Yu pikin gɛt dɛn sik ya? Lɛ wi lan bɔt di sik we dɛn kɔl Smith-Magenis Syndrome!

Sɔntɛnde yu kin gɛt smɔl kwɛstyɔn bɔt aw yu smɔl pikin de gro ɛn aw i de biev? Sɔm tin dɛn de we nɔ kin apin so ɔltɛm, bɔt we impɔtant, we kin afɛkt wi pikin dɛn layf. Tide, wi go tɔk bɔt wan kɔndishɔn we bɔku pipul dɛn nɔ yɛri bɔt, bɔt i rili fayn fɔ no bɔt. Dɛn kɔl dis Smit-Magenis Sindrom.

Wetin rili na di Smit-Magenis Sindrom?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Smith-Maginnis syndrome na di divɛlɔpmɛnt we kin afɛkt difrɛn pat dɛn na di pikin in bɔdi. I kin mɔs mek pɔsin gɛt intɛlektual disabiliti, we na disabiliti fɔ lan. Apat frɔm dat, dɛn pikin ya kin gɛt spɛshal fes, dɛn kin gɛt prɔblɛm wit aw dɛn de biev, ɛn mɔ dɛn kin gɛt prɔblɛm wit dɛn slip.

Imajin, wi bɔdi gɛt smɔl smɔl sɛl dɛn. Dɛn sɛl dɛn ya gɛt sɔntin lɛk instrɔkshɔn buk, we na wi DNA. wi jin dεm de stכr na pat dεm na dis DNA we dεn kכl kromozom. di sεndrכm we dεn kכl Smith-Magnis de apin we dεn dεlit wan rili sכm pat pan wan kromozom we gεt wan imכtant jin frכm di DNA we di pikin bigin fכ bכn. Dis na wetin kin afɛkt difrɛn wok dɛn we di bɔdi de du.

Udat kin gɛt dis sik? Aw i kɔmɔn?

Smith-Magenis Syndrome kin afɛkt ɛnibɔdi. i kin apin we di pikin bכn, we di mama in eg εn di papa in sεl dεm de kam togεda, εn wan jεnεtik chenj (spontan כ "de novo" mכtεshכn) de apin. Dis min se bɔku tɛm, nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo.

Bɔt, na smɔl tɛm nɔmɔ, dat na, na smɔl tɛm nɔmɔ, pikin kin gɛt dis sik frɔm dɛn mama ɛn papa. Aw yu no? Sɔntɛnde, ivin if wan pan di mama ɛn papa nɔ gɛt di sik, na dɛn sɛks sɛl dɛn nɔmɔ (eg ɔ sperm) kin gɛt dis chenj na dɛn jɛnɛtiks. Ɔda bɔdi sɛl dɛn nɔ gɛt dis chenj. Dɛn kɔl dis jemlayn mosaysis. Bɔt dis nɔ kin apin so ɔltɛm.

We wi tink bɔt aw dis sik kin bɔku, di sik we dɛn kɔl Smith-Maginnis syndrome kin afɛkt lɛk wan pan ɛvri 15,000 to 25,000 pipul dɛn ɔlsay na di wɔl. Dis min se na wan sik we nɔ kin apin so ɔltɛm.

Wetin na di sayn dɛm fɔ dis? Yu kin ɛksplen smɔl?

De sayn dɛm fɔ Smith-Magenis Syndrome kin difrɛn frɔm wan pikin to ɔda pikin, ɛn aw dɛn kin tranga kin difrɛn frɔm smɔl to siriɔs. dis simptom dεm de afekt difrεn sistεm dεm na di pikin in bכdi.

Di kwaliti dɛn we pɔsin kin gɛt wit in maynd ɛn in bɔdi

• Intɛlektual disabiliti: Dis na wan men tin we de apin. Sɔm delay ɔr prɔblɛm kin de pan tin dɛm lɛk fɔ lan ɛn fɔ ɔndastand.
• Short stature: I kin shɔt pas ɔda pikin dɛn we gɛt di sem ej.
• Skoliosis: Yu kin si wan sayd we di spayna kɔba.
• I nɔ kin izi fɔ fil pen ɔ di tɛmpracha: Sɔm pikin dɛn nɔ kin fil pen ɔ fil wam ɔ kol bad bad wan lɛk ɔda wan dɛn.
• Raspy ɔ hoarse vɔys: Sɔntɛm chenj de na di vɔys.
• Prɔblɛm fɔ yɛri ɛn/ɔ fɔ si: Nɔ de yɛri fayn, nɔ de si fayn (e.g., nid fɔ wɛr glas) kin apin.
• We yu gɛt bɔku bɔku wet: Di bɔdi wet kin bɔku we yu nɔ nid, mɔ we yu yɔŋ.

Simptom dεm wae yu kin si wae yu bεlε

Sɔm sayn dɛn kin apin ivin we yu smɔl:

• wik mכsul tכn / `hypotonia`: di pikin in bכdi kin fil sכmtεm sכmtεm.
• Divεlכpmεnt delay: di tin dεm we fit fכ di ej lεk fכ ol di ed כp, rכl oba, εn sidon op kin delay.
• Pɔr rifleks: Sɔm ɔtomɛtik rispɔns kin pwɛl.
• Di prɔblɛm dɛn we i kin gɛt we i de gi pikin tin fɔ it: I nɔ kin izi fɔ di pikin fɔ sok ɔ swɛla.
• Kray bɔku tɛm: I kin kray bɔku tɛm pas ɔda pikin dɛn.
• Lɔng slip ɛn slip na de.

Speshal tin dɛn we pɔsin kin si na in fes

Pikin dɛn we gɛt di sik we dɛn kɔl Smith-Maginnis syndrome gɛt sɔm difrɛn tin dɛn na dɛn fes . Dɛn tin ya kin apin we di pikin dɔn big smɔl, we i de na di midul pikin.

• Wan fes we shep lɛk skwea
• Ful chɛk dɛn
• Ay dɛn we dɔn sink
• Mɔt we de slan dɔŋ / frown
• Wan flat brij we de na di nos
• we di jaw we de dכn, dat na di chin, de kכmכt sכmtεm.

Bikɔs ɔf dis shep na dɛn fes, sɔm pikin dɛn kin gɛt prɔblɛm wit dɛn tit bak.

Prɔblɛm dɛn we pɔsin kin gɛt we i de slip

Dis na prɔblɛm fɔ bɔku mama ɛn papa dɛn. Bebi dɛn, yɔŋ pikin dɛn, ɛn big pipul dɛn we gɛt di sik we dɛn kɔl Smith-Maginnis syndrome kin gɛt difrɛn prɔblɛm dɛn we kin apin to dɛn we dɛn de slip .

• I nɔ kin izi fɔ slip ɛn fɔ de slip.
• Fɔ fil se yu de slip pasmak insay di de.
• Fɔ wek bɔku tɛm na nɛt.

Dɛn dɔn si se dɛn chenj ya we de apin na di we aw wi de slip gɛt fɔ du wit di chenj dɛn we de apin na di we aw di ɔmon we dɛn kɔl mɛlatonin we de mek wi slip fayn, de kɔmɔt na wi bɔdi.

Karakta dɛm wae gɛt fɔ du wit aw pɔrsin de fil ɛn aw pɔrsin de biev

Wi kin si sɔm patikyula tin dɛn bak pan di filin ɛn di we aw dɛn pikin ya de biev:

• Pɔsin we rili lɛk pɔsin: I kin biev di kayn we we i rili lɛk am.
• Fɔ ɔg yusɛf: Bɔku tɛm dɛn kin si yu de ɔg yusɛf.
• Fɔ vɛks ɔ fɔ vɛks ɔltɛm.
• Agresiv bihayvya: Tin dɛm lɛk fɔ du bad to yusɛf (e.g., fɔ bit yu an/an, fɔ bang yu ed) ɔr fɔ bit ɔda pipul dɛm.

Sɔntɛnde, dɛn pikin ya kin gɛt ɔda kayn we aw dɛn de biev, lɛk ADHD (Attention-Deficit/Hyperactivity Disorder) ɔ Autism Spectrum Disorder .

Dɛn nɔ kin si siriɔs sik dɛn

Insay di kayn tin dɛn we nɔ kin apin so ɔltɛm, we kin rili bad, di pikin in at ɛn in kidni wok kin afɛkt bak. Di sik kin apin bak.

Wetin mek di sik we dɛn kɔl Smith-Magenis Syndrome kin apin? Wetin na di kɔz?

Di men tin we kin mek wi gɛt dis sik na we wi de chenj wi jɛnɛtik sistɛm. fכ bi prεsis, wan jin de we dεn kכl `RAI1` (`retinoic acid-induced 1 gene`) , εn di chenj dεm na da jin de na di kכz fכ dis. dis `RAI1` jin de rispansabl fכ prodyuz protin dεm we de instrכkt di sεl dεm na wi bכdi fכ du difrεn wok dεm. pan ɔl we dɛn nɔ ɔndastand dis jin gud gud wan yet, stɔdi dɛn dɔn sho se dis jin impɔtant fɔ mek difrɛn pat dɛn na di pikin in bɔdi gro ɛn wok. Na dat mek di sayn dɛm fɔ dis sik kin bɔku.

in mכst kes dεm, dat na , insay lεk 90% pan di pikin dεm we gεt Smith-Maginnis sεndrכm, wan pat pan di sכt an (p) fכ di kromozom 17 (kromozom 17) we gεt di RAI1 jin de mis (dilit) (na di lכkεshכn 17p11.2). dis dilit de apin insεf כ de novo, dat na we di mama in eg εn di papa in sεl de kam togεda di tεm we di pikin de bכn.

rεli rεli, di kromozom sεgmεnt dεm kin brok כf εn muv arawnd (translokeshכn) di tεm we di εmbrayo de divεlכp di εli. insay di rεst 10% pan di pikin dεm, insted fכ di RAI1 jin we nכ de, wan mכtεshכn de apin insay di jin insεf . dis kin mek di pikin in DNA strכkchכ chenj na da spεsifi k jεnεtik lכkεshכn de.

Aw dɛn kin no dis sik? (Diagnosis) .

Dɛn kin no bɔt Smith-Magenis Syndrome we dɛn smɔl, we di sayn dɛm kin sho mɔr. Yu pikin in dɔktɔ go aks yu bɔt yu pikin in sik, tek in kɔmplit mɛdikal istri, ɛn chɛk yu pikin.

I impɔtant fɔ mek dɛn du jenɛtik blɔd tɛst fɔ no if pɔsin gɛt dis sik ɛn fɔ mek dɛn nɔ gɛt ɔda sik dɛn we gɛt di sem kayn sik.

Wetin na di tritmɛnt fɔ di sik we dɛn kɔl Smith-Magenis Syndrome?

Di tritmɛnt fɔ dis sik kin pe atɛnshɔn fɔ pul di pikin in sik ɛn ɛp am fɔ liv fayn fayn wan. Di we aw dɛn kin trit am kin difrɛn frɔm wan pikin to ɔda pikin.

Na sɔm tritmɛnt dɛn we dɛn kin yuz:

• Fɔ rifer di pikin to ali intavɛnshɔn program bifo i ol 3 ia ɛn to ɛdyukeshɔn program afta i ol 3. Dɛn tin ya kin ɛp di pikin fɔ win di divɛlɔpmɛnt ɛn ɛdyukeshɔn maylston dɛm.
• Ɛnkɔrej di pikin fɔ tek pat tranga wan na os ɛn na di sosayti.
• Fɔ gɛt ɔtpeshɛnt tritmɛnt dɛn . Fɔ ɛgzampul:
• Tɛrapi fɔ tɔk ɛn langwej
• Bihayvya tɛrapi
• Fizik tɛrapi
• Ɔkupeshɔn tɛrapi
• Fɔ gi mɛrɛsin fɔ di sayn dɛm fɔ ɔda sik dɛm wae de kam togɛda, lɛk ADHD ɔr prɔblɛm wit slip.
• We yu de wɛr glas fɔ gɛt prɔblɛm wit yu yay.
• Ɔspitul plesmɛnt fɔ di ia tyub fɔ mek yu nɔ gɛt infɛkshɔn na di yes ɛn fɔ wach aw yu de yɛri.
• Mek yu it fayn ɛn balans ɛn ɛksesaiz ɔltɛm fɔ kɔntrol yu wet.

Yu pikin in dɔktɔ go mek wan tritmɛnt plan fɔ ɛnibɔdi we dɛn mek fɔ yu pikin in nid.

Grup we dɛn de trit

Bikɔs dɛn pikin ya gɛt sɔm sayn dɛn we kin afɛkt difrɛn pat dɛn na dɛn bɔdi, di tritmɛnt kin nid fɔ gɛt wan tim we gɛt difrɛn dɔktɔ dɛn ɛn pipul dɛn we sabi bɔt wɛlbɔdi biznɛs . Dis tim kin gɛt:

• Pikin dɛn ɛn ɔda pipul dɛn we sabi bɔt pikin dɛn
• Ɔspitul dɔktɔ (if nid de) .
• Wan dɔktɔ we de mɛn pipul dɛn we gɛt yay
• Wan dɔktɔ we de stɔdi bɔt aw fɔ yɛri
• Sayɛnsman we de stɔdi bɔt pɔsin in maynd
• Wan pɔsin we sabi bɔt it
• Pɔsin we de stɔdi bɔt aw pɔsin kin tɔk
• Ɔkupeshɔn tɛrapist ɛn fizik tɛrapist

Melatonin kin ɛp fɔ gɛt prɔblɛm wit slip?

Melatonin na wan ɔmon we wi bɔdi de mek we de ɛp wi fɔ slip. Melatonin supliment kin ɛp yu pikin fɔ slip ɛn rigul in slip-wek saykl. If yu pikin gɛt prɔblɛm fɔ slip bikɔs ɔf di Smith-Magnis syndrome, tɔk to yu dɔktɔ bɔt fɔ gi am melatonin supliment bifo i go slip fɔ ɛp am fɔ slip fayn. Bɔt nɔ bigin ɛnitin we yu nɔ aks yu dɔktɔ fɔs, okay?

Yu tink se dɛn go ebul fɔ mek dis tin nɔ apin?

Bɔt i sɔri fɔ no se dɛn nɔ kin ebul fɔ avɔyd di sik we dɛn kɔl Smith-Magenis Syndrome.Bikɔs dis na jɛnɛtik kɔndishɔn, chenj dɛn na pikin in DNA kin apin randomly ɛn we i nɔ kin no. Bɔt bɔku tin dɛn de we dɛn kin du fɔ mɛn pikin, in bɔdi, ɛn aw i kin biev we kin ɛp pikin fɔ kɔntrol di sik dɛn we i gɛt ɛn liv ful layf.

Wetin a go ɛkspɛkt if mi pikin gɛt dis sik? (Prɔgnosis) .

If pikin gɛt di sik we dɛn kɔl Smith-Maginnis syndrome, di prɔgnosis de dipen pan aw di sik dɛn kin tranga. Sɔm pipul dɛm wae gɛt dis sik kin liv sɔm kayn wae fɔ dɛnsɛf wit smɔl sɔpɔt frɔm dɛn fambul, padi dɛm, ɛn pipul dɛm wae de kia fɔ dɛn. Dɛn kin liv nɔmal layf bak.

Bɔt sɔm pikin dɛn kin nid mɔ sɔpɔt ɔlsay na dɛn layf. Dɛn kin bɛtɛ fɔ de na grup ɔr kɔmyuniti wae de kia fɔ dɛn. Dɛn go nid fɔ mɛn di sik dɛn we dɛn gɛt fɔ dɛn layf ɔl ɛn fɔ kia fɔ di pikin fɔ mek dɛn nɔ gɛt di sik fɔ ɛp di pikin fɔ liv in layf we gɛt wɛlbɔdi ɛn we go mek i fil fayn.

Yu tink se dɛn kin mɛn di sik we dɛn kɔl Smith-Magenis Syndrome kpatakpata?

Nɔ, dɛn nɔ kin ebul fɔ mɛn di Smit-Magenis Sindrom ɔltogɛda bikɔs i kin apin bikɔs ɔf di chenj dɛn we kin apin na di pikin in DNA. Bɔt, yu pikin in mɛdikal tim go gi yu pikin tritmɛnt opshɔn dɛm fɔ ɛnibɔdi fɔ ɛp fɔ kɔntrol di sayn dɛm ɔlsay na in layf.

Us tɛm yu nid fɔ go to dɔktɔ?

If yu pikin sho ɛni wan pan dɛn sik ya, go to dɔktɔ wantɛm wantɛm:

• If di pikin de du bad to insɛf ɔ i de fɛt pasmak.
• If dɛn mis di divɛlɔpmɛnt maylston dɛn we fit di ej.
• If yu de sho se yu de sɔfa pasmak ɔ yu de fil bad na os ɛn/ɔ skul.
• If yu nɔ ebul fɔ slip na nɛt ɔ yu gɛt prɔblɛm fɔ wek na de.

Ustɛm yu nid fɔ go na di Imejɛnsi Tritmɛnt Yunit (ETU) ?

Go na di imejensi rum wantɛm wantɛm we dis kayn tin apin:

• If di pikin gɛt sik we de mek i sik.
• If di at bit nɔ de bit ɔltɛm.
• If di pikin nɔ de it ɔ i tan lɛk se i nɔ gɛt wata na in bɔdi.

Wetin na di impɔtant kwɛstyɔn dɛn we wi fɔ aks di dɔktɔ?

We yu go to dɔktɔ, yu kin aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Aw a fɔ sɔpɔt mi pikin?
• Wetin a fɔ du if mi pikin mis di divɛlɔpmɛnt maylston dɛn?
• Us sayn dɛn a fɔ no mɔ bɔt?
• Aw a go protɛkt mi pikin we i vɛks?
• Ɛni bad tin de we kin apin to di tritmɛnt dɛn we dɛn kin gi?

Fɔ dɔn, wan Mɛsej we dɛn kin kɛr go na os

Fɔ no se yu pikin gɛt dis divɛlɔpmɛnt sik kin tranga. I rili nɔmal. Nɔto yu wan de. We yu jɔyn sɔpɔt grup usay mama ɛn papa ɛn di wan dɛn we de kia fɔ pikin dɛn we gɛt dis sik kin kam togɛda, dat kin gi yu bɔku trɛnk, infɔmeshɔn, ɛn sheb ɛkspiriɛns.

Pan ɔl we no mɛrɛsin nɔ de fɔ di Smit-Magenis Sindrom, sɔpɔt de fɔ ɔl in layf fɔ ɛp yu pikin fɔ du ɔl wetin i ebul fɔ du ɛn fɔ kɔntrol in sik dɛn. Yu pikin in mɛdikal tim go gayd yu fɔ du dis. Nɔ giv ɔp!

` Smith-Magenis Syndrome, Smith-Magenis Syndrome, jεnεtik sik, divεlכpmεnt delay, bihayvya prכblεm, slip prכblεm, RAI1 jin