Lissencephaly ndi chizoloŵezi chodziwika bwino cha mitsempha yomwe nthawi zambiri imabweretsa kuchedwa kwakukulu kwa chitukuko ndi zovuta kuchepetsa kugwidwa. Ndicho chikhalidwe chomwe chimachokera ku kusayenerera kwamasuntha a mitsempha pa nthawi ya kukula kwa mwana.
Mawu akuti lissencephaly amachokera ku mawu awiri achigriki: lissos , kutanthauza "yofewa," ndi enkaphalos , kutanthauza "ubongo." Mukayang'ana ubongo wamba, imvi (ubongo) ili ndi mapiri ndi zigwa pamwamba pake.
Mu lissencephaly, ubongo uli pafupi kwambiri. Kukula kosawonongeka kwa ubongo kumachitika pa nthawi ya mimba, ndipo kumatha kuwonedwa pa intrauterine MRI pamasabata 20 mpaka 24 kugonana.
Lissencephaly amatha kukhala yekha kapena mbali ya mikhalidwe monga Miller-Dieker matenda, matenda a Norman-Roberts, kapena matenda a Walker-Warburg. Matendawa amawoneka kuti ndi achilendo koma osawoneka, omwe amapezeka pafupifupi ana 100,000. (Matenda osadziwika amatanthauzira ngati omwe akupezeka osachepera mmodzi mwa anthu 200,000).
Zimayambitsa
Pali zifukwa zingapo zomwe zimayambitsa lissencephaly. Chifukwa chofala kwambiri ndi kusintha kwa chibadwa mumtundu wa X-chromosome womwe umadziwika kuti DCX. Jini imeneyi imakhala ndi mapuloteni otchedwa doublecortin omwe amachititsa kuyenda (maselo) a mitsempha (neurons) mu ubongo panthawi ya kukula kwa mwana. Zina za mitundu iwiri zakhala zikuphatikizidwanso m'mayendedwe.
Kuvulala kwa mwana wosabadwa chifukwa cha matenda a tizilombo kapena kuthamanga kwa magazi kwa ubongo ndi zina zomwe zingayambitse. "Kuwonongeka" akuganiza kuti kumachitika pamene mwana wakhanda ali pakati pa masabata khumi ndi awiri ndi khumi ndi asanu ndi awiri (14) kapena masabata asanu ndi awiri (14).
Zizindikiro
Pali zizindikiro zosiyanasiyana zomwe zingachitike mwa anthu omwe ali ndi lissencepahly.
Ana ena ali ndi zochepa ngati zizindikirozi ndi ena amakhala nazo zambiri. Kuwopsa kwa zizindikiro zingasinthe mosiyana. Zizindikiro zotheka za lissencephaly ndizo:
- Kusalephera kulemera: Kusamera bwino ndi vuto lomwe nthawi zambiri limawoneka mwa ana obadwa kumene kukula sikukuchitika monga momwe kuyembekezera. Ikhoza kukhala ndi zifukwa zambiri.
- Kuwonongeka kwaumunthu: Nzeru imatha kuchoka kufupi ndi kuwonongeka kwakukulu.
- Matenda a chiwopsezo: Matenda a chiwopsezo amapezeka pafupifupi 80 peresenti ya ana omwe ali ndi vutoli.
- Kuvuta kudya ndi kudya.
- Zovuta kulamulira minofu yake ( ataxia ).
- Poyamba kunachepetsanso mitsempha yamtundu (hypotonia) yotsatiridwa ndi kuuma kapena kusasunthika kwa manja ndi miyendo.
- Maonekedwe achilendo osadabwitsa ndi nsagwada yaing'ono, pamphumi lapamwamba, ndi kutsekedwa kwa akachisi. Zovuta kuzimva m'makutu ndi kutseguka kwa mitsempha kumatchulidwanso.
- Zovuta za zala ndi zala, kuphatikizapo zowerengeka (polydactyly).
- Kuchedwa kwachangu komwe kumatha kukhala wofatsa mpaka wovuta.
- Mpweya wochepa kwambiri wa mutu (microcephaly).
Kudziwa
Kupezeka kwa lissencephaly sikungapangidwe mpaka mwana ali ndi miyezi ingapo, ndipo ana ambiri omwe ali ndi vutoli amawoneka athanzi pa nthawi yobereka. Makolo kawirikawiri amadziwa kuti mwana wawo sakukula pafupipafupi pafupi ndi miyezi 2 mpaka 6.
Chizindikiro choyamba chingakhale chiyambi cha kugunda, kuphatikizapo mtundu wovuta wotchedwa "infantile spasms." Zingakhale zovuta kuti matendawa agwire ntchito.
Ngati lissencephaly akukayikira pogwiritsa ntchito zizindikiro za mwanayo, ultrasound, imaging magnetic resonance (MRI) , kapena computed tomography (CT scan) ingagwiritsidwe ntchito kuyang'ana ubongo ndikutsimikizira kuti akudwala.
Chithandizo
Palibe njira yothetsera zotsatira za lissencephaly kapena kuchiza matenda, koma pali zambiri zomwe zingatheke kuti pakhale moyo wabwino kwa mwanayo. Cholinga cha chithandizo ndi kuthandiza mwana aliyense ali ndi lissencephaly kufika pazomwe angakwanitse.
Njira zothandizira zomwe zingakhale zothandiza zikuphatikizapo:
- Mankhwala othandizira kusintha maulendo osiyanasiyana ndikuthandizira ndi mapulogalamu opsinjika.
- Thandizo la ntchito.
- Kudzetsa chitetezo ndi anticonvulsants.
- Kusamalira chithandizo chamankhwala, kuphatikizapo chisamaliro chosamalitsa (monga matenda opuma ndi omwe amachititsa anthu kufa).
- Kudyetsa thandizo. Ana omwe akuvutika ndi kumeza angadye chubu chodyetsa choikidwa.
- Ngati mwana akupanga hydrocephalus ("madzi pa ubongo"), shunt ingafunikire kuikidwa,
Kuthamangitsani
Chizindikiro cha ana omwe ali ndi lissencephaly chimadalira kukula kwa ubongo. Ana ena akhoza kukhala ndi chitukuko chodziwika bwino komanso nzeru, ngakhale kuti izi ndizosiyana.
N'zomvetsa chisoni kuti nthawi yokhala ndi moyo kwa ana omwe ali ndi lissencephaly ali pafupi zaka 10 zokha. Chifukwa cha imfa kawirikawiri zimakhumba (kudya) chakudya kapena madzi, matenda opuma, kapena kufooka kwakukulu ( chikhalidwe cha khunyu ). Ana ena adzapulumuka koma sadzawonetsa chitukuko chachikulu, ndipo ana akhoza kukhala pamlingo womwe uli wamba kwa miyezi 3 mpaka 5.
Chifukwa cha zotsatira izi, ndikofunikira kupeza maganizo a akatswiri mu lissencephaly ndi kuthandizidwa kuchokera ku magulu a banja ndi kugwirizana kwa akatswiri awa.
Kafukufuku
Bungwe la National Institute of Neurological Disorders ndi Stroke limaphunzitsa ndikuthandizira maphunziro osiyanasiyana omwe amafufuza zovuta zowonjezera ubongo, kuphatikizapo neuronal. Kafukufuku waposachedwapa apeza majeremusi omwe ali ndi udindo wa lissencephaly. Zomwe amapeza kuchokera ku maphunzirowa zimapanga maziko a chithandizo cha mankhwala ndi njira zothandizira matenda a neuronal.
Mawu Ochokera
Ngati mwana wanu atapezeka kuti ali ndi lissencephaly, kapena ngati dokotala wa mwana wanu akuganizira za matendawa, mwina mukuwopa. Kodi izi zikutanthauzanji lero? Kodi izi zikutanthauzanji sabata kuchokera pano? Kodi izi zikutanthawuza chiyani zaka 5 kapena 25 zaka pansi pa msewu?
Kupatula nthawi yophunzira za matenda a mwana wanu (kaya mwapeza kapena mukungoganiziridwa) sikungachepetse nkhawa zanu zonse, koma zidzakuikani mu mpando wa dalaivala. Ndi mtundu uliwonse wa chithandizo chamankhwala mwa ife eni kapena ana athu, kukhala nawo mbali mwakhama mu chisamaliro ndikofunikira.
Kusonkhanitsa dongosolo lanu lothandizira ndilofunikanso. Kuphatikiza apo, ndizothandiza kwambiri kugwirizana ndi makolo ena omwe ali ndi ana omwe ali ndi lissencephaly. Ziribe kanthu momwe amachitira achikondi kapena othandiza abwenzi anu ndi abambo anu, pali chinachake chapadera choyankhula ndi ena omwe anakumana ndi mavuto omwewo. Mapulogalamu othandizira makolo amaperekanso mwayi wophunzira zomwe zasayansi amanena posachedwapa.
Monga kholo, ndizofunika kuti muzisamalira nokha. Zomwe mukuganiza zingakhale ponseponse ndipo ziyenera kuchitika. Mwina mungadzipweteke mukamawona makolo ena ali ndi ana wathanzi ndikudabwa chifukwa chake moyo ungakhale wopanda chilungamo. Yesetsani kwa omwe angakupatseni chithandizo chopanda chilolezo ndikukulolani kugawa zomwe mukukumva panthawi ino.
> Zotsatira:
> National Institute of Neurological Disorders ndi Stroke. Lissencephaly Information Page. https://www.ninds.nih.gov/Disorders/All-Disorders/Lissencephaly-Information-Page
> Shahsavani, M., Pronk, R., Falk, R. et al. Chitsanzo cha Lissencephaly mu Vitro: Kuwonjezera udindo wa DCX Pa Neurogenesis. Molecular Psychiatry . 2017 Sep 19. (Epub patsogolo pa kusindikiza).
> Williams, F., ndi P. Griffiths. Mu Fetasi Imaging in Fetuses pa Risk High ya Lissencephaly. British Journal of Radiology . 2017. 90 (1072): 20160902.