fɔ pas in stɔl.
- Epilepsy : Dis min se yu gɛt sik we de mek yu sik . I kin mek yu gɛt kɔnvulshɔn wantɛm wantɛm ɛn yu nɔ kin no natin.
- di mכsul dεm we de wik (Hypotonia): di mכsul dεm de dכn, εn di bכdi kin fil se i nכ gεt layf. Di pikin in bɔdi kin fil bad bad wan.
- Fɔ gɛt smɔl ed (Microcephaly): Di ed kin smɔl pas aw i kin bi fɔ in ej.
- Mayopia (nearsightedness): Pan ɔl we yu kin si tin dɛn we de nia yu, yu nɔ kin ebul fɔ si tin dɛn we de fa fawe klia wan.
- Strabismus (krɔs yay): Di yay nɔ kin ebul fɔ pɔynt di sem say, ɛn wan yay kin tɔn insay ɔ na do.
- I nɔ kin izi fɔ blo ɛn prɔblɛm wit di we aw yu de blo: Sɔntɛnde yu kin gɛt spɛl we kin mek yu nɔ ebul fɔ blo ɔ yu kin blo kwik kwik wan (hyperventilation) . Dis kin apin we yu de slip ɔ we yu wek.
Wetin na di rizin we mek dis kayn tin de apin?
di men kכz fכ dis na
di mכtεshכn na di TCF4 jin.. dis TCF4 jin de kכntro di protin dεm we yu bren εn yu nεv sεstem nid fכ divεlכp. So, if difεkt de na dis jin, i de afekt di pikin in divεlכpmεnt. Naw yu go de wɔnda if dis na sɔntin we kɔmɔt frɔm di mama ɛn papa. Na dis na aw, .
- sכmtεm, if wan pan di mama εn papa gεt dis jin mכtεshכn , 50% chans de fכ di pikin go gεt dis kכndyushכn. dis dεn kכl am כtosom dכminant patεn .
- Bɔt ivin if in mama ɛn papa ɔl tu nɔ gɛt dis jin muteshon , di pikin kin stil gɛt dis jin muteshon. Dat min se, i kin apin we yu nɔ gɛt ɛni famili istri. Dɛn kɔl dis de novo ɔkɔrɛshɔn . So, dis nɔto sɔntin we ɛnibɔdi go ebul fɔ stɔp. Nɔto yu fɔlt, ɛn nɔto ɔda tin.
Aw dɔktɔ dɛn kin no dis?
We dɛn bɔn yu pikin, yu ɛn yu dɔktɔ go notis
sɔm chenj dɛn na di we aw dɛn de luk . Ɔ, as yu pikin de gro, yu dɔktɔ kin notis sayn dɛn fɔ Pitt-Hopkins syndrome we
yu de go to wɛl pikin ɔ we yu de go to wɛl pikin . Dɔn dɛn kin ɔda sɔm
spɛshal tɛst fɔ no if pɔsin gɛt di sik.
Us tɛst dɛn kin du fɔ kɔnfirm dis?
Yu dɔktɔ kin tɛl yu fɔ
du tɛst fɔ yu pikin in jɛnɛtiks . dis involv fכ tek
blכd sεmpl כ
DNA sεmpl frכm swab (sεmpl fכ sεl dεm we dεn tek frכm insay di chεk). afta dat wan jεnεtiks go egzamin di sεmpl fכ si if
mכtεshכn de na di TCF4 jin .
If yu pikin gɛt wan sik lɛk we i de sik, yu dɔktɔ kin ɔda fɔ du tɛst bak lɛk:
- EEG (Electroencephalogram) test: Dis de mכsu di ilektrikal aktiviti na di bren. Jɔs lɛk ECG na di at, i kin gi yu aidia bɔt aw di bren de wok.
- MRI (Magnetic Resonance Imaging) scan: Dis kin tek pikchɔ dɛn na di bren fɔ si if ɛni chenj de.
Wetin na di tritmɛnt dɛm fɔ dis?
Bɔt i sɔri fɔ no se,
no mɛrɛsin nɔ de fɔ Pitt-Hopkins Syndrome (PTHS). Bɔt dɛn
kin trit di sayn dɛm fɔ dis sik . Dis min se wi kin ɛp fɔ ridyus di diskɔmfɔt we yu pikin kin gɛt ɛn mek dɛn layf izi smɔl. Yu kin tɔk to yu dɔktɔ fɔ si if yu pikin nid di savis fɔ dɛn spɛshal pipul ya:
- Gastroenterologist: Fɔ prɔblɛm dɛn lɛk kɔnstipɛshɔn.
- Nyurolɔjis: Fɔ tin dɛm lɛk fɔ sik ɛn fɔ wik pan mɔsul dɛm.
- Ɔftalmolɔg: Fɔ prɔblɛm dɛn we gɛt fɔ du wit yu yay.
- Pulmonologist: Fɔ di wan dɛn we nɔ ebul fɔ blo fayn.
Yu pikin in mɛdikal tim go wok togɛda fɔ mek
wan tritmɛnt plan we go mek yu pikin gɛt di sik . Dis min se yu fɔ trit kɔnstipɛshɔn, prɔblɛm wit yu yay, ɛn prɔblɛm dɛn we yu de blo difrɛn wan. Yu pikin in sik kin chenj as tɛm de go, so yu go nid
fɔ go to yu dɔktɔ bɔku tɛm ɛn ajɔst di tritmɛnt we yu de gi . Nɔ wɔri, dis na fɔ gi yu pikin di bɛst layf we pɔsin kin liv.
Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Pitt-Hopkins Syndrome (PTHS)?
Bikɔs dis
na bikɔs ɔf wan jenɛtik mutation , rili natin nɔ de we yu go du fɔ mek dis mutation nɔ apin. Bɔt
if yu, yu patna, ɔ sɔmbɔdi na yu famili gɛt dis jenɛtik sik, ɔ if yu gɛt histri bɔt Pitt-Hopkins syndrome , i rili impɔtant fɔ tɔk to dɔktɔ.
Aw a go no if mi pikin de pan denja fɔ gɛt dis sik?
If yu de op fɔ bɔn pikin, ɛn yu ɔ yu patna gɛt famili histri bɔt di prɔblɛm dɛn we de na yu jɛnɛtiks, tɔk to yu dɔktɔ bɔt aw
fɔ advays yu bifo yu gɛt bɛlɛ . I kin rili ɛp wi. Wan pɔsin we de advays yu bɔt yu jɛnɛtiks kin tɛl yu mɔ bɔt dis.
If mi pikin gɛt Pitt-Hopkins syndrome, wetin a fɔ ɛkspɛkt?
Pikin dɛn we gɛt Pitt-Hopkins syndrome kin nid
spɛshal mɛrɛsin ɛn ɛdyukeshɔn savis . Yu dɔktɔ kin tɛl yu fɔ du tin dɛn lɛk:
- Occupational therapy: I de ɛp fɔ du tin dɛn we pɔsin kin du ɛvride, fɔ ple, ɛn fɔ kia fɔ insɛf. Dɛn pipul ya kin ɛp wit tin dɛn lɛk fɔ it ɛn drɛs.
- Fizik tritmɛnt: I de ɛp fɔ waka, balans, ɛn fɔ gɛt mɔsul trɛnk. Dis impɔtant fɔ mek di pikin gɛt trɛnk na in bɔdi.
- Spich therapy: I de ɛp yu fɔ tɔk, ɔndastand wetin ɔda pipul dɛn de tɔk, ɛn fɔ tɔk to dɛnsɛf. Ilɛksɛf yu nɔ gɛt wɔd dɛn, dɛn kin tich yu fɔ tɔk wetin yu tink bɔt ɔda we dɛn.
Wetin na di layf we dɛn pikin ya kin liv? (Prɔgnosis) .
Di layf we pikin dɛn we gɛt Pitt-Hopkins syndrome kin liv kin difrɛn . Sɔm pikin dɛn
kin liv te dɛn big . I bɛtɛ fɔ aks yu dɔktɔ aw yu go ɛp yu pikin fɔ liv fayn layf. Ɔl pikin difrɛn, so ɔlman in waka difrɛn.
Aw a go kia fɔ mi pikin we gɛt Pitt-Hopkins syndrome?
Tɔk to yu pikin in dɔktɔ bɔt aw dɛn
gɛt wɛlbɔdi ɛn aw dɛn fɔ lan buk . Sɔm tritmɛnt dɛn, ɔ
Augmentative and Alternative Communication (AAC) divays dɛn kin ɛp yu pikin fɔ kɔnɛkt wit ɔda pipul dɛn. Yu dɔktɔ kin tɔk to yu bak bɔt Individualized Education Plans (IEP) ɛn ɔda tin dɛn we go ɛp yu pikin. Spɛshal we dɛn de fɔ tich pikin dɛn we gɛt dis disabiliti, so chɛk dɛn. Ustɛm mi pikin fɔ go to dɔktɔ?
I impɔtant fɔ kɛr yu pikin go to dɔktɔ ɔltɛm ɛn de wach in wɛlbɔdi . Aks yu dɔktɔ aw ɔltɛm i fɔ go to spɛshal dɔktɔ. Dɔn bak, tɛl yu dɔktɔ wantɛm wantɛm if yu pikin gɛt ɛni nyu sayn . I fayn fɔ tɛl yu dɔktɔ if yu pikin gɛt fiva ɔ i de biev difrɛn we pas aw i kin biev. Aw di sik we dɛn kɔl Pitt-Hopkins syndrome kin afɛkt di we aw pikin de biev?
Di bɛst tin na dat bɔku pikin dɛn we gɛt Pitt-Hopkins syndrome kin rili gladi ɛn dɛn kin spɛn tɛm wit dɛn kɔmpin dɛn . Dɛn kin laf bɔku, laf lawd wan, ɛn sɔntɛnde dɛn kin du dat fɔ natin. Yu go si dɛn de flap dɛn an ɛn rɔk bak ɛn biɛn . Dɛn tin ya ɔl na pat pan di sik. Dɛn kin si se dɛn gladi ɛn rilaks. Bɔt sɔm pikin dɛn kin wɔri smɔl ɔ shem bak . If yu gɛt ɛnitin fɔ wɔri bɔt ɛni chenj na yu pikin in bihayvya, tɔk to yu dɔktɔ bɔt am. As nyu mama ɔ papa, yu kin fil bad ɛn shɔk we yu kam fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm we i kam pan in jɛnɛtiks lɛk Pitt-Hopkins syndrome. Dat na rili nɔmal tin. Bɔt, mɛmba se, if yu gɛt ɛkspɛkt mɛrɛsin ɛn tritmɛnt, yu pikin go ebul fɔ liv fayn layf .
Yu dɔktɔ kin sɛn yu bak to pɔsin we de advays yu bɔt yu jɛnɛtiks . Dɛn na masta sabi bukman dɛn we sabi bɔt di jɛnɛtiks. Dɛn kin ɛp yu fɔ fil fayn, ɛp yu fɔ ɔndastand di sik, ɛn gayd yu bɔt wetin yu kin du fɔ ɛp yu pikin fɔ liv fayn layf ɛn gɛt gladi at . Mɛmba se nɔto yu wangren de du dis waka. Di tin dɛn we impɔtant pas ɔl fɔ mek yu mɛmba
Wi op se naw yu dɔn ɔndastand sɔm kayn Pitt-Hopkins Syndrome (PTHS) as wi dɔn tɔk bɔt am. Pan ɔl we dis nɔ kin apin so ɔltɛm, i rili impɔtant fɔ no bɔt am.- PTHS na jεnεtik kכndishכn we de kכz bay wan mכtεshכn na di TCF4 jin. Dis kin afɛkt di divɛlɔpmɛnt na di bren ɛn di nervɔs sistɛm.
- Di sayn dɛn we pɔsin kin gɛt kin difrɛn. Di divɛlɔpmɛnt we kin delay, we i nɔ kin ebul fɔ tɔk, we i kin chenj in fes, we i kin gɛt sik, ɛn we i kin gɛt prɔblɛm wit di we aw i de blo na di men tin dɛn.
- Dis nɔto ɔtizm, bɔt sɔm pan de sayn dɛm kin tan lɛk dis.
- Pan ɔl we dɛn nɔr gɛt kɔmplit mɛrɛsin, dɛn kin trit di sayn dɛm. Difrɛn we dɛn de fɔ mɛn di sik ɛn di ɛp we spɛshal dɔktɔ dɛn kin gi.
- Fɔ no di pikin kwik kwik wan ɛn fɔ mɛn di pikin fayn fayn wan kin ɛp fɔ mek di pikin in layf bɛtɛ.
- Nɔto yu wan de. Dɔktɔ, tritmɛnt pipul, ɛn advaysa dɛn rɛdi fɔ ɛp yu ɛn yu pikin. Nɔ fred fɔ aks fɔ dɛn ɛp.
- Ɛni pikin spɛshal. Pikin dɛn we gɛt PTSD gɛt dɛn yon spɛshal talɛnt ɛn we fɔ gladi. Di tin we impɔtant pas ɔl na fɔ gi dɛn lɔv, kia, ɛn sɔpɔt di rayt we.
Pitt-Hopkins Syndrome, PTHS, jεnεtik sik dεm, TCF4 jin, divεlכpmεnt dεlay, intelεktכl disabiliti, sik, pikin hεlth, jεnεtik kכnsεl
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