Ingaba ingqondo yomntwana wakho "igudile"? Masithethe ngeLissencephaly!

Ngaba wakha weva ngomntwana ozalwa "enengqondo egudileyo"? Usenokuba woyika kancinci xa usiva la mazwi. Namhlanje, masithethe nje ngokuba le meko ibizwa ngokuba yi-'Lissencephaly' yintoni kanye kanye, kutheni isenzeka, kwaye ichaphazela njani umntwana. Nangona le yingongoma enzima, ndiza kuyichaza ngendlela onokuyiqonda.

Yintoni i-'Lissencephaly'?

Ngamafutshane, i-`Lissencephaly` ithetha ``ingqondo egudileyo.`` Le yingxaki engaqhelekanga nenzulu yobuchopho. Ivela xa umntwana esesesibelekweni.

Cinga ngayo, ingqondo yethu ifana ne-walnut, akunjalo? Inemiqolo emininzi (i-gyri) kunye nemiqolo (i-sulci). Le miqolo kunye nemiqolo ibaluleke kakhulu. Yahlula iindawo ezahlukeneyo zobuchopho, kwaye yonyusa indawo engaphezulu yobuchopho, nto leyo esinceda siphuhlise ubukrelekrele bethu kunye nobuchule bokucinga.

Ngoku, kumntwana one-'Lissencephaly', ezi 'gyri' kunye ne-'sulci' azikhuli kakuhle engqondweni. Emva koko ingqondo ibonakala igudile kakhulu. Njengebhodi egudileyo. Yiyo loo nto ibizwa ngokuba yi-"brain smooth" .

I-Lissencephaly inokuza ngeendlela ezahlukeneyo. Kukho iintlobo eziphambili ezingaphezu kwama-20. Kodwa uninzi lwazo zahlulwe zibe ziindidi ezimbini eziphambili:

• I-lissencephaly yakudala (Uhlobo 1)
• I-Cobblestone lissencephaly (Uhlobo 2 )

Nangona iimpawu zala maqela omabini zifana kancinci, utshintsho lwezakhi zofuzo olubangela ezi mpawu lunokwahluka.

Ngamanye amaxesha i-'Lissencephaly' iyenzeka yodwa, oko kukuthi, ngaphandle kwezinye iimpawu. Oku sikubiza ngokuba yi-'isolated lissencephaly'. Ngamanye amaxesha, inokwenzeka kunye nezinye iimeko ('syndromes') ezifana ne-'Miller-Dieker syndrome' okanye i-'Walker-Warburg syndrome'.

Abantwana abane-lissencephaly badla ngokuba nokulibaziseka okukhulu ekuphuhliseni nasekuphazamisekeni kwengqondo . Nangona kunjalo, oku kuyahluka ukusuka kumntwana ukuya komnye, kuxhomekeke kubukhali bemeko.

Ngubani ofumana iLissencephaly? Ixhaphake kangakanani?

I-Lissencephaly ichaphazela iimveku ezisakhulayo . Idla ngokukhula phakathi kweeveki ezili-12 nezingama-24 zokukhulelwa. Idla ngokubangelwa kukuguquka kwezakhi zofuzo. Nangona kunjalo, inokubangelwa zizizathu ezingezizo zezakhi zofuzo.

Esi sisifo esingaqhelekanga kakhulu . Ngokutsho kwabaphandi, ngumntwana omnye kuphela kwi-100,000 ozalwa ene-Lissencephaly. Ngoko ke musani ukothuka yile nto, kodwa kufanelekile ukuqaphela.

Ziziphi iimpawu zomntwana one-lissencephaly?

Iimpawu ze-lissencephaly zahlukile kakhulu. Kuxhomekeke ngokupheleleyo kubukhali bemeko nokuba inxulumene nezinye iimeko zonyango. Abanye abantwana banokukhula ngokuqhelekileyo beneengxaki zokufunda ezincinci. Ngelixa abanye banokuba neempawu ezinzima kakhulu. Ubukhali bezi mpawu nabo buyahluka kakhulu.

Ngoko ke, kubaluleke kakhulu ukuthetha nogqirha wakho malunga noko unokukulindela kuxhomekeke kuhlobo lwe-lissencephaly umntwana wakho anayo.

Ezinye zeempawu ze-'Lissencephaly' zezi:

• Ukuxhuzula: Abantwana abalithoba kwabalishumi abane-lissencephaly baba nesifo sokuxhuzula kunyaka wokuqala wobomi babo. Olu lolona phawu luqhelekileyo.
• Ubunzima bokuginya (dysphagia) nokutya: Umntwana usenokuba nobunzima bokuncanca nokuginya ukutya.
• Ukulibaziseka kokukhula: Usana lusenokungakhuli ngendlela elindelekileyo ngokweminyaka yalo. Izinto ezifana nokuncuma, ukuphakamisa intloko yalo, ukuqengqeleka, nokuhlala phezulu zinokulibaziseka.
• Ukukhubazeka kwengqondo kunye nomahluko ekufundeni: Uphuhliso lwengqondo lunokuchaphazeleka.
• Ukuqaqamba kwemisipha: Ukuqaqamba kwemisipha nokushukuma kwayo kunokwenzeka.
• Imiba enxulumene nemisebenzi ye-psychomotor: Kunokubakho ubunzima bokusebenzisana kwesandla neliso, ukuhamba, kunye nokubamba izinto.
• Ukungaphumeleli ukukhula: Ukukhula komzimba komntwana kusenokucotha kakhulu. Basenokungatyebi kwaye basenokuhlala bebhityile.
• Intloko encinci kuneqhelekileyo (i-microcephaly): Intloko isenokuba ncinci kuneqhelekileyo ngokweminyaka.
• Umahluko wemilenze ozelwe nawo: Usenokuzalwa unomahluko othile ezandleni, kwiminwe, nakwiinzwane.

Kutheni i-'Lissencephaly' isenzeka? Zithini izizathu?

I-Lissencephaly inokubangelwa zizinto zemfuza kunye nezingezizo zemfuza. Ihlala ikhula esibelekweni, phakathi kweeveki ezili-12 kunye nezingama-24 zokukhulelwa.

Ngamafutshane, ezi zizathu zibangelwa kukuphazamiseka kokufuduka kwee-neuronal kwinxalenye engaphandle yengqondo yomntwana (iiseli ze-neuronal). Cinga ngako, inxalenye yengqondo yethu enoxanduva lokushukuma kwengqondo kunye nengcinga ibizwa ngokuba yi-cerebral cortex. Ihlala inee-deep folds (gyri) kunye ne-grooves (sulci), akunjalo?

Njengoko ingqondo yomntwana ikhula esibelekweni, kwakheka iiseli ezintsha, ezithi kamva zibe ziiseli zemithambo-luvo ezikhethekileyo zize zihambe ziye kumphezulu wengqondo yomntwana. Oku kubizwa ngokuba yi-'neuronal migration'. Ngale ndlela, kwakheka iileya ezininzi zeeseli. Ezi leya zenza i-'gyri' (iifoldi).

Kodwa kwimeko ye-'Lissencephaly', ezi seli aziyi apho kufuneka ziye khona. Emva koko i-'cerebral cortex' yomntwana ayizizo iileya ezaneleyo zeeseli. Ngenxa yesi sizathu, ezo 'gyri' (iziqwenga) azikho okanye azikhuli ngokwaneleyo.

Izizathu ezingezizo ezemfuza

Nangona zinqabile, izizathu ezingezizo ezemfuza nazo zinokubangela i-lissencephaly.

• Usulelo lwentsholongwane kumama okhulelweyo okanye kumntwana ongekazalwa: Ezinye izifo zentsholongwane, ingakumbi kwiinyanga ezintathu zokuqala zokukhulelwa (kwiveki yokuqala ukuya kweyeshumi elinesibini), zinokuchaphazela umntwana ongekazalwa.
• Ukuncipha kokunikezelwa kwegazi elineoksijini engqondweni yomntwana (ischemia): Le meko inokwenzeka ukuba ubungakanani beoksijini efunyanwa yingqondo buyancipha njengoko umntwana ekhula esibelekweni.

Izizathu zofuzo

I-Lissencephaly idla ngokubangelwa kukuguquka kwezakhi zofuzo . Ukuguquka kwezakhi zofuzo kukutshintsha kolandelelwano lwe-DNA yethu. Uyazi, ulandelelwano lwethu lwe-DNA lulo olunika iiseli zethu ulwazi eziludingayo ukuze zenze imisebenzi yazo. Ngoko ke ukuba inxalenye yolu landelelwano lwe-DNA ayiphelelanga okanye yonakele, iimpawu zesimo sezakhi zofuzo zinokuvela.

Usana lunokuzuza olu tshintsho lwemfuza kumzali omnye okanye bobabini. Kuxhomekeke kwindlela olu tshintsho lwemfuza oluzuzwa ngayo. Kodwa ngamanye amaxesha olu tshintsho lwemfuza lunokwenzeka 'ngokungacwangciswanga', ngaphandle kokuba nabani na kusapho lwakhe abe nale meko ngaphambili.

Izazinzulu zichonge iijini ezininzi ezinokubangela i-lissencephaly. Ezinye zazo zezi:

• Ijini ethi `LIS1` (`PAFAH1B1`): Utshintsho (`uguquko`) okanye ukulahleka kwenxalenye (`ukususwa`) yale jini kunxulunyaniswa ne-`isolated lissencephaly` kunye ne-`Miller-Dieker syndrome`.
• Ijini ye-`DCX`: Le yijini ekwi-chromosome ye-`X`. Njengoko usazi, amadoda ane-chromosome enye ye-`X` kunye ne-`Y` enye. Ke ngoko, abantwana abangamaduna banamathuba amaninzi okufumana i-`Lissencephaly` ngenxa yolu tshintsho lwejini. Ekubeni abantwana abangamaduna bedla ngokuba nee-chromosome ezimbini ze-`X`, nokuba bafumene le meko, iimpawu azibi zimbi kangako.
• Ijini ethi `ARX`: Iintsana ezine-mutation kule jini zine-`Lissencephaly` kunye nezinye iimpawu. Umzekelo, ukungabikho kwamalungu engqondo (`agenesis of the corpus callosum`), ukungaqheleki kwamalungu esini, kunye nesifo sokuwa esibi. Ijini ethi `ARX` ikwakwi-chromosome ethi `X`. Ke ngoko, iintsana ezingamaduna zihlala zichaphazeleka.
• Ijini ethi `RELN`: Utshintsho oluvela kule jini lubangela imeko ebizwa ngokuba yi`Norman-Roberts syndrome`, ekwaquka ne`Lissencephaly`.

Ifunyanwa njani iLissencephaly?

Ngamanye amaxesha, oogqirha banokukrokrela ukuba i-lissencephaly ngexesha lokukhulelwa ukuba kukho umntu kusapho lwakhe owakha waba nale meko ngaphambili, okanye ukuba iskeni ye-ultrasound ngexesha lokukhulelwa ibangela inkxalabo. Kwimeko enjalo, inokuchongwa ngovavanyo olukhethekileyo ngexesha lokukhulelwa, olufana ne-amniocentesis, kunye neskeni ye-fetal magnetic resonance imaging (MRI) yengqondo yomntwana.

Ngaphandle koko, oogqirha badla ngokuxilonga i-'Lissencephaly' emva kokuba umntwana ezelwe, ngokuhlolwa komntwana ngokwasemzimbeni kunye 'novavanyo lwemifanekiso' yentloko.

Ngezi vavanyo zomfanekiso, oogqirha bajonga ukuba i-'sulci' (i-grooves) kunye ne-'gyri' (i-folds) kumphezulu wengqondo yomntwana azikho okanye zinciphile, kwaye ukuba i-'cerebral cortex' (cerebral cortex) ityebile na.

Zeziphi iimvavanyo ezisetyenziswayo ukuxilonga i-'Lissencephaly'?

Ukuba ugqirha wakho urhanela ukuba une-lissencephaly, nokuba kusekelwe kwimbali yosapho lwakho okanye kwiziphumo ze-ultrasound scan ngexesha lokukhulelwa, unokucebisa iimvavanyo ezikhethekileyo ezininzi ngexesha lokukhulelwa. Ezi ziquka:

• Uvavanyo lwe-DNA yosana olungenaziseli: Oku kubandakanya ukwahlula i-DNA kamama neyosana olusandul’ ukuzalwa kwisampulu yegazi likamama. Le DNA emva koko ivavanywa kwilabhoratri ukuze kubonwe ukuba kukho amathuba aphezulu okuba kubekho naziphi na iingxaki ze-chromosome.
• I-Amniocentesis: Olu luvavanyo oludla ngokwenziwa ngexesha lekota yesibini okanye yesithathu yokukhulelwa. Kolu vavanyo, ugqirha usebenzisa inaliti encinci ukususa inani elincinci lolwelo lwe-amniotic kwingxowa ye-amniotic ejikeleze usana. Le sampuli yolwelo emva koko ivavanywa kwilebhu. I-Amniocentesis inokufumanisa iimeko zemfuza kunye notshintsho olubangela iimeko ezifana ne-lissencephaly.
• Isampuli yeChorionic villus (CVS): Kolu vavanyo, ugqirha uthatha isampuli yezicubu ezibizwa ngokuba yi-chorionic villi kwi-placenta yakho. Le sampuli ingathathwa nge-cervix (transcervical) okanye ngodonga lwesisu (transabdominal). I-Chorionic villi zii-projections ezincinci ezifana neminwe kwi-placenta. Ziqulethe izinto zofuzo zomntwana. Olu vavanyo lwe-CVS lunokufumanisa ukuba umntwana unemeko ye-chromosome okanye enye imeko yemfuza.

Oogqirha basebenzisa iimvavanyo zomfanekiso ezifana nezi ukuze baxilonge i-lissencephaly emva kokuba umntwana ezelwe:

• I-ultrasound yentloko: I-ultrasound luvavanyo lokufota olungangenisi ntsholongwane olusebenzisa amaza esandi aphezulu ukwenza imifanekiso okanye iividiyo zamalungu angaphakathi, njengobuchopho.
• I-CT scan eqhutywa ngekhompyutha entloko:I-CT scan luvavanyo olusebenzisa ikhompyutha kunye nee-X-reyi ukudala imifanekiso emininzi yecala lomzimba elihlolwayo, kule meko intloko nengqondo yomntwana wakho.
• Iskeni yobuchopho yeMagnetic resonance imaging (MRI): Iskeni ye-MRI luvavanyo olungenabuhlungu oluvelisa imifanekiso ecacileyo yezakhiwo kunye nezicubu ezikwingqondo yomntwana wakho. I-MRI isebenzisa imagnethi enkulu, amaza erediyo, kunye nekhompyutha ukwenza le mifanekiso ineenkcukacha. Ayisebenzisi ii-X-reyi.

Ugqirha wakho unokuyalela uvavanyo lwe-EEG (Electroencephalogram) lomntwana wakho. I-EEG ilinganisa kwaye irekhode imiqondiso yombane engqondweni yomntwana wakho. Ngexesha le-EEG, ingcali ibeka iipleyiti zesinyithi ezincinci (ii-electrode) entlokweni yomntwana wakho. Ezi electrode ziqhagamshelwe kumatshini onika ugqirha ulwazi malunga nomsebenzi wobuchopho bomntwana wakho.

Ukuqinisekisa ukuxilongwa, oogqirha basebenzisa izifundo ze-DNA, ezifana nohlalutyo lwe-chromosome kunye nohlalutyo oluthile lokuguqulwa kwezakhi zofuzo, ukuchonga utshintsho lwezakhi zofuzo olubangela i-lissencephaly.

Iphathwa njani iLissencephaly?

Enyanisweni, okwangoku akukho nyango okanye unyango lwe-lissencephaly. Endaweni yoko, oogqirha banyanga iimpawu ezithile zomntwana ngamnye one-lissencephaly.

Olu nyango lunokufuna imizamo edibeneyo yeqela leengcali ezahlukeneyo, kuquka:

• Iingcali zezingane
• Iingcali ze-Neurology
• Iingcali zeGastroenterologists (iingcali kwinkqubo yokwetyisa)
• Iingcali zezondlo
• Iingcali zokuphefumla
• Iingcali zonyango zomsebenzi kunye nezomzimba

Abantu abanjalo banokubandakanywa.

Unyango oluqhelekileyo:

• Iindlela zokwenza kube lula kubantwana abanengxaki yokutya ukufumana izondlo: umzekelo, ukondla ngetyhubhu ukuya esiswini (`gastrostomy tube' - G-tube') kunye/okanye unyango lokuthetha nokuginya (`unyango lokuthetha nokuginya').
• Amayeza okulwa nokuxhuzula: Amayeza anikwa ukulawula ukuxhuzula.
• Unyango lomsebenzi kunye nolwezomzimba ukunceda ekuphuhliseni iintshukumo zomzimba kunye nokomeleza izihlunu: Izinto ezifana nokuzilolonga ukunceda amandla omzimba kunye nokuhambahamba.
• Ukubeka i-ventriculoperitoneal (VP) shunt ukulawula i-hydrocephalus: Utyando oluncinci lokunciphisa ukuqokelelwa kolwelo olungaphezulu engqondweni.

Ukuba umntwana wakho une-lissencephaly, ugqirha wakho uya kucebisa ukuba afumane ingcebiso nge-genetic.Ibhekisele kwi.

Ithini ingqikelelo yomntwana one-lissencephaly?

Imbono yomntwana one-lissencephaly iyahluka kakhulu ngokuxhomekeke kubukhali bemeko kunye nokuba inxulumene nezinye iimeko zonyango . Abantwana abaninzi abane-lissencephaly banokuhlala besekwinqanaba labo lokukhula kwasekuqaleni. Oku kuthetha ukuba banokungakwazi ukwenza izinto ezininzi bodwa.

Nangona kunjalo, abanye abantwana banokukhula ngendlela eqhelekileyo ngokwahlukana okuncinci kokufunda, ngoko ke musa ukuphelelwa lithemba.

Unyango oluqhubekayo kwangethuba lunokuba luncedo kakhulu kwabanye abantwana. Olu nyango luquka:

• Ulungiso lwenyama
• Unyango lomsebenzi
• Unyango lokuthetha
• Unyango lombono

Izinto ezinje zingabandakanywa.

Abantwana abaninzi abane-lissencephaly kufuneka bathathe amayeza imihla ngemihla ukuthintela isifo sokuwa kunye nokunyanga ezinye iingxaki.

Ingakanani ixesha lokuphila komntwana one-lissencephaly?

Umyinge wobomi bomntwana one-lissencephaly bufutshane kakhulu. Uninzi lwabantwana lufa ngaphambi kokuba lufikelele kwiminyaka eli-10. Izizathu eziphambili zokufa kwabo bane-lissencephaly zizifo zokuphefumla kunye nesifo sokuphefumla .

Yintoni endimele ndiyilindele ukuba umntwana wam une-'Lissencephaly'? / Ndingamnyamekela njani umntwana wam?

Eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba akukho bantwana babini abane-lissencephaly abachaphazeleka ngendlela efanayo. Akukho mntu unokuqikelela ngqo ukuba umntwana wakho uza kuchaphazeleka njani. Eyona nto ingcono onokuyenza ukulungiselela ikamva kukuthetha noogqirha abangoochwephesha ekuphandeni nasekunyangeni i-lissencephaly.

Ukuze uncede ukhathalele umntwana wakho one-lissencephaly, landela imiyalelo kagqirha ngokuchanekileyo:

• Nika onke amayeza njengoko kuchaziwe.
• Yenza uvavanyo lophuhliso kunye nonyango ngokuchanekileyo.
• Qiniseka ukuba uyaya kuzo zonke iityelelo zonyango ezilandelayo.

I-Lissencephaly inokubangela iingxaki zengqondo, ze-neurologic, kunye/okanye ze-psychomotor. Abantwana abaninzi abane-lissencephaly banokulibaziseka ekukhuleni kwaye banokufuna uncedo ngemisebenzi yemihla ngemihla ebomini babo bonke.

Iqela lezonyango lomntwana wakho linokukuphendula imibuzo yakho kwaye likunike inkxaso. Banokukwazi ukukuxelela ngeqela lenkxaso elifumanekayo kwindawo okuyo okanye kwi-intanethi.

Ngaba iLissencephaly ingathintelwa?

Ngelishwa, uninzi lweemeko ze-lissencephaly azinakuthintelwa. Ukuba uceba ukuba nomntwana,Thetha nogqirha wakho malunga novavanyo lwemfuza. Oku kuya kukunceda uqonde umngcipheko wokuba umntwana wakho abe nesifo semfuza esifana ne-lissencephaly okanye isifo esinokubangelwa kukuguquka kwemfuza okuzuzwe njengelifa.

Ndifanele ndimbone nini ugqirha malunga ne-'Lissencephaly'?

Ukuba umntwana wakho ufunyaniswe ene-lissencephaly, kufuneka adibane neqela lakhe lezonyango rhoqo ukuze abone ukuba unyango lwakhe lusebenza kakuhle na kwaye uphuhliso lwakhe luqhubeka njani.

Ukuqonda ukuxilongwa kweLissencephaly yomntwana wakho kunokuba ngumsebenzi onzima. Iqela lakho lezonyango liza kukunika isicwangciso sonyango esiqinileyo esihambelana ngqo neempawu zomntwana wakho. Eyona nto ibalulekileyo kukuqinisekisa ukuba umntwana wakho ufumana uthando kunye nenkxaso ayidingayo ebomini bakhe bonke, kwaye aqaphele naziphi na iimpawu ezintsha ezinokuvela.

Sithini isigidimi esifuna ukusithatha ekhaya kweli bali?

I-Lissencephaly yimeko engaqhelekanga neyinkimbinkimbi eyenzeka ngexesha lokukhula kwengqondo yomntwana. Kule meko, imiqolo eqhelekileyo kunye nemingxunya (i-gyri kunye ne-sulci) engqondweni ayibumbi kakuhle, nto leyo ebangela ukuba ibonakale "igudile".

• Oku kunokubangelwa zizinto ezibangela imfuza, kunye, ngokungaqhelekanga, nezinto ezingezizo ezibangela imfuza .
• Iimpawu zingahluka kakhulu kumntwana ngamnye. Ukuxhuzula, ukulibaziseka ekukhuleni, kunye nobunzima bokutya zizinto eziqhelekileyo.
• Nangona kungekho nyango lupheleleyo loku, kukho iindlela ezahlukeneyo zonyango kunye neendlela zonyango zokulawula iimpawu kunye nokuphucula umgangatho wobomi bomntwana .
• Eyona nto ibalulekileyo kukuyiqonda kwasekuqaleni, wenze ngokweengcebiso zoogqirha, kwaye unike umntwana uthando nenkxaso ayidingayo .
• Ukuba unemibuzo engaphezulu malunga noku, ungoyiki ukuthetha nogqirha wakho. Kungakunceda kakhulu ukujoyina amaqela enkxaso nabanye abazali babantwana abanjengale kwaye wabelane ngamava.

Khumbula, awuwedwa. Kukho oogqirha, iingcali zonyango, kunye nabanye abaninzi abanokukunceda kolu hambo.

I- Lissencephaly, ubuchopho obuthambileyo, ukukhubazeka kwengqondo, uphuhliso lomntwana ongekazalwa, utshintsho lwemfuza, ukulibaziseka kophuhliso, isifo sokuwa