Mwana wenyu ane zviratidzo izvi here? Ngatikurukurei nezveFragile X Syndrome (FXS)

Ungave wakaona kuti mwana wako ari kusangana nekunonoka kukura kana kuti mamwe maitiro ake asinganzwisisike. Pamwe anonoka kutaura, kana kuti haadi kushamwaridzana nevamwe vana. Dzimwe nguva, kuseri kwezvinhu izvi, panogona kunge paine chirwere chinonzi Fragile X Syndrome (FXS). Usatye paunonzwa zita iri. Ngatitaurei nezvazvo zvakadzama nhasi, nenzira iri nyore, zvakanaka here?

Chii chinonzi Fragile X Syndrome?

Zvichitaurwa zviri nyore, Fragile X Syndrome chirwere chemajini chinopfuudzwa kubva kuchizvarwa kuenda kune chimwe chizvarwa . Chinogona kukonzera mwana kuchinja kwemuviri, matambudziko ehunhu, nezvimwe zvinetso zvehutano zvakasiyana-siyana. Semuenzaniso:

• Kunonoka kukura kwemwana.
• Kuremara kwepfungwa.
• Kuremara pakudzidza.
• Kugara uchinetseka.
• Kuoma kuteerera uye kusanyanya kuita zvinhu, chirwere chinozivikanwa seAttention-deficit/hyperactivity disorder (ADHD).
• Zvinogona kutoratidza zviratidzo zve autism spectrum disorder.

Inonzi "Fragile X" nekuti kana chromosome yeX ikaonekwa uchishandisa maikorosikopu, chimwe chikamu chayo chinoita se "chakatyoka" kana "chakatetepa." Rimwe zita rayo iMartin-Bell syndrome. Iri ndiro rimwe rezvirwere zvepfungwa nekukura (IDDs) zvinowanzo wanikwa nhaka.

Dambudziko iri rakajairika zvakadii?

Vaongorori havasi kuziva kuti vanhu vangani pasi rose vane Fragile X Syndrome, asi vanofungidzira kuti musikana mumwe chete pavasikana 11,000 uye mukomana mumwe pavakomana 7,000 vanogona kunge vaine chirwere ichi.

Ndezvipi zviratidzo zveFragile X Syndrome?

Fragile X Syndrome inogona kukanganisa njere dzemwana wako, hutano hwepfungwa, chitarisiko chake, uye maitiro ake. Ngatitarisei zviratidzo zvinowanzoonekwa munzvimbo imwe neimwe.

Matambudziko ane chekuita nehungwaru

• Kuremara pakudzidza: Zvinogona kuoma kudzidza nekurangarira zvinhu zvitsva.
• Kudzikira kweIQ: Vanhu pavanokura, mamakisi avo eIQ anogona kudzikira zvishoma.
• Kunonoka kukura kwemwana muhudiki: Semuenzaniso, vanogona kutanga kufamba, kutaura, uye kudya vari vega kupfuura vamwe vana.
• Kukanganisika kwekutaurirana pasina kutaura: Izvi zvinoreva kuti zvinogona kuoma kutaura pfungwa uchishandisa masaini, chitarisiko chechiso, nezvimwe zviratidzo zvisiri zvekutaura.
• Matambudziko ekunzwisisa nekutaura mutauro:Pazera remakore maviri, unogona kuona kuti mwana wako ari kusangana nematambudziko ekutaura nekunzwisisa mazwi.
• Kuomerwa nekugadzirisa matambudziko emasvomhu.

Iva nechokwadi chekutarisa kukura kwemwana wako kana paine chero kunonoka uku. Zvakakosha kutaura nachiremba wako nezvekuti ndeapi matanho ekukura akakodzera zera rega rega uye kuti ungaaongorora sei nemazvo.

Matambudziko ehutano hwepfungwa

• Kuzvidya mwoyo kakawanda.
• Mamiriro ezvinhu akadai sekuora mwoyo .
• Kuda kukuru kudzokorora kana kufunga nezvezvimwe zvinhu (maitiro ekunyanya kushushikana).

Hunhu hwemuviri

Zviratidzo izvi hazviitike kune munhu wese, asi zvimwe zvezviratidzo zvakajairika ndeizvi:

• Chiso chakarebesa, chakatetepa.
• Huma hombe.
• Dambudziko guru.
• Nzeve hombe.
• Maziso akapatsanurwa (strabismus).
• Minwe inochinjika zvakanyanya, kana kuti "ine majoini maviri".
• Tsoka dzakati sandara.
• Machende evakomana anokura mushure mekuyaruka.
• Mukanwa une muromo wakareba.
• Kushaya simba remhasuru (hypotonia), zvinoreva kuti muviri unganzwa wakaneta zvishoma.

Ndezvipi zvinetso zvetsika?

Fragile X Syndrome inogona kukonzera matambudziko akasiyana-siyana ehunhu hwemwana. Semuenzaniso:

• Kuoma kuteerera uye kusashanda zvakanyanya (ADHD).
• Kuzvidya mwoyo nevanhu uye kunyara. Fungidzira, paunoenda kupati kumba kwehama, unomira kure nevamwe vanhu uye unotarisa pasi kana mumwe munhu achitaura.
• Maitiro anodzokororwa akadai sekuombera maoko kana kuruma maoko.
• Kusada kutarisana nemaziso.
• Zvirwere zvepfungwa - Izvi zvinoreva kuti unogona kunge uine hanya nezvinhu zvakaita senzvimbo dzine vanhu vakawanda, mumwe munhu achikubata muviri, ruzha, zvimwe zvekudya, uye machira. Dzimwe nguva unogona kushamisika kunyangwe neruzha rudiki, kana kuti ungati haugone kudya zvimwe zvekudya.
• Kuomerwa nekunzwisisa manzwiro evamwe vanhu uye zviratidzo zvevanhu.

Chii chinokonzera Fragile X Syndrome?

Izvi zvinokonzerwa nekuchinja kwemajini mujini `FMR1` riri pa chromosome yedu X. Iri jini `FMR1` rinorayira muviri wedu kugadzira puroteni inonzi `FMRP`. Iri puroteni `FMRP` rinokosha zvikuru pakukura kwekubatana `(synapses)` pakati pemasero etsinga. Kuburikidza ne`synapses` idzi ndipo panofamba `(nerve impulses)`.

Nekuda kwekushanduka kwegene reFMR1, chikamu cheDNA chinonzi CGG triplet repeat chinova chakareba kupfuura zvakajairwa. Kazhinji, chikamu ichi chinodzokorora kanenge ka5 kusvika ku40, asi kune vanhu vane Fragile X Syndrome, chinodzokorora kanopfuura ka200 .Izvi zvinoita kuti jini re`FMR1` "rinyaradzwe", zvichireva kuti harigone kugadzira puroteni ye`FMRP` nemazvo. Izvi zvinokanganisa tsinga dzemwana uye zvinokonzera zviratidzo zveFragile X Syndrome.

Izvi zvinopfuudzwa sei kubva kuchizvarwa kuenda kune chimwe chizvarwa? (Muenzaniso weNhaka)

Fragile X Syndrome inowanikwa nhaka muX-linked dominant pattern. Izvi zvinoreva kuti gene rakachinjwa rinorikonzera riri paX chromosome. Rinotonga nekuti kunyangwe kuva nekopi imwe chete yegene rakachinjwa zvakakwana kukonzera chirwere ichi.

Fragile X Syndrome inowanikwa zvakanyanya muvakomana uye ine zviratidzo zvakanyanya nekuti vane X chromosome imwe chete. Vasikana vane X chromosome mbiri . Saka, kunyangwe kana X chromosome imwe chete iine shanduko, imwe X chromosome ine hutano inogona kusaratidza zviratidzo uye inogona kunge iri iyo inotakurwa chete. Zvisinei, vakomana vane Fragile X vanogara vachiratidza zviratidzo.

Pane dzimwe njodzi dzehutano here kune vanotakura Fragile X?

Ehe, zvakakosha zvikuru. Kana mwana wako aine Fragile X Syndrome, unofanira kuudza chiremba wako nezvazvo. Nekuti ungave uri mutakuri wechirwere ichi, ungave uine njodzi dzakawanda dzehutano, dzakadai se:

• Kuguma kuenda kumwedzi kunoitika munhu asati asvika makore makumi mana.
• Zvirwere zvine chekuita nendangariro zvakaita sedementia.
• Kukwira kweropa.
• Kuora mwoyo.
• Kuzvidya mwoyo.
• Migraine. (Marwadzo emusoro).
• Kudzikira kwebasa regland re thyroid (Hypothyroidism).
• Kurwadziwa kusingaperi.
• Kutadza kufema zvakanaka pakurara.

Ndezvipi zvinetso zvinogona kuitika zveFragile X Syndrome?

Dzimwe nguva vanhu vane Fragile X Syndrome vanogona kuva nezvimwe zvirwere. Mune imwe ongororo, vabereki vakataura kuti vana vavo vaivawo ne:

• Kubatwa nepfari.
• Matambudziko ekurara. Imwe ongororo yakawana kuti vana vana pavana gumi vane Fragile X uye autism spectrum disorder vaiva nematambudziko ekurara, zvichienzaniswa nevana vatatu pavana gumi vane Fragile X chete.
• Kushatirwa kana kushatirwa. Vana vane Fragile X, kunyanya avo vane autism spectrum disorder, vanowanzoita zvehasha.
• Maitiro ekuzvikuvadza.
• Kufuta zvakanyanya.

Fragile X Syndrome inoonekwa sei?

Kuti uone Fragile X Syndrome, sampuli yeDNA kubva muropa remwana wako kana imwe nyama inotorwa.Chiremba achatora sampuro yacho oitumira kurabhoritari. Ikoko, vachatarisa kuti vaone kana mwana wacho aine shanduko yambotaurwa kare mujini re'FMR1'.

Kana uine pamuviri uye uchifungidzira kuti mwana wako angave aine Fragile X Syndrome, unogona kusangana nachiremba wezvemajini uye woongororwa pamuviri zvakaita seizvi:

• Amniocentesis: Izvi zvinosanganisira kutora sampuro yemvura yeamniotic iri muchibereko woiedza.
• Kuongororwa kweChorionic villus: Izvi zvinosanganisira kutora sampuli yemasero kubva muplacenta uye kuaedza.

Chirwere ichi chinowanzoonekwa pazera ripi?

Vakomana vazhinji vanoonekwa vaine chirwere ichi pazera remwedzi 35-37 . Vasikana vanogona kuonekwa mushure memwedzi 42. Zvisinei, unogona kuona zvimwe zviratidzo pakutanga kwemwedzi 12.

Mibvunzo ipi inogona kubvunzwa nachiremba kuti abatsire kuongorora chirwere chacho?

Chiremba wemwana wako kana mupi wemazano ezvemajini asati arayira kuongororwa kweFragile X Syndrome, vanogona kukubvunza mibvunzo yakaita seiyi:

• Ndezvipi zviratidzo zvawakaona pamwana wako?
• Mwana wako anodzidza sei zvinhu zvitsva?
• Mwana wako anonyara here?
• Mwana wenyu ane matambudziko ekurara here?
• Mwana wako anogara achinetseka here?
• Mwana wenyu anodzivisa kutarisana mumaziso here?
• Mwana wenyu ane zvimwe zvinhu zvisingawanzoonekwi mumuviri wake here?
• Kugona kwemwana wako kutaura kwakadini?

Fragile X Syndrome inogona kuonekwa here kana munhu akura?

Kunyange hazvo Fragile X Syndrome ichiwanzoonekwa muhudiki, kune mamwe ma syndromes maviri mumhuri yeFragile X anokanganisa vanhu vakuru. Aya ndiwo:

• Fragile X-associated tremor/ataxia syndrome (FXTAS): Zviratidzo zvinosanganisira matambudziko ekuenzanisa, kukwazisana maoko, kusagadzikana kwemafungiro, kurasikirwa nekurangarira, matambudziko ekufunga, uye kusanzwa simba mumakumbo.
• Kusakwana kweX-associated primary ovarian insufficiency (FXPOI): Zviratidzo zvinosanganisira kudzikira kwekubereka, kuoma kubata pamuviri, kuenda kumwedzi zvisina kurongeka kana kusaenda kumwedzi, uye kuenda kumwedzi nguva isati yakwana.

Kana uine zviratidzo zvakaita seizvi, zvakanaka kutaura nachiremba.

Fragile X Syndrome inorapwa sei?

Hapana mushonga chaiwo weFragile X Syndrome.Zvisinei, zviratidzo zvechirwere ichi zvinogona kurapwa. Chiremba wemwana wako anogona kunyora mishonga yakasiyana-siyana. Heano mimwe mienzaniso, yakarongwa nezviratidzo:

• Kusagadzikana kwepfungwa kana pfari:
• Lithium kabhoneti
• Gabapentin (Neurontin®)
• Kune vane ADHD:
• Methylphenidate (Ritalin®, Concerta®) uye dextroamphetamine (Adderall®, Dexedrine®)
• Venlafaxine (Effexor®) uye nefazodone (Serzone®)
• Kune chirwere cheObsessive-Compulsive Disorder (OCD):
• Fluoxetine (Prozac®)
• Sertraline (Zoloft®) uye citalopram (Celexa®)
• Kune matambudziko ekurara:
• Trazodone (Desyrel®)
• Melatonin

Iyi ingori rondedzero diki yemishonga yaunganyorerwa nachiremba wako. Iva nechokwadi chekukurukura migumisiro inogona kuitika uye matambudziko emushonga wega wega nachiremba wako.

Pamusoro pemishonga, chiremba anowanzo kurudzira kurapwa kwepfungwa , inova nzira yekurapa inobatsira mwana kurarama nechirwere ichi uye kudzora maitiro ake.

Ramangwana revanhu vane Fragile X Syndrome rakaita sei?

Vamwe vanhu vane Fragile X Syndrome vanogona kurarama vakazvimiririra. Ongororo dzinoratidza kuti vasikana vanosvika vana pagumi uye vakomana mumwe pagumi vane Fragile X vanokura vachizvimiririra zvakanyanya. Vasikana vane mukana wakakura wekuti:

• Kuverenga mabhuku ane pfungwa itsva nemashoko matsva.
• Kutaura mitsara yakaoma.
• Kutaura nepamwero wakajairika.

Chirwere cheFragile X chinowanzo nyanya kuipa muvakomana. Vasikana vanosvika 8 pa20 vane Fragile X havadi rubatsiro pamabasa ezuva nezuva. Asi vakomana 1 chete pa20 vanobatsirwa. Kunyange zvazvo vasikana vazhinji vachipedza chikoro chesekondari, vakomana vazhinji havadi rubatsiro. Inenge hafu yevakadzi vane Fragile X vanoshanda nguva yakazara, asi vakomana 2 pa10 chete ndivo vanoshanda.

Mwana wangu anogona kuenda kuchikoro chevana vanochengetwa vana here?

Ehe, asi mwana wako angangoda pekugara pachikoro kana kuti kuchikoro. Zvimwe zvikamu zvechikoro nekirasi zvingangoda kugadziriswa kuti zvienderane nezvaanoda. Mudzidzisi wemwana wako angangokwanisa kugadzirisa nharaunda nehurongwa hwekudzidza.

Shanduko dzine chekuita nenharaunda:

• Kuchengetedza ruzha rwakaderera.
• Kuchengetedza chiedza chechisikigo.
• Kudzivisa nzvimbo dzine vanhu vakawanda.

Shanduko dzine chekuita nesirabhasi:

• Kushandisa zvinhu zvinoonekwa zvakaita semadhayagiramu, mapeji ekupenda, uye mifananidzo.
• Kubatsira vana kudzidza nekushandisa zvinhu zvavanoona zvichinakidza zvikuru .
• Kurayira mwana kuti ashande mumapoka madiki .

Iva nechokwadi chekuti wazivisa chikoro kuti mwana wako ane Fragile X Syndrome. Taura nemudzidzisi nezvezvinodiwa zvake. Ungangodawo kuona chiremba wepfungwa wechikoro uye/kana mupi wezano. Vanoshanda nevana vane makore anopfuura matatu. Dzimwe nyanzvi dzaungade kubata dzinosanganisira:

• Varapi vepabasa
• Varapi vemaitiro
• Nyanzvi dzezvirwere zvemutauro wekutaura
• Vashandi vezvemagariro evanhu

Bvunza chikoro chako nevanoona nezveutano kuti uwane rumwe ruzivo nezveizvi.

Fragile X Syndrome inogara kwenguva yakareba sei? Inguva yakareba sei yekurarama?

Fragile X Syndrome chirwere chinogara kwenguva refu. Hapana mushonga chaiwo wechirwere ichi.

Zvisinei, hapana chimwe chezviratidzo zveFragile X Syndrome chinoisa upenyu panjodzi. Saka, hupenyu hwevanhu ava hwakafanana nehwemunhuwo zvake.

Fragile X Syndrome inogona kudzivirirwa here?

Kwete, Fragile X Syndrome chirwere chemajini uye hachigoni kudzivirirwa. Kana uchironga kubata pamuviri, kana kuti watova nepamuviri, zvakakosha kutaura nenyanzvi yezvemajini nezvenjodzi yekuti mwana wako agare nhaka chirwere ichi.

Hupenyu hwakaita sei neFragile X Syndrome?

Fragile X Syndrome haibate mwana wese nenzira imwechete. Chikwata chevanachiremba chemwana wako chinogona kukupa pfungwa iri nani yekuti ichabata sei mwana wako nemhuri yako. Kunyange hazvo zvimwe zvinhu zvechirwere ichi zvichigona kuoma, kunewo zvinhu zvakawanda zvakanaka. Semuenzaniso, vaongorori vakaona vanhu vane Fragile X:

• Zvinobatsira.
• Mutsa.
• Kufunga nezvevamwe.
• Hushamwari.
• Inogona kutevedzerwa zvakanaka.
• Kuyeuka zvinhu zvinoonekwa uye kurangarira kwenguva refu zvakanaka.
• Ndinoda majee uye ndinoaona achisetsa.

Ndingabatsira sei shamwari/nhengo yemhuri ine Fragile X Syndrome?

Iva neruzivo rwakawanda sezvinobvira. Tsvaga mapoka ekutsigira uye zvinhu zvemunharaunda zvinogona kukubatsira iwe navo. Zvirongwa zvehunyanzvi hwehupenyu zvingave zvakakodzera. Mamwe anopa gwara pazvinhu zvakaita se:

• Mabasa emagariro evanhu.
• Bonde.
• Zvekuvaraidza.
• Dzidzo.
• Mabasa.

Zvakakosha kuti mutsigire mwana wenyu kuti ave nechokwadi chekuti anowana rubatsiro rwaanoda uye kuti ave nehupenyu hwakanaka.

Ndinofanira kuenda nemwana wangu kuna chiremba riini?

Enda nemwana wako kuna chiremba wevana kana wangoona zviratidzo zveFragile X Syndrome. Usanonoka, nekuti kupindira nekukurumidza kwakakosha zvikuru.

Mibvunzo ipi yandinofanira kubvunza chiremba?

Heano mimwe mibvunzo yaunogona kubvunza chiremba wako paunenge uchikurukura nezvechirwere chako:

• Mwana wangu anofanira kuona nyanzvi here?
• Vanachiremba verudzii vanofanira kubatsirwa nemwana wangu?
• Fragile X Syndrome yakakomba zvakadini?
• Mushonga upi wakakodzera mwana wangu?
• Ndingabatsira sei mwana wangu?
• Ndezvipi zvingasarudzwa zvandinogona kupindira nekukurumidza?
• Semhuri tingabatsira sei mwana wangu?

Kuongororwa kweFragile X Syndrome kunogona kukuomera iwe nemwana wako. Ndiko kutanga kwekuchinja kwakawanda nekugadzirisa. Zvinhu zvakaita sekurapwa, mishonga, uye dzidzo yechikoro zvava chikamu chehupenyu hwemwana wako. Paunenge uchibatsira mwana wako, usakanganwa zvaunoda. Yeuka, kuva nemwana wako ane Fragile X Syndrome zvinoreva kuti uri panjodzi huru yezvirwere zvakasiyana-siyana, zvakaita sekuora mwoyo uye migraine.

Pakupedzisira, zvinhu zvekurangarira

Saka, tataura zvakawanda nezveFragile X Syndrome nhasi. Heano mamwe mashoko akakosha ekurangarira:

• Ichi chirwere chemajini , zvichireva kuti chinhu chinopfuudzwa nezvizvarwa.
• Izvi ndezvehupenyu hwese , asi zviratidzo zvinogona kugadziriswa.
• Kuongororwa kwechirwere nekukurumidza, kurapwa nekukurumidza, uye kutanga kurapwa kwakakosha zvikuru pakukura kwemwana.
• Kufanana nemwana, unoda rutsigiro. Zvakaoma kutarisana nezvinhu izvi uri wega.
• Kunyangwe paine matambudziko nemamiriro ezvinhu aya, vana ava vanewo zvinhu zvakawanda zvakanaka uye hunyanzvi.

Ndinovimba ruzivo urwu ruchakubatsira. Kana muine mimwe mibvunzo, ndapota musazeza kutaura nachiremba wenyu.

` fragile x syndrome, fxs, genetic disorder, delay developmental, idealer intellectual disability, health child, learning disability