Lissencephaly inowanzosangana neurological condition iyo inowanzokonzera kukura kwakanyanya kunonoka uye kunonetsa kudzora kukanganisa. Iyo mamiriro ezvinhu anokonzerwa nekusakwanisa kutama kwemasero emusana panguva yekukura kwekuberekwa.
Izwi lissencephaly rinobva pamashoko maviri echiGiriki: lissos , zvinoreva "kufara," uye enkaphalos , zvinoreva "uropi." Kana iwe ukatarisa uropi huripo, ganda rakasviba (kubata) rine magomo nemipata mukati mazvo.
Mu lissencephaly, uropi hwepamusoro hunenge hwakanyatsonaka. Uku kukura kusina kuitika kwouropi kunoitika panguva yekuzvitakura, uye kunogona kuonekwa muInterrauterine MRI nemavhiki makumi maviri nemakumi maviri nemakumi maviri ekuberekwa.
Lissencephaly inogona kuitika yoga kana sechikamu chemamiriro ezvinhu akadai saMiller-Dieker syndrome, Norman-Roberts syndrome, kana Walker-Warburg syndrome. Mamiriro acho anonzi akajairika asi asingawanzoitiki, anowanzoita nevana vanenge 100 000 vacheche. (Chirwere chisinganzwisisi chinotsanangurwa sechimwe chinowanikwa mune zvishomanana kune rimwe mu 200,000 vanhu).
Zvinokonzera
Pane zvikonzero zvakakonzera zvinokonzera lissencephaly. Chikonzero chinonyanya kukosha chinonzi genetic mutation mune X-chromosome inoshandiswa gene inonzi DCX. Iyi geni inoshandisa puroteni inonzi doublecortin iyo inokonzera kufamba (kutama) kwemasero emasero (neurons) muuropi panguva yekukura kwekuberekwa. Mamwe maviri ejeni akave akabatanidzwa mukati mechikonzero.
Kukuvadza kumucheche nekuda kwehutachiona hwehutachiwana kana kusakwana kwekuyerera kweropa kuuropi zvimwe zvinokonzera zvinokonzera. Iyo "kukanganisa" inofungidzirwa kuti inoitika apo fetus iri pakati pemasvondo gumi nemaviri nemasere gumi nemana, kusvika munguva yekutanga yechitatu kana kuti yekutanga yechipiri.
Zviratidzo
Kune zviratidzo zvakasiyana-siyana zvinogona kuitika kune vanhu vanoongororwa ne lissencepahly.
Vamwe vana vane zvishoma kana chimwe chezviratidzo izvi uye vamwe vanogona kuva nezvizhinji. Kuoma kwezviratidzo kunogonawo kusiyanisa zvakanyanya. Zviratidzo zvinogona kuitika zve lissencephaly dzinosanganisira:
- Kukundikana kubudirira: Kusakundikana kubudirira ndizvo zvinowanzowanikwa mumazvizvarwa zvitsva umo kukura hakuiti sezvinotarisirwa. Inogona kuva nezvikonzero zvakawanda.
- Kukanganisa kwepfungwa: Uchenjeri hunogona kubva kubva pedyo nekusingaperi kusvika kune hutachiona hwakakomba.
- Chirwere chekutsvaga: Chirwere chekutsvaira chinowanikwa mumapfumbamwe makumi mapfumbamwe nezana evana vane chirwere.
- Dambudziko rokuedza uye kudya.
- Dambudziko rokudzora mishonga yake ( ataxia ).
- Pakutanga kuderedzwa mushutu toni (hypotonia) yakateverwa nekuoma kana kuparadzaniswa kwemaoko nemakumbo.
- Chimiro chechimiro chisina kujairika nejaya duku, huma refu, uye indentation yematemberi. Kusakanganiswa kwe nzeve uye kuputika kwemazhenje emvura kunogona kuonekwa zvakare.
- Kusakanganiswa kweminwe nezvigunwe, zvichisanganisira kuwedzera mazita (polydactyly).
- Kuwedzeresa kunonoka kunogona kubva kubva kune unyoro kusvika kune yakaoma.
- Chinhu chiduku kudarika mutema wepamusoro (size microcephaly).
Kuziva
Kuongororwa kwe lissencephaly hakuwanzogadziriswa kusvikira mwana ava nemwedzi mishomanana, uye vana vakawanda vane chirwere chacho vanoita kunge vane utano panguva yekusununguka. Vabereki vanowanzocherechedza kuti mwana wavo haasi kukura pamwero wakagadzikana wakakomba wemakore maviri kusvika kumwedzi matanhatu.
Chiratidzo chekutanga chinogona kunge chiri kutanga kwekugumburwa, kusanganisira chirwere chakanyanya kunzi se "infantile spasms." Izvo zvinogona kuva zvakaoma kuwana kugumburwa kunotungamirirwa.
Kana lissencephaly ichifungidzirwa zvichibva pamararamiro emwana, ultrasound, magnetic resonance imaging (MRI) , kana kuti computed tomography (CT scan) inogona kushandiswa kutarisa uropi uye kusimbisa kuongororwa.
Kurapa
Hapana nzira yekutsanangurira zvakananga migumisiro ye lissencephaly kana kuporesa mamiriro acho, asi pane zvakawanda zvingaitwa kuti zvive nechokwadi chehutano hwakanaka hwehupenyu hwemwana. Chinangwa chekurapa ndechekubatsira mwana wese neine lissencephaly kusvika pane zvaanogona pakukwanisa.
Kurapa nzira dzinogona kubatsira dzinosanganisira:
- Kurapa kwepanyama kunatsiridza mararamiro ekufambisa uye kubatsira nemisungo michipatimendi.
- Occupational therapy.
- Seizure control ne anticonvulsants.
- Kuchengetedza kwehutano hwekudzivirira, kusanganisira kunyatsochengetedza kuporesa (sezvo kuporesa kunokonzerwa nechinowanzokonzera rufu).
- Kudya rubatsiro. Vana vane dambudziko nekumedza vangada bhadha yekuisa yakaiswa.
- Kana mwana akawedzera hydrocephalus ("mvura muuropi"), shunt ingada kuiswa,
Prognosis
Kufananidzira kwevana vane lissencephaly kunobva pauwandu hwehuropi hutsika. Vamwe vana vanogona kunge vava pedyo nekugadzirwa kwechigarire uye kuchenjera, kunyange izvi zvinowanzosiyana.
Zvinosuruvarisa, chiyero chekurarama kwevana kune vane rurefu runyararo kune makore gumi chete. Chikonzero chekufa kazhinji chinoshuva (inhaling) chezvokudya kana mvura, zvirwere zvokuputika, kana kuparara kwakanyanya ( chiremera epilepticus ). Vamwe vana vachapona asi havangaratidzi hukuru hunobudirira, uye vana vanogona kuramba vari pamwero unowanzogara wemwedzi 3 kusvika ku5 wemwedzi.
Nokuda kweizvi hukuru mumigumisiro, zvakakosha kutsvaga maonero evanochengeti mu lissencephaly uye kutsigirwa kubva kumapoka emhuri nekubatana kune vanyori ava.
Kutsvakurudza
Sangano reNational Institute of Neurological Disorders uye Stroke rinotungamirira uye rinotsigira zvakasiyana-siyana zvidzidzo zvinotsvaga maitiro akaoma ehutano hunobudirira, kusanganisira neuronal kubuda. Zvidzidzo zvenguva pfupi zvakaona maitiro ezvakagadzirisa lissencephaly. Ivo ruzivo rwakawanikwa kubva kune zvidzidzo izvi rinopa nheyo dzekugadzira kurapwa uye maitiro ekudzivirira kwehutano hwehutachiona hwekubuda.
Shoko Rinobva
Kana mwana wako akawanikwa ane lissencephaly, kana kuti chiremba wemwana wako ari kufunga nezvekuongororwa, iwe unogona kunge uchitya. Izvi zvinorevei nhasi? Izvi zvinorevei vhiki kubva zvino? Izvi zvinorevei makore mashanu kana makore makumi maviri pasi pemugwagwa?
Kushandisa nguva yekudzidza nezvehutano hwemwana wako (kana hunoonekwa kana kuti kungofungidzirwa) haugone kuderedza zvose zvekuzvidya mwoyo kwako, asi kunokuisa muchigaro chekutyaira. Nechinangwa chipi nechipi chekurapa mukati medu kana isu vana vedu, kuva mubatanidzwa wekushingaira mukutarisira kunokosha.
Kuunganidza sangano rako rutsigiro kunokosha zvakare. Mukuwedzera, zvinobatsira zvikuru kubatana nevamwe vabereki vane vana vane lissencephaly. Pasinei nokuti rudo kana kubatsira sei shamwari neshamwari yako, pane chimwe chinhu chakakosha pamusoro pekutaura kune vamwe vakatarisana nematambudziko akadai. Kutsigirwa mitambo yevabereki inopawo mukana wekudzidza izvo zvitsva zvinotsvaga zvichiti.
Somubereki, zvakakosha kuzvitarisira iwe pachako. Manzwiro ako angangove ari pasi rose uye iyo inotarisirwa. Unogona kuzviona uchikuvadza paunoona vamwe vabereki vane vana vane utano uye vakashamisika kuti sei upenyu hungave hwakashata zvakadaro. Iva nehanya kune avo vanogona kukupa rubatsiro rusina mubvunzo uye kukubvumira kuti ugove zvauri kunyatsonzwa panguva ino.
> Sources:
> National Institute of Neurological Disorders uye Stroke. Lissencephaly Information Page. https://www.ninds.nih.gov/Disorders/All-Disorders/Lissencephaly-Information-Page
> Shahsavani, M., Pronk, R., Falk, R. et al. An In Vitro Model of Lissencephaly: Kuwedzera Basa reDDCX PaNeurogenesis. Molecular Psychiatry . 2017 Sep 19. (Epub mberi kwekudhinda).
> Williams, F., naP. Griffiths. MuUtero MR Kufananidza mu Fetus at High Risk yeLissencephaly. British Journal yeRadiology . 2017. 90 (1072): 20160902.