Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tikambirane za Fragile X Syndrome (FXS)

Mwina mwazindikira kuti mwana wanu akuvutika ndi kuchedwa kukula kapena zina mwa makhalidwe ake ndi zachilendo. Mwina akuchedwa kulankhula, kapena sakufuna kucheza ndi ana ena. Nthawi zina, kumbuyo kwa zinthuzi, pakhoza kukhala vuto lotchedwa Fragile X Syndrome (FXS). Musachite mantha mukamva dzinali. Tiyeni tikambirane za izi mwatsatanetsatane lero, m'njira yosavuta, eti?

Kodi Fragile X Syndrome ndi chiyani?

Mwachidule, Fragile X Syndrome ndi matenda a majini omwe amapatsirana kuchokera ku mibadwomibadwo . Angayambitse mwana kusintha kwa thupi, mavuto a khalidwe, ndi mavuto ena azaumoyo. Mwachitsanzo:

• Kuchedwa kwa kukula kwa mwana.
• Kulephera kwa nzeru.
• Zovuta pakuphunzira.
• Nkhawa yobwerezabwereza.
• Kuvuta kumvetsera komanso kuchita zinthu mopitirira muyeso, matenda omwe amadziwika kuti Attention-deficit/hyperactivity disorder (ADHD).
• Zingasonyezenso zizindikiro za matenda a autism spectrum.

Imatchedwa "Fragile X" chifukwa chromosome ya X ikawonedwa pogwiritsa ntchito maikulosikopu, gawo limodzi limaoneka ngati "losweka" kapena "lofooka." Dzina lina la matendawa ndi Martin-Bell syndrome. Ili ndi limodzi mwa matenda ofala kwambiri a nzeru ndi chitukuko (IDDs).

Kodi vutoli ndi lofala bwanji?

Ofufuza sakudziwa bwino kuchuluka kwa anthu padziko lonse omwe ali ndi Fragile X Syndrome, koma akuyerekeza kuti pafupifupi mtsikana m'modzi mwa atsikana 11,000 ndi mnyamata m'modzi mwa anyamata 7,000 akhoza kukhala ndi vutoli.

Kodi zizindikiro za Fragile X Syndrome ndi ziti?

Matenda a Fragile X Syndrome angakhudze nzeru za mwana wanu, thanzi la maganizo, maonekedwe ake, ndi khalidwe lake. Tiyeni tiwone zizindikiro zomwe zimapezeka kawirikawiri m'mbali iliyonse.

Mavuto okhudzana ndi nzeru

• Zovuta pakuphunzira: Zingakhale zovuta kuphunzira ndi kukumbukira zinthu zatsopano.
• Kuchepa kwa IQ: Anthu akamakula, ziwerengero zawo za IQ zimatha kuchepa pang'ono.
• Kukula mochedwa kwa ana: Mwachitsanzo, akhoza kuyamba mochedwa kuyenda, kulankhula, ndi kudya okha kuposa ana ena.
• Kulephera kulankhulana popanda mawu: Izi zikutanthauza kuti zingakhale zovuta kufotokoza malingaliro pogwiritsa ntchito manja, nkhope, ndi zizindikiro zina zosagwiritsa ntchito mawu.
• Mavuto omvetsetsa ndi kulankhula chilankhulo:Ali ndi zaka ziwiri, mungazindikire kuti mwana wanu akuvutika kulankhula ndi kumvetsetsa mawu.
• Kuvuta kuthetsa mavuto a masamu.

Onetsetsani kuti mwayang'ana kukula kwa mwana wanu ngati pali kuchedwa kulikonse. Ndikofunikira kulankhula ndi dokotala wanu za zochitika zazikulu zomwe ziyenera kuchitika pa msinkhu uliwonse komanso momwe mungazizindikirire bwino.

Mavuto amisala

• Nkhawa yobwerezabwereza.
• Matenda monga kuvutika maganizo .
• Kufuna kwambiri kubwereza kapena kuganizira zinthu zina (makhalidwe okakamiza).

Makhalidwe a thupi

Zizindikiro izi sizimapezeka kwa aliyense, koma zina mwa zizindikiro zodziwika bwino ndi izi:

• Nkhope yayitali komanso yopapatiza.
• Chiphumi chachikulu.
• Nkhani yaikulu.
• Makutu akuluakulu.
• Maso opindika (strabismus).
• Zala zimakhala zopindika kwambiri, kapena "zolumikizana kawiri".
• Mapazi osalala.
• Machende a anyamata amakula akatha msinkhu.
• Mkamwa wokhotakhota kwambiri.
• Kusowa mphamvu kwa minofu (hypotonia), zomwe zikutanthauza kuti thupi likhoza kumva ngati likufooka pang'ono.

Kodi mavuto a khalidwe ndi otani?

Matenda a Fragile X angayambitse mavuto osiyanasiyana a khalidwe mwa mwana. Mwachitsanzo:

• Kuvuta kumvetsera ndi kuchita zinthu mopitirira muyeso (ADHD).
• Nkhawa ndi manyazi. Tangoganizirani, mukapita ku phwando kunyumba kwa wachibale, mumakhala kutali ndi anthu ena ndipo mumayang'ana pansi wina akamalankhula.
• Makhalidwe obwerezabwereza monga kuwomba m'manja kapena kuluma m'manja.
• Kusafuna kuyang'anana maso.
• Matenda a kumva - Izi zikutanthauza kuti mungakhale ndi chidwi kwambiri ndi zinthu monga malo odzaza anthu, munthu wina akukhudzani thupi lanu, phokoso, zakudya zina, ndi nsalu. Nthawi zina mungadabwe ndi phokoso laling'ono, kapena munganene kuti simungadye zakudya zina.
• Kuvuta kumvetsetsa momwe anthu ena akumvera komanso zizindikiro za anthu ena.

Kodi n’chiyani chimayambitsa Fragile X Syndrome?

Izi zimachitika chifukwa cha kusintha kwa majini mu jini ya `FMR1` yomwe ili pa chromosome yathu ya X. Jini ya `FMR1` iyi imalangiza thupi lathu kupanga puloteni yotchedwa `FMRP`. Puloteni ya `FMRP` iyi ndi yofunika kwambiri pakupanga kulumikizana kwa `(synapses)` pakati pa maselo amitsempha. Ndi kudzera mu `synapses` izi pomwe mitsempha ya `(neuron impulses)` imayenda.

Chifukwa cha kusintha kwa majini a FMR1, gawo la DNA lotchedwa CGG triplet repeat limakhala lalitali kwambiri kuposa lachizolowezi. Kawirikawiri, gawoli limabwereza pafupifupi nthawi 5 mpaka 40, koma mwa anthu omwe ali ndi Fragile X Syndrome, limabwerezanso nthawi zoposa 200 .Izi zimapangitsa kuti jini ya `FMR1` "ikhale chete", kutanthauza kuti singathe kupanga bwino puloteni ya `FMRP`. Izi zimakhudza mitsempha ya mwana ndipo zimayambitsa zizindikiro za Fragile X Syndrome.

Kodi izi zimadutsa bwanji kuchokera ku mibadwomibadwo? (Chitsanzo cha Cholowa)

Fragile X Syndrome imachokera ku X-linked dominant pattern. Izi zikutanthauza kuti jini yosinthika yomwe imayambitsa matendawa ili pa chromosome ya X. Ndi "yolamulira" chifukwa ngakhale kukhala ndi kopi imodzi ya jini yosinthika ndikokwanira kuyambitsa matendawa.

Fragile X Syndrome imapezeka kwambiri mwa anyamata ndipo imakhala ndi zizindikiro zoopsa kwambiri chifukwa ali ndi chromosome imodzi yokha ya X. Atsikana ali ndi ma chromosome awiri a X. Chifukwa chake, ngakhale chromosome imodzi ya X ili ndi kusintha kwa majini, chromosome ina yathanzi ya X singasonyeze zizindikiro ndipo ikhoza kukhala yonyamula yokha. Komabe, anyamata omwe ali ndi Fragile X nthawi zonse amakhala ndi zizindikiro.

Kodi pali zoopsa zina pa thanzi la anthu onyamula Fragile X?

Inde, ndikofunikira kwambiri. Ngati mwana wanu ali ndi Fragile X Syndrome, muyenera kuuza dokotala wanu za vutoli. Popeza mwina ndinu amene ali ndi matendawa, mungakhale ndi zoopsa zambiri pa thanzi lanu, monga:

• Kusamba kumachitika munthu asanakwanitse zaka 40.
• Matenda okhudzana ndi kukumbukira monga matenda amisala.
• Kuthamanga kwa magazi kwambiri.
• Kuvutika maganizo.
• Nkhawa.
• Mutu wopweteka kwambiri.
• Kuchepa kwa ntchito ya chithokomiro (Hypothyroidism).
• Kupweteka kosatha.
• Kulephera kupuma mokwanira.

Kodi mavuto omwe angakhalepo chifukwa cha Fragile X Syndrome ndi ati?

Nthawi zina anthu omwe ali ndi Fragile X Syndrome amatha kukhala ndi matenda ena. Mu kafukufuku wina, makolo adanenanso kuti ana awo anali ndi:

• Kugwidwa ndi khunyu.
• Mavuto a tulo. Kafukufuku wina adapeza kuti ana anayi mwa khumi omwe ali ndi Fragile X komanso autism spectrum disorder anali ndi mavuto a tulo, poyerekeza ndi ana atatu mwa khumi omwe ali ndi Fragile X yokha.
• Kukwiya kapena kukwiya. Ana omwe ali ndi Fragile X, makamaka omwe ali ndi vuto la autism spectrum, nthawi zambiri amakhala ankhanza.
• Makhalidwe odzivulaza.
• Kunenepa kwambiri.

Kodi Fragile X Syndrome imapezeka bwanji?

Kuti mudziwe ngati ali ndi Fragile X Syndrome, DNA yochokera m'magazi a mwana wanu kapena minofu ina imatengedwa.Dokotala adzatenga chitsanzocho n’kuchitumiza ku labu. Kumeneko, adzafufuza ngati mwanayo ali ndi kusintha komwe kwatchulidwa kale mu jini ya `FMR1`.

Ngati muli ndi pakati ndipo mukuganiza kuti mwana wanu akhoza kukhala ndi Fragile X Syndrome, mutha kukumana ndi mlangizi wa majini ndikuyesedwa mayeso apakati monga:

• Amniocentesis: Izi zimaphatikizapo kutenga chitsanzo cha madzi amniotic m'chiberekero ndikuchiyesa.
• Kuyesa mayeso a chorionic villus: Izi zimaphatikizapo kutenga zitsanzo za maselo kuchokera ku placenta ndikuwayesa.

Kodi matendawa nthawi zambiri amapezeka ali ndi zaka zingati?

Anyamata ambiri amapezeka ndi matendawa ali ndi miyezi 35-37 . Atsikana amatha kupezeka ndi matendawa patapita nthawi, ali ndi miyezi 42. Komabe, mungazindikire zizindikiro zina mukangofika miyezi 12.

Ndi mafunso ati omwe dokotala angafunse kuti athandize kuzindikira matendawa?

Dokotala wa mwana wanu kapena mlangizi wa majini asanalamule kuti muyesedwe Fragile X Syndrome, angakufunseni mafunso monga awa:

• Ndi zizindikiro ziti zomwe mwaona mwa mwana wanu?
• Kodi mwana wanu amaphunzira bwanji zinthu zatsopano?
• Kodi mwana wanu ndi wamanyazi?
• Kodi mwana wanu ali ndi vuto la kugona?
• Kodi mwana wanu nthawi zonse amakhala ndi nkhawa?
• Kodi mwana wanu amapewa kuyang'anana maso ndi munthu wina?
• Kodi mwana wanu ali ndi mawonekedwe achilendo pa thupi lake?
• Kodi luso la mwana wanu lolankhula lili bwanji?

Kodi Fragile X Syndrome ingapezeke munthu akakula?

Ngakhale kuti Fragile X Syndrome nthawi zambiri imapezeka ali mwana, palinso matenda ena awiri m'banja la Fragile X omwe amakhudza akuluakulu.

• Matenda a Fragile X-associated tremor/ataxia syndrome (FXTAS): Zizindikiro zake ndi monga mavuto a kusasinthasintha, kugwirana chanza, kusakhazikika kwa maganizo, kuiwala, mavuto oganiza, komanso dzanzi m'miyendo.
• Kusakwanira kwa ovarian komwe kumayambitsidwa ndi X (FXPOI): Zizindikiro zake ndi monga kuchepa kwa kubereka, kuvutika kutenga pakati, kusasamba kosakhazikika kapena kusasamba nthawi yayitali, komanso kusamba msanga.

Ngati muli ndi zizindikiro ngati izi, ndi bwino kulankhula ndi dokotala.

Kodi Fragile X Syndrome imachiritsidwa bwanji?

Palibe mankhwala enieni a Fragile X Syndrome.Komabe, zizindikiro za vutoli zitha kuchiritsidwa. Dokotala wa mwana wanu akhoza kukupatsani mankhwala osiyanasiyana. Nazi zitsanzo zina, zomwe zagawidwa m'magulu malinga ndi zizindikiro:

• Khunyu kapena kusakhazikika kwa maganizo:
• Lithiamu carbonate
• Gabapentin (Neurontin®)
• Kwa ADHD:
• Methylphenidate (Ritalin®, Concerta®) ndi dextroamphetamine (Adderall®, Dexedrine®)
• Venlafaxine (Effexor®) ndi nefazodone (Serzone®)
• Kwa matenda ovutika maganizo (OCD):
• Fluoxetine (Prozac®)
• Sertraline (Zoloft®) ndi citalopram (Celexa®)
• Pa mavuto ogona:
• Trazodone (Desyrel®)
• Melatonin

Uwu ndi mndandanda wa mankhwala ochepa chabe omwe dokotala wanu angakupatseni. Onetsetsani kuti mwakambirana ndi dokotala wanu za zotsatirapo zake ndi mavuto omwe angakhalepo chifukwa cha mankhwala aliwonse.

Kuwonjezera pa mankhwala, dokotala nthawi zambiri amalangiza psychotherapy , yomwe ndi njira yothandizira yomwe imathandiza mwana kukhala ndi vutoli ndikulamulira khalidwe lake.

Kodi tsogolo la anthu omwe ali ndi Fragile X Syndrome ndi lotani?

Anthu ena omwe ali ndi Fragile X Syndrome amatha kukhala paokha. Kafukufuku akusonyeza kuti pafupifupi atsikana anayi pa 10 aliwonse ndi anyamata m'modzi pa 10 aliwonse omwe ali ndi Fragile X amakula ndikukhala odziyimira pawokha kwambiri. Atsikana ali ndi mwayi waukulu woti:

• Kuwerenga mabuku okhala ndi malingaliro atsopano ndi mawu atsopano.
• Kulankhula ziganizo zovuta.
• Kulankhula pa liwiro labwinobwino.

Matenda a Fragile X nthawi zambiri amakhala oopsa kwambiri mwa anyamata. Atsikana pafupifupi 8 mwa 20 omwe ali ndi Fragile X safuna thandizo pa ntchito za tsiku ndi tsiku. Koma mnyamata mmodzi yekha mwa 20 amafunikira thandizo. Ngakhale atsikana ambiri amaliza sukulu ya sekondale, anyamata ambiri satero. Pafupifupi theka la akazi omwe ali ndi Fragile X amagwira ntchito nthawi zonse, koma anyamata awiri okha mwa 10 ndi omwe amagwira ntchito.

Kodi mwana wanga angapite ku sukulu yosamalira ana?

Inde, koma mwana wanu angafunike malo apadera osamalira ana kapena kusukulu. Mbali zina za sukulu ndi kalasi zingafunike kusinthidwa kuti zigwirizane ndi zosowa zake. Aphunzitsi a mwana wanu atha kusintha zina ndi zina pa malo ndi maphunziro ake.

Zosintha zokhudzana ndi chilengedwe:

• Kuchepetsa phokoso loipa.
• Kusunga kuwala kwachilengedwe.
• Kupewa malo odzaza anthu.

Zosintha zokhudzana ndi silabasi:

• Kugwiritsa ntchito zinthu zooneka monga ma diagram, masamba opaka utoto, ndi zithunzi.
• Kuthandiza ana kuphunzira pogwiritsa ntchito zinthu zomwe amaona kuti n'zosangalatsa kwambiri .
• Kulangiza mwana kuti agwire ntchito m'magulu ang'onoang'ono .

Onetsetsani kuti mwadziwitsa sukulu kuti mwana wanu ali ndi Fragile X Syndrome. Lankhulani ndi aphunzitsi za zosowa zawo zapadera. Mungafunenso kuonana ndi katswiri wa zamaganizo kusukulu ndi/kapena mlangizi. Amagwira ntchito ndi ana azaka zopitirira 3. Akatswiri ena omwe mungafune kulankhulana nawo ndi awa:

• Akatswiri a zamaganizo pantchito
• Akatswiri a khalidwe
• Akatswiri a matenda a chilankhulo
• Ogwira ntchito zachitukuko

Funsani sukulu yanu ndi ogwira ntchito zachipatala kuti mudziwe zambiri za izi.

Kodi Fragile X Syndrome imatenga nthawi yayitali bwanji? Kodi nthawi yoti munthu akhale ndi moyo ndi yotani?

Fragile X Syndrome ndi matenda omwe munthu amakhala nawo kwa moyo wake wonse. Palibe mankhwala enieni a matendawa.

Komabe, palibe chizindikiro chilichonse cha Fragile X Syndrome chomwe chili pachiwopsezo cha moyo. Chifukwa chake, nthawi ya moyo ya anthuwa ndi yofanana ndi ya munthu wabwinobwino.

Kodi Fragile X Syndrome ingapewedwe?

Ayi, Fragile X Syndrome ndi matenda a majini ndipo sangapewedwe. Ngati mukukonzekera kutenga pakati, kapena muli kale ndi pakati, ndi bwino kulankhula ndi mlangizi wa majini za chiopsezo choti mwana wanu adzalandire matendawa.

Kodi moyo uli bwanji ndi Fragile X Syndrome?

Matenda a Fragile X Syndrome sakhudza mwana aliyense mofanana. Gulu lachipatala la mwana wanu lingakuuzeni bwino momwe angakhudzire mwana wanu ndi banja lanu. Ngakhale kuti zinthu zina za matendawa zingakhale zovuta, palinso zinthu zambiri zabwino. Mwachitsanzo, ofufuza awona anthu omwe ali ndi matenda a Fragile X:

• Ndi zothandiza.
• Mtundu.
• Kuganizira za ena.
• Waubwenzi.
• Ikhoza kutsanziridwa bwino.
• Kukumbukira zinthu zooneka ndi kukumbukira zinthu kwa nthawi yayitali n'kwabwino.
• Ndimakonda nthabwala ndipo ndimaziona zoseketsa.

Kodi ndingathandize bwanji mnzanga/wa m'banja langa amene ali ndi Fragile X Syndrome?

Khalani odziwa zambiri momwe mungathere. Yang'anani magulu othandizira ndi zinthu zina zomwe zingakuthandizeni inu ndi iwo. Mapulogalamu a luso la moyo angakhale oyenera. Ena amapereka malangizo pazinthu monga:

• Zochita za anthu.
• Kugonana.
• Zosangalatsa.
• Maphunziro.
• Ntchito.

Ndikofunikira kwambiri kuti mulimbikitse mwana wanu kuti aonetsetse kuti akulandira chisamaliro chomwe akufunikira komanso kuti akhale ndi moyo wabwino kwambiri.

Kodi ndiyenera kupita ndi mwana wanga kwa dokotala liti?

Pitani ndi mwana wanu kwa dokotala wa ana mwamsanga mukangoona zizindikiro za Fragile X Syndrome. Musazengereze, chifukwa kuchitapo kanthu msanga n'kofunika kwambiri.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala?

Nazi mafunso ena omwe mungafunse dokotala wanu mukakambirana za matenda anu:

• Kodi mwana wanga ayenera kupita kwa katswiri?
• Kodi mwana wanga ayenera kuonana ndi akatswiri otani a zachipatala?
• Kodi Fragile X Syndrome ndi yoopsa bwanji?
• Ndi mankhwala ati oyenera mwana wanga?
• Kodi ndingathandize bwanji mwana wanga?
• Kodi njira zanga zothandizira mwamsanga ndi ziti?
• Kodi ife monga banja tingamuthandize bwanji mwana wanga?

Kuzindikira matenda a Fragile X Syndrome kungakhale kovuta kwa inu ndi mwana wanu. Ndi chiyambi cha kusintha ndi kusintha kwakukulu. Zinthu monga chithandizo, mankhwala, ndi maphunziro a kusukulu tsopano ndi gawo la moyo wa mwana wanu. Pamene mukuthandiza mwana wanu, musaiwale zosowa zanu. Kumbukirani, kukhala ndi mwana wanu ndi Fragile X Syndrome kumatanthauza kuti muli pachiwopsezo chachikulu cha matenda ena ambiri, monga kuvutika maganizo ndi mutu.

Pomaliza, zinthu zoti muzikumbukira

Kotero, lero takambirana zambiri za Fragile X Syndrome. Nazi zinthu zofunika kukumbukira:

• Ichi ndi vuto la majini , kutanthauza kuti ndi chinthu chomwe chimadutsa m'mibadwomibadwo.
• Izi ndi za moyo wonse , koma zizindikiro zimatha kuthetsedwa.
• Kuzindikira matenda msanga, kulandira chithandizo msanga, ndi kuyambitsa chithandizo chofunikira chamankhwala ndikofunikira kwambiri pakukula kwa mwana.
• Monga mwana, mumafunika chithandizo. N'zovuta kuthana ndi zinthuzi nokha.
• Ngakhale kuti pali zovuta ndi vutoli, ana awa alinso ndi zinthu zambiri zabwino komanso maluso ambiri.

Ndikukhulupirira kuti izi zikuthandizani. Ngati muli ndi mafunso ena, chonde musazengereze kulankhula ndi dokotala wanu.

Matenda a x ofooka, fxs, matenda a majini, kuchedwa kukula, kulemala kwa nzeru, thanzi la ana, kulemala kuphunzira