Yu pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Phelan-McDermid Syndrome

Yu dɔn ɛva yɛri bɔt Phelan-McDermid Syndrome? Yu go mɔs dɔn yɛri bɔt dis nem, bikɔs na wan sik we nɔ kin apin we pɔsin kin gɛt jɛnɛtiks. Dis kכndyushכn kin mek dεn gεt difrεn hεlth prכblεm dεm, dεn kin delay fכ divεlכp in maynd, εn chenj dεn bihayvya, spεshal wan pan yכŋ pikin dεm. So, tide wi go tok abaut am fo simpul we we yu go andastan. Nɔ wɔri, i rili impɔtant fɔ no dis infɔmeshɔn.

Wetin na di sik we dɛn kɔl Phelan-McDermid Syndrome?

Fɔ tɔk am simpul wan, Phelan-McDermid syndrome na wan jenɛtik disɔda we kin mek di pikin gɛt difrɛn prɔblɛm dɛn na in bɔdi, in sɛns, ɛn in bihayvya. Fɔ ɛgzampul:

• I nɔ izi fɔ it.
• Di mɔsul dɛn we wik.
• Dilɛys pan tɔk ɛn ɔda divɛlɔpmɛnt maylston dɛm.
• Sɔm pikin dɛn kin gɛt tin dɛn lɛk Ɔtizm Spɛktrum Disɔda.
• Sɔntɛnde, tin lɛk ɛpilepshi kin ivin apin.

Wan ɔda nem de fɔ dis, we na ``22q13.3 deletion syndrome.'' Pan ɔl we di nem kin tan lɛk se i kɔmplikt smɔl, lɛ wi tɔk bɔt dat bak.

Aw dis sik nɔ kin apin so ɔltɛm?

Infakt, dis sik we dɛn kɔl Phelan-McDermid syndrome nɔ kin bɔku . Sayɛnsman dɛn se i kin afɛkt bitwin tu to tɛn pikin dɛn pan ɛvri ɔndrɛd tawzin. Bɔt bikɔs i nɔ kin izi fɔ no smɔl, i pɔsibul fɔ mek bɔku pikin dɛn gɛt dis sik pas aw dɛn kin ripɔt. Na bitwin 2200 ɛn 2500 pikin dɛn nɔmɔ dɛn dɔn gɛt dis sik ɔlsay na di wɔl. So yu kin imajin aw dis nɔ kin apin so ɔltɛm.

Wetin na di kɔnekshɔn bitwin Phelan-McDermid syndrome ɛn ɔtizm?

Dis na prɔblɛm we bɔku pipul dɛn gɛt. Dɛn dɔn si se bɔku pikin dɛn we gɛt Phelan-McDermid syndrome gɛt ɔtizm spɛktrum disɔda . Sayɛnsman dɛm se lɛk 1% pan di pikin dɛm wae gɛt ɔtizm kin gɛt Phelan-McDermid syndrome bak. Dis min se kɔnekshɔn de bitwin dɛn tu.

Wetin mek di sik we dɛn kɔl Phelan-McDermid syndrome kin apin?

Okay, naw mek wi si wetin de mek dis bi. Dis kin apin bikɔs di kromozom dɛn chenj . Kromozom na di smɔl tin dɛn we de insay wi sɛl dɛn. Insay dɛn tin ya, na wi jin dɛn de. Jin dɛn tan lɛk wan sɛt ɔf instrɔkshɔn we de sho ɔltin frɔm aw wi bɔdi fɔ wok, to wi ayt, yay kɔlɔ, ɛn us sik wi kin gɛt.

nכmal wan, εvri mכtalman sεl gεt 23 pe kromozom dεm, fכ wan totכl 46 kromozom dεm. Pikin we gɛt Phelan-McDermid syndrome gɛt smɔl pat pan di kromozom 22 we nɔ de, ɔ "dɛn dɔn dilit am." Na dat mek dɛn kin kɔl am bak `22q13.3 dilit sindrom.'

Bɔrku tɛm, dis sik nɔr kin kɔmɔt frɔm mama ɛn papa. dis we di kromozom pat we de lכs de apin randomly, dat na we eg כ sεl sεl de fכm, כ we di εmbrayo de divεlכp. Bɔt sɔm tɛm dɛn we nɔ kin apin so ɔltɛm, i kin gɛt am frɔm mama ɔ papa. If na so i bi, mama ɔ papa we gɛt dis sik gɛt lɛk 50% chans fɔ mek dɛn pikin gɛt di sik.

Wetin na di sayn dɛm fɔ dis sik?

Di sayn dɛm fɔ Phelan-McDermid syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm pipul dɛn nɔ kin gɛt bɛtɛ sayn, sɔm kin gɛt mɔ. Sɔm sayn dɛn kin de we dɛn bɔn am, ɛn ɔda wan dɛn kin apin we dɛn smɔl ɔ we dɛn smɔl. Dɛn sayn ya kin bi pan bɔdi, bihayvya, maynd, ɔr ɔl dɛn tin ya kam togɛda.

Yu pikin kin gɛt sɔm sayn dɛn lɛk dis:

• Divεlכpmεnt dilay : Tin dεm lεk fכ nכ rכl ova, nכ sidon, nכ waka. Tink bɔt am, sɔm pikin dɛn kin bigin fɔ rɔl we dɛn ol 6 mɔnt, sɔm kin sidɔm we dɛn ol 9 mɔnt. Bɔt pikin we gɛt dis sik kin tek smɔl tɛm fɔ du dɛn tin ya.
• Increased pain tolerance : Dis min se yu nɔr de fil pen pas ɔda pipul dɛm.
• di mכsul dεm we de wik (hypotonia) : di bכdi kin fil fכ sכmtεm sכmtεm sכmtεm.
• Prɔblɛm fɔ tɔk : Fɔ delay fɔ tɔk ɔ fɔ nɔ ebul fɔ tɔk.
• Slip disorder : I nɔ kin izi fɔ slip, lɛk fɔ wek ɔltɛm.
• Swet smɔl pas aw i fɔ swet : Dis kin mek di bɔdi wam pasmak ɛn nɔ gɛt wata na di bɔdi.
• I nɔ izi fɔ it ɔ swɛla .
• Prɔblɛm dɛn we de na di dijestiv sistɛm : Nɔs ɔltɛm, vɔmit, ɛn at bɔn (gastroesophageal reflux disease).

Bɔrku pipul dɛm wae gɛt Phelan-McDermid syndrome kin gɛt ɔtizm spɛktrum disɔda bak, so dɛn kin gɛt sɔm kayn bihayvya simptom dɛm bak lɛk:

• Fɔ luk insay di yay na wikɛd tin .
• Fɔ fil se yu de fred ɛn fred we yu de wit ɔda pipul dɛn .
• Intres fɔ chew tin dɛn we nɔto it (e.g. tɔys, klos).
• Hypersensitivity to touch : Fɔ fil se yu nɔr fil fayn we pɔrsin tɔch yu.

Yu kin si sɔm spɛshal tin dɛm bak pan aw pipul dɛm wae gɛt dis sik de luk:

• Ay dɛn we dɔn sink.
• Aylid we de drɔp (ptosis).
• Yes we big ɔ we de kɔmɔt na do fɔ go bifo.
• di sεkכn εn di tכd tכd dεm kin lεk se dεn fכs tכgeda (syndactyly).
• Fɔ gɛt big an ɔ fut we gɛt mɔsul.
• Di ed lɔng ɛn i smɔl.
• Di chin kin tek wan shep we gɛt pɔynt.
• Smɔl ɔ nɔmal nel dɛn na di fut.

Sɔmtɛm dis sik kin kam wit at sik we dɛn bɔn wit ɛn prɔblɛm wit in kidni.Na smɔl tɛm nɔmɔ dɛn pikin ya kin gɛt sak dɛn we ful-ɔp wit wata (arachnoid cysts) na dɛn bren. Dɛn tin ya kin mek di prɛshɔn go ɔp insay di ed, we kin mek i nɔ rɛst, kray, ed kin at, ɛn i kin gɛt ɛpilepshi.

Aw dɛn kin no dis sik?

Bikɔs di sayn dɛm fɔ Phelan-McDermid syndrome nɔr kin no sɔmtɛm, i kin at fɔ no. Yu pikin kin nid fɔ du sɔm tɛst dɛn bifo dɛn gi am kɔrɛkt diagnosis. Di dɔktɔ kin du tin dɛn lɛk:

• Fɔ chɛk di pikin in bɔdi.
• Fɔ aks bɔt di pikin in mɛdikal histri bɔt di sayn dɛm ɛn di delay we i de divɛlɔp.
• Aks bɔt famili mɛdikal histri fɔ si if ɛnibɔdi na di famili dɔn gɛt dis sik.
• Rikwest fɔ tɛst di jɛnɛtiks . Bɔku tɛm, dis kin min fɔ tek smɔl blɔd sɛmpul. dis kin yus fכ si if di kromozom fragmεnt we dεn de kכwεshכn nכ de.

insay sכm kayn we dεm, dis kכndyushכn nכ kin bi fכ wan kromozom we nכ de. bifo dat, i kin bi fכ chenj na wan jin we dεn kכl `SHANK3`. If dɛn nɔ si ɛni kromozom dilit, yu dɔktɔ kin tɛl yu bak fɔ tɛst dis jin.

If di tεst dεm kכnfכm di kכndyushכn `22q13.3 deletion syndrome`, di dכkta kin sכgεst sεvεra כda tεst dεm:

• Jɛnɛtik tɛst fɔ di mama ɛn papa dɛn ɔl tu : Si if dis na sɔntin we pɔsin kin gɛt frɔm dɛn mama ɛn papa ɔ na sɔntin we kin apin wantɛm wantɛm.
• MRI (Magnetic Resonance Imaging) ɔ CT (Computed Tomography) skan fɔ di pikin in bren: Fɔ si if ɛni sayn de fɔ se i gɛt arachnoid sist.
• Kidni ɔltrasɔund : Fɔ chɛk fɔ si if di kidni nɔ fayn.
• Echocardiogram : Fɔ chɛk fɔ si if di at nɔ de wok fayn.
• Test fɔ yɛri.
• Wan ditayla ay ɛgzamin.
• Wan stɔdi bɔt slip.

Yu tink se kɔmplit mɛrɛsin de fɔ dis?

Infakt, naw nɔr gɛt mɛrɛsin fɔ Phelan-McDermid syndrome. Di men gol fɔ tritmɛnt na fɔ kɔntrol di pikin in sik, ɛp am fɔ wok fayn fayn wan, ɛn fɔ mek dɛn nɔ gɛt ɛni prɔblɛm we go kam.

Di tim we de kia fɔ yu pikin kin gɛt difrɛn spɛshal pipul dɛn, lɛk:

• Wan dɔktɔ we de mɛn di at
• Gastroenterɔlɔjis we de mɛn di bɔdi
• Nefrɔlɔjis we de mɛn pipul dɛn
• Nyurolɔjis
• Occupational therapist: Na pɔrsin wae de ɛp pipul dɛm fɔ du ɛvride wok lɛk fɔ it ɛn rayt.
• Ɔtopɛdist (bɔn ɛn jɔyn spɛshal pɔsin) .
• Fizik thɛrapist: Na pɔsin we de ɛp fɔ mek di bɔdi pat dɛn we dɔn afɛkt strɔng.
• Wan dɔktɔ we de mɛn pipul dɛn we de tɔk/langwej
• Ɛndokrinɔlɔjis

Mɛmba se ɔl dɛn spɛshal pipul ya de wok togɛda fɔ kia fɔ yu pikin di bɛst we.

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

Wae dɛn dɔn no se pɔrsin gɛt dis sik, naw nɔr de fɔ fiks di chenj dɛm wae de kam pan pɔrsin in jɛnɛtiks. Bɔt if i nɔ kin apin so ɔltɛm we wan pan di mama ɛn papa dɛnsɛf gɛt dis sik, tɛm kin de we dɛn kin yuz IVF tɛknɔlɔji ɔ tɛst bifo dɛn bɔn fɔ mek i nɔ apin to pikin dɛn we go kam.

If yu ɔ sɔmbɔdi na yu famili gɛt dis sik, i rili impɔtant fɔ tɔk to dɔktɔ ɔ pɔsin we de advays yu bɔt yu jɛnɛtiks . Dɛn kin ɛksplen to yu aw i go bi se yu pikin dɛn go gɛt dis sik.

Aw tumara bambay go tan lɛk if mi pikin gɛt dis sik?

Dis nɔto di sem tin fɔ ɔl pikin. I dipen pan di kayn disabiliti we di pikin gɛt ɛn aw i bad.

Di ifɛkt dɛm wae dis sik kin gɛt nɔr kin pasmak fɔ mek pɔrsin in layf de pan denja. Bɔt bɔrku pipul dɛm wae gɛt dis sik kin nid fɔ gɛt mɛrɛsin fɔ ɔl dɛn layf ɛn sɔpɔt soshal sɔpɔt ɔltɛm. So, di lɔv, ɔndastandin, ɛn sɔpɔt we di famili mɛmba dɛn de gi, rili impɔtant to dɛn pikin ya.

Aw yu kin tek kia ɔf pikin lɛk dis?

I impɔtant fɔ kɛr yu pikin go ɛvri spɛshal apɔntinmɛnt fɔ mek i ebul fɔ du mɔ. Bikɔs yu pikin nɔ go ebul fɔ swet igen, na fɔ no bɔt dɛn tin ya:

• Nɔ mek yu wam pasmak .
• Gi di pikin bɔku wata fɔ drink (kip am fɔ mek i nɔ gɛt wata na in bɔdi).
• Protɛkt frɔm dairekt san layt .

Bikɔs bɔrku pipul dɛm wae gɛt Phelan-McDermid syndrome kin gɛt bɔrku pen tolɛreshɔn ɛn nɔr kin izi fɔ tɔk bɔt dɛn diskɔmfɔt, de wach fɔ sayn dɛm wae de sho se yu pikin de fil pen . If yu notis ɛni wan pan dɛn tin ya, kɔl yu dɔktɔ. Dɛn kin ɛp yu fɔ no if yu pikin gɛt bɛlɛ at ɔ ɔda tin. Sayn dɛm fɔ mek yu fil pen kin bi:

• Fɔ kwayɛt pas aw i kin bi, nɔ fɔ de wit ɔda pipul dɛn.
• Fɔ blo fast pas aw i fɔ blo.
• Kray ɔ nɔr de rɛst pas aw i kin bi.
• Fɔ ol tayt tayt wan pan bed ɔ tin dɛn we de nia yu.
• Fɔ kip di bɔdi, di an, ɛn di leg dɛn stif ɛn nɔ muv.
• di fes we yu de sho se yu de fil pen (e.g., yu de klos yu yay tayt, yu de purs yu lip).
• Fɔ kray ɔ fɔ ala.

Wetin bak yu kin aks di dɔktɔ?

If yu pikin gɛt Phelan-McDermid syndrome, yu kin aks di dɔktɔ dɛn kwɛstyɔn ya:

• Dis kromozom dilit na inhεrit, כ i apin bay chans?
• Mi pikin gɛt prɔblɛm dɛn lɛk at, kidni, ɔ bren sist?
• Aw bɔku mi pikin in intɛlektual disabiliti de afɛkt dɛn?
• Us kayn spɛshal pipul dɛn mi pikin fɔ si? Ɔmɔs tɛm?
• Sɔpɔt grup dɛn de wae kin ɛp wi fɔ liv wit dis sik?
• Yu kin se yu fɔ advays yu bɔt yu jɛnɛtiks?
• Yu tink se di ɔda pipul dɛn na wi famili fɔ tɛst dɛn jɛnɛtiks?

Fɔ dɔn, a fɔ se...

Phelan-McDermid Syndrome na wan kayn jεnεtik kכndyushכn we nכ kin apin. E kin mek yu nɔr de tɔk fayn ɛn de divɛlɔp yu, ɛn i kin mek yu gɛt ɔtizm spɛktrum disɔda. If dɛn dɔn no se sɔmbɔdi na yu famili gɛt dis sik we dɛn kɔl chromosomal deletion syndrome, nɔ panik . Wan tim we gɛt spɛshal pipul dɛn kin ɛp yu ɛn yu pikin. Di men gol dɛm ya na fɔ mek yu pikin wok fayn fayn wan, fɔ mek yu nɔ gɛt prɔblɛm dɛn we kin apin, ɛn fɔ gi yu pikin advays bɔt in jɛnɛtiks if nid de. Nɔto yu wan , ɛn bɔku pipul dɛn de we go ɛp yu pan dis waka.

` Phelan-McDermid Sindrom, Phelan-McDermid Sindrom, Jɛnɛtik Disiz, Kromozom, Ɔtizm, Divɛlɔpmɛnt Dilɛy, SHANK3