Ingabe ingane yakho inalezi zimpawu? Ake sixoxe nge-Fragile X Syndrome (FXS)

Kungenzeka ukuthi uqaphele ukuthi ingane yakho encane ibhekene nokubambezeleka kokukhula noma ezinye zezindlela zayo zokuziphatha ziyaxaka. Mhlawumbe ikhuluma sekwephuzile, noma ayifuni ukuhlangana nabanye abantwana. Ngezinye izikhathi, ngemuva kwalezi zinto, kungase kube nesimo esibizwa ngokuthi i-Fragile X Syndrome (FXS). Ungesabi uma uzwa leli gama. Ake sixoxe ngakho ngemininingwane ethe xaxa namuhla, ngendlela elula kakhulu, kulungile?

Iyini i-Fragile X Syndrome?

Kalula nje, i-Fragile X Syndrome yisimo sofuzo esidluliselwa kusuka esizukulwaneni kuya kwesinye . Singabangela ingane ukuba ibe nezinguquko ezithile zomzimba, izinkinga zokuziphatha, kanye nezinye izinkinga zempilo ezahlukahlukene. Isibonelo:

• Ukubambezeleka kokukhula kwengane.
• Ukukhubazeka kwengqondo.
• Ukukhubazeka kokufunda.
• Ukukhathazeka njalo.
• Ubunzima bokunaka kanye nokusebenza ngokweqile, isimo esaziwa ngokuthi yi-Attention-deficit/hyperactivity disorder (ADHD).
• Kungase kubonise ngisho nezimpawu zesifo se-autism spectrum.

Ibizwa ngokuthi "i-Fragile X" ngoba uma i-chromosome X ibukwa ngaphansi kwe-microscope, ingxenye yayo eyodwa ibonakala "iphukile" noma "ibuthakathaka." Elinye igama layo yi-Martin-Bell syndrome. Lesi esinye sezifo ezivame kakhulu ezizuzwe njengefa ngokwengqondo kanye nokuthuthukiswa (ama-IDD).

Sivame kangakanani lesi simo?

Abacwaningi abaqiniseki ukuthi bangaki abantu emhlabeni abane-Fragile X Syndrome, kodwa balinganisela ukuthi cishe oyedwa kwamantombazane angu-11,000 kanye nomfana oyedwa kwabangu-7,000 bangaba nalesi simo.

Yiziphi izimpawu ze-Fragile X Syndrome?

I-Fragile X Syndrome ingathinta ukuhlakanipha kwengane yakho, impilo yengqondo, ukubukeka komzimba, kanye nokuziphatha kwayo. Ake sibheke ukuthi yiziphi izimpawu ezivamile endaweni ngayinye.

Izinkinga ezihlobene nobuhlakani

• Ukukhubazeka kokufunda: Kungaba nzima ukufunda nokukhumbula izinto ezintsha.
• Ukwehla kwe-IQ: Njengoba abantu bekhula, amaphuzu abo e-IQ angase ehle kancane.
• Izinyathelo zokukhula ezibambezelekile ebuntwaneni: Isibonelo, zingase zifike sekwephuzile kunezinye izingane ekuqaleni ukuhamba, ukukhuluma, nokudla ngokuzimela.
• Ukukhubazeka kokuxhumana okungenazwi: Lokhu kusho ukuthi kungaba nzima ukuveza imibono usebenzisa ukushukuma komzimba, isimo sobuso, kanye nezinye izimpawu ezingewona amazwi.
• Izinkinga zokuqonda nokukhuluma ulimi:Uma usuneminyaka emibili, ungase uqaphele ukuthi ingane yakho inezinkinga ezithile zokukhuluma nokuqonda amagama.
• Ubunzima bokuxazulula izinkinga zezibalo.

Qiniseka ukuthi uhlola intuthuko yengane yakho ukuze ubone ukuthi akukho yini lokhu kubambezeleka. Kubalulekile ukukhuluma nodokotela wakho mayelana nokuthi yiziphi izinyathelo zokukhula ezifanele iminyaka ngayinye nokuthi ungazihlola kanjani ngendlela efanele.

Izinkinga zempilo yengqondo

• Ukukhathazeka njalo.
• Izimo ezinjengokucindezeleka .
• Isidingo esinamandla sokuphinda noma ukucabanga ngezinto ezithile (Ukuziphatha okuphoqelekile).

Izici zomzimba

Lezi zimpawu azibonakali kuwo wonke umuntu, kodwa ezinye zezimpawu ezivame kakhulu yilezi:

• Ubuso obude nobuncane.
• Ibunzi elikhulu.
• Inkinga enkulu.
• Izindlebe ezinkulu.
• Amehlo aphambene (strabismus).
• Iminwe iguquguquka kakhulu, noma "ihlangene kabili".
• Izinyawo ezisicaba.
• Amasende abafana ayakhula ngemva kokuthomba.
• Ulwanga olugobile.
• Ukuntuleka kwamandla emisipha (hypotonia), okusho ukuthi umzimba ungase uzizwe ubuthakathaka kancane.

Yiziphi izinkinga zokuziphatha?

I-Fragile X Syndrome ingabangela izinkinga eziningi zokuziphatha enganeni. Isibonelo:

• Ubunzima bokunaka kanye nokusebenza ngokweqile (ADHD).
• Ukukhathazeka kwabantu kanye namahloni. Cabanga nje, uma uya ephathini endlini yesihlobo, uhlala kude nabanye abantu futhi ubukele phansi lapho othile ekhuluma.
• Ukuziphatha okuphindaphindiwe njengokushaya izandla noma ukuluma.
• Ukungafuni ukubheka emehlweni.
• Ukuphazamiseka kwezinzwa - Lokhu kusho ukuthi ungase uzwele kakhulu ezintweni ezifana nezindawo ezinabantu abaningi, umuntu othinta umzimba wakho, umsindo, ukudla okuthile, kanye nezindwangu. Ngezinye izikhathi ungase wethuke ngisho nangomsindo omncane, noma ungase uthi awukwazi ukudla ukudla okuthile.
• Ubunzima bokuqonda imizwa yabanye abantu kanye nezimpawu zomphakathi.

Yini ebangela i-Fragile X Syndrome?

Lokhu kungenxa yokuguquka kwezakhi zofuzo ku-gene `FMR1` etholakala ku-chromosome yethu engu-X. Le gene `FMR1` iyala umzimba wethu ukuthi wenze iphrotheni ebizwa ngokuthi `FMRP`. Le phrotheni `FMRP` ibaluleke kakhulu ekuthuthukisweni kokuxhumana `(synapses)` phakathi kwamangqamuzana ezinzwa. Kungale `synapses` lapho izinzwa `(izinzwa)` zihamba khona.

Ngenxa yokuguquka kwezakhi zofuzo ze-FMR1, ingxenye ye-DNA ebizwa ngokuthi i-CGG triplet repeat iba yinde kakhulu kunokujwayelekile. Ngokuvamile, le ngxenye iphinda cishe izikhathi ezi-5 kuya kwezingama-40, kodwa kubantu abane-Fragile X Syndrome, iphinda izikhathi ezingaphezu kuka-200 .Lokhu kubangela ukuthi i-gene ethi `FMR1` "ithuliswe", okusho ukuthi ayikwazi ukwenza iphrotheni ethi `FMRP` ngendlela efanele. Lokhu kuthinta isimiso sezinzwa sengane futhi kubangele izimpawu ze-Fragile X Syndrome.

Lokhu kudluliselwa kanjani kusuka esizukulwaneni kuya kwesinye? (Iphethini Yefa)

I-Fragile X Syndrome izuzwe njengefa ngendlela elawulwa yi-X-linked dominant. Lokhu kusho ukuthi i-gene eguquliwe eyibangela itholakala ku-chromosome ye-X. "Iyabusa" ngoba ngisho nokuba nekhophi eyodwa ye-gene eguquliwe kwanele ukubangela lesi sifo.

I-Fragile X Syndrome ivame kakhulu kubafana futhi inezimpawu ezibucayi kakhulu ngoba bane-chromosome eyodwa kuphela ye-X. Amantombazane ane-chromosome ezimbili ze-X . Ngakho-ke, noma ngabe i-chromosome eyodwa ye-X inokuguquka, enye i-chromosome ye-X enempilo ingase ingakhombisi izimpawu futhi ingaba yimthwali kuphela. Kodwa-ke, abafana abane-Fragile X bahlala beba nezimpawu.

Ingabe zikhona ezinye izingozi zempilo zabathwali beFragile X?

Yebo, kubaluleke kakhulu. Uma ingane yakho ine-Fragile X Syndrome, kufanele utshele udokotela wakho ngayo. Ngenxa yokuthi ungase ube yimthwali, ungase ube nezingozi zempilo ezengeziwe, njenge:

• Ukunqamuka kokuya esikhathini kwenzeka ngaphambi kweminyaka engama-40.
• Izifo ezihlobene nenkumbulo ezifana ne-dementia.
• Umfutho wegazi ophezulu.
• Ukucindezeleka.
• Ukukhathazeka.
• I-Migraines.
• Ukungasebenzi kahle kwe-thyroid gland (i-Hypothyroidism).
• Ubuhlungu obungapheli.
• Ukuphefumula komoya.

Yiziphi izinkinga ezingaba khona ze-Fragile X Syndrome?

Ngezinye izikhathi abantu abane-Fragile X Syndrome bangaba nezinye izimo zempilo. Kokunye ukuhlola, abazali babike ukuthi nezingane zabo nazo zazinalokhu:

• Ukuquleka.
• Izinkinga zokulala. Olunye ucwaningo luthole ukuthi izingane ezine kweziyi-10 ezine-Fragile X kanye ne-autism spectrum disorder zazinezinkinga zokulala, uma kuqhathaniswa nezingane ezintathu kweziyi-10 ezine-Fragile X yodwa.
• Ulaka noma ukucasuka. Izingane ezine-Fragile X, ikakhulukazi lezo ezine-autism spectrum disorder, zinamathuba amaningi okuba nolaka.
• Ukuziphatha kokuzilimaza.
• Ukukhuluphala ngokweqile.

Itholakala kanjani i-Fragile X Syndrome?

Ukuze kutholakale i-Fragile X Syndrome, kuthathwa isampula ye-DNA egazini lengane yakho noma kwezinye izicubu.Udokotela uzothatha isampula ayithumele elebhu. Lapho, bazohlola ukuthi ingane inalo yini ushintsho olukhulunywe ngalo ngaphambili ku-gene ethi `FMR1`.

Uma ukhulelwe futhi usola ukuthi ingane yakho ingase ibe ne-Fragile X Syndrome, ungahlangana nomeluleki wezakhi zofuzo bese wenza izivivinyo zokukhulelwa ezifana nalezi:

• I-Amniocentesis: Lokhu kuhilela ukuthatha isampula yoketshezi lwe-amniotic esibelethweni bese uluhlola.
• Ukuthatha isampula ye-Chorionic villus: Lokhu kuhilela ukuthatha isampula yamaseli avela ku-placenta bese uwahlola.

Lesi sifo sivame ukutholakala sineminyaka emingaki?

Iningi labafana litholakala linesifo cishe lineminyaka engu-35-37 ubudala . Amantombazane angatholakala kamuva, cishe eneminyaka engu-42 ubudala . Kodwa-ke, ungase uqaphele ezinye izimpawu ekuqaleni kwezinyanga ezingu-12.

Yimiphi imibuzo udokotela angayibuza ukuze asize ekuxilongeni lesi sifo?

Ngaphambi kokuba udokotela wengane yakho noma umeluleki wezakhi zofuzo amyale ukuhlolwa kwe-Fragile X Syndrome, bangase bakubuze imibuzo efana nale:

• Yiziphi izimpawu ozibonile enganeni yakho?
• Ingane yakho izifunda kanjani izinto ezintsha?
• Ingabe ingane yakho inamahloni?
• Ingabe ingane yakho inezinkinga zokulala?
• Ingabe ingane yakho ihlala ikhathazekile?
• Ingabe ingane yakho iyakugwema ukubheka emehlweni?
• Ingabe ingane yakho inezici ezingavamile emzimbeni wayo?
• Ikhono lokukhuluma lengane yakho linjani?

Ingabe i-Fragile X Syndrome ingatholakala lapho umuntu esemdala?

Nakuba i-Fragile X Syndrome ivame ukutholakala ebuntwaneni, kunezinye izifo ezimbili emndenini we-Fragile X ezithinta abantu abadala. Lezi yizi:

• I-Fragile X-associated tremble/ataxia syndrome (FXTAS): Izimpawu zifaka phakathi izinkinga zokulinganisela, ukuxhawulana, ukungazinzi kwemizwelo, ukulahlekelwa yinkumbulo, izinkinga zokucabanga, kanye nokungabi namandla ezithweni zomzimba.
• Ukuntuleka kwe-ovarian okuhlobene ne-Fragile X (FXPOI): Izimpawu zifaka phakathi ukwehla kokuzala, ubunzima bokukhulelwa, ukuya esikhathini okungajwayelekile noma ukungabikho, kanye nokunqamuka kokuya esikhathini ngaphambi kwesikhathi.

Uma unezimpawu ezinjengalezi, kungcono ukukhuluma nodokotela.

Iphathwa kanjani i-Fragile X Syndrome?

Ayikho ikhambi eliqondile le-Fragile X Syndrome.Kodwa-ke, izimpawu zalesi simo zingelashwa. Udokotela wengane yakho angase akunikeze imithi ehlukahlukene. Nazi ezinye izibonelo, ezihlukaniswe ngezimpawu:

• Ukuwa noma ukungazinzi kwemizwa:
• I-lithium carbonate
• I-Gabapentin (Neurontin®)
• Nge-ADHD:
• I-Methylphenidate (i-Ritalin®, i-Concerta®) kanye ne-dextroamphetamine (i-Adderall®, i-Dexedrine®)
• I-Venlafaxine (i-Effexor®) kanye ne-nefazodone (i-Serzone®)
• Ngesifo sokungalawuleki (OCD):
• I-Fluoxetine (Prozac®)
• I-Sertraline (Zoloft®) kanye ne-citalopram (Celexa®)
• Ngezinkinga zokulala:
• I-Trazodone (i-Desyrel®)
• I-Melatonin

Lolu uhlu oluncane lwemithi udokotela wakho angase ayinikeze. Qiniseka ukuthi uxoxa ngemiphumela emibi engaba khona kanye nezinkinga zomuthi ngamunye nodokotela wakho.

Ngaphezu kwemithi, udokotela uvame ukuncoma ukwelashwa kwengqondo , okuyindlela yokwelapha esiza ingane ukuba iphile nalesi simo futhi ilawule ukuziphatha kwayo.

Liyini ikusasa labantu abane-Fragile X Syndrome?

Abanye abantu abane-Fragile X Syndrome bangaphila ngokuzimela. Izifundo zibonisa ukuthi cishe amantombazane angu-4 kwangu-10 kanye nomfana oyedwa kwangu-10 one-Fragile X bakhula bezimele kakhulu. Amantombazane anamathuba amaningi kunabafana okuba:

• Ukufunda izincwadi ezinemibono emisha namagama amasha.
• Ukukhuluma imisho eyinkimbinkimbi.
• Ekhuluma ngesivinini esijwayelekile.

I-Fragile X syndrome ivame ukuba nzima kakhulu kubafana. Cishe amantombazane angu-8 kwangu-20 ane-Fragile X awadingi usizo ngemisebenzi yansuku zonke. Kodwa umfana oyedwa kuphela kwangu-20 odinga usizo. Nakuba amantombazane amaningi eqeda esikoleni samabanga aphezulu, iningi labafana alidingi usizo. Cishe ingxenye yabesifazane abane-Fragile X basebenza isikhathi esigcwele, kodwa abafana ababili kuphela kwabayishumi abadinga usizo.

Ingane yami ingaya yini enkulisa/esikoleni?

Yebo, kodwa ingane yakho ingadinga indawo ekhethekile yokunakekela izingane noma esikoleni. Ezinye izingxenye zosuku lwesikole kanye nekilasi kungadingeka zilungiswe ukuze zivumelane nezidingo zayo. Uthisha wengane yakho angase akwazi ukwenza izinguquko ezithile endaweni kanye nekharikhulamu.

Izinguquko ezihlobene nemvelo:

• Ukugcina ukungcola komsindo kusezingeni eliphansi.
• Ukugcina ukukhanya kwemvelo kutholakala.
• Ukugwema izindawo ezinabantu abaningi.

Izinguquko ezihlobene nesilabhasi:

• Ukusebenzisa izinsiza ezibonakalayo njengemidwebo, amakhasi okufaka imibala, kanye nezithombe.
• Ukusiza izingane zifunde ngokusebenzisa izinto ezizithandayo kakhulu .
• Ukuqondisa ingane ukuthi isebenze ngamaqembu amancane .

Qiniseka ukuthi wazisa isikole ukuthi ingane yakho ine-Fragile X Syndrome. Khuluma nothisha ngezidingo zayo ezikhethekile. Ungase ufune nokubona isazi sokusebenza kwengqondo esikoleni kanye/noma umeluleki. Basebenza nezingane ezingaphezu kweminyaka emi-3 ubudala. Abanye ochwepheshe ongase ufune ukuxhumana nabo bahlanganisa:

• Abelaphi bomsebenzi
• Abelaphi bokuziphatha
• Izazi zezifo zolimi lokukhuluma
• Izisebenzi zezenhlalakahle

Buza isikole sakho kanye nabahlinzeki bezempilo bendawo ukuthola ulwazi olwengeziwe ngalokhu.

I-Fragile X Syndrome ihlala isikhathi esingakanani? Ingakanani iminyaka yokuphila?

I-Fragile X Syndrome iyisimo esihlala isikhathi eside. Ayikho ikhambi eliqondile laso.

Kodwa-ke, azikho izimpawu ze-Fragile X Syndrome ezisongela impilo. Ngakho-ke, isikhathi sokuphila salaba bantu sifana nesomuntu ojwayelekile.

Ingabe i-Fragile X Syndrome ingavinjelwa?

Cha, i-Fragile X Syndrome iyisimo sofuzo futhi asinakuvinjelwa. Uma uhlela ukukhulelwa, noma usuvele ukhulelwe, kufanelekile ukukhuluma nomeluleki wezakhi zofuzo ngengozi yokuthi ingane yakho ithole lesi simo njengefa.

Impilo injani nge-Fragile X Syndrome?

I-Fragile X Syndrome ayithinti yonke ingane ngendlela efanayo. Ithimba lezokwelapha lengane yakho lingakunikeza umbono ongcono wokuthi izoyithinta kanjani ingane yakho nomndeni wakho. Nakuba ezinye izici zalesi simo zingaba yinselele, kunezici eziningi ezinhle. Isibonelo, abacwaningi babone abantu abane-Fragile X:

• Kuyasiza.
• Uhlobo.
• Ukucabanga ngabanye.
• Ubungane.
• Kungalingiswa kahle.
• Inkumbulo ebonakalayo kanye nenkumbulo yesikhathi eside kuhle.
• Ngiyawathanda amahlaya futhi ngiwathola ehlekisa.

Ngingamsiza kanjani umngane/ilungu lomndeni one-Fragile X Syndrome?

Yiba nolwazi oluningi ngangokunokwenzeka. Funa amaqembu okusekela kanye nezinsiza zomphakathi ezingakusiza wena kanye nawo. Izinhlelo zamakhono okuphila zingase zifaneleke. Ezinye zinikeza isiqondiso ezintweni ezinjengalezi:

• Imisebenzi yomphakathi.
• Ucansi.
• Izinto ozithandayo.
• Imfundo.
• Imisebenzi.

Kubaluleke kakhulu ukuthi umele ingane yakho ukuqinisekisa ukuthi ithola ukunakekelwa ekudingayo futhi inekhwalithi engcono kakhulu yempilo.

Kufanele ngiyise nini ingane yami kudokotela?

Yisa ingane yakho kudokotela wezingane ngokushesha nje lapho ubona izimpawu ze-Fragile X Syndrome. Ungalibali, ngoba ukungenelela kusenesikhathi kubaluleke kakhulu.

Yimiphi imibuzo okufanele ngiyibuze udokotela?

Nazi ezinye imibuzo ongayibuza udokotela wakho lapho uxoxa ngokuxilongwa kwakho:

• Ingabe ingane yami kufanele ibone uchwepheshe?
• Hlobo luni lodokotela okufanele ingane yami ilubone?
• Ingakanani ingozi ye-Fragile X Syndrome?
• Yimuphi umuthi ofanele ingane yami?
• Ngingamsiza kanjani ingane yami?
• Yiziphi izinketho zami zokungenelela kusenesikhathi?
• Singamsiza kanjani njengomndeni ingane yami?

Ukuxilongwa kwe-Fragile X Syndrome kungaba nzima kuwe nakumntanakho. Kuyisiqalo sezinguquko eziningi kanye nokulungiswa. Izinto ezifana nokwelashwa, imithi, kanye nezindawo zokufunda esikoleni manje seziyingxenye yokuphila kwengane yakho. Ngesikhathi usiza ingane yakho, ungazikhohlwa izidingo zakho. Khumbula, ukuba nengane yakho ene-Fragile X Syndrome kusho ukuthi nawe usengozini enkulu yezinye izimo zempilo eziningana, njengokucindezeleka kanye ne-migraines.

Okokugcina, izinto okufanele uzikhumbule

Ngakho-ke, sikhulume kakhulu nge-Fragile X Syndrome namuhla. Nazi ezinye izinto ezibalulekile okufanele uzikhumbule:

• Lesi yisimo sofuzo , okusho ukuthi sizuzwe njengefa.
• Lokhu kungokwempilo yonke , kodwa izimpawu zingalawulwa.
• Ukuxilongwa kusenesikhathi, ukwelashwa kusenesikhathi, kanye nokuqaliswa kwezinsizakalo zokwelapha ezidingekayo kubaluleke kakhulu ekukhuleni kwengane.
• Njengengane, udinga ukwesekwa. Kunzima ukubhekana nalezi zinto wedwa.
• Nakuba kunezinselele ngalesi simo, laba bantwana banezinto eziningi ezinhle namakhono.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma uneminye imibuzo, sicela ukhululeke ukukhuluma nodokotela wakho.

` isifo se-fragile x, i-fxs, ukuphazamiseka kwezakhi zofuzo, ukubambezeleka kokukhula, ukukhubazeka kwengqondo, impilo yengane, ukukhubazeka kokufunda