Ingabe ubuchopho bomntwana wakho "bubushelelezi"? Ake sixoxe nge-Lissencephaly!

Wake wezwa ngengane ezalwa "ingqondo ebushelelezi"? Kungenzeka ukuthi wesaba kancane lapho uzwa la mazwi. Namuhla, ake sixoxe ngokuthi lesi simo sibizwa ngokuthi 'i-Lissencephaly' empeleni siyini, ukuthi kungani senzeka, nokuthi siyithinta kanjani ingane. Nakuba lesi kuyisihloko esiyinkimbinkimbi, ngizosichaza ngendlela ongayiqonda.

Kuyini 'i-Lissencephaly'?

Kalula nje, i-`Lissencephaly` isho ukuthi `ubuchopho obubushelelezi.`` Lokhu kuyiphutha lobuchopho elingavamile kakhulu futhi elibi kakhulu. Livela lapho umntwana esesesibelethweni.

Cabanga ngakho, ubuchopho bethu bufana ne-walnut, akunjalo? Bunemigoqo eminingi (i-gyri) kanye nemigoqo (i-sulci). Lawa magoqo nemigoqo abaluleke kakhulu. Ahlukanisa izingxenye ezahlukene zobuchopho, futhi andisa indawo engaphezulu yobuchopho, okusisiza sithuthukise ubuhlakani bethu kanye nekhono lokucabanga.

Manje, enganeni ene-'Lissencephaly', lawa ma-'gyri' kanye ne-'sulci' awakhuli kahle ebuchosheni. Khona-ke ubuchopho bubukeka bubushelelezi kakhulu. Njengebhodi elibushelelezi. Yingakho libizwa ngokuthi "ubuchopho obubushelelezi" .

I-Lissencephaly ingaba ngezindlela eziningi. Kunezinhlobo ezingaphezu kuka-20 eziyinhloko. Kodwa ngokuvamile lezi zihlukaniswa ngezigaba ezimbili eziyinhloko:

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

Nakuba izimpawu zamaqembu womabili zifana kancane, izinguquko zofuzo ezibangela lokhu zingase zihluke.

Ngezinye izikhathi i-'Lissencephaly' iyenzeka yodwa, okungukuthi, ngaphandle kwezinye izimpawu. Lokhu sikubiza ngokuthi 'i-isolated lissencephaly'. Ngezinye izikhathi, kungenzeka kanye nezinye izimo ('syndromes') njenge-'Miller-Dieker syndrome' noma i-'Walker-Warburg syndrome'.

Izingane ezine-lissencephaly zivame ukuba nokubambezeleka okukhulu kokukhula kanye nokukhubazeka kwengqondo . Kodwa-ke, lokhu kuyahlukahluka kuye ngengane, kuye ngokuthi isimo sibucayi kangakanani.

Ubani othola i-Lissencephaly? Ivame kangakanani?

I-Lissencephaly ithinta izingane ezisakhula . Ivame ukukhula phakathi kwamasonto ayi-12 nama-24 okukhulelwa. Ivame ukubangelwa izinguquko zofuzo. Kodwa-ke, ingabangelwa nezimbangela ezingezona ezofuzo.

Lesi yisimo esingavamile kakhulu . Ngokusho kwabacwaningi, ingane eyodwa kuphela kweziyi-100,000 izalwa ne-Lissencephaly. Ngakho-ke ungakhathazeki ngalokhu, kodwa kufanelekile ukuqaphela.

Yiziphi izimpawu zomntwana one-lissencephaly?

Izimpawu ze-lissencephaly ziyahlukahluka kakhulu. Kuncike ngokuphelele ebunzimeni besimo nokuthi sihlotshaniswa yini nezinye izimo zezokwelapha. Ezinye izingane zingakhula ngokujwayelekile zinezinkinga zokufunda ezincane kuphela. Ngenkathi ezinye zingaba nezimpawu ezinzima kakhulu. Ubunzima balezi zimpawu buyahlukahluka kakhulu.

Ngakho-ke, kubaluleke kakhulu ukukhuluma nodokotela wakho ngalokho ongakulindela kuye ngohlobo lwe-lissencephaly ingane yakho enalo.

Ezinye zezimpawu ze-'Lissencephaly' yilezi:

• Ukuquleka: Izingane eziyisishiyagalolunye kweziyishumi ezine-lissencephaly ziba nesifo sokuwa zingakapheli unyaka wokuqala wokuphila. Lesi yisibonakaliso esivame kakhulu.
• Ubunzima bokugwinya (i-dysphagia) nokudla: Ingane ingaba nobunzima bokuncela nokugwinya ukudla.
• Ukulibaziseka kokukhula: Ingane ingase ingakhuli ngendlela elindelekile ngokweminyaka yayo. Izinto ezifana nokumomotheka, ukuphakamisa ikhanda layo, ukugingqika, nokuhlala phansi zingase zilibaleke.
• Ukukhubazeka kwengqondo kanye nomehluko ekufundeni: Intuthuko yengqondo ingathinteka.
• Ukuqaqamba kwemisipha: Ukuqaqamba kwemisipha nokudikiza kungase kwenzeke.
• Izinkinga ngemisebenzi ye-psychomotor: Kungase kube nobunzima bokuxhumana kwesandla neso, ukuhamba, kanye nokubamba izinto.
• Ukwehluleka ukukhula: Ukukhula komzimba kwengane kungase kuhambe kancane. Ingase ingakhuluphali futhi ihlale inomzimba omncane.
• Ikhanda elincane kunelivamile (i-microcephaly): Ikhanda lingase libe lincane kunelivamile ngokweminyaka.
• Umehluko wemilenze ozalwa nawo: Ungase uzalwe unemehluko ethile ezandleni, eminweni nasezinzwaneni.

Kungani kwenzeka i-'Lissencephaly'? Ziyini izimbangela?

I-Lissencephaly ingabangelwa yizici zofuzo kanye nezingezona ezefuzo. Ivame ukuvela esibelethweni, phakathi kwamasonto ayi-12 nama-24 okukhulelwa.

Kalula nje, lezi zimbangela zibangelwa ukufuduka kwe-neuronal okuphazamisekile kwengxenye engaphandle yobuchopho bomntwana (amaseli e-neuronal). Cabanga ngakho, ingxenye yobuchopho bethu ephethe ukunyakaza okuqaphelayo nokucabanga ibizwa ngokuthi i-cerebral cortex. Ngokuvamile inama-deep folds (gyri) kanye nama-grooves (sulci), akunjalo?

Njengoba ubuchopho bomntwana bukhula esibelethweni, kwakheka amangqamuzana amasha, kamuva aba amangqamuzana emizwa akhethekile bese ehamba aye ebusweni bobuchopho bomntwana. Lokhu kubizwa ngokuthi 'ukufuduka kwemizwa'. Ngale ndlela, kwakheka izendlalelo eziningana zamangqamuzana. Lezi zendlalelo zakha i-'gyri' (ama-fold).

Kodwa uma kwenzeka i-'Lissencephaly', lawa maseli awayi lapho kudingeka aye khona. Khona-ke i-'cerebral cortex' yomntwana ayakhi izendlalelo ezanele zamaseli. Ngenxa yalokhu, lawo ma-'gyri' (ama-fold) awekho noma awathuthuki kahle.

Izimbangela ezingezona ezezakhi zofuzo

Nakuba kuyizimbangela ezingavamile, ezingezona ezezakhi zofuzo nazo zingaba nomthelela ku-lissencephaly.

• Ukutheleleka ngegciwane kumama okhulelwe noma enganeni engakazalwa: Ezinye izifo ezibangelwa yigciwane, ikakhulukazi ezinyangeni ezintathu zokuqala zokukhulelwa (isonto lokuqala kuya kweleshumi nambili), zingathinta ingane esanda kuzalwa.
• Ukuncipha kokunikezwa kwegazi elinomoya-mpilo ebuchosheni bomntwana (ischemia): Lesi simo singase senzeke uma inani lomoya-mpilo elitholwa ubuchopho lincipha njengoba umntwana ekhula esibelethweni.

Izimbangela zofuzo

I-Lissencephaly ivame ukubangelwa ukuguquka kwezakhi zofuzo . Ukuguquka kwezakhi zofuzo kuwushintsho ochungechungeni lwe-DNA yethu. Uyazi, ukulandelana kwe-DNA yethu yilokho okunikeza amangqamuzana ethu ulwazi aludingayo ukuze enze imisebenzi yawo. Ngakho-ke uma ingxenye yalolu chungechunge lwe-DNA ingaphelele noma yonakele, izimpawu zesimo sofuzo zingavela.

Ingane ingazuza lolu shintsho lwezakhi zofuzo kumzali oyedwa noma bobabili. Kuye ngokuthi ushintsho lwezakhi zofuzo luzuzwa kanjani njengefa. Kodwa ngezinye izikhathi lolu shintsho lwezakhi zofuzo lungenzeka 'ngokungahleliwe', ngaphandle kokuba noma ubani emndenini abe nalesi simo ngaphambili.

Ososayensi bathole izakhi zofuzo eziningana ezingabangela i-lissencephaly. Ezinye zazo yilezi:

• I-gene ethi `LIS1` (`PAFAH1B1`): Ushintsho (`ukuguqulwa`) noma ukulahlekelwa yingxenye (`ukususwa`) kwalesi siginethi kuhlotshaniswa ne-`isolated lissencephaly` kanye ne-`Miller-Dieker syndrome`.
• I-gene ye-`DCX`: Lesi yi-gene ekwi-chromosome ye-`X`. Njengoba wazi, abesilisa bane-chromosome eyodwa ye-`X` kanye ne-chromosome eyodwa ye-`Y`. Ngakho-ke, izingane zesilisa zinamathuba amaningi okuthuthukisa i-`Lissencephaly` ngenxa yalolu shintsho lwezakhi zofuzo. Njengoba izingane zesifazane zivame ukuba nama-chromosome amabili e-`X`, noma ngabe zithola lesi simo, izimpawu azivamile ukuba zimbi kangako.
• Izakhi zofuzo ze-`ARX`: Izingane ezine-mutation kulesi sakhi zofuzo zine-`Lissencephaly` kanye nezinye izimpawu. Isibonelo, ukungabikho kwezingxenye zobuchopho (`agenesis of the corpus callosum`), ukukhubazeka kwezitho zangasese, kanye nesifo sokuwa esibi kakhulu. Izakhi zofuzo ze-`ARX` nazo zise-chromosome ye-`X`. Ngakho-ke, izingane zesilisa zivame ukuthinteka kakhulu.
• I-gene ethi `RELN`: Ukuguquka kwalesi sakhi kubangela isimo esibizwa ngokuthi `i-Norman-Roberts syndrome`, esihlanganisa ne-`Lissencephaly`.

I-Lissencephaly ihlolwa kanjani?

Ngezinye izikhathi, odokotela bangase basole ukuthi i-lissencephaly ibangelwa yilesi simo uma othile emndenini wake waba nalesi simo ngaphambili, noma uma ukuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa kuphakamisa ukukhathazeka. Kuleso simo, kungatholakala ngokuhlolwa okukhethekile ngesikhathi sokukhulelwa, njenge-amniocentesis, kanye nokuskena kwe-fetal magnetic resonance imaging (MRI) yobuchopho bomntwana.

Ngaphandle kwalokho, odokotela bavame ukuxilonga i-'Lissencephaly' ngemva kokuzalwa komntwana, ngokuhlolwa ngokomzimba komntwana kanye 'nokuhlolwa kwezithombe' kwekhanda.

Ngalezi zivivinyo zezithombe, odokotela babheka ukuthi i-'sulci' (imigqa) kanye ne-'gyri' (imigqa) ebusweni bobuchopho bomntwana ayikho noma inciphile, nokuthi i-'cerebral cortex' (cerebral cortex) iqine yini.

Yiziphi izivivinyo ezisetshenziswa ukuxilonga i-'Lissencephaly'?

Uma udokotela wakho esola ukuthi une-lissencephaly, ngokusekelwe emlandweni womndeni wakho noma imiphumela ye-ultrasound scan ngesikhathi sokukhulelwa, angase ancome ukuhlolwa okukhethekile okuningana ngesikhathi sokukhulelwa. Lokhu kufaka phakathi:

• Ukuhlolwa kwe-DNA yomntwana osanda kuzalwa okungenamaseli: Lokhu kuhilela ukuhlukanisa i-DNA kamama neyomntwana osanda kuzalwa esampula yegazi likamama. Le-DNA ibe isihlolwa elabhorethri ukuze kubonakale ukuthi kukhona yini amathuba aphezulu okuba nezinkinga ze-chromosome.
• I-Amniocentesis: Lokhu ukuhlolwa okuvame ukwenziwa phakathi nekota yesibili noma yesithathu yokukhulelwa. Kulesi sivivinyo, udokotela usebenzisa inalithi encane ukususa inani elincane le-amniotic fluid esikhwameni se-amniotic esizungeze umntwana. Leli sampula loketshezi libe selihlolwa elabhorethri. I-Amniocentesis ingathola izimo zofuzo kanye nokuguqulwa kwezakhi zofuzo okubangela izimo ezifana ne-lissencephaly.
• Ukusampula kwe-Chorionic villus (CVS): Kulolu vivinyo, udokotela uthatha isampula yezicubu ezibizwa ngokuthi i-chorionic villi kusuka ku-placenta yakho. Le sampula ingathathwa ngokusebenzisa umlomo wesibeletho (i-transcervical) noma ngodonga lwesisu (i-transabdominal). I-Chorionic villi iyizinhlayiya ezincane ezifana nomunwe ku-placenta. Ziqukethe izinto zofuzo zomntwana. Lolu vivinyo lwe-CVS lungathola ukuthi umntwana unesifo se-chromosome noma esinye isimo sofuzo.

Odokotela basebenzisa izivivinyo zezithombe ezinjengalezi ukuze baxilonge i-lissencephaly ngemva kokuzalwa komntwana:

• I-Head ultrasound: I-ultrasound iwukuhlolwa kwezithombe okungangenisi uhlaselo okusebenzisa amaza omsindo avame kakhulu ukudala izithombe noma amavidiyo ezitho zangaphakathi, njengobuchopho.
• I-Head computed tomography (i-CT scan):I-CT scan iyisivivinyo esisebenzisa ikhompyutha kanye ne-X-ray ukudala izithombe eziningi ezinezinhlangothi ezintathu (3D) zengxenye yomzimba ehlolwayo, kulokhu ikhanda nobuchopho bengane yakho.
• Ukuskena kobuchopho nge-magnetic resonance imaging (MRI): Ukuskena kwe-MRI kuwukuhlolwa okungenabuhlungu okukhiqiza izithombe ezicacile zezakhiwo nezicubu ebuchosheni bengane yakho. I-MRI isebenzisa i-magnet enkulu, amaza omsakazo, kanye nekhompyutha ukudala lezi zithombe ezinemininingwane. Ayisebenzisi ama-X-ray.

Udokotela wakho angase futhi acele ukuhlolwa kwe-EEG (Electroencephalogram) kwengane yakho. I-EEG ilinganisa futhi iqophe izimpawu zikagesi ebuchosheni bengane yakho. Ngesikhathi se-EEG, uchwepheshe ubeka amapuleti amancane ensimbi (ama-electrode) ekhanda lengane yakho. Lawa ma-electrode axhunywe emshinini onikeza udokotela ulwazi mayelana nomsebenzi wobuchopho bengane yakho.

Ukuqinisekisa ukuxilongwa, odokotela basebenzisa izifundo ze-DNA, njengokuhlaziywa kwe-chromosome kanye nokuhlaziywa kokuguqulwa kwezakhi zofuzo ezithile, ukuze bathole ushintsho lwezakhi zofuzo olubangela i-lissencephaly.

Iphathwa kanjani i-Lissencephaly?

Eqinisweni, okwamanje akukho ukwelashwa noma ukwelashwa kwe-lissencephaly. Esikhundleni salokho, odokotela belapha izimpawu ezithile zengane ngayinye ene-lissencephaly.

Lokhu kwelashwa kungadinga imizamo ehlanganisiwe yethimba lochwepheshe abahlukene, okuhlanganisa:

• Odokotela bezingane
• Odokotela bezinzwa
• Odokotela bezifo zesisu (ochwepheshe ohlelweni lokugaya ukudla)
• Ochwepheshe bezokudla
• Abelaphi bokuphefumula
• Abelaphi bomsebenzi kanye nomzimba

Abantu abanjalo bangafakwa.

Ukwelashwa okuvamile:

• Izindlela zokwenza kube lula ngezingane ezinezinkinga zokudla ukuthola izakhamzimba: isibonelo, ukuphakela ngepayipi esiswini (`ithubhu le-gastrostomy' - i-G-tube') kanye/noma ukwelashwa kokukhuluma nokugwinya (`ukwelashwa kokukhuluma nokugwinya').
• Imithi yokulwa nokuquleka: Imithi enikezwa ukulawula ukuquleka.
• Ukwelashwa ngokomsebenzi nangokomzimba ukusiza ngokuthuthukiswa kwemisipha nokuqinisa imisipha: Izinto ezifana nokuzivocavoca ukusiza ngamandla omzimba nokunyakaza.
• Ukubeka i-ventriculoperitoneal (VP) shunt ukulawula i-hydrocephalus: Ukuhlinzwa okuncane ukunciphisa ukunqwabelana koketshezi olwengeziwe ebuchosheni.

Uma ingane yakho ine-lissencephaly, udokotela wakho cishe uzoncoma ukwelulekwa ngofuzo.Kubhekisele ku.

Iyini iphrojekthi yomntwana one-lissencephaly?

Umbono wengane ene-lissencephaly uyahlukahluka kakhulu kuye ngokuthi isimo sibucayi kangakanani nokuthi sihlobene yini nezinye izimo zezokwelapha . Izingane eziningi ezine-lissencephaly zingase zihlale zisesigabeni sokuqala sokukhula. Lokhu kusho ukuthi zingase zingakwazi ukwenza izinto eziningi zodwa.

Kodwa-ke, ezinye izingane zingase zikhule ngendlela evamile ngomehluko omncane wokufunda, ngakho ungalilahli ithemba.

Ukwelashwa kwasekuqaleni nokuqhubekayo kungaba usizo kakhulu kwezinye izingane. Lokhu kwelashwa kufaka phakathi:

• Ukwelashwa ngokomzimba
• Ukwelashwa emsebenzini
• Ukwelashwa ngenkulumo
• Ukwelashwa kombono

Izinto ezinjengalezi zingafakwa.

Izingane eziningi ezine-lissencephaly kufanele ziphuze imithi nsuku zonke ukuze zivimbele isithuthwane futhi zelaphe ezinye izinkinga.

Iyini isikhathi sokuphila kwengane ene-lissencephaly?

Isilinganiso sokuphila kwengane ene-lissencephaly sifushane kakhulu. Iningi lezingane lifa ngaphambi kweminyaka eyi-10. Izimbangela eziyinhloko zokufa phakathi kwalabo abane-lissencephaly yi- aspiration kanye nesifo sokuphefumula .

Yini okufanele ngiyilindele uma ingane yami ine-'Lissencephaly'? / Ngingayinakekela kanjani ingane yami?

Into ebaluleke kakhulu okufanele uyikhumbule ukuthi azikho izingane ezimbili ezine-lissencephaly ezithinteka ngendlela efanayo. Akekho ongabikezela ngqo ukuthi ingane yakho izothinteka kanjani. Into engcono kakhulu ongayenza ukuze ulungiselele ikusasa ukukhuluma nodokotela abangochwepheshe ekucwaningeni nasekwelapheni i-lissencephaly.

Ukuze usize ekunakekeleni ingane yakho ene-lissencephaly, landela imiyalelo kadokotela ngqo:

• Nikeza yonke imithi njengoba uyalelwe.
• Yenza ukuhlolwa kokuthuthukiswa kanye nokwelashwa ngokunembile.
• Qiniseka ukuthi uya khona kuzo zonke izinkambo zokwelashwa ezilandelanayo.

I-Lissencephaly ingabangela izinkinga zengqondo, ze-neurologic, kanye/noma ze-psychomotor. Izingane eziningi ezine-lissencephaly zinokulibaziseka kokukhula futhi zingadinga usizo ngemisebenzi yansuku zonke empilweni yazo yonke.

Ithimba lezokwelapha lengane yakho lingaphendula imibuzo yakho futhi likunikeze ukwesekwa. Bangase bakwazi nokukutshela ngeqembu lokusekela elitholakala endaweni yakini noma ku-inthanethi.

Ingabe i-Lissencephaly ingavinjelwa?

Ngeshwa, amacala amaningi e-lissencephaly awakwazi ukuvinjelwa. Uma uhlela ukuba nomntwana,Khuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo. Lokhu kuzokusiza uqonde ingozi yokuba ingane yakho ibe nesifo sofuzo njenge-lissencephaly noma isimo esingabangelwa ukuguquka kwezakhi zofuzo okuzuzwe njengefa.

Kufanele ngimbone nini udokotela mayelana ne-'Lissencephaly'?

Uma ingane yakho itholakale ine-lissencephaly, kufanele ihlangane nethimba layo lezokwelapha njalo ukuze ibone ukuthi ukwelashwa kwayo kusebenza kahle yini nokuthi intuthuko yayo iqhubeka kanjani.

Ukuqonda ukuxilongwa kwe-Lissencephaly yengane yakho kungaba umsebenzi onzima. Ithimba lakho lezokwelapha lizokunikeza uhlelo lokwelapha oluqinile oluqondene ngqo nezimpawu zengane yakho. Into ebaluleke kakhulu ukuqinisekisa ukuthi ingane yakho ithola uthando nokusekelwa ekudingayo kukho konke ukuphila kwayo, nokuqaphela noma yiziphi izimpawu ezintsha ezingase zivele.

Yimuphi umyalezo esifuna ukuwuthatha ekhaya kule ndaba?

I-Lissencephaly yisimo esingavamile nesiyinkimbinkimbi esenzeka ngesikhathi sokuthuthukiswa kobuchopho bomntwana. Kulesi simo, ukugoqa okuvamile kanye nemisele (i-gyri kanye ne-sulci) ebuchosheni akwakhi kahle, okuholela ekubukekeni "okubushelelezi".

• Lokhu kungabangelwa izici zofuzo, kanye, ngokungavamile, izici ezingezona ezofuzo .
• Izimpawu zingahluka kakhulu kuye ngengane. Isifo sokuwa, ukubambezeleka kokukhula, kanye nobunzima bokudla kuvamile.
• Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela zokwelapha ezahlukahlukene zokulawula izimpawu nokuthuthukisa ikhwalithi yempilo yengane .
• Into ebaluleke kakhulu ukuqaphela lokhu kusenesikhathi, wenze ngokweseluleko sodokotela, bese unikeza ingane uthando nokusekelwa ekudingayo .
• Uma uneminye imibuzo mayelana nalokhu, ungesabi ukukhuluma nodokotela wakho. Kungaba usizo olukhulu ukujoyina amaqembu okusekelana nabanye abazali bezingane ezinjengalezi bese wabelana ngolwazi.

Khumbula, awuwedwa. Kukhona odokotela, abelaphi, nabanye abaningi abangakusiza kulolu hambo.

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I- Lissencephaly, ubuchopho obuthambile, ukukhubazeka kobuchopho, intuthuko yengane esanda kuzalwa, ukuguquka kwezakhi zofuzo, ukubambezeleka kwentuthuko, isifo sokuwa