I-Lissencephaly yinto engaqhelekanga ye-neurological condition edla ngokubangela ukulibaziseka okuphuculweyo kwaye kunzima ukulawula ukutshatyalaliswa. Yimimiselo ephumela ekuhambeni kweempawu zeentsimbi zesisiphako ngexesha lokukhula komntwana.
Igama elithi lissencephaly livela kumazwi amabini aseGrisi: lissos , okuthetha " ukukhawuleza " kunye ne- enkaphalos , okuthetha "ubuchopho." Ukuba ukhangele ingqondo eqhelekileyo, umbandela (i-cerebrum) inemigodi nemigodi ebusweni.
Ngokwe-lissencephaly, ubuchopho bungaphezulu. Uphuhliso olungavumelekanga lwengqondo luvela ngexesha lokukhulelwa, kwaye ngokwenene luyakubonakala kwi-MRI ye-intrauterine ngamaxesha angama-20 ukuya kuma-24.
I-Lissencephaly ingenzeka yedwa okanye njengenxalenye yeemeko ezinjengeMiller-Dieker syndrome, i-Norman-Roberts syndrome, okanye i-Walker-Warburg syndrome. Le meko ibhekwa njengento engaqhelekanga kodwa ayinqabile, eyenzeka kwintsana eyodwa kwi-100,000. (Isifo esinqabileyo sichazwa njengento enye eyenziwa ngabantu abangaphantsi kweyabantu abangama-200,000).
Izizathu
Zininzi izizathu ezinokubangela ukuba lissencephaly. Isizathu esona siqhelo kukuguqulwa kofuzo kwi-X-chromosome gene edibeneyo eyaziwa ngokuthi yi-DCX. Le mfuzo ikhowudi yeprotheni ebizwa ngokuthi i-doublecortin enoxanduva lokuhamba (ukufuduka) kweeseli zamathambo (neurons) kwingqondo ngexesha lokukhula komntwana. Ezinye iizakhi ezimbini zegesi nazo zibandakanyeke kwi-causation.
Ukulimala kumntwana ngenxa yokusuleleka kwintsholongwane okanye ukungapheli kwegazi kwi-ingqondo kukho izizathu ezongezelelweyo. "Umonakalo" kucatshangelwa ukuba kwenzeke xa umntwana ephakathi kweeveki ezili-12 neye-14, ukuphela kwekota yokuqala okanye kwi-trimester yokuqala.
Iimpawu
Kukho uluhlu olubanzi lweempawu ezingenzeka kubantu abaxilongwa nge-lissencepahly.
Abanye abantwana banabantu abambalwa ukuba kukho nale mpawu kunye nabanye banokuba baninzi. Ubunzima beempawu ziyahlukahluka ngokubanzi. Izimpawu ezinokuthi zithembeke ziquka:
- Ukungaphumeleli ukukhula: Ukungaphumeleli ukuphumelela yimeko esoloko ibonakala kwiintsana ezisakhulayo apho ukukhula kungenzeki njengoko kulindeleke. Inokubangela ezininzi.
- Ukuphazamiseka kwengqondo: Ubulumko bungabakho ukususela kwinto eqhelekileyo ukuya kwiimpazamo ezinzulu.
- Ingxaki yokuthungatha: Ingxaki yokubamba ingozi iyenzeka malunga neepesenti ezingama-80 zabantwana abanemeko.
- Unzima ukugwinya nokutya.
- Ubunzima bokulawula imisipha yakhe ( ataxia ).
- Ekuqaleni unciphise itoni ye-muscle (hypotonia) ilandelwa ukuqina okanye ukunyaniseka kwezandla kunye nemilenze.
- Ubuso obungavamile obungabonakaliyo ngomhlathi omncinci, ebunzini eliphezulu, kunye nokufakwa kwetempile. Ukungaqhelekanga kweendlebe kunye nokuvuleka kwimizimba yomzimba kungaqatshelwa.
- Ukungaqhelekanga kweminwe neenzwane, kubandakanywa amadijithi angaphezulu (i-polydactyly).
- Ukulibaziseka okuphuculwayo okunokuvela kwi-mild to severe.
- Ubuncinci ngaphezu kwentloko yentloko (microcephaly).
Ukuxilongwa
Ukuxilongwa kwe-lissencephaly ayisoloko yenziwa kuze kube yinkwenkwezi encinane ubudala, kwaye abantwana abaninzi abanemeko babonakala bephilile ngexesha lokunikezelwa. Abazali baqaphela ukuba umntwana wabo akaphuhlanga kwisantya esiqhelekileyo malunga neenyanga ezi-2 ukuya kwezi-6.
Isibonakaliso sokuqala sinokuqala kokubanjelwa, kubandakanywa uhlobo olubi olubizwa ngokuthi "iindawo ezincinci." Kungaba nzima ukufumana ukuxhatshazwa phantsi kolawulo.
Ukuba i-lissencephaly ikhankanywa ngokusekelwe kwiimpawu zomntwana, i-ultrasound, i-imaging magnontic resonance (MRI) , okanye i-tomography ecatshulwayo (CT scan) ingasetyenziselwa ukujonga ubuchopho kwaye iqinisekise ukuxilongwa.
Unyango
Ayikho indlela yokuguqula ngokuthe ngqo imiphumo ye-lissencephaly okanye yokuphilisa imeko, kodwa kukho into enokuyenza ukuze kuqinisekiswe umgangatho wobomi bomntwana. Injongo yokonyango kukunceda wonke umntwana enomdla we-lissencephaly afinyelele kwizinga lakhe lokuphuhlisa.
Iimodalities zonyango ezinokukunceda zibandakanya:
- Ulwaphulo lwangokwenyama ukuphucula uluhlu lwezityalo kunye nokuncedisa ngezivumelwano zomzimba.
- Unyango.
- Ukulawulwa kobutyebi kunye ne-anticonvulsants.
- Unonophelo lwengonyango olukhuselekileyo, kuquka nokunyamekela ukunyamekela (njengokuba iingxaki zokuphefumula ziyimbangela eqhelekileyo yokufa).
- Ukuncedisa uncedo. Abantwana abanenkinga yokugwinya bangadinga ityhulo yokutya.
- Ukuba umntwana uvelisa i-hydrocephalus ("amanzi kwindawo yengqondo"), i- shunt ingadinga ukufakwa,
Prognosis
Ukugxekwa kwabantwana abane-lissencephaly kuxhomekeke kwinqanaba leengqondo. Abanye abantwana banokuba nophuhliso oluqhelekileyo kunye nobunzima, nangona oku kubakho okuhlukile.
Ngokudabukisayo, ithuba lokuphila lobomi kubantwana abanesifo esinzima kakhulu kulu-10 kuphela. Isizathu sokufa sisoloko sifisa (ukuphazamiseka) kokutya okanye umbane, isifo sokuphefumula, okanye ukutshatyalaliswa okunzima ( isimo se-epilepticus ). Abanye abantwana baya kuphila kodwa bangabonakali uphuhliso olubalulekileyo, kwaye abantwana banokuhlala kwinqanaba eliqhelekileyo kwiinyanga ezi-3 ukuya kwezi-5 ubudala.
Ngenxa yale nkalo kwiziphumo, kubalulekile ukufuna uluvo lweengcali kwi-lissencephaly kunye nenkxaso evela kumaqela entsapho enxulumene nale ngcali.
Uphando
I-National Institute of Neurological Disorders and Stroke iqhuba kwaye isekela uluhlu olubanzi lwezifundo ezihlola iinkqubo eziyinkimbinkimbi zokuphuhliswa kwengqondo, kuquka ukufuduka kwe-neuronal. Uphando olutshanje luye lwafumanisa izakhi zofuzo ezijongene ne-lissencephaly. Ulwazi olufunyenwe kulezi zifundo lubonelela isiseko sokuphuhlisa unyango kunye namanyathelo okuthintela ukuphazamiseka kwe-neuronal migration.
ILizwi
Ukuba umntwana wakho ufunyanwe ukuba une-lissencephaly, okanye ukuba ugqirha wengane yakho ucinga ukuxilongwa, mhlawumbi uyavalo. Kuthetha ukuthini oku namhlanje? Yintoni oku kuthetha ntoni iveki ukususela ngoku? Kuthetha ukuthini oku ku-5 okanye iminyaka engama-25 phantsi kwendlela?
Ukuchitha ixesha elithile ngokufunda ngengxaki yengxaki yomntwana (nokuba ufunyenwe okanye ukuqwalaselwa nje) akunakunciphisa zonke iingxaki zakho, kodwa kunokukubeka kwisihlalo somqhubi. Naluphi na uhlobo lwemo yezokwelapha ngaphakathi kwethu okanye kubantwana bethu, ukuba uthatha inxaxheba ekukhuselweni kubalulekile.
Ukuqokelela inkqubo yakho yokuxhasa kubalulekile. Ukongezelela, kunceda kakhulu ukudibanisa nabanye abazali abanabantwana abanomdla. Kungakhathaliseki ukuba lunothando okanye lunceda njani abahlobo bakho kunye nosapho, kukho into ekhethekileyo ngokuthetha nabanye abajamelane nemingeni efanayo. IiNethwekhi zokuxhasa abazali zinika ithuba lokufunda oko kutsho kutshanje uphando.
Njengomzali, kubalulekile ukuzinyamekela. Imvakalelo yakho mhlawumbi iya kuba phezu kwebhodi kwaye kuya kulindelwa. Unokuzilimaza xa ubona abanye abazali abanezingane eziphilileyo kwaye uzibuza ukuba kutheni ubomi bube bubi kangaka. Finyelela kulabo abanokukunika inkxaso engenammiselo kwaye bakuvumele ukuba uhlanganyele oko uvakalelwa ngokwenene ngeli xesha.
> Imithombo:
> ISikole kaZwelonke seNational and Disorders and Stroke. Ulwazi lweLissencephaly Page. https://www.ninds.nih.gov/Disorders/All-Disorders/Lissencephaly-Information-Page
> Shahsavani, M., Pronk, R., Falk, R. et al. I-In Vitro Model yeLissencephaly: Ukwandisa indima ye-DCX Ngethuba le-Neurogenesis. I-Molecular Psychiatry . 2017 Septemba 19. (Epub ngaphambi kokuprinta).
> Williams, F., kunye noP. Griffiths. Kwi-Utero MR Ukufanekisa kwi-Fetuses kwi-Risk High ye-Lissencephaly. IBritish Journal of Radiology . 2017. 90 (1072): 20160902.