Ese ubwonko bw'umwana wawe "buraryoshye"? Reka tuvuge kuri Lissencephaly!

Ese wigeze wumva ko umwana avuka afite "ubwonko bugenda neza"? Ushobora kuba waragize ubwoba gato ubwo wumvise aya magambo. Uyu munsi, reka tuganire gusa ku kibazo cyitwa 'Lissencephaly', impamvu kibaho, n'uko bigira ingaruka ku mwana. Nubwo iki ari ikibazo kigoye, ndagisobanura mu buryo ushobora gusobanukirwa.

"Lissencephaly" ni iki?

Mu magambo make, `Lissencephaly` bisobanura ``ubwonko buroroshye.`` Iyi ni ubumuga budasanzwe kandi bukomeye mu bwonko. Ikura umwana akiri mu nda.

Tekereza nawe, ubwonko bwacu bumeze nk'igiti cy'umunyu, si byo se? Bufite uduce twinshi (gyri) n'imirongo (sulci). Utu duce duto n'imirongo ni ingenzi cyane. Dutandukanya ibice bitandukanye by'ubwonko, kandi twongera ubuso bw'ubwonko, bidufasha guteza imbere ubwenge bwacu n'ubushobozi bwo gutekereza.

Noneho, ku mwana ufite 'Lissencephaly', izi 'gyri' na 'sulci' ntibikura neza mu bwonko. Hanyuma ubwonko bugaragara neza cyane. Nk'ikibaho cyoroshye. Niyo mpamvu cyitwa "ubwonko bworoshye" .

Lissencephaly ishobora kuza mu buryo butandukanye. Hari ubwoko bw'ingenzi burenga 20. Ariko akenshi ubu bugabanyijemo ibyiciro bibiri by'ingenzi:

• Indwara ya lissencephaly isanzwe (Ubwoko bwa 1)
• Indwara ya Cobblestone lissencephaly (Ubwoko bwa 2 )

Nubwo ibimenyetso by'amatsinda yombi bisa gato, impinduka mu ngirabuzimafatizo zibitera zishobora gutandukana.

Hari igihe `Lissencephaly` iba yonyine, ni ukuvuga nta bindi bimenyetso. Ibi tubyita `insolate lissencephaly`. Hari n'igihe, ishobora kubaho hamwe n'izindi ndwara (`syndromes`) nka `Miller-Dieker syndrome` cyangwa `Walker-Warburg syndrome`.

Abana barwaye lissencephaly bakunze kugira ibibazo bikomeye mu mikurire no mu bushobozi bwo mu mutwe . Ariko, ibi biratandukanye bitewe n'uburemere bw'indwara.

Ni nde urwara Lissencephaly? Ni ku rugero rungana iki?

Lissencephaly igira ingaruka ku bana bakiri mu nda bakura . Akenshi ikura hagati y'ibyumweru 12 na 24 byo gutwita. Akenshi iterwa n'impinduka mu miterere y'uturemangingo. Ariko, ishobora no guterwa n'impamvu zitari iz'uturemangingo.

Iyi ni indwara idakunze kugaragara . Abashakashatsi babivuga, umwe gusa mu bana 100.000 ni we uvukana Lissencephaly. Bityo rero ntugahangayikishwe n'ibi, ariko birakwiye kubimenya.

Ni ibihe bimenyetso by'umwana urwaye lissencephaly?

Ibimenyetso bya lissencephaly biratandukanye cyane. Biterwa rwose n'uburemere bw'iyi ndwara ndetse niba ifitanye isano n'izindi ndwara. Abana bamwe bashobora gukura bisanzwe bafite ubumuga buke bwo kwiga. Mu gihe abandi bashobora kugira ibimenyetso bikomeye cyane. Uburemere bw'ibi bimenyetso nabwo buratandukanye cyane.

Kubwibyo, ni ngombwa cyane kuganira na muganga wawe ku byo witeze bitewe n'ubwoko bwa lissencephaly umwana wawe afite.

Bimwe mu bimenyetso bya 'Lissencephaly' ni ibi bikurikira:

• Indwara zo mu mutwe: Abana icyenda kuri icumi barwaye indwara ya lissencephaly barwara igicuri mu mwaka wa mbere w'ubuzima bwabo. Iki ni cyo kimenyetso gikunze kugaragara cyane.
• Kugorwa no kumira (dysphagia) no kurya: Umwana ashobora kugira ikibazo cyo konka no kumira ibiryo.
• Gutinda mu mikurire: Umwana ashobora kudakura uko abyiteze ukurikije imyaka ye. Ibintu nko kumwenyura, kuzamura umutwe, kunyeganyega no kwicara bishobora gutinda.
• Ubumuga bwo mu mutwe n'itandukaniro mu myigire: Iterambere ry'ubwenge rishobora kugira ingaruka.
• Kubabara kw'imitsi: Kubabara kw'imitsi no kunyeganyega bishobora kubaho.
• Ibibazo ku mikorere y'ubwonko: Hashobora kubaho ingorane mu guhuza intoki n'amaso, kugenda no gufata ibintu.
• Kunanirwa gukura: Imikurire y'umwana ishobora gutinda cyane. Ashobora kutabyibuha kandi agakomeza kuba muto.
• Umutwe muto ugereranije n'usanzwe (microcephaly): Umutwe ushobora kuba muto ugereranije n'usanzwe ukurikije imyaka.
• Itandukaniro ry'ingingo z'umubiri: Ushobora kuvukana itandukaniro mu biganza, intoki, n'amano.

Kuki "Lissencephaly" ibaho? Ni izihe mpamvu?

Lissencephaly ishobora guterwa n'ibintu byombi bishingiye ku ngirabuzimafatizo ndetse n'ibitari byo. Akenshi ikunze kugaragara mu nda, hagati y'ibyumweru 12 na 24 byo gutwita.

Mu magambo make, izi mpamvu ziterwa no kutumvikana kw'imigendekere y'imitsi y'inyuma y'ubwonko bw'umwana (uturemangingo tw'imitsi). Tekereza nawe, igice cy'ubwonko bwacu gishinzwe kugenda no gutekereza kitwa cerebral cortex. Akenshi kiba gifite imigozi miremire (gyri) n'imiyoboro (sulci), si byo se?

Uko ubwonko bw'umwana bukura mu nda, havuka uturemangingo dushya, nyuma tukaba uturemangingo twihariye tw'imitsi tujya hejuru y'ubwonko bw'umwana. Ibi byitwa 'kwimuka kw'imitsi'. Muri ubu buryo, havuka uturemangingo twinshi. Utwo duce dukora 'gyri' (uduce duto).

Ariko ku bijyanye na 'Lissencephaly', utwo turemangingo ntabwo tujya aho tugomba kujya. Icyo gihe 'cerebral cortex' y'umwana ntikora uturemangingo duhagije. Kubera iyo mpamvu, utwo 'gyri' (udutsi) tuba tubuze cyangwa ntiturakura neza.

Impamvu zitari iz'uruhererekane rw'ibinyabuzima

Nubwo bidakunze kubaho, impamvu zitari iz’uruhererekane rw’uturemangingo nazo zishobora gutera indwara ya lissencephaly.

• Kwandura virusi ku mubyeyi utwite cyangwa ku mwana uri mu nda: Hari ubwandu bwa virusi, cyane cyane mu mezi atatu ya mbere yo gutwita (kuva ku cyumweru cya mbere kugeza ku cyumweru cya cumi na kabiri), bushobora kugira ingaruka ku mwana uri mu nda.
• Kugabanuka k'amaraso afite umwuka wa ogisijeni mu bwonko bw'umwana (ischemia): Iyi ndwara ishobora kubaho iyo ingano ya ogisijeni ubwonko bwakira igabanutse uko umwana akura mu nda.

Impamvu z'uturemangingo

Lissencephaly ikunze guterwa n’impinduka mu miterere y’uturemangingo . Impinduka mu miterere y’uturemangingo ni impinduka mu ruhererekane rwa ADN yacu. Urabizi, uruhererekane rwa ADN yacu ni rwo ruha uturemangingo twacu amakuru dukeneye kugira ngo dukore akazi katwo. Rero niba igice cy’uru ruhererekane rwa ADN kitaruzura cyangwa cyangiritse, ibimenyetso by’indwara y’uturemangingo bishobora kubaho.

Uruhinja rushobora kuragwa iyi mpinduka mu ngirabuzimafatizo iva ku mubyeyi umwe cyangwa bombi. Biterwa n'uburyo iyo mpinduka mu ngirabuzimafatizo iragwa. Ariko rimwe na rimwe izi mpinduka mu ngirabuzimafatizo zishobora kubaho "ku buryo butunguranye", nta muntu n'umwe mu muryango wigeze agira iyi ndwara mbere.

Abahanga mu bya siyansi bavumbuye utunyangingo twinshi dushobora gutera indwara ya lissencephaly. Zimwe muri zo ni izi:

• `LIS1` (`PAFAH1B1`) gene: Impinduka (`mutation`) cyangwa kubura igice (`gusiba`) cy'iyi gene bifitanye isano na `isolated lissencephaly` ndetse na `Miller-Dieker syndrome`.
• Gene ya `DCX`: Iyi ni gene iri kuri chromosome ya `X`. Nkuko mubizi, abagabo bafite chromosome imwe ya `X` na chromosome imwe ya `Y`. Kubwibyo, abana b'abahungu bafite amahirwe menshi yo kurwara `Lissencephaly` bitewe n'iyi mihindagurikire y'uturemangingo. Kubera ko abana b'abakobwa bakunze kugira chromosome ebyiri za `X`, nubwo barwara iyi ndwara, ibimenyetso akenshi ntibiba bikomeye cyane.
• Gene ya `ARX`: Abana bafite impinduka muri iyi gene bafite `Lissencephaly` hamwe n'ibindi bimenyetso. Urugero, kutagira ibice by'ubwonko (`agenesis of the corpus callosum`), indwara zidakira mu myanya ndangagitsina, n'igicuri gikomeye. Gene ya `ARX` nayo iri kuri chromosome ya `X`. Kubwibyo, abana b'abahungu nibo bakunze kwibasirwa cyane.
• Gene ya `RELN`: Impinduka muri iyi gene itera indwara yitwa `Norman-Roberts syndrome`, irimo kandi `Lissencephaly`.

Ni gute Lissencephaly ipimwa?

Hari igihe abaganga bashobora gukeka ko indwara ya lissencephaly mu gihe batwite ari uko hari umuntu wo mu muryango wigeze kuyirwara mbere, cyangwa niba scan ya ultrasound mu gihe batwite itera impungenge. Muri icyo gihe, ishobora gusuzumwa binyuze mu bipimo byihariye mu gihe batwite, nka amniocentesis, na scan ya MRI y'ubwonko bw'umwana.

Bitabaye ibyo, abaganga basanzwe basuzuma `Lissencephaly` nyuma y'uko umwana avutse, binyuze mu gusuzuma umwana no gupima umutwe.

Muri ibi bizamini byo gufata amashusho, abaganga bareba niba `sulci` (imiyoboro) na `gyri` (imigozi) biri ku buso bw'ubwonko bw'umwana ntaho biherereye cyangwa byaragabanutse, kandi niba `cerebral cortex` (cerebral cortex) yabyimbye.

Ni ibihe bipimo bikoreshwa mu gusuzuma `Lissencephaly`?

Niba muganga wawe akeka ko ufite lissencephaly, haba hashingiwe ku mateka y'umuryango wawe cyangwa ibisubizo bya ultrasound scan mu gihe utwite, ashobora kukugira inama yo gupima ibizamini byinshi byihariye mu gihe utwite. Ibi birimo:

• Gupima ADN y'umwana ukiri mu nda nta turemangingo: Ibi bikubiyemo gutandukanya ADN y'umubyeyi n'umwana uri mu nda n'ingero z'amaraso ya nyina. Iyi ADN igeragezwa muri laboratwari kugira ngo harebwe niba hari amahirwe menshi yo kugira ibibazo bya chromosome.
• Amniocentesis: Iki ni ikizamini gikunze gukorwa mu gihembwe cya kabiri cyangwa icya gatatu cyo gutwita. Muri iki kizamini, muganga akoresha urushinge ruto kugira ngo akureho amazi make ya amniotic mu gafuka k'amniotic gakikije umwana. Iki gipimo cy'amazi gishyirwa muri laboratwari. Amniocentesis ishobora kumenya imiterere y'uturemangingo n'impinduka zitera indwara nka lissencephaly.
• Gupima intanga za Chorionic (CVS): Muri iki kizamini, umuganga afata icyitegererezo cy'ingingo zitwa chorionic villi mu nyababyeyi yawe. Iki cyitegererezo gishobora gufatwa binyuze mu nkondo y'umura (transcervical) cyangwa binyuze mu rukuta rw'inda (transabdominal). Chorionic villi ni uduce duto tumeze nk'intoki ku nyababyeyi. Bikubiyemo ibintu bigize imiterere y'umwana. Iki kizamini cya CVS gishobora kumenya niba umwana afite imiterere ya chromosome cyangwa indi ndwara ya genetiki.

Abaganga bakoresha ibizamini nk'ibi kugira ngo bapime lissencephaly nyuma yo kuvuka k'umwana:

• Ultrasound yo mu mutwe: Ultrasound ni ikizamini cyo gufata amashusho kidakoresha ikoranabuhanga rikoresha amajwi menshi kugira ngo hakorwe amashusho cyangwa amashusho y’ingingo z’imbere mu mubiri, nk’ubwonko.
• Tomografia yo mu mutwe (CT scan):Isuzuma rya CT ni ikizamini gikoresha mudasobwa na X-ray kugira ngo hakorwe amashusho menshi y’igice cy’umubiri kiri gusuzumwa mu buryo bwa 3D, muri iki gihe umutwe n’ubwonko by’umwana wawe.
• Gupima ubwonko hakoreshejwe ikoranabuhanga rya MRI (magnetic resonance imaging): Gupima MRI ni ikizamini kidababaza kandi gitanga amashusho asobanutse neza y’imiterere n’ingingo mu bwonko bw’umwana wawe. MRI ikoresha magneti nini, imiraba ya radiyo, na mudasobwa kugira ngo ikore ayo mashusho arambuye. Ntikoresha X-rays.

Muganga wawe ashobora kandi gutegeka ko umwana wawe apimwa EEG (Electroencephalogram). EEG ipima kandi ikandika ibimenyetso by'amashanyarazi mu bwonko bw'umwana wawe. Mu gihe cyo gusuzuma EEG, umutekinisiye ashyira uduce duto tw'icyuma (electrodes) ku mutwe w'umwana wawe. Utwo dukoresho duhujwe n'imashini iha muganga amakuru yerekeye imikorere y'ubwonko bw'umwana wawe.

Kugira ngo bemeze ko indwara yagaragaye, abaganga bakoresha inyigo za ADN, nko gusesengura chromosomes n'isesengura ryihariye ry'impinduka mu ngirabuzimafatizo, kugira ngo bamenye impinduka mu ngirabuzimafatizo zitera lissencephaly.

Indwara ya Lissencephaly ivurwa ite?

Mu by’ukuri, nta muti cyangwa uburyo bwo kuvura indwara ya lissencephaly buhari . Ahubwo abaganga bavura ibimenyetso byihariye bya buri mwana ufite lissencephaly.

Ubu buryo bwo kuvura bushobora gusaba imbaraga zihuriweho n'itsinda ry'inzobere zitandukanye, harimo:

• Abaganga b'abana
• Abaganga b'indwara z'imitsi
• Inzobere mu by’igifu (inzobere mu bijyanye n’igogora)
• Abahanga mu by'imirire
• Abavuzi b'indwara z'ubuhumekero
• Abavuzi b'inzobere mu by'ubuzima n'imitsi

Abantu nk'abo bashobora kuba barimo.

Uburyo busanzwe bwo kuvura:

• Uburyo bwo korohereza abana bafite ibibazo byo kurya kubona intungamubiri: urugero, kugaburira mu gifu binyuze mu muyoboro (`gastrostomy tube' - G-tube') cyangwa kuvura no kuvuga no kumira (`speak and milling therapy').
• Imiti igabanya ubukana bw'indwara zo mu mutwe: Imiti itangwa kugira ngo igabanye ubukana bw'indwara zo mu mutwe.
• Ubuvuzi bw'umubiri n'ubw'akazi kugira ngo bufashe mu iterambere ry'imitsi no gukomeza imitsi: Ibintu nk'imyitozo ngororamubiri ifasha mu gukomera no gukora imyitozo ngororamubiri.
• Gushyira ventriculoperitoneal (VP) shunt kugira ngo igenzure hydrocephalus: Kubagwa gato kugira ngo bigabanye ukwiyongera kw'amazi mu bwonko.

Niba umwana wawe afite lissencephaly, muganga wawe ashobora kukugira inama yo kumugira inama mu bijyanye n'imiterere y'umubiri.Bivuga kuri.

Ni iki giteganyijwe ku mwana urwaye lissencephaly?

Uko umwana urwaye lissencephaly ahagaze biratandukanye cyane bitewe n'uburemere bw'indwara ndetse niba ifitanye isano n'izindi ndwara . Abana benshi barwaye lissencephaly bashobora kuguma mu byiciro byabo by'imikurire. Ibi bivuze ko bashobora kudashobora gukora ibintu byinshi bonyine.

Ariko, hari abana bashobora gukura neza bafite itandukaniro rito mu myigire, bityo ntugacike intege.

Uburyo bwo kuvura hakiri kare kandi bukomeza bushobora gufasha cyane abana bamwe. Ubu buryo burimo:

• Ubuvuzi bw'umubiri
• Ubuvuzi bw'akazi
• Ubuvuzi bw'imivugire
• Ubuvuzi bwo kureba

Ibintu nk'ibi bishobora kuba birimo.

Abana benshi barwaye lissencephaly bagomba gufata imiti ya buri munsi kugira ngo birinde igicuri no kuvura izindi ngorane.

Icyizere cy'ubuzima bw'umwana urwaye lissencephaly ni ikihe?

Impuzandengo y'ubuzima bw'umwana urwaye lissencephaly ni ngufi. Abana benshi bapfa mbere y'imyaka 10. Impamvu nyamukuru zitera urupfu mu barwaye lissencephaly ni indwara zo guhumeka n'iz'ubuhumekero.

Ni iki nkwiye kwitega mu gihe umwana wanjye afite `Lissencephaly`? / Ni gute nakwita ku mwana wanjye?

Ikintu cy'ingenzi ugomba kwibuka ni uko nta bana babiri bafite lissencephaly bagerwaho n'ingaruka zimwe. Nta muntu ushobora guhanura neza uko umwana wawe azagerwaho n'ingaruka. Ikintu cyiza wakora kugira ngo witegure ahazaza ni ukuganira n'abaganga b'inzobere mu gukora ubushakashatsi no kuvura lissencephaly.

Kugira ngo ufashe umwana wawe ufite lissencephaly kwita ku mwana wawe, kurikiza amabwiriza ya muganga neza:

• Tanga imiti yose uko byategetswe.
• Kora isuzuma ry'iterambere n'ubuvuzi neza.
• Menya neza ko witabira ubuvuzi bwose bukurikira.

Lissencephaly ishobora gutera ibibazo byo mu mutwe, ubwonko, cyangwa ibibazo byo mu mutwe. Abana benshi barwaye lissencephaly bagira ibibazo byo gukura nabi kandi bashobora gukenera ubufasha mu bikorwa bya buri munsi mu buzima bwabo bwose.

Itsinda ry'abaganga b'umwana wawe rishobora gusubiza ibibazo byawe no kuguha ubufasha. Bashobora kandi kukubwira itsinda ry'abaterankunga riboneka mu gace utuyemo cyangwa kuri interineti.

Ese Lissencephaly ishobora kwirindwa?

Ikibabaje ni uko inyinshi mu ndwara ya lissencephaly zidashobora kwirindwa. Niba uteganya kubyara umwana,Vugana na muganga wawe ku bijyanye no gupima imiterere y’uturemangingo. Ibi bizagufasha gusobanukirwa ibyago byo kuba umwana wawe yagira indwara y’uturemangingo nka lissencephaly cyangwa indwara ishobora guterwa n’impinduka mu miterere y’uturemangingo.

Ni ryari nkwiye kujya kwa muganga ku bijyanye na 'Lissencephaly'?

Niba umwana wawe yarasanzwe arwaye indwara ya lissencephaly, agomba guhura n'ikipe ye y'abaganga buri gihe kugira ngo barebe niba uburyo avurwa bukora neza n'uko iterambere rye riri kugenda.

Gusobanukirwa indwara ya Lissencephaly y'umwana wawe bishobora kugorana. Itsinda ry'abaganga rizaguha gahunda ihamye yo kuvura ijyanye n'ibimenyetso by'umwana wawe. Ikintu cy'ingenzi ni ukumenya neza ko umwana wawe ahabwa urukundo n'ubufasha akeneye mu buzima bwe bwose, no kumenya ibimenyetso bishya bishobora kuvuka.

Ni ubuhe butumwa twifuza kujyana muri iyi nkuru?

Lissencephaly ni indwara idasanzwe kandi igoye ibaho mu gihe ubwonko bw'umwana buri gukura. Muri iyi ndwara, imikurire n'imirongo bisanzwe (gyri na sulci) mu bwonko ntibikora neza, bigatuma isura "igenda neza".

• Ibi bishobora guterwa n'ibintu bikomoka ku ngirabuzimafatizo, ndetse na gake cyane, ibintu bitari ibya ngirabuzimafatizo .
• Ibimenyetso bishobora gutandukana cyane bitewe n'umwana. Indwara y'igicuri, gutinda gukura, no kugorwa no kugaburira ni ibintu bisanzwe.
• Nubwo nta muti wuzuye uhari, hari uburyo butandukanye bwo kuvura no kuvura kugira ngo hagenzurwe ibimenyetso no kunoza ubuzima bw'umwana .
• Igikuru ni ukubimenya hakiri kare, gukora uko ushoboye ukurikije inama z'abaganga, no guha umwana urukundo n'ubufasha akeneye .
• Niba ufite ibindi bibazo kuri ibi, ntutinye kuvugana na muganga wawe. Bishobora kandi kuba ingirakamaro cyane kwinjira mu matsinda y'ubufasha hamwe n'abandi babyeyi bafite abana nk'aba no gusangira ubunararibonye.

Wibuke ko utari wenyine. Hari abaganga, abavuzi, n'abandi benshi bashobora kugufasha muri uru rugendo.

` Lissencephaly, ubwonko bworoshye, ubumuga bw'ubwonko, iterambere ry'umwana uri mu nda, impinduka mu ngirabuzimafatizo, gutinda mu mikurire, igicuri