Uropi hwemwana wako "hwakatsetseka" here? Ngatitaurei nezveLissencephaly!

Wakambonzwa here nezvemwana ari kuzvarwa aine "uropi hwakatsetseka"? Ungave wakatya zvishoma pawakanzwa mashoko aya. Nhasi, ngatitaurei nezvechirwere ichi chinonzi 'Lissencephaly', kuti nei chichiitika, uye kuti chinokanganisa sei mwana. Kunyangwe iyi iri nyaya yakaoma, ndichaitsanangura nenzira yaunogona kunzwisisa.

Chii chinonzi 'Lissencephaly'?

Zvichitaurwa zviri nyore, `Lissencephaly` zvinoreva `uropi hwakatsetseka.`` Uku kutadza kweuropi kunowanzoitika uye kwakakomba. Kunoitika mwana achiri mudumbu.

Funga nezvazvo, uropi hwedu hwakafanana newalnut, handiti? Hune makomba akawanda (gyri) uye makomba (sulci). Makomba aya akakosha zvikuru. Anoparadzanisa zvikamu zvakasiyana zveuropi, uye anowedzera nzvimbo yepamusoro yeuropi, izvo zvinotibatsira kukudziridza njere dzedu nekugona kufunga.

Zvino, mumwana ane `Lissencephaly`, aya `gyri` ne`sulci` haakure zvakanaka muuropi. Ipapo uropi hunotaridzika zvakanaka. Sebhodhi rakatsetseka. Ndosaka richinzi "uropi hwakatsetseka" .

Lissencephaly inogona kuuya mumhando dzakasiyana-siyana. Kune mhando huru dzinopfuura makumi maviri. Asi kazhinji idzi dzakakamurwa kuita mapoka maviri makuru:

• Lissencephaly yekare (Rudzi 1)
• Cobblestone lissencephaly (Rudzi rwechipiri )

Kunyange zvazvo zviratidzo zvemapoka ese ari maviri zvakafanana, kushanduka kwemajini kunokonzera izvi kunogona kusiyana.

Dzimwe nguva `Lissencephaly` inoitika yoga, kureva kuti, pasina zvimwe zviratidzo. Tinoidaidza kuti `isolated lissencephaly`. Dzimwe nguva, inogona kuitika pamwe chete nezvimwe zvirwere (`syndromes`) zvakaita se`Miller-Dieker syndrome` kana `Walker-Warburg syndrome`.

Vana vane chirwere cheLissencephaly vanowanzova nekunonoka kukuru mukukura uye kuremara kwepfungwa . Zvisinei, izvi zvinosiyana kubva pamwana kuenda kumwana, zvichienderana nekuoma kwechirwere ichi.

Ndiani anowana chirwere cheLissencephaly? Chinowanikwa kakawanda sei?

Lissencephaly inokanganisa vana vari kukura . Inowanzo tanga pakati pemavhiki gumi nemaviri kusvika makumi maviri nemana ekuzvitakura. Inowanzo konzerwa nekuchinja kwemajini. Zvisinei, inogonawo kukonzerwa nezvikonzero zvisiri zvemajini.

Ichi chirwere chisingawanzoitiki . Sekureva kwevaongorori, mwana mumwe chete pavana 100,000 anozvarwa aine chirwere cheLissencephaly. Saka musavhunduke neizvi, asi zvakakosha kuziva.

Ndezvipi zviratidzo zvemwana ane lissencephaly?

Zviratidzo zve lissencephaly zvinosiyana zvikuru. Zvinoenderana nekuoma kwechirwere uye kana chakabatana nezvimwe zvirwere. Vamwe vana vanogona kukura zvakanaka vasina matambudziko ekudzidza. Kunyange vamwe vangave nezviratidzo zvakakomba. Kuoma kwezviratidzo izvi kunosiyanawo zvikuru.

Saka, zvakakosha zvikuru kutaura nachiremba wako nezvezvaunotarisira zvichienderana nerudzi rwechirwere che lissencephaly chine mwana wako.

Zvimwe zvezviratidzo zve'Lissencephaly' ndeizvi:

• Kubatwa nepfari: Vana vapfumbamwe pavana gumi vane chirwere chepfari vanobatwa nepfari mukati megore rekutanga rehupenyu hwavo. Ichi ndicho chiratidzo chinowanzoitika.
• Kuoma kwekumedza (dysphagia) uye kudya: Mwana anogona kunetseka nekumedza chikafu.
• Kunonoka kukura: Mwana anogona kusakura sezvaanotarisirwa zvichienderana nezera rake. Zvinhu zvakaita sekunyemwerera, kusimudza musoro wake, kukunguruka, uye kugara zvinogona kunonoka.
• Kuremara kwepfungwa nekusiyana kwekudzidza: Kukura kwepfungwa kunogona kukanganiswa.
• Kugwinha kwetsandanyama: Kugwinha kwetsandanyama nekugwinha kunogona kuitika.
• Matambudziko ane chekuita nekushanda kwepfungwa: Panogona kunge paine matambudziko ekubatana kwemaoko nemaziso, kufamba, uye kubata zvinhu.
• Kukundikana kukura zvakanaka: Kukura kwemuviri wemwana kunogona kunonoka zvikuru. Anogona kusawedzera uremu uye anogona kuramba akatetepa.
• Musoro mudiki pane wakajairika (microcephaly): Musoro unogona kunge uri mudiki pane wakajairika pazera.
• Kusiyana kwemakumbo nemaoko: Unogona kuzvarwa uine kusiyana kwakasiyana mumaoko, minwe, nezvigunwe.

Sei `Lissencephaly` ichiitika? Ndezvipi zvikonzero?

Lissencephaly inogona kukonzerwa nezvinhu zvemajini nezvisiri zvemajini. Inowanzo buda mudumbu, pakati pemavhiki gumi nemaviri kusvika makumi maviri nemana epamuviri.

Zvichitaurwa zviri nyore, zvikonzero izvi zvinokonzerwa nekusafamba zvakanaka kwetsinga dzeuropi dzechikamu chekunze cheuropi hwemwana (masero etsinga). Funga nezvazvo, chikamu cheuropi hwedu chinoita kuti munhu afambe zvakanaka uye afunge chinonzi cerebral cortex. Kazhinji kacho chine makomba akadzika (gyri) uye migero (sulci), handiti?

Uropi hwemwana pahunokura mudumbu, masero matsva anoumbwa, ayo anozova masero etsinga chaiwo uye anofamba achienda pamusoro peuropi hwemwana. Izvi zvinonzi 'neuronal migration'. Nenzira iyi, masero akati wandei anoumbwa. Aya masero anoumba 'gyri' (mafolds).

Asi kana iri `Lissencephaly`, masero aya haaende kwaanoda kuenda. Zvadaro `cerebral cortex` yemwana haiumbi masero akakwana. Nekuda kweizvi, `gyri` (mafold) iwayo anenge asipo kana kuti asina kukura zvakanaka.

Zvikonzero zvisiri zvemajini

Kunyangwe zvisingawanzoitiki, zvikonzero zvisiri zvemajini zvinogonawo kukonzera lissencephaly.

• Utachiona hwemavhairasi muna amai vane pamuviri kana mwana asati aberekwa: Humwe utachiona hwemavhairasi, kunyanya mumwedzi mitatu yekutanga yekuzvitakura (vhiki yekutanga kusvika vhiki yegumi nembiri), hunogona kukanganisa mwana ari mudumbu.
• Kuderera kweropa rine oxygen muuropi hwemwana (ischemia): Dambudziko iri rinogona kuitika kana huwandu hweoxygen hunowanikwa muuropi hukadzikira sezvo mwana achikura mudumbu.

Zvikonzero zvemajini

Lissencephaly inowanzo kukonzerwa nekuchinja kwemajini . Kuchinja kwemajini kuchinja kweDNA yedu. Unoziva, kutevedzana kweDNA yedu ndiko kunopa masero edu ruzivo rwaanoda kuti aite mabasa awo. Saka kana chikamu chekutevera kweDNA iyi chisina kukwana kana kukuvara, zviratidzo zvechirwere chemajini zvinogona kuitika.

Mwana anogona kugara nhaka iyi shanduko yemajini kubva kumubereki mumwe chete kana vese. Zvinoenderana nekuti shanduko yemajini inogarwa nhaka sei. Asi dzimwe nguva shanduko idzi dzemajini dzinogona kuitika 'nechisikigo', pasina chero munhu mumhuri akambova nedambudziko iri.

Masayendisiti akaona majini akawanda anogona kukonzera lissencephaly. Mamwe acho ndeaya:

• Jini re`LIS1` (`PAFAH1B1`): Kuchinja (`mutation`) kana kurasikirwa nechikamu (`deletion`) chejini iri kunobatanidzwa ne`isolated lissencephaly` pamwe ne`Miller-Dieker syndrome`.
• Jini re'DCX`: Iri ijini riri pa'X` chromosome. Sezvamunoziva, varume vane chromosome imwe chete ye'X` uye chromosome imwe ye'Y`. Saka, vana vechirume vane mukana wekuva ne'Lissencephaly` nekuda kwekuchinja kwemajini uku. Sezvo vana vechikadzi vachiwanzova nema 'X` chromosomes maviri, kunyangwe vakabatwa nechirwere ichi, zviratidzo zvacho hazviwanzo kuva zvakanyanya.
• Jini re`ARX`: Vacheche vane shanduko mujini iri vane `Lissencephaly` pamwe chete nezvimwe zviratidzo. Semuenzaniso, kusavapo kwezvikamu zveuropi (`agenesis of the corpus callosum`), kusashanda zvakanaka kwenhengo dzesikarudzi, uye pfari yakanyanya. Jini re`ARX` ririwo pa `X` chromosome. Nokudaro, vacheche vechirume vanowanzo kubatwa.
• Jini re`RELN`: Kuchinja kwejini iri kunokonzera chirwere chinonzi `Norman-Roberts syndrome`, icho chinosanganisirawo `Lissencephaly`.

Lissencephaly inoonekwa sei?

Dzimwe nguva, vanachiremba vanogona kufungira kuti mwana ane chirwere ichi panguva yekuzvitakura kana mumwe munhu mumhuri akambova nacho kare, kana kuti kana ultrasound scan panguva yekuzvitakura ikakonzera kunetseka. Kana zvakadaro, chinogona kuonekwa kuburikidza nekuongororwa kwakakosha panguva yekuzvitakura, senge amniocentesis, uye fetal magnetic resonance imaging (MRI) scan yeuropi hwemwana.

Kana zvisina kudaro, vanachiremba vanowanzo ongorora `Lissencephaly` mushure mekunge mwana aberekwa, kuburikidza nekuongororwa kwemuviri wemwana uye `kuongororwa kwemusoro' kwemifananidzo.

Nekuongororwa uku kwemifananidzo, vanachiremba vanoongorora kana `sulci` (migero) ne`gyri` (mafold) ari pamusoro pehuropi hwemwana asiripo kana kuti akaderera, uye kana `cerebral cortex` (cerebral cortex) yakakora.

Ndezvipi zviedzo zvinoshandiswa kuongorora `Lissencephaly`?

Kana chiremba wako achifungidzira kuti une chirwere che lissencephaly, zvichibva panhoroondo yemhuri yako kana mhedzisiro ye ultrasound scan panguva yekuzvitakura, anogona kukurudzira bvunzo dzakasiyana-siyana panguva yekuzvitakura. Izvi zvinosanganisira:

• Kuongororwa kweDNA yemwana asati aberekwa pasina masero: Izvi zvinosanganisira kupatsanura DNA yemwana asati aberekwa neropa raamai. DNA iyi inozoongororwa murabhoritari kuti ione kana paine mukana wekuti pave nematambudziko echromosome.
• Amniocentesis: Iyi bvunzo inowanzoitwa mukati memwedzi mitatu yechipiri kana yechitatu yekuzvitakura. Muongororo iyi, chiremba anoshandisa tsono diki kubvisa mvura shoma yeamniotic kubva muamniotic sac yakakomberedza mwana. Muenzaniso uyu wemvura unozoedzwa murabhoritari. Amniocentesis inogona kuona mamiriro ejini uye shanduko dzinokonzera mamiriro akadai se lissencephaly.
• Kuongororwa kweChorionic villus (CVS): Muongororo iyi, chiremba anotora sampuro yenyama inonzi chorionic villi kubva muplacenta yako. Sampuro iyi inogona kutorwa kuburikidza nemuromo wechibereko (transcervical) kana kuburikidza nemadziro edumbu (transabdominal). Chorionic villi zvidimbu zvidiki zvakaita seminwe paplacenta. Zvine majini emwana. Iyi bvunzo yeCVS inogona kuona kana mwana aine chirwere chechromosome kana chimwe chirwere chemajini.

Vanachiremba vanoshandisa bvunzo dzemifananidzo dzakadai seizvi kuti vaongorore lissencephaly mushure mekuzvarwa kwemwana:

• Ultrasound yemusoro: Ultrasound ibvunzo yekufungidzira isingapindi mumuviri inoshandisa mafungu eruzha ane ruzha rwakanyanya kugadzira mifananidzo kana mavhidhiyo enhengo dzemukati, dzakadai seuropi.
• Kuongororwa kwemusoro nekombiyuta (CT scan):Kuongororwa kweCT inzira inoshandiswa pakombiyuta neX-rays kugadzira mifananidzo yakawanda yechikamu chemuviri chiri kuongororwa, muchiitiko ichi musoro nepfungwa zvemwana wako.
• Kuongororwa kweuropi kwemagnetic resonance imaging (MRI): Kuongororwa kweMRI inzira isingarwadzi iyo inoburitsa mifananidzo yakajeka yezvimiro nematishu ari muuropi hwemwana wako. MRI inoshandisa magineti makuru, mafungu eredhiyo, uye komputa kugadzira mifananidzo iyi yakadzama. Haishandisi X-rays.

Chiremba wenyu anogonawo kuraira bvunzo yeEEG (Electroencephalogram) yemwana wenyu. EEG inoyera uye inorekodha zviratidzo zvemagetsi muuropi hwemwana wenyu. Panguva yeEEG, nyanzvi inoisa maplate madiki esimbi (electrodes) pamusoro pemusoro wemwana wenyu. Maelectrode aya akabatanidzwa nemuchina unopa chiremba ruzivo nezvekushanda kweuropi hwemwana wenyu.

Kuti vasimbise kuongororwa kwechirwere ichi, vanachiremba vanoshandisa zvidzidzo zveDNA, zvakaita sekuongorora machromosome uye kuongorora majini chaiwo, kuti vaone shanduko yemajini inokonzera lissencephaly.

Lissencephaly inorapwa sei?

Kutaura zvazviri, parizvino hapana mushonga kana mushonga we lissencephaly. Pane kudaro, vanachiremba vanorapa zviratidzo zvemwana wega wega ane lissencephaly.

Kurapa uku kungada kushanda pamwe chete kwechikwata chenyanzvi dzakasiyana, kusanganisira:

• Vanachiremba vevana
• Vanachiremba vetsinga
• Nyanzvi dzezvekudya (nyanzvi dzezvekudya)
• Nyanzvi dzezvekudya
• Varapi vekufema
• Varapi vezvemabasa nemuviri

Vanhu vakadaro vanogona kubatanidzwa.

Kurapa kwakajairika:

• Nzira dzekurerutsira vana vane matambudziko ekudya kuti vawane zvinovaka muviri: semuenzaniso, kudya nepaburi kuenda mudumbu (`gastrostomy tube' - G-tube') uye/kana kurapa nekutaura nekumedza (`speech and metting therapy').
• Mishonga yekudzivirira pfari: Mishonga inopiwa kuderedza pfari.
• Kurapa kwemuviri nemabasa emuviri kubatsira mukukura kwesimba remuviri uye kusimbisa tsandanyama: Zvinhu zvakaita sekurovedza muviri kubatsira mukusimbisa muviri nekufamba.
• Kuisa ventriculoperitoneal (VP) shunt kudzora hydrocephalus: Kuvhiyiwa kudiki kuderedza kuungana kwemvura yakawandisa muuropi.

Kana mwana wako aine chirwere che lissencephaly, chiremba wako angangokurudzira kuti apiwe mazano ezvemajini.Zvinoreva.

Chii chinotarisirwa kumwana ane chirwere cheLissencephaly?

Maonero emwana ane lissencephaly anosiyana zvikuru zvichienderana nekuoma kwechirwere ichi uye kana chichibatanidzwa nemamwe matambudziko ehutano . Vana vazhinji vane lissencephaly vanogona kuramba vari padanho ravo rekutanga rekukura. Izvi zvinoreva kuti vangasakwanisa kuita zvinhu zvakawanda vega.

Zvisinei, vamwe vana vanogona kukura zvakanaka nekusiyana kudiki pakudzidza, saka musarasa tariro.

Kurapa kwekutanga, kunoenderera mberi kunogona kubatsira zvikuru kune vamwe vana. Kurapa uku kunosanganisira:

• Kurapa muviri
• Kurapa kwepabasa
• Kurapa kwekutaura
• Kurapa kwekuona

Zvinhu zvakaita seizvi zvinogona kuverengerwa.

Vana vazhinji vane lissencephaly vanofanira kutora mishonga zuva nezuva kudzivirira pfari uye kurapa mamwe matambudziko.

Mwana ane lissencephaly anotarisirwa kurarama kwenguva yakareba sei?

Avhareji yehupenyu hwemwana ane lissencephaly ipfupi. Vana vazhinji vanofa vasati vasvitsa makore gumi. Zvikonzero zvikuru zverufu pakati peavo vane lissencephaly i aspiration uye chirwere chekufema .

Chii chandinofanira kutarisira kana mwana wangu aine `Lissencephaly`? / Ndingatarisira sei mwana wangu?

Chinhu chakakosha kurangarira ndechekuti hapana vana vaviri vane lissencephaly vanobatwa nenzira imwechete. Hapana anogona kufanotaura kuti mwana wako achabatwa sei chaizvo. Chinhu chakanakisa chaunogona kuita kugadzirira remangwana ndechekutaura navanachiremba vane hunyanzvi mukutsvaga nekurapa lissencephaly.

Kuti ubatsire kutarisira mwana wako ane chirwere cheLissencephaly, tevera mirairo yachiremba nemazvo:

• Ipai mishonga yese sezvakarairwa.
• Ita ongororo dzebudiriro uye marapirwo nemazvo.
• Iva nechokwadi chekuenda kunoona chiremba wako nguva dzose.

Kurwara nepfungwa kunogona kukonzera matambudziko ekufunga, etsinga, uye/kana epfungwa. Vana vazhinji vane chirwere ichi vane kunonoka kukura uye vangada rubatsiro mumabasa ezuva nezuva muhupenyu hwavo hwese.

Chikwata chevanachiremba chemwana wako chinogona kupindura mibvunzo yako uye kukupa rutsigiro. Vanogonawo kukuudza nezveboka rekutsigirana riripo munharaunda yako kana online.

Lissencephaly inogona kudzivirirwa here?

Zvinosuwisa kuti nyaya zhinji dze lissencephaly hadzigone kudzivirirwa. Kana uchironga kuva nemwana,Taura nachiremba wako nezvekuongororwa kwemajini. Izvi zvichakubatsira kunzwisisa njodzi yekuti mwana wako ave nechirwere chemajini chakadai se lissencephaly kana chirwere chinogona kukonzerwa nekuchinja kwemajini kwakagara nhaka.

Ndinofanira kuona chiremba rini nezve `Lissencephaly`?

Kana mwana wako akaonekwa aine chirwere cheLissencephaly, anofanira kusangana nechikwata chake chekurapa nguva nenguva kuti vaone kana kurapwa kwake kuri kushanda nemazvo uye kuti kukura kwake kuri kufambira mberi sei.

Kunzwisisa chirwere cheLissencephaly chemwana wako kunogona kuva basa rakaoma. Chikwata chenyu chekurapa chichakupai hurongwa hwakasimba hwekurapa hunoenderana nezviratidzo zvemwana wenyu. Chinhu chinonyanya kukosha ndechekuva nechokwadi chekuti mwana wenyu anowana rudo nerutsigiro rwaanoda muhupenyu hwake hwese, uye kuziva chero zviratidzo zvitsva zvingamuka.

Ndeipi meseji yatinoda kutora kubva munyaya iyi?

Lissencephaly chirwere chisingawanzoitiki uye chakaoma chinoitika panguva yekukura kwehuropi hwemwana. Mumamiriro ezvinhu aya, makomba nemaburi akajairwa (gyri nesulci) muuropi haaumbike zvakanaka, zvichiita kuti chitarisiko "chinyatsonaka".

• Izvi zvinogona kukonzerwa nezvinhu zvemajini, pamwe chete, zvisingawanzoitiki, zvinhu zvisiri zvemajini .
• Zviratidzo zvinogona kusiyana zvikuru kubva pamwana kuenda kumwana. Pfari, kunonoka kukura, uye matambudziko ekudya zvakajairika.
• Kunyange hazvo pasina mushonga wakakwana weizvi, kune nzira dzakasiyana-siyana dzekurapa nekurapa kudzora zviratidzo uye kuvandudza hupenyu hwemwana .
• Chinhu chinonyanya kukosha ndechekuzviziva kubva pakutanga, kuita zvinoenderana nezano ravanachiremba, uye kupa mwana rudo nerutsigiro rwaanoda .
• Kana muine mimwe mibvunzo nezvenyaya iyi, musatya kutaura nachiremba wenyu. Zvinogonawo kubatsira zvikuru kubatana nemapoka ekutsigirana nevamwe vabereki vane vana vakaita seizvi uye kugovana ruzivo.

Yeuka kuti hausi wega. Kune vanachiremba, varapi, nevamwe vazhinji vanogona kukubatsira parwendo urwu.

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Kusagadzikana kwepfungwa , uropi hwakapfava, zvikanganiso zveuropi, kukura kwemwana asati aberekwa, kushanduka kwemajini, kunonoka kukura, pfari