Ingabe ingane yakho ingathinteka yilesi simo esingavamile? Ake sifunde nge-Aicardi Syndrome!

Bomama nobaba, ngezinye izikhathi kungaba nzima ukucabanga ngezifo izingane zethu ezihlushwa yizo, akunjalo? Ikakhulukazi uma kuyisimo esingavamile ongasizwa ngaso njalo. Namuhla sizokhuluma ngesinye salezo zimo. Sibizwa ngokuthi i-Aicardi Syndrome . Lesi yisimo esingavamile kakhulu esenzeka ekuzalweni futhi sithinta ubuchopho namehlo engane. Ungase wesabe kancane uma uzwa leli gama, kodwa ake sixoxe ngalo ngokuningiliziwe nangokulula.

Iyini i-Aicardi Syndrome?

Kalula nje, i-Aicardi Syndrome yisimo lapho umntwana ezalwa enezinguquko ezithile emzimbeni wakhe, ikakhulukazi ubuchopho bakhe namehlo. Lesi yisimo esingavamile kakhulu. Odokotela bathola izimpawu ezintathu eziyinhloko kulesi simo. Ake sibone ukuthi ziyini.

1. Ukwakheka kwe-corpus callosum: Kukhona ingxenye ebalulekile yobuchopho bethu esebenza njengebhuloho elixhumanisa izinhlangothi zobuchopho zesobunxele nesokudla. Ibizwa ngokuthi i-corpus callosum. Ezinganeni ezinalesi simo, le ngxenye ayikakhiwa ngokugcwele, noma yakheke kancane nje. Lokhu kungaphazamisa ukushintshana kolwazi phakathi kwezinhlangothi zombili zobuchopho.

2. Iphutha lenzwa yokubona noma ukuntuleka kwezicubu ngemuva kweso (i-retina) (i-Coloboma noma ama-lacuna e-chorioretinal): Lokhu kwenzeka lapho kukhona iphutha emthanjeni wokubona weso lengane (okungukuthi igebe elibangelwa ukuthi iso alikhi kahle ngesikhathi sesigaba sombungu - yilokho okubizwa ngokuthi `(i-Coloboma)`). Noma kukhona ukuntuleka kwezinye izingxenye ze-retina, izicubu ezibucayi ngemuva kweso ezithumela lokho esikubonayo ebuchosheni (`(ama-lacuna e-Chorioretinal)`). Lokhu kungabangela ukukhubazeka kokubona.

3. Ukuquleka: Laba bantwana bangase babe nokuquleka kwezinsana, okuqala ebuntwaneni . Lesi yisimo esibangelwa ukungajwayelekile emsebenzini kagesi wobuchopho. Lokhu kuquleka kungaqhubeka futhi kukhule kube yisifo sokuwa esiphindaphindayo.

Lesi yisimo esisongela impilo. Kwezinye izimo ezinzima, isikhathi sokuphila kwengane singathinteka. Kodwa kumelwe sikhumbule ukuthi akuzona zonke izimo ezimbi kakhulu . Nakuba ingane yakho ingase ibe nesikhathi sokuphila esifushane kunezinye izingane, ingane yakho isengadlala, ihleke, futhi ijabulele ubuntwana bayo. Udokotela wakho uzokutshela ukuthi yini ongayilindela ngokusekelwe esimweni sengane yakho. Ngoba, njengayo yonke ingane, isimo sengane ngayinye sihlukile.

Ngenxa yokuthi laba bantwana bazodinga ukunakekelwa kwezokwelapha kanye nokusekelwa impilo yabo yonke, bazoba nobuhlobo obuseduze kakhulu nodokotela babo. Kukhona nezinsiza eziningi kanye nezeluleko kubazali nabanakekeli ukuze babasize babhekane nezidingo zezingane zabo njengoba zikhula.

Ziyini izimpawu ze-Aicardi Syndrome?

I-Aicardi Syndrome ingathinta izingxenye ezahlukene zomzimba wengane. Ngokuyinhloko:

• Ebuchosheni
• Kwamehlo
• Ukuthuthukiswa ngokomzimba

Ake sibheke ngayinye yalezi ngemininingwane ethe xaxa.

Izici ezihlobene nobuchopho

Kunezimpawu eziningana ezingathinta ubuchopho bengane ngenxa yalesi simo:

• Njengoba kushiwo ngaphambili , i-corpus callosum ayisebenzi kahle .
• Ukuquleka , okungukuthi, isithuthwane.
• Ukungalingani kobuchopho - Lokhu kusho ukuthi ubukhulu noma ukuma kwezinhlangothi ezimbili zobuchopho akufani.
• Ukungajwayelekile (ngobukhulu noma ngenani) kwezimila zobuchopho noma amaqhubu.
• Ama-cyst obuchopho.
• Ukwanda kwemigodi (ama-ventricle) yobuchopho egcwele uketshezi.
• Amaseli emizwa ahlangana ezindaweni ezingavamile (`(Heterotopia)`).

Esinye sezibonakaliso zokuqala zalesi simo kungaba ukuxhuzula, okuqala lapho umntwana enezinyanga ezimbalwa ubudala. Lokhu kungase kubonakale njengokuxhuzula kosana . Ungase uzizwe sengathi umzimba wonke wengane yakho uyagxumagxuma futhi uthuthumela ngokuzumayo. Lokhu kuxhuzula kungenzeka izikhathi eziningana ngosuku futhi kungaba kubi kakhulu ngokuhamba kwesikhathi.

Ngaphezu kwalokho, ungase uqaphele ukuthi ingane yakho yephuze ukufinyelela izigaba zokukhula ezifanele iminyaka yayo. Isibonelo, ingase yephuze ukuqala ukuhamba noma ukukhuluma amagama ayo okuqala. Ukukhubazeka kwengqondo kuvamile kulesi simo. Kungaba kusukela kokuncane kuya kokubi kakhulu.

Izimpawu ezihlobene namehlo

Izimpawu ze-Aicardi Syndrome ezithinta amehlo engane zifaka:

• Iphutha emsipheni we-optic (`(Coloboma)`).
• Ukuncipha kwezicubu ze-retinal (ama-lacunae e-Chorioretinal).
• Amehlo amancane noma angakakhuli kahle (i-Microphthalmia).

Ezimweni ezingembi kangako, kungase kube nezinkinga zokubona ezidinga izibuko nokuhlolwa kwamehlo njalo. Kodwa-ke, uma kukhona izinkinga ezinkulu zamehlo, ubumpumputhe bungase buvele.

Izici ezihlobene nokukhula ngokomzimba

I-Aicardi Syndrome ingathinta indlela ezinye izingxenye zomzimba wengane ezikhula ngayo. Lokhu kungabangela izimpawu zomzimba ezifana nalezi:

• Ubuthakathaka bemisipha, ukuxhuga, kanye nokulahlekelwa ukuhambisana (`(Hypotonia)`). Kungazwakala njengonodoli werabha.
• Ikhanda elincane (i-Microcephaly).
• Ukukhubazeka emgogodleni nasezimbanjeni, okungabangela i-scoliosis.
• Izindlebe ezikhulisiwe.
• Ukufinyezwa kwesikhala esiphakathi kodebe oluphezulu nekhala (i-philtrum).
• Izandla ezincane noma ezikhubazekile.
• Ukuncishiswa kwezinkophe.

Izingane zingase zibe nobunzima bokuhlala, ukubambelela kokuthile, noma ukuhamba. Ingane yakho ingase ibe nesinye noma ngaphezulu sezimpawu kulolu hlu, kodwa hhayi zonke.

Izimpawu zesisu nazo zingavela ngalesi simo. Isibonelo:

• Ubunzima bokudla (kwabantwana abancane), ngezinye izikhathi bukhulu kangangokuthi ukuncelisa ngepayipi kuyadingeka.
• Ukuqunjelwa.
• Uhudo.
• I-Gastroesophageal Reflux (i-Gastroesophageal Reflux) - Lokhu kusho ukuthi ukudla kubuyela phezulu emphinjeni.

Cabanga ukuthi kubuhlungu kangakanani uma ingane encane inenkinga yokudla. Kodwa kunezindlela zokuphatha lezi zinto.

Ngisho noma kukhona umehluko endleleni ezinye izingxenye zomzimba ezikhule ngayo, ingane yakho ingase ikwazi ukwenza izinto ezithile yodwa. Isibonelo:

• Yidla wedwa.
• Hlala wedwa.
• Khuluma ngemisho emifushane, noma uveze imizwa yakho ngezinye izindlela, njengokubonisa izandla.
• Hamba.
• Sebenzisa indlu yangasese.

Ingane yakho ingathatha isikhathi eside kunabanye ukuze ikwazi ukuba yingcweti yala makhono. Kwezinye izimo ezinzima, ingase ingakwazi nhlobo ukuwasebenzisa kahle la makhono. Kodwa khumbula ukuthi ingane ngayinye ihlukile .

Yiziphi izimbangela ze-Aicardi Syndrome?

Lokhu kubangelwa uhlobo lwezakhi zofuzo ku-chromosome X. Ucwaningo lusaqhubeka ukuze kutholakale ukuthi iyiphi ngempela i-gene.

Into ebalulekile ukuthi lesi simo asisilo ifa . Okusho ukuthi, asisilo ifa kubazali. Sivela ngokungahleliwe, noma ngenxa yoshintsho olusha lwezakhi zofuzo oluvela ngokuzumayo.

Izici zengozi ze-Aicardi Syndrome

Lesi simo sithinta kakhulu amantombazane ngoba ukuguquka kwezakhi zofuzo kuthinta i-chromosome X.

Uyazi, amantombazane anama-chromosome amabili e-X (XX). Abafana bane-chromosome eyodwa ye-X kanye ne-chromosome eyodwa ye-Y (XY). La ma-chromosome anquma izici zobulili zengane.

Uma lesi simo sivela enganeni yesilisa, singaba yingozi ngoba bane-chromosome eyodwa kuphela engu-X. Njengoba abesifazane benama-chromosome amabili angu-X, noma ngabe eyodwa iyathinteka, enye ine-chromosome engu-X enempilo.

Izinkinga ze-Aicardi Syndrome

I-Aicardi Syndrome ingaholela ngisho nasekufeni ngaphambi kwesikhathi. Izizathu eziyinhloko zalokhu yilezi:

• Ukuquleka okuqhubekayo nokunzima ukukwelapha.
• Izinkinga ezihlobene nokudla nokuphuza.
• Ubunzima bokuphefumula.

Ingane yakho ingase ibe sengozini enkulu yokuthola izifo zokuphefumula ezisongela ukuphila njenge-pneumonia . Lokhu kungenxa yokuthi imisipha emaphashini kanye ne-diaphragm ibuthakathaka. Ngakho-ke, kungaba nzima ukulawula izifo ezinjalo.

Odokotela bayixilonga kanjani i-Aicardi Syndrome?

Ngezinye izikhathi udokotela angabona izimpawu zalesi simo ngesikhathi sokuhlolwa kwe-ultrasound ngaphambi kokuzalwa komntwana. Ngemva kokuzalwa komntwana, ukuxilongwa kuqinisekiswa ngokubheka izimpawu ezithinta ubuchopho namehlo omntwana.

Ukuhlolwa okulandelayo kungenziwa ukuqinisekisa ukuxilongwa:

• Iskeni se-MRI yobuchopho:Hlola i-corpus callosum kanye nezinye izakhiwo zobuchopho.
• Ukuhlolwa kwe-EEG (i-Electroencephalogram): Kuhlola umsebenzi kagesi wobuchopho ukuze kutholakale ukuthi isifo sokuwa sikhona yini.
• Hlola amehlo akho kudokotela wamehlo wezingane: Hlola izimo okukhulunywe ngazo ngaphambili, ``iColoboma'' kanye ``nezimbobo zeChoroidal''.

Iphathwa kanjani i-Aicardi Syndrome?

Ukwelashwa kwe-Aicardi Syndrome kuyahlukahluka kuye ngokuthi izimpawu zithinta kanjani ingane. Indlela eyodwa yokwelapha ayisebenzi kuwo wonke umuntu.

• Imithi yokuvimbela ukuquleka: Le mithi ingasiza ekulawuleni ukuquleka. Kodwa ngezinye izikhathi ukuquleka kunzima ukukwelapha. Ayikho imithi efanayo. Udokotela wengane yakho uzozama imithi eminingana ehlukene ukuthola osebenza kahle kakhulu kuyo.
• Amadivayisi afakelwa: Isibonelo, amadivayisi anjenge -vagus nerve stimulator angasiza ekulawuleni umsebenzi wobuchopho. Lokhu kungaba inketho uma imithi ingasebenzi.

Ezinye izindlela zokwelapha zingafaka:

• Ukwelashwa ngokomzimba: Qinisa imisipha futhi uthuthukise ukunyakaza.
• Ukwelashwa Kwabasebenzi: Thuthukisa amakhono adingekayo ukuze wenze imisebenzi yansuku zonke.
• Ukwelapha ngenkulumo: Thuthukisa amakhono okukhuluma noma usebenzise amanye amakhono okuxhumana.
• Izinhlelo zemfundo ekhethekile esikoleni.
• Ukusekelwa kokubona: Isibonelo, ukufunda indlela yokusebenzisa ubuchwepheshe obuhambisana nezimo noma indlela yokufunda i-Braille .

Ingane yakho izodinga ukwesekwa impilo yayo yonke, ikakhulukazi uma inokukhubazeka kwengqondo. Kukhona nosizo oluningi lomndeni nabanakekeli lokunakekela ingane yabo nokuthola izinsiza uma kudingeka.

Kufanele ngimbone nini udokotela wengane yami?

Uma ingane yakho ingakahlolwanga isencane, futhi yephuza ukuhlangabezana nezigaba zokukhula ezifanele iminyaka yayo (isib. ukukhuluma amazwi ayo okuqala, ukuhlala yodwa), bona udokotela ngokushesha .

Uma ingane yakho ihlushwa yi-seizure okokuqala, shayela izinsizakalo eziphuthumayo ngokushesha .

Yimiphi imibuzo okufanele ngiyibuze udokotela wengane yami?

Uma ufunda ngokuxilongwa kwengane yakho, ungase ube nemibuzo eminingi. Ungabuza imibuzo efana nale:

• Zingakanani izimpawu zengane yami?
• Yiziphi izimpawu okufanele ngiziqaphele?
• Ngenzenjani uma ingane yami inesifo sokuwa?
• Hlobo luni lokwelashwa olunconywayo?
• Ingabe ikhona imiphumela emibi yokwelashwa?
• Ingakanani iminyaka yokuphila kwengane yami?

Yini okufanele ngiyilindele uma ingane yami ine-Aicardi Syndrome?

Kunzima ukusho ngqo ukuthi i-Aicardi Syndrome izoyithinta kanjani ingane yakho. Ngenxa yokuthi lesi simo asivamile, futhi izimpawu zingahluka kakhulu kumuntu nomuntu, udokotela wengane yakho uzokutshela ukuthi yini ongayilindela ngqo ngesimo sengane yakho.

Ingane yakho izodinga ukwesekwa impilo yayo yonke. Ngenxa yokuthi ingase ingakwazi ukwenza izinto eziningi ngokuphepha yodwa, noma ngisho nokuphila ngokuzimela, izodinga ukunakekelwa kwezokwelapha okuqhubekayo, ukwelashwa, kanye nezinsizakalo zokusekela. Ithimba lezokwelapha lengane yakho lizokusiza endleleni. Ngale ndlela, ungaziswa ngalokho okufanele ukulindele nokuthi ungayisekela kanjani ingane yakho kangcono.

Ingakanani iminyaka yokuphila yengane ene-Aicardi Syndrome?

Inhlalakahle yesikhathi esizayo yengane yakho incike ebunzimeni bezimpawu zayo nokuthi zimbi kangakanani. Izimpawu ezibi zinganciphisa isikhathi sokuphila kwengane. Kodwa-ke, abantu abaningi abanezimpawu ezingembi baphila baze babe badala .

Lokhu kuyahlukahluka kuye ngomuntu nomuntu, ngakho khuluma nodokotela wengane yakho ukuze uthole ulwazi olunembile kakhulu.

"Ukuthola ukuthi ingane yakho inesifo esingavamile njenge-Aicardi Syndrome kungaba yinto enzima kakhulu umzali noma umnakekeli angazizwa. Unemibuzo eminingi mayelana nokuthi yini ongayilindela nokuthi yini ongayilindela. Nakuba odokotela bengenakukwazi ukubikezela ikusasa, banganikeza ingane yakho konke ekudingayo ukuze ihlale iphilile ngangokunokwenzeka, banikeze ukunakekelwa nokusekelwa."

Ukunakekelwa kwe-Aicardi Syndrome kuyinqubo yokuphila konke. Nakuba lokhu kungaba uhambo olucindezelayo noluthinta imizwa, khumbula ukuthi odokotela bengane yakho bazoba nawe kuzo zonke izinyathelo. Uma udinga usizo noma unemibuzo, ungangabazi ukubuza.

Umlayezo Wokuya Nawe Ekhaya

Kulungile, ngakho-ke, kunezinto ezimbalwa okudingeka uzikhumbule kulokho esikhulume ngakho:

• I-Aicardi Syndrome yisimo esingavamile kakhulu esiba khona lapho umuntu ezalwa .
• Lokhu kuthinta kakhulu ubuchopho namehlo , futhi kungabangela ukuxhuzula .
• Lesi simo asiveli esizukulwaneni ngesizukulwane .
• Izimpawu kanye nobukhali besimo kungahluka kakhulu kuye ngengane .
• Ukwelashwa kungasiza ekulawuleni izimpawu, futhi kubalulekile ukusekela ingane .
• Awuwedwa. Odokotela, abelaphi, namaqembu okusekelana akhona ukukusiza wena nomntanakho.
• Wonke umntwana uyigugu, unelungelo elifanayo lokuthandwa, ukunakekelwa, kanye nenjabulo. Kungumthwalo wethu ukusiza izingane eziphila nalesi simo zikhule ngokugcwele .

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde i-Aicardi Syndrome. Khumbula, udokotela wakho ungumuntu ongcono kakhulu ongakweluleka mayelana nengane yakho.

I- Aicardi Syndrome, I-Aicardi Syndrome, Izifo Ezingavamile, Izifo Zobuchopho, Ukuquleka, Ukulibaziseka Kokukhula, Ukuguqulwa Kwezakhi Zofuzo, Impilo Yengane