I-Lissencephaly yisimo esingavamile sezinzwa ezivame ukubangela ukulibaziseka okuthuthukayo okukhulu futhi kunzima ukulawula ukuwayeka. Isimo esibangelwa ukuthutha okungenalutho kwamangqamuzana omzimba ngesikhathi sokuthuthukiswa komntwana.
Igama lissencephaly livela emazwini amabili esiGreki: lissos , okusho ukuthi "bushelelezi" kanye ne- enkaphalos , okusho "ubuchopho." Uma ubheka ubuchopho obuvamile, udaba olumpunga (u-cerebrum) lunemigodi nemigodi ebusweni bayo.
Ngo-lissencephaly, ubuchopho bubukeka busheleleke ngokuphelele. Lokhu kuthuthuka okungavamile kobuchopho kwenzeka ngesikhathi sokukhulelwa, kanti empeleni kungabonakala ku-MRI ye-intrauterine ngamaviki angama-20 kuya kwangu-24 ukubeletha.
I-Lissencephaly ingenzeka yedwa noma njengengxenye yezimo ezifana ne-Miller-Dieker syndrome, i-Norman-Roberts syndrome, noma i-Walker-Warburg syndrome. Lesi simo sibonakala singavamile kodwa singavamile, senzeke cishe ezinganeni eziyi-100 000 kuphela. (Isifo esingavamile sichazwa ngokuthi sinye esisodwa singaphansi kwesisodwa kubantu abangu-200,000).
Izimbangela
Kunezimbangela eziningana ezikhona ze-lissencephaly. Isizathu esivame kakhulu ukushintshashintsha kwezakhi zofuzo ku-X-chromosome i-gene eyaziwa ngokuthi i-DCX. Leli gciwane lithembisa amaprotheni okuthiwa i-doublecortin enesibopho sokuhamba (ukufuduka) kwamangqamuzana ayisisindo (neurons) ebuchosheni phakathi nokuthuthukiswa komntwana. Ezinye izakhi zofuzo ezimbili nazo zithintekile ekucabangeni.
Ukulimala emntwaneni ngenxa yokutheleleka ngegciwane noma ukugeleza kwegazi okwanele ebuchosheni kungenxa yezimbangela ezingeziwe. "Umonakalo" ucatshangwa ukuthi uvele lapho ingane iphakathi kwamasonto angu-12 no-14 ukukhulelwa, kungakhathaliseki ukuthi sekuphelile ku-trimester yokuqala noma ekuqaleni kwe-trimester yesibili.
Izimpawu
Kunezinhlobo eziningi zezimpawu ezingase zenzeke kubantu abathintekayo abane-lissencepahly.
Ezinye izingane zincane uma ngabe ezinye zalezi zimpawu nezinye zingaba neziningi. Ubukhulu bezimpawu nakho buhlukahluka kakhulu. Izimpawu ezinokwenzeka ze-lissencephaly zihlanganisa:
- Ukuhluleka ukuphumelela: Ukungaphumeleli ukukhula kuyisimo esivame ukubonwa ezinganeni ezisanda kubalwa lapho ukukhula kungenzeki njengoba kulindeleke. Kungaba nezimbangela eziningi.
- Ukukhubazeka kwengqondo: I-Intelligence ingahluka kusukela esivamile kuya kokukhubazeka okukhulu.
- Isiyaluyalu sokuqothulwa: Isiyaluyalu sokuthungatha senzeke ezingxenyeni ezingamaphesenti angu-80 zezingane ezinesimo.
- Kunzima ukugwinya nokudla.
- Kunzima ukulawula imisipha yakhe ( ataxia ).
- Ekuqaleni yanciphisa ithoni ye-muscle (hypotonia) elandelwa ukuqina noma ukugxila kwezandla nemilenze.
- Ukubukeka okungavamile kobuso bomzimba ngomhlathi omncane, ikhanda eliphakeme, nokufakwa kwethempeli. Ukungahleleki kwezindlebe kanye nokuvuleka kwemisipha kubuye kuphawulwe.
- Ukungahleleki kweminwe nezinzwane, kufaka phakathi amadijithi engeziwe (polydactyly).
- Ukulibaziseka okuthuthukayo okungahle kube ngobumnene kuze kube nzima.
- Isilinganiso esincane kunazo zonke zesihloko (microcephaly).
Ukuxilongwa
Ukuxilongwa kwe-lissencephaly akuvame ukwenziwa kuze kube yilapho ingane ineminyaka embalwa ubudala, futhi izingane eziningi ezinezimo zibonakala ziphilile ngesikhathi sokubeletha. Abazali bavame ukuqaphela ukuthi ingane yabo ayihlakuli ngesilinganiso esivamile esiphakathi kwezinyanga ezimbili kuya kwezingu-6.
Isibonakaliso sokuqala singase kube ukuqala kokugubha, okubandakanya uhlobo olubi oluthiwa "ama-spasms spasms." Kungaba nzima ukuthola ukulawulwa kokulawulwa.
Uma kungenzeka ukuthi i-lissencephaly isekelwe ezimpawu zomntwana, i-ultrasound, i-imaging yamacontic resonance (MRI) , noma i-computed tomography (CT scan) ingasetshenziswa ukubuka ubuchopho futhi iqinisekise ukuxilongwa.
Ukwelapha
Ayikho indlela yokuguqula ngokuqondile imiphumela ye-lissencephaly noma yokwelapha isimo, kodwa kuningi okungenziwa ukuze kuqinisekiswe izinga eliphezulu lokuphila kwengane. Umgomo wokwelapha ukusiza wonke ingane enenhlanhla ekufinyeleleni izinga lakhe lokuthuthukiswa.
Izindlela zokwelashwa ezingaba usizo zifaka:
- Ukwelashwa ngokomzimba ukuthuthukisa ukuhamba okuhambayo nokusiza ngezivumelwano zomzimba.
- Ukwelapha emsebenzini.
- Ukulawula i-seizure nge-anticonvulsants.
- Ukunakekelwa kwezokwelapha okuvimbela, kuhlanganise nokunakekelwa ngokucophelela kokuphefumula (njengoba izinkinga zokuphefumula ziyimbangela evamile yokufa).
- Ukondla usizo. Izingane ezinenkinga yokugwinya zingadinga ithuluzi lokudla elibekiwe.
- Uma ingane iqala i-hydrocephalus ("amanzi ebuchosheni"), i- shunt ingadinga ukufakwa,
Isibikezelo
Isibikezelo sezingane ezine-lissencephaly sincike ekungenikeni kobuchopho. Ezinye izingane zingase zibe nokuthuthukiswa okujwayelekile-nokuhlakanipha, nakuba lokhu kuvame ukuhlukile.
Ngokudabukisayo, isikhathi sokuphila esiphezulu sabantwana abane-lissencephaly esinzima kuphela eminyakeni engaba ngu-10 kuphela. Isizathu sokufa ngokuvamile sifisa (ukuphazamiseka) kokudla noma uketshezi, isifo sokuphefumula, noma ukuhlukunyezwa okukhulu ( isimo se-epilepticus ). Ezinye izingane ziyosinda kepha azikhombisi ukuthuthukiswa okuphawulekayo, futhi izingane zingase zihlale ezingeni elijwayelekile kumuntu oneminyaka engu-3 kuya kwengu-5 ubudala.
Ngenxa yalolu hlu emiphumeleni, kubalulekile ukufuna imibono yabathengi ku-lissencephaly nokusekelwa emaceleni omndeni ngokuxhuma kulabachwepheshe.
Ucwaningo
I-National Institute of Neurological Disorders and Stroke iqhuba futhi isekela izifundo eziningi ezihlola izinhlelo eziyinkimbinkimbi zokuthuthukiswa kobuchopho, kuhlanganise nokufuduka kwe-neuronal. Ucwaningo lwamuva luye lwabona izakhi zofuzo ezibhekene ne-lissencephaly. Ulwazi olutholakala kulezi zifundo luhlinzeka isisekelo sokuthuthukisa ukwelashwa kanye nezinyathelo zokuvimbela izifo ezibangelwa ukufuduka kwe-neuronal.
Izwi elivela
Uma ingane yakho ithola ukuthi une-lissencephaly, noma uma udokotela wengane yakho ecabangela ukuxilongwa, kungenzeka ukwesaba. Kusho ukuthini lokhu namuhla? Lokhu kusho ukuthini isonto kusukela manje? Kusho ukuthini lokhu eminyakeni emihlanu noma engu-25 phansi komgwaqo?
Ukuchitha isikhathi esithile ngokufunda ngesifo somntanakho (kungakhathaliseki ukuthi uhlolwe noma ukucatshangwa nje) kunganciphisa zonke izinkathazo zakho, kodwa kuzokubeka esihlalweni somshayeli. Kunoma yiluphi uhlobo lwesimo sezokwelapha ngaphakathi kwethu noma izingane zethu, ukuba yingxenye ekhuthele ekunakekeleni kubalulekile.
Ukuqoqa uhlelo lwakho lokusekela kubalulekile. Ngaphezu kwalokho, kuyasiza kakhulu ukuxhuma nabanye abazali abanezingane ezine-lissencephaly. Kungakhathaliseki ukuthi unothando noma usiza kanjani abangane bakho nomndeni wakho, kunokuthile okukhethekile ngokukhuluma nabanye abaye babhekana nezinselele ezifanayo. Amanethiwekhi asekela abazali nawo anika ithuba lokufunda ukuthi ucwaningo lwamuva lusho ukuthini.
Njengomzali, kubalulekile ukuzinakekela wena. Imizwelo yakho cishe kuyo yonke ibhodi futhi okumele kulindeleke. Ungase uzithole uzilimaza uma ubona abanye abazali abanezingane ezinempilo futhi uzibuza ukuthi kungani impilo ingaba ingalungile kangaka. Finyelela kulabo abangakunika ukusekelwa okungekho emthethweni futhi bakuvumele ukuthi wabelane ngalokho oyizwayo okwamanje.
> Imithombo:
> I-National Institute of Neurological Disorder and Stroke. Ikhasi Lolwazi Lissencephaly. https://www.ninds.nih.gov/Disorders/All-Disorders/Lissencephaly-Information-Page
> Shahsavani, M., Pronk, R., Falk, R. et al. I-In Vitro Model ye-Lissencephaly: Ukwandisa indima ye-DCX Ngesikhathi se-Neurogenesis. I-Psychiatry yamaphilisi . 2017 Septhemba 19. (Epub ngaphambi kokuphrinta).
> Williams, F., noP. Griffiths. Ku-Utero MR Imaging ku-Fetus at Risk High of Lissencephaly. I-British Journal ye-Radiology . 2017. 90 (1072): 20160902.