Obwongo bw'omwana wo "buweweevu"? Ka twogere ku bulwadde bwa Lissencephaly!

Wali owuliddeko omwana azaalibwa nga "bwongo obuseeneekerevu"? Oyinza okuba nga watya katono ng’owulira ebigambo bino. Leero, ka twogere mu ngeri ennyangu ku mbeera eno eyitibwa `Lissencephaly` kyeri ddala, lwaki ebaawo, n'engeri gy'ekwatamu omwana. Wadde guno mulamwa muzibu katono, nja kugunnyonnyola mu ngeri gy’osobola okutegeera.

`Obulwadde bwa Lissencephaly` kye ki?

Mu ngeri ennyangu, `Lissencephaly` kitegeeza ``obwongo obuseeneekerevu.`` Kino kizibu kya bwongo ekitali kya bulijjo nnyo era eky'amaanyi. Bukula ng’omwana akyali mu lubuto.

Lowooza ku kino, obwongo bwaffe bulinga entangawuuzi, si bwe kiri? Kirina ebizimba bingi (gyri) n’ebisenge (sulci). Ebifo bino ebikutte n’ebifo ebiyitibwa grooves bikulu nnyo. Ziyawula ebitundu by’obwongo eby’enjawulo, era zongera ku buwanvu bw’obwongo, ekituyamba okukulaakulanya amagezi n’obusobozi bwaffe obw’okulowooza.

Kati, mu mwana alina `Lissencephaly`, bino `gyri` ne `sulci` tebikula bulungi mu bwongo. Olwo obwongo ne bulabika nga buweweevu nnyo. Nga olubaawo oluseeneekerevu. Eno y'ensonga lwaki kiyitibwa "obwongo obuseeneekerevu" .

Obulwadde bwa Lissencephaly busobola okujja mu ngeri nnyingi. Waliwo ebika ebikulu ebisukka mu 20. Naye emirundi egisinga bino byawulwamu ebika bibiri ebikulu:

• Obulwadde bwa lissencephaly obwa classic (Ekika 1) .
• Obulwadde bwa cobblestone lissencephaly (Ekika 2 ) .

Wadde ng’obubonero bw’ebibinja byombi bufaanagana, enkyukakyuka mu buzaale ezibuleeta eyinza okwawukana.

Oluusi `Lissencephaly` ebaawo yokka, kwe kugamba, awatali bubonero bulala. Kino tukiyita `isolated lissencephaly`. Ebiseera ebirala, kiyinza okubaawo awamu n‟embeera endala (`syndromes`) nga `Miller-Dieker syndrome` oba `Walker-Warburg syndrome`.

Abaana abalina obulwadde bwa lissencephaly batera okulwawo ennyo mu nkula n'obulemu ku bwongo . Kyokka kino kyawukana okusinziira ku mwana okusinziira ku buzibu bw’embeera.

Ani afuna obulwadde bwa Lissencephaly? Kitera kitya?

Obulwadde bwa Lissencephaly bukosa abaana abazaalibwa nga bakula . Butera okubeera wakati wa wiiki 12 ne 24 ng’oli lubuto. Kisinga kuva ku nkyukakyuka mu buzaale. Kyokka era kiyinza okuva ku bintu ebitali bya buzaale.

Eno mbeera ya bbula nnyo . Okusinziira ku banoonyereza, ku baana 100,000, omu yekka y’azaalibwa n’obulwadde bwa Lissencephaly. Kale kino tokitya, naye kirungi okukimanya.

Bubonero ki obw’omwana alina obulwadde bwa lissencephaly?

Obubonero bw’obulwadde bwa lissencephaly bwawukana nnyo. Kisinziira ddala ku buzibu bw’embeera eno n’okumanya oba ekwatagana n’embeera endala ez’obujjanjabi. Abaana abamu bayinza okukula mu ngeri eya bulijjo nga balina obulemu obutonotono mu kuyiga. So ng’ate abalala bayinza okuba n’obubonero obw’amaanyi ennyo. Obuzibu bw’obubonero buno nabwo bwawukana nnyo.

N’olwekyo, kikulu nnyo okwogera n’omusawo wo ku ky’osuubira okusinziira ku kika ky’obulwadde bwa lissencephaly omwana wo bw’alina.

Obumu ku bubonero bwa `Lissencephaly` bwe buno:

• Okukonziba: Abaana mwenda ku buli kkumi abalina obulwadde bwa lissencephaly bafuna obulwadde bw’okusannyalala mu mwaka ogusooka ogw’obulamu bwabwe. Kano ke kabonero akasinga okulabika.
• Okukaluubirirwa okumira (dysphagia) n’okulya: Omwana ayinza okukaluubirirwa okuyonka n’okumira emmere.
• Okulwawo okukula: Omwana ayinza obutakula nga bwe kisuubirwa ku myaka gye. Ebintu ng’okumwenya, okukwata omutwe waggulu, okwekulukuunya n’okutuula biyinza okulwawo.
• Obulemu ku bwongo n‟enjawulo mu kuyiga: Enkula y‟amagezi eyinza okukosebwa.
• Okusannyalala kw’ebinywa: Okusannyalala kw’ebinywa n’okunyiganyiga biyinza okubaawo.
• Ensonga ezikwata ku nkola y’enkola y’eby’omwoyo: Wayinza okubaawo obuzibu mu kukwatagana kw’emikono n’amaaso, okutambula, n’okukwata ebintu.
• Okulemererwa okukula obulungi: Enkula y’omwana mu mubiri eyinza okulwawo ennyo. Bayinza obutagejja era bayinza okusigala nga bagonvu.
• Omutwe omutono okusinga ogwa bulijjo (microcephaly): Omutwe guyinza okuba omutono okusinga ogwa bulijjo okusinziira ku myaka.
• Enjawulo mu bitundu by’omubiri ebizaalibwa: Oyinza okuzaalibwa ng’olina enjawulo ezimu mu ngalo, engalo n’ebigere.

Lwaki `Lissencephaly` ebaawo? Biki ebivaako?

Obulwadde bwa Lissencephaly buyinza okuva ku nsonga z’obuzaale n’ezitali za buzaale. Businga kubeera mu lubuto, wakati wa wiiki 12 ne 24 ng’oli lubuto.

Mu ngeri ennyangu, bino ebivaako biva ku kutambula kw’obusimu obuyitibwa neuronal migration mu kitundu eky’ebweru eky’obwongo bw’omwana (neuronal cells). Lowooza ku kino, ekitundu ky’obwongo bwaffe ekivunaanyizibwa ku kutambula n’okulowooza mu kutegeera kiyitibwa cerebral cortex. Ebiseera ebisinga kiba n’ebizimba ebiwanvu (gyri) n’ebisenge ebiwanvu (sulci), nedda?

Obwongo bw’omwana bwe bukula mu lubuto, obutoffaali obupya butondebwawo, oluvannyuma ne bufuuka obutoffaali obw’enjawulo obw’obusimu ne bugenda waggulu ku bwongo bw’omwana. Kino kiyitibwa `okutambula kw'obusimu`. Mu ngeri eno, layeri z’obutoffaali eziwerako zikolebwa. Layer zino zikola `gyri` (ebizimba).

Naye mu mbeera ya `Lissencephaly`, obutoffaali buno tebugenda we bwetaaga kugenda. Olwo `cerebral cortex` y`omwana tekola layers za butoffaali zimala. Olw’ensonga eno, `gyri` (ebifo) ebyo bibula oba tebikulaakulana.

Ebivaako ebitali bya buzaale

Wadde nga tezitera kubaawo, ebivaako ebitali bya buzaale nabyo bisobola okuvaako obulwadde bwa lissencephaly.

• Obulwadde bw’akawuka mu maama ali olubuto oba omwana ali mu lubuto: Obulwadde obumu obw’akawuka naddala mu myezi esatu egy’olubuto egisooka (wiiki esooka okutuuka ku kkumi n’ebiri), busobola okukosa omwana ali mu lubuto.
• Okukendeera kw’omusaayi ogulimu omukka gwa oxygen mu bwongo bw’omwana (ischemia): Embeera eno esobola okubaawo singa obungi bwa oxygen obwongo bwe bufuna bukendeera ng’omwana akula mu lubuto.

Ebivaako obuzaale

Obulwadde bwa Lissencephaly businga kuva ku nkyukakyuka mu buzaale . Enkyukakyuka mu buzaale y’enkyukakyuka mu nsengeka ya DNA yaffe. Omanyi ensengekera ya DNA yaffe y’ewa obutoffaali bwaffe amawulire ge bwetaaga okukola emirimu gyabwo. Kale singa ekitundu ky’omutendera guno ogwa DNA kiba tekituukiridde oba nga kyonoonese, obubonero bw’embeera y’obuzaale buyinza okubaawo.

Omwana asobola okusikira enkyukakyuka eno ey’obuzaale okuva ku muzadde omu oba bombi. Kisinziira ku ngeri enkyukakyuka mu buzaale gy’esikira. Naye oluusi enkyukakyuka zino mu buzaale zisobola okubaawo `mu ngeri ey'ekifuulannenge`, nga tewali muntu yenna mu maka yali abadde na mbeera eno emabegako.

Bannasayansi bazudde obuzaale obuwerako obuyinza okuvaako obulwadde bwa lissencephaly. Ebimu ku byo bye bino:

• `LIS1` (`PAFAH1B1`) gene: Enkyukakyuka (`mutation`) oba okufiirwa ekitundu (`deletion`) eky'obuzaale buno kikwatagana ne `isolated lissencephaly` awamu ne `Miller-Dieker syndrome`.
• `DCX` gene: Eno ye gene eri ku `X` chromosome. Nga bw’omanyi, abasajja balina chromosome emu eya `X` ne chromosome emu eya `Y`. N’olwekyo, abalongo abasajja batera okulwala `Lissencephaly` olw’enkyukakyuka eno mu buzaale. Okuva abalongo abakazi bwe batera okuba n’ensengekera z’obutonde bbiri eza `X`, ne bwe bafuna embeera eno, obubonero butera obutaba bwa maanyi nnyo.
• `ARX` gene: Abalongo abalina enkyukakyuka mu gene eno balina `Lissencephaly` wamu n'obubonero obulala. Okugeza, obutabaawo bitundu bya bwongo (`agenesis of the corpus callosum`), obutabeera bwa bulijjo mu bitundu by’ekyama, n’okusannyalala okw’amaanyi. Ensengekera y’obutonde ya `ARX` nayo eri ku nsengekera ya `X`. N’olwekyo, abalongo abasajja be basinga okukosebwa.
• `RELN` gene: Enkyukakyuka mu gene eno ereeta embeera eyitibwa `Norman-Roberts syndrome`, nga nayo erimu `Lissencephaly`.

Obulwadde bwa Lissencephaly buzuulibwa butya?

Oluusi, abasawo bayinza okuteebereza obulwadde bwa lissencephaly nga bali lubuto singa omuntu mu maka abadde n’embeera eno emabegako, oba singa okukeberebwa ultrasound nga oli lubuto kireeta okweraliikirira. Mu mbeera eyo, esobola okuzuulibwa ng’oyita mu kukeberebwa okw’enjawulo ng’oli lubuto, gamba ng’okukebera obwongo bw’omwana mu lubuto, n’okukebera obwongo bw’omwana mu lubuto (fetal magnetic resonance imaging (MRI).

Bwe kitaba ekyo, abasawo batera okuzuula obulwadde bwa `Lissencephaly` ng’omwana amaze okuzaalibwa, nga bayita mu kukebera omubiri gw’omwana n’okukebera omutwe mu bifaananyi.

Nga bakozesa ebigezo bino eby’okukuba ebifaananyi, abasawo batunuulira okulaba oba `sulci` (grooves) ne `gyri` (folds) ku ngulu w’obwongo bw’omwana teziriiwo oba zikendedde, era oba `cerebral cortex` (cerebral cortex) egonvu.

Bikebere ki ebikozesebwa okuzuula `Lissencephaly`?

Singa omusawo ateebereza nti olina obulwadde bwa lissencephaly, okusinziira ku byafaayo by’amaka go oba ebyava mu kukeberebwa mu ddoboozi ery’omwanguka ng’oli lubuto, ayinza okukuwa amagezi okukeberebwa okw’enjawulo okuwerako ng’oli lubuto. Mu bino mulimu:

• Okukebera DNA y’omwana atali mu butoffaali: Kino kizingiramu okwawula DNA ya maama n’ey’omwana mu lubuto okuva mu sampuli y’omusaayi gwa maama. Olwo DNA eno ekeberebwa mu laboratory okulaba oba waliwo emikisa mingi egy’obuzibu bwonna mu chromosome.
• Amniocentesis: Kino kigezo ekitera okukolebwa mu kiseera ky’olubuto olw’okubiri oba olw’okusatu. Mu kukebera kuno, omusawo akozesa empiso ennyimpi okuggya amazzi amatono ag’omu lubuto mu nsawo y’omu lubuto eyeetoolodde omwana. Olwo sampuli eno ey’amazzi ekeberebwa mu laboratory. Amniocentesis esobola okuzuula embeera z’obuzaale n’enkyukakyuka ezireeta embeera nga lissencephaly.
• Chorionic villus sampling (CVS): Mu kukebera kuno, omusawo aggya sampuli y’ebitundu ebiyitibwa chorionic villi okuva mu nnabaana yo. Sampuli eno esobola okutwalibwa oba okuyita mu nnabaana (transcervical) oba okuyita mu bbugwe w’olubuto (transabdominal). Chorionic villi buba butonotono obulabika ng’engalo ku nnabaana. Zirimu obuzaale bw’omwana yennyini. Okukebera kuno okwa CVS kusobola okuzuula oba omwana alina embeera ya chromosomal oba embeera endala ey’obuzaale.

Abasawo bakozesa ebikebera ebifaananyi nga bino okuzuula obulwadde bwa lissencephaly ng’omwana amaze okuzaalibwa:

• Head ultrasound: Ultrasound kye kigezo ekitali kya kuyingirira bifaananyi nga kikozesa amayengo g’amaloboozi aga frequency enkulu okukola ebifaananyi oba vidiyo mu kiseera ekituufu ez’ebitundu by’omubiri eby’omunda, gamba ng’obwongo.
• Okukebera omutwe mu kompyuta (CT scan):CT scan kwe kukebera okukozesa kompyuta ne X-rays okukola ebifaananyi bingi eby’ebitundu bisatu (3D) eby’ekitundu ky’omubiri ekikeberebwa, mu mbeera eno omutwe n’obwongo bw’omwana wo.
• Magnetic resonance imaging (MRI) brain scan: MRI scan kye kigezo ekitaliimu bulumi ekivaamu ebifaananyi ebitegeerekeka obulungi ennyo eby’ebizimbe n’ebitundu ebiri mu bwongo bw’omwana wo. MRI ekozesa magineeti ennene, amayengo ga leediyo, ne kompyuta okukola ebifaananyi bino ebikwata ku nsonga eno mu bujjuvu. Tekozesa X-rays.

Omusawo wo ayinza n’okulagira omwana wo okukeberebwa EEG (Electroencephalogram). EEG epima era n’ewandiika obubonero bw’amasannyalaze mu bwongo bw’omwana wo. Mu kiseera ky’okukola EEG, omukugu ateeka obupande obutonotono obw’ebyuma (electrodes) ku mutwe gw’omwana wo. Electrodes zino ziyungibwa ku kyuma ekiwa omusawo amawulire agakwata ku mirimu gy’obwongo bw’omwana wo.

Okukakasa okuzuula obulwadde buno, abasawo bakozesa okunoonyereza ku DNA, gamba ng’okwekenneenya ensengekera y’obutonde (chromosomal analysis) n’okwekenneenya enkyukakyuka mu buzaale (specific gene mutational analysis), okuzuula enkyukakyuka mu buzaale evunaanyizibwa ku bulwadde bwa lissencephaly.

Obulwadde bwa Lissencephaly bujjanjabwa butya?

Mu butuufu, mu kiseera kino tewali ddagala oba bujjanjabi bwa lissencephaly. Mu kifo ky’ekyo, abasawo bajjanjaba obubonero obw’enjawulo obwa buli mwana alina obulwadde bwa lissencephaly.

Obujjanjabi buno buyinza okwetaagisa okufuba okukwatagana okwa ttiimu y’abakugu ab’enjawulo, omuli:

• Abasawo b’abaana
• Abakugu mu by’obusimu
• Abakugu mu by’omu lubuto (abakugu mu nkola y’okugaaya emmere) .
• Abakugu mu by’endya
• Abajjanjabi b’okussa
• Abasawo abajjanjaba emirimu n’omubiri

Abantu ng’abo basobola okuzingirwamu.

Enzijanjaba eza bulijjo:

• Enkola ez’okwanguyiza abaana abalina obuzibu mu kulya okufuna ebiriisa: okugeza, okuliisa nga bayita mu ttanka mu lubuto (`gastrostomy tube' - G-tube') ne/oba obujjanjabi bw’okwogera n’okumira (`obujjanjabi bw’okwogera n’okumira’).
• Eddagala eriziyiza okukonziba: Eddagala eriweebwa okufuga okukonziba.
• Obujjanjabi bw’emirimu n’omubiri okuyamba mu nkula y’enkola y’emirimu n’okunyweza ebinywa: Ebintu nga dduyiro okuyamba mu maanyi g’omubiri n’entambula.
• Okuteeka ventriculoperitoneal (VP) shunt okufuga hydrocephalus: Okulongoosa okutono okukendeeza ku kukuŋŋaanyizibwa kw’amazzi ag’enjawulo mu bwongo.

Singa omwana wo alina obulwadde bwa lissencephaly, omusawo wo ajja kukuwa amagezi okubudaabudibwa ku buzaale.Ategeeza.

Omwana alina obulwadde bwa lissencephaly agenda kuteebereza ki?

Endowooza y'omwana alina obulwadde bwa lissencephaly ya njawulo nnyo okusinziira ku buzibu bw'embeera eno n'okumanya oba ekwatagana n'embeera endala ez'obujjanjabi . Abaana bangi abalina obulwadde bwa lissencephaly bayinza okusigala nga bali mu ntandikwa y’okukula. Kino kitegeeza nti bayinza obutasobola kukola bintu bingi ku lwabwe.

Kyokka abaana abamu bayinza okukula mu ngeri eya bulijjo nga balina enjawulo entonotono mu kuyiga, n’olwekyo toggwaamu ssuubi.

Obujjanjabi obusooka, obutasalako buyinza okuyamba ennyo abaana abamu. Enzijanjaba zino mulimu:

• Obujjanjabi bw’omubiri
• Obujjanjabi bw’emirimu
• Obujjanjabi bw’okwogera
• Obujjanjabi bw’okulaba

Ebintu nga bino biyinza okuzingirwamu.

Abaana bangi abalina obulwadde bwa lissencephaly balina okumira eddagala buli lunaku okuziyiza okusannyalala n’okujjanjaba ebizibu ebirala.

Omwana alina obulwadde bwa lissencephaly awangaala ki?

Obulamu bw’omwana alina obulwadde bwa lissencephaly buba bumpi nnyo. Abaana abasinga bafa nga tebannaweza myaka 10. Ebisinga okutta abantu abalina obulwadde bwa lissencephaly be ba aspiration n’obulwadde bw’okussa .

Kiki kye nsuubira singa omwana wange alina obulwadde bwa `Lissencephaly`? / Nlabirira ntya omwana wange?

Ekisinga obukulu okujjukira nti tewali baana babiri abalina obulwadde bwa lissencephaly bakosebwa mu ngeri y’emu. Tewali asobola kuteebereza bulungi ngeri mwana wo gy’anaakosebwamu. Ekisinga obulungi ky’oyinza okukola okwetegekera ebiseera eby’omu maaso kwe kwogera n’abasawo abakuguse mu kunoonyereza n’okujjanjaba obulwadde bwa lissencephaly.

Okuyamba okulabirira omwana wo alina obulwadde bwa lissencephaly, goberera ddala ebiragiro by’omusawo:

• Eddagala lyonna liwe nga bwe liragiddwa.
• Kola okwekenneenya enkulaakulana n‟obujjanjabi mu butuufu.
• Kakasa nti ogenda mu kulambula kwonna okw’abasawo okugoberera.

Obulwadde bwa Lissencephaly buyinza okuleeta obuzibu mu kutegeera, mu busimu, ne/oba mu ntambula y’ebirowoozo. Abaana bangi abalina obulwadde bwa lissencephaly balwawo okukula era bayinza okwetaaga obuyambi mu mirimu gya buli lunaku obulamu bwabwe bwonna.

Ttiimu y’abasawo b’omwana wo esobola okuddamu ebibuuzo byo n’okukuwa obuyambi. Era bayinza okukubuulira ku kibiina ekiwagira ekisangibwa mu kitundu kyo oba ku yintaneeti.

Obulwadde bwa Lissencephaly busobola okuziyizibwa?

Ebyembi, emisango egisinga egy’obulwadde bwa lissencephaly tegisobola kuziyizibwa. Bw’oba ​​oteekateeka okuzaala omwana, .Yogerako n’omusawo wo ku kukebera obuzaale. Kino kijja kukuyamba okutegeera akabi k’omwana wo okubeera n’embeera y’obuzaale nga lissencephaly oba embeera eyinza okuva ku nkyukakyuka y’obuzaale ey’obuzaale.

Ddi lwe nsaana okulaba omusawo ku `Lissencephaly`?

Omwana wo bw’aba azuuliddwa ng’alina obulwadde bwa lissencephaly, alina okusisinkana ttiimu yaabwe ey’abasawo buli kiseera okulaba oba obujjanjabi bwe bukola bulungi n’engeri enkula ye gy’egenda mu maaso.

Okutegeera engeri omwana wo gy’azuuliddwamu obulwadde bwa Lissencephaly kiyinza okuba omulimu omuzibu. Ttiimu yo ey’abasawo ejja kukuwa enteekateeka ennywevu ey’obujjanjabi ekwata ku bubonero bw’omwana wo. Ekisinga obukulu kwe kulaba ng’omwana wo afuna omukwano n’obuwagizi bwe yeetaaga mu bulamu bwe bwonna, n’okumanya obubonero bwonna obupya obuyinza okuvaamu.

Bubaka ki bwe twagala okutwala awaka okuva mu mboozi eno?

Lissencephaly mbeera etatera kulabika era nzibu era ebeerawo ng’obwongo bw’omwana akula. Mu mbeera eno, ebizimba n'ebisenge ebya bulijjo (gyri ne sulci) mu bwongo tebikola bulungi, ekivaamu okulabika "okuseeneekerevu".

• Kino kiyinza okuva ku nsonga z’obuzaale, awamu n’ensonga ezitali za buzaale .
• Obubonero buyinza okwawukana ennyo okusinziira ku mwana. Obulwadde bw’okusannyalala, okulwawo okukula, n’okukaluubirirwa mu kuliisa bitera okubaawo.
• Wadde nga tewali ddagala lyonna eriwonya kino, waliwo obujjanjabi n’obujjanjabi obw’enjawulo okufuga obubonero n’okutumbula omutindo gw’obulamu bw’omwana .
• Ekisinga obukulu kwe kukitegeera nga bukyali, okukola okusinziira ku magezi g’abasawo, n’okuwa omwana omukwano n’obuwagizi bye yeetaaga .
• Bw’oba ​​olina ekibuuzo ekirala kyonna ku nsonga eno, totya kwogera na musawo wo. Era kiyinza okuyamba ennyo okwegatta ku bibiina ebiwagira n‟abazadde abalala ab‟abaana nga bano n‟okugabana ku by‟ayitamu.

Jjukira nti toli wekka. Waliwo abasawo, abajjanjabi n’abalala bangi abasobola okukuyamba mu lugendo luno.

` Lissencephaly, obwongo obugonvu, obwongo obutakola bulungi, enkula y’omwana ali mu lubuto, enkyukakyuka mu buzaale, okulwawo okukula, okusannyalala