Yu pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Fragile X Syndrome (FXS) .

Yu go dɔn notis se yu smɔl pikin de gɛt prɔblɛm wit in divɛlɔpmɛnt ɔ sɔm pan di we aw dɛn de biev kin strenj smɔl. Sɔntɛm dɛn kin let fɔ tɔk, ɔ dɛn nɔ want fɔ de wit ɔda pikin dɛn. Sɔmtɛm, biɛn dɛn tin ya, wan sik kin de we dɛn kɔl Fragile X Syndrome (FXS). Nɔ fred we yu yɛri dis nem. Mek wi tok abaut am likl mo ditel tide, fo rili simpul we, okay?

Wetin na Fragile X Syndrome?

Fɔ tɔk am simpul wan, Fragile X Syndrome na wan sik we de kɔmɔt frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn . I kin mek pikin gɛt sɔm chenj dɛn na in bɔdi, i kin gɛt prɔblɛm wit in bihayvya, ɛn difrɛn ɔda prɔblɛm dɛn wit in wɛlbɔdi. Fɔ ɛgzampul:

• divεlכpmεnt delay na di pikin.
• Disabiliti dɛn we gɛt fɔ du wit intɛlektual.
• Disabiliti fɔ lan.
• Fɔ wɔri ɔltɛm.
• Difεlεns fכ pe atεnshכn εn hyperactivity, wan kכndyushכn we dεn kכl Atεnshכn-dεfisit/hyperactivity disorder (ADHD).
• I kin ivin sho sayn dɛm fɔ ɔtizm spɛktrum disɔda.

dεn kכl am "Fragile X" biכs we dεn si di X kromozom כnda maykroskכp, wan pat pan am de sho se i "brכk" כ "fragile." Wan ɔda nem fɔ am na Martin-Bell syndrome. Dis na wan pan di kɔmɔn inhɛrit intɛlektual ɛn divɛlɔpmɛnt disɔda (IDD).

Aw dis sik kin kɔmɔn?

Risach pipul dɛm nɔr shɔ ɔmɔs pipul dɛm na di wɔl gɛt Fragile X Syndrome, bɔt dɛn tɔk se lɛk wan pan ɛvri 11,000 gyal pikin dɛm ɛn wan pan ɛvri 7,000 bɔy pikin dɛm kin gɛt dis sik.

Wetin na di sayn dɛm fɔ Fragile X Syndrome?

Fragile X Syndrome kin afɛkt yu pikin in sɛns, in maynd, in bɔdi, ɛn in bihayvya. Lɛ wi tek wan luk pan wetin na di kɔmɔn sayn dɛm na ɛni eria.

Prɔblɛm dɛn we gɛt fɔ du wit sɛns

• Disabiliti fɔ lan: I kin tranga fɔ lan ɛn mɛmba nyu tin dɛn.
• IQ we de go dɔŋ: As pipul dɛn de ol, dɛn IQ kin go dɔŋ smɔl.
• Di maylston dɛm we kin delay fɔ divɛlɔp we dɛn smɔl: Fɔ ɛgzampul, dɛn kin leta pas ɔda pikin dɛm fɔ bigin waka, tɔk, ɛn it fɔ dɛnsɛf.
• Nɔn-wɔd kɔmyunikeshɔn prɔblɛm: Dis min se i kin at fɔ sho aw yu de tink bay we yu de mek yu an, aw yu de sho yu fes, ɛn ɔda tin dɛn we yu nɔ de tɔk.
• Prɔblɛm dɛn fɔ ɔndastand ɛn tɔk langwej:Arawnd we yu ol tu ia, yu go notis se yu pikin de gɛt sɔm prɔblɛm dɛn we i de tɔk ɛn ɔndastand wɔd dɛn.
• I nɔ izi fɔ sɔlv prɔblɛm dɛn we gɛt fɔ du wit matematiks.

Mek shɔ se yu chɛk yu pikin in divɛlɔpmɛnt fɔ ɛni wan pan dɛn tin ya we de mek i delay. I impɔtant fɔ tɔk to yu dɔktɔ bɔt us divɛlɔpmɛnt maylston dɛn we fit fɔ ɛni ej ɛn aw fɔ asɛs dɛn fayn fayn wan.

Prɔblɛm dɛn we gɛt fɔ du wit wɛlbɔdi biznɛs

• Fɔ wɔri ɔltɛm .
• Kɔndishɔn dɛn lɛk pwɛl hat .
• Strɔng nid fɔ ripit ɔ tink bɔt sɔm tin dɛn (Obsessive-compulsive behaviors).

Di kwaliti dɛn we pɔsin gɛt na in bɔdi

Dɛn sayn ya nɔr kin apin to ɔlman di sem we, bɔt sɔm pan de sik wae kin kam pan pɔrsin na:

• Wan fes we lɔng ɛn we smɔl.
• Wan big fɔrɛst.
• Na big big tin.
• Big big yes dɛn.
• Krɔs yay (strabismus).
• di finga dεm we de fleksibul pasmak, כ "dכbl-jכyn".
• Flat fut dɛn.
• di tεstikul dεm fכ bכy pikin dεm kin big afta dεn dכn bכn.
• Palata we gɛt ay arch.
• di mכsul dεm we nכ gεt trεnk (hypotonia), we min se di bכdi kin fil sכmtεm sכmtεm.

Wetin na di prɔblɛm dɛn we kin apin we pɔsin de biev?

Fragile X Syndrome kin mek pikin gɛt difrɛn kayn prɔblɛm wit in bihayvya. Fɔ ɛgzampul:

• Difεlεns fכ pe atεnshכn εn hyperactivity (ADHD).
• Sɔshial wɔri ɛn shem. Imajin se we yu go pati na yu fambul in os, yu de fa frɔm ɔda pipul dɛn ɛn luk dɔŋ we pɔsin de tɔk.
• Ripit bihayvya lɛk fɔ klap an ɔ fɔ bit yu an.
• Nɔ want fɔ mek yu kɔntakt yu yay.
• Sensory disorders - Dis min se yu kin gɛt hypersensitive to tin dɛm lɛk ples wae krawd, pɔrsin wae de tɔch yu bɔdi, nɔys, sɔm it dɛm, ɛn fabrik. Sɔntɛnde, yu kin sɔprayz we yu ivin yɛri smɔl sawnd, ɔ yu kin se yu nɔ go ebul fɔ it sɔm it dɛn.
• I nɔ kin izi fɔ ɔndastand ɔda pipul dɛn aw dɛn de fil ɛn aw dɛn kin tɔk bɔt ɔda pipul dɛn.

Wetin kin mek yu gɛt Fragile X Syndrome?

dis na bikoz f כ wan jεnεtik mכtεshכn na di jin `FMR1` we de na wi X kromozom. dis `FMR1` jin de instrכkt wi bכdi fכ mek wan protin we dεn kכl `FMRP`. dis `FMRP` protin rili imכtant fכ divεlכpmεnt fכ kכnεkshכn `(synapses)` bitwin nεv sεl dεm. na tru dεn `synapses` dεm ya we di nεv impuls dεm `(nεv impuls dεm)` de travul.

biכs fכ wan mכtεshכn na di FMR1 jin, wan sεkshכn pan DNA we dεn kכl CGG triplet rεpεt de bi bכku lכng pas nכmal. Nɔmal wan, dis pat kin ripit lɛk 5 to 40 tɛm, bɔt pan pipul dɛn we gɛt Fragile X Syndrome, i kin ripit pas 200 tɛm .dis de mek di `FMR1` jin "silens", we min se i nכ kin mek di `FMRP` protin fayn fayn wan. Dis kin afɛkt di pikin in nervɔs sistɛm ɛn mek i gɛt di sayn dɛm fɔ Fragile X Syndrome.

Aw dis kin pas frɔm jɛnɛreshɔn to jɛnɛreshɔn? (Patn fɔ Inhɛritɛshɔn) .

Fragile X Syndrome de inhεrit in wan X-linked dominant patεn. dis min se di mutated jin we de mek i de na di X kromozom. i "dominant" biכs ivin fכ gεt wan kכpi fכ di mutated jin na inf fכ mek di sik.

Fragile X Syndrome kin kכmכn pan bכy pikin dεm εn i kin gεt mכr siriכs simptom dεm biכs dεn nכ gεt wan X kromozom. Girl pikin dɛn gɛt tu X kromozom dɛn. fכ dat, ivin if wan X kromozom gεt mכtεshכn, di כda hεlty X kromozom kin nכ sho di simptom dεm εn i kin כnli bi kכriכ. Bɔt, bɔy pikin dɛn we gɛt Fragile X kin gɛt sɔm sayn dɛn ɔltɛm.

Ɔda wɛlbɔdi prɔblɛm dɛn de fɔ di wan dɛn we gɛt Fragile X?

Yɛs, i rili impɔtant. If yu pikin gɛt Fragile X Syndrome, yu fɔ tɛl yu dɔktɔ bɔt am. Bikɔs yu kin bi pɔsin we gɛt di sik, yu kin gɛt mɔ prɔblɛm dɛn wit yu wɛlbɔdi, lɛk:

• Menopause kin apin bifo i ol 40 ia.
• Sik dɛm wae gɛt fɔ du wit mɛmori lɛk dis maynia sik.
• Di ay blɔd prɛshɔn.
• Pwɛl at.
• Wɔri.
• Maygren we kin kam.
• di tayroyd gland de dכn dכn (Hypothyroidism).
• Pen we nɔ de dɔn.
• Slip apnɛa fɔ slip.

Wetin na di prɔblɛm dɛn we kin kam wit Fragile X Syndrome?

Sɔmtɛm pipul dɛm wae gɛt Fragile X Syndrome kin gɛt ɔda wɛl bɔdi prɔblɛm. Insay wan stɔdi, mama ɛn papa dɛn bin tɔk se dɛn pikin dɛn bak gɛt:

• Di sik dɛn we kin mek pɔsin sik.
• Prɔblɛm dɛn we pɔsin kin gɛt we i de slip. Wan ɔda stɔdi sho se 4 pan 10 pikin dɛm we gɛt ɔl tu Fragile X ɛn autism spectrum disorder bin gɛt prɔblɛm wit slip, we yu kɔmpia am wit 3 pan 10 pikin dɛm we gɛt Fragile X nɔmɔ.
• Agression ɔ iritabiliti. Pikin dɛm we gɛt Fragile X, mɔ di wan dɛm we gɛt ɔtizm spɛktrum disɔda, kin gɛt mɔ agresiv.
• Di we aw pɔsin de biev we i de du bad to insɛf.
• Fat.

Aw dɛn kin no bɔt Fragile X Syndrome?

Fɔ no if yu gɛt Fragile X Syndrome, dɛn kin tek DNA sɛmpul frɔm yu pikin in blɔd ɔ ɔda tisu.Di dɔktɔ go tek di sampul ɛn sɛn am na lab. na de, dεn go chεk fכ si if di pikin gεt di mכtεshכn we wi bin dכn mεnshכn fכs insay di `FMR1` jin.

If yu gɛt bɛlɛ ɛn yu tink se yu pikin kin gɛt Fragile X Syndrome, yu kin mit wit pɔsin we de advays yu bɔt yu jɛnɛtiks ɛn du tɛst bifo yu bɔn lɛk :

• Amniocentesis: dis involv fכ tek sεmpl fכ di amniotic fluid we de na di uterus εn tεst am.
• di chorionic villus sampling: dis involv fכ tek sεmpl fכ sεl dεm frכm di plasεnta εn tεst dεm.

Na us ej dɛn kin no bɔt dis sik?

Bɔku bɔy pikin dɛn kin no se dɛn gɛt di sik arawnd 35-37 mɔnt . Dɛn kin no se gyal pikin dɛn gɛt dis sik smɔl leta, we dɛn ol lɛk 42 mɔnt so . Bɔt yu kin notis sɔm sayn dɛn as ali as 12 mɔnt.

Us kwɛstyɔn dɛn di dɔktɔ kin aks fɔ ɛp fɔ no di sik?

Bifo yu pikin in dɔktɔ ɔ di pɔsin we de advays yu bɔt di jenɛtiks ɔda fɔ mek dɛn du Fragile X Syndrome tɛst, dɛn kin aks yu kwɛstyɔn dɛn lɛk dɛn wan ya:

• Us sayn dɛn yu dɔn notis pan yu pikin?
• Aw yu pikin kin lan nyu tin dɛn?
• Yu pikin de shem?
• Yu pikin gɛt prɔblɛm wit slip?
• Yu pikin kin wɔri ɔltɛm?
• Yu pikin de avɔyd fɔ luk am na in yay?
• Yu pikin gɛt ɛnitin we nɔ kɔmɔn na in bɔdi?
• Aw yu pikin ebul fɔ tɔk?

Yu kin no se yu gɛt Fragile X Syndrome we yu dɔn big?

Pan ɔl we dɛn kin no bɔt Fragile X Syndrome we dɛn smɔl, tu ɔda sik dɛn de na di Fragile X famili we kin afɛkt big pipul dɛn. Dɛn na:

• Fragile X-associated tremor/ataxia syndrome (FXTAS): Di sayn dɛm na wae yu gɛt prɔblɛm wit balans, shek yu an, yu nɔr de fil fayn, yu nɔr de mɛmba fayn, yu nɔr de tink fayn, ɛn yu an ɛn yu bɔdi nɔr de fil fayn.
• Fragile X-associated primary ovarian insufficiency (FXPOI): di sayn dεm na di fεtiliti dεm we de dכn, i at fכ bεlε, di mεnstrual pεriכd we nכ de rεgul כ we i nכ de, εn di mεnopos bifo tεm.

If yu gɛt sayn dɛn lɛk dis, i go fayn fɔ mek yu tɔk to dɔktɔ.

Aw dɛn kin trit Fragile X Syndrome?

Nɔr patikyula mɛrɛsin nɔr de fɔ Fragile X Syndrome.Bɔt dɛn kin trit di sayn dɛm fɔ dis sik. Yu pikin in dɔktɔ kin gi yu difrɛn mɛrɛsin dɛn. Na sɔm ɛgzampul dɛn, we dɛn kin sheb bay di sayn dɛm:

• Epilepsy ɔ we yu nɔ de fil fayn:
• Litiɔm kabɔnɛt
• Gabapentin (Nyurɔntin®) .
• Fɔ ADHD:
• Methylphenidate (Ritalin®, Concerta®) ɛn dɛkstroampɛtamin (Adderall®, Dɛksɛdrin®) .
• Venlafaksin (Effexor®) ɛn nɛfazodɔn (Serzone®) .
• Fɔ di sik we dɛn kɔl obsessive-compulsive disorder (OCD):
• Fluoksɛtin (Prozac®) we dɛn kɔl .
• Sɛtralin (Zoloft®) ɛn sitalopram (Celexa®) .
• Fɔ prɔblɛm dɛn we gɛt fɔ du wit slip:
• Trazodone (Desyrel®) we dɛn kɔl di .
• Melatonin we dɛn kɔl

Dis na jɔs smɔl list fɔ di mɛrɛsin dɛn we yu dɔktɔ go gi yu. Mek shɔ se yu tɔk to yu dɔktɔ bɔt di sayd ɛfɛkt ɛn prɔblɛm dɛn we ɛni mɛrɛsin kin gɛt.

Apat frɔm di mɛrɛsin, bɔku tɛm di dɔktɔ kin tɛl am fɔ tek saykotɛrapi , we na wan tritmɛnt we de ɛp di pikin fɔ liv wit di sik ɛn kɔntrol aw i de biev.

Wetin na di fiuja fɔ pipul dɛm wae gɛt Fragile X Syndrome?

Sɔm pipul dɛm wae gɛt Fragile X Syndrome kin liv fɔ dɛnsɛf. Stɔdi dɔn sho se lɛk 4 pan ɛvri 10 gyal pikin dɛn ɛn 1 pan ɛvri 10 bɔy pikin dɛn we gɛt Fragile X kin gro ɔp fɔ bi rili indipɛndɛnt. Gɛl pikin dɛn kin du mɔ pas bɔy pikin dɛn:

• Rid buk dɛn wit nyu aidia ɛn nyu wɔd dɛn.
• Fɔ tɔk kɔmpleks sɛntɛns dɛn.
• Fɔ tɔk di kayn we we nɔmal.

Fragile X syndrome kin bi mɔr pan bɔy pikin dɛm. Na lɛk 8 pan ɛvri 20 gyal pikin dɛm wae gɛt Fragile X nɔr nid ɛp fɔ du ɛvride wok. Bɔt na 1 pan ɛvri 20 bɔy pikin dɛn nɔmɔ kin du dat. Pan ɔl we bɔku gyal pikin dɛn kin gradyuet frɔm sɛkɔndari skul, bɔku pan di bɔy pikin dɛn nɔ kin gradyuet. Na lɛk af pan di uman dɛn we gɛt Fragile X de wok ful-taym, bɔt na 2 pan ɛvri 10 bɔy pikin dɛn nɔmɔ de wok.

mi pikin kin go na daycare/skul?

Yɛs, bɔt yu pikin kin nid spɛshal ples fɔ slip na daycare ɔ skul. Sɔm pat dɛn na di skul de ɛn di klasrum kin nid fɔ ajɔst fɔ fit wetin dɛn nid. Yu pikin in ticha go ebul fɔ mek sɔm ajɔstmɛnt dɛn to di say we dɛn de ɛn di kɔrikulu.

Chenj dɛn we gɛt fɔ du wit di envayrɔmɛnt:

• Kip di nɔys pɔyushɔn na lɔw lɛvɛl.
• Fɔ kip di natura layt we de de.
• Fɔ avɔyd ples dɛn we pipul dɛn kin bɔku.

Chenj dɛn we gɛt fɔ du wit di silabas:

• Yuz tin dɛn we pɔsin kin si lɛk dayagram, pej dɛn fɔ kɔlɔ, ɛn pikchɔ dɛn.
• Fɔ ɛp pikin dɛn fɔ lan bay we dɛn de yuz tin dɛn we dɛn kin si se rili intrestin .
• Fɔ dayrɛkt di pikin fɔ wok na smɔl grup dɛn .

Mek shɔ se yu mek di skul no se yu pikin gɛt Fragile X Syndrome. Tɔk to di ticha bɔt dɛn spɛshal nid dɛn. Yu kin want fɔ go bak to skul sayɛnsman ɛn/ɔ advaysa. Dɛn kin wok wit pikin dɛn we dɔn pas 3. Ɔda spɛshal pipul dɛn we yu go want fɔ kɔntakt na:

• Ɔkupeshɔn tɛrapist dɛn
• Di wan dɛn we de mɛn pipul dɛn fɔ biev
• Di wan dɛn we de stɔdi bɔt aw pɔsin kin tɔk ɛn langwej
• Soshal woka dɛn

Aks yu lokal skul ɛn di wan dɛn we de kia fɔ wɛlbɔdi biznɛs fɔ no mɔ bɔt dis.

Aw lɔŋ Fragile X Syndrome kin las? Wetin na di layf we pɔsin kin liv?

Fragile X Syndrome na wan sik wae de kam wae yu de liv yu layf. No patikyula mɛrɛsin nɔ de fɔ am.

Bɔt nɔr pan di sayn dɛm wae de sho se yu gɛt Fragile X Syndrome wae de mek yu layf de pan denja. So, di layf we dɛn pipul ya kin liv kin tan lɛk di wan we nɔmal pɔsin kin liv.

Yu tink se dɛn kin ebul fɔ avɔyd Fragile X Syndrome?

Nɔ, Fragile X Syndrome na wan sik wae de kam pan pɔrsin in jɛnɛtiks ɛn dɛn nɔr kin ebul fɔ avɔyd am. If yu de plan fɔ gɛt bɛlɛ, ɔ yu dɔn gɛt bɛlɛ, i fayn fɔ tɔk to pɔsin we de advays yu bɔt yu pikin bɔt di risk we yu pikin gɛt fɔ gɛt dis sik.

Aw layf tan lɛk wit Fragile X Syndrome?

Fragile X Syndrome nɔ de afɛkt ɔl pikin di sem we. Yu pikin in mɛdikal tim kin gi yu bɛtɛ aidia bɔt aw i go afɛkt yu pikin ɛn in famili. Pan ɔl we sɔm pan di tin dɛn we de apin kin tranga, bɔku fayn tin dɛn de bak. Fɔ ɛgzampul, sɔm pipul dɛn we de stɔdi bɔt dis dɔn si pipul dɛn we gɛt Fragile X:

• I kin ɛp wi.
• Kayn.
• Fɔ tink bɔt ɔda pipul dɛn.
• Bi padi.
• Yu kin falamakata am fayn fayn wan.
• Memori we yu de si ɛn mɛmori fɔ lɔng tɛm na gud tin.
• A lɛk jok ɛn a kin si am se i fani.

Aw a go ɛp mi padi/famili mɛmba wit Fragile X Syndrome?

Yu fɔ no mɔ as yu ebul. Luk fɔ sɔpɔt grup ɛn kɔmyuniti risɔs dɛn we go ɛp yu ɛn dɛn. Layf skil program dɛn kin fayn. Sɔm kin gi advays bɔt tin dɛn lɛk:

• Sɔshial aktiviti dɛn.
• Seks fɔ du mami ɛn dadi biznɛs.
• Di tin dɛn we pɔsin kin lɛk fɔ du.
• Skul biznɛs.
• Job dɛn.

I rili impɔtant fɔ mek yu advatayz fɔ yu pikin fɔ mek shɔ se i gɛt di kia we i nid ɛn gɛt di bɛst kwaliti fɔ liv.

Ustɛm a fɔ kɛr mi pikin go to dɔktɔ?

Tek yu pikin go to dɔktɔ fɔ pikin dɛn jɔs afta yu notis di sayn dɛm fɔ Fragile X Syndrome. Nɔ delay, bikɔs fɔ ɛp yu kwik kwik wan rili impɔtant.

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ?

Na sɔm kwɛstyɔn dɛn wae yu kin aks yu dɔktɔ wae yu de tɔk bɔt aw yu gɛt dis sik:

• Yu tink se mi pikin fɔ go to spɛshal pɔsin?
• Us kayn tritmɛnt pipul dɛn mi pikin fɔ si?
• Aw siriɔs Fragile X Syndrome de?
• Us mɛrɛsin fayn fɔ mi pikin?
• Aw a go ɛp mi pikin?
• Wetin na di opshɔn dɛn we a kin du fɔ ɛp fɔ du sɔntin kwik kwik wan?
• Aw wi as famili go ɛp mi pikin?

Fɔ no se yu gɛt Fragile X Syndrome kin tranga fɔ yu ɛn yu pikin. Na di biginin fɔ bɔku chenj ɛn ajɔstmɛnt dɛn. Tin dɛm lɛk tritmɛnt, mɛrɛsin, ɛn fɔ slip na skul naw na pat pan yu pikin in layf. We yu de ɛp yu pikin, nɔ fɔgɛt wetin yu nid. Mɛmba se, fɔ gɛt yu pikin wit Fragile X Syndrome min se yu kin gɛt bɔku ɔda wɛlbɔdi prɔblɛm dɛn bak, lɛk pwɛl hat ɛn maygren.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

So, wi dɔn tɔk bɔku bɔt Fragile X Syndrome tide. Na sɔm impɔtant tin dɛn we yu fɔ mɛmba:

• Dis na jɛnɛtik kɔndishɔn , we min se na frɔm dɛn mama ɛn papa dɛn kin gɛt am.
• Dis kin bi fɔ ɔl yu layf , bɔt dɛn kin ebul fɔ kɔntrol di sayn dɛm.
• Fɔ no di sik kwik kwik wan, fɔ trit am kwik kwik wan, ɛn fɔ bigin fɔ gi di tritmɛnt savis dɛn we i nid, rili impɔtant fɔ mek di pikin gro.
• Jɔs lɛk di pikin, yu nid sɔpɔt. I at fɔ fes dɛn tin ya yu wan.
• Pan ɔl we prɔblɛm dɛn de wit dis sityueshɔn, dɛn pikin ya gɛt bɔku fayn tin dɛn bak ɛn tin dɛn we dɛn ebul fɔ du.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni ɔda kwɛstyɔn, duya nɔ fred fɔ tɔk to yu dɔktɔ.

` fragile x sεndrכm, fxs, jεnεtik dizayd, divεlכpmεnt dilay, intelektual disabiliti, pikin hεlth, lanin disabiliti