Ngaba umntwana wakho angachaphazeleka yile meko ingaqhelekanga? Masifunde nge-Aicardi Syndrome!

Mama nootata, ngamanye amaxesha kunokuba nzima ukucinga ngezifo ezithwalwa ngabantwana bethu abancinci, akunjalo? Ingakumbi ukuba yimeko engaqhelekanga ongava rhoqo ngayo. Namhlanje siza kuthetha ngenye yemeko enjalo. Ibizwa ngokuba yi -Aicardi Syndrome . Le yimeko engaqhelekanga kakhulu eyenzeka ekuzalweni kwaye ichaphazela ingqondo namehlo omntwana. Usenokuba noloyiko xa usiva eli gama, kodwa masithethe ngalo ngokweenkcukacha nangokulula.

Yintoni i-Aicardi Syndrome?

Ngamafutshane, i-Aicardi Syndrome yimeko apho umntwana ezalwa enenguqu ethile emzimbeni wakhe, ingakumbi ingqondo yakhe namehlo akhe. Le yimeko engaqhelekanga kakhulu. Oogqirha bachonga iimpawu ezintathu eziphambili kule meko. Masibone ukuba ziyintoni na.

1. Ukwakheka kwe-corpus callosum: Kukho inxalenye ebalulekileyo yengqondo yethu esebenza njengebhulorho edibanisa amacala asekhohlo nasekunene engqondo. Ibizwa ngokuba yi-corpus callosum. Kubantwana abanale meko, le nxalenye ayikakhiwa ngokupheleleyo, okanye yenziwe kancinci. Oku kunokuphazamisana nokutshintshiselana ngolwazi phakathi kwamacala omabini engqondo.

2. Isiphene semithambo-luvo okanye ukungabikho kwezicubu ngasemva kweliso (i-retina) (i-Coloboma okanye i-chorioretinal lacunae): Oku kwenzeka xa kukho isiphene kwi-optic nerve yeliso lomntwana (oko kukuthi, umsantsa obangelwa kukuba iliso alizange lenzeke kakuhle ngexesha lesigaba somntwana osandul’ ukuzalwa - yiloo nto ibizwa ngokuba yi-`(Coloboma)`). Okanye kukho ukungabikho kwezinye iindawo ze-retina, izicubu ezibuthathaka ngasemva kweliso ezithumela oko sikubonayo engqondweni (`(i-Chorioretinal lacunae)`). Oku kunokubangela ukuphazamiseka kokubona.

3. Ukuxhuzula: Aba bantwana banokuba nokuxhuzula kosana, okuqala besebancinci . Le yimeko ebangelwa kukungasebenzi kakuhle kombane engqondweni. Oku kuxhuzula kunokuqhubeka kuze kukhule kube kukuxhuzula okuphindaphindiweyo.

Le yimeko esongela ubomi. Kwezinye iimeko ezinzima, ubomi bomntwana bunokuchaphazela. Kodwa kufuneka sikhumbule ukuba ayizizo zonke iimeko ezinzulu . Nangona umntwana wakho esenokuba nexesha elifutshane lokuphila kunabanye abantwana, umntwana wakho usenokudlala, ahleke, kwaye onwabele ubuntwana bakhe. Ugqirha wakho uza kukuxelela into omawuyilindele ngokusekelwe kwimeko yomntwana wakho. Kuba, njengaye wonke umntwana, imeko yomntwana ngamnye yahlukile.

Ngenxa yokuba aba bantwana baya kufuna unyango kunye nenkxaso ubomi babo bonke, baya kuba nolwalamano olusondeleyo noogqirha babo. Kukwakho nezixhobo ezininzi kunye neengcebiso kubazali nakubanakekeli ukubanceda bajongane neemfuno zomntwana wabo njengoko ekhula.

Zithini iimpawu ze-Aicardi Syndrome?

I-Aicardi Syndrome inokuchaphazela iindawo ezahlukeneyo zomzimba womntwana. Ngokuyintloko:

• Ukuya engqondweni
• Ngamehlo
• Uphuhliso lomzimba

Makhe sijonge nganye kwezi nkcukacha zincinci.

Iimpawu ezinxulumene nengqondo

Kukho iimpawu ezininzi ezinokuchaphazela ingqondo yomntwana ngenxa yesi sifo:

• Njengoko bekutshiwo ngaphambili , i-corpus callosum ayisebenzi kakuhle .
• Ukuxhuzula , oko kukuthi, isifo sokuwa.
• Ukungalingani kobuchopho - Oku kuthetha ukuba ubungakanani okanye imilo yamacala omabini obuchopho ayifani.
• Ukungaqhelekanga (ngobukhulu okanye ngenani) kweethumba zobuchopho okanye amaqhuma.
• Iintsholongwane zobuchopho.
• Ukwanda kwemingxuma (ii-ventricles) zobuchopho ezizaliswe lulwelo.
• Iiseli zemithambo-luvo eziqokelelana kwiindawo ezingaqhelekanga (`(Heterotopia)`).

Enye yeempawu zokuqala zale meko isenokuba kukuxhuzula, okuqala xa umntwana eneenyanga ezimbalwa ubudala. Oku kunokubonakala ngathi kukuxhuzula kosana . Usenokuziva ngathi umzimba wonke womntwana wakho uyaxhuzula ngequbuliso. Oku kuxhuzula kunokubakho amaxesha amaninzi ngemini kwaye kunokuba nzima ngakumbi ngokuhamba kwexesha.

Ukongeza, ungaphawula ukuba umntwana wakho ufike kade ekufikeleleni kwinqanaba lokukhula elifanelekileyo ngokweminyaka yakhe. Umzekelo, usenokuba kade ekuqaliseni ukuhamba okanye ukuthetha amazwi akhe okuqala. Ukukhubazeka kwengqondo kuqhelekile kule meko. Kunokwahluka ukusuka kokuncinci ukuya kokuqatha.

Iimpawu ezinxulumene namehlo

Iimpawu ze-Aicardi Syndrome ezichaphazela amehlo omntwana ziquka:

• Isiphene kwi-optic nerve (`(Coloboma)`).
• Ukuncipha kwezicubu ze-retina (i-Chorioretinal lacunae).
• Amehlo amancinci okanye angakhulanga kakuhle (iMicrophthalmia).

Kwiimeko ezingezizo ezinzulu kangako, iingxaki zokubona zinokuvela ezifuna iiglasi kunye nokuhlolwa kwamehlo rhoqo. Nangona kunjalo, ukuba kukho iingxaki ezinkulu zamehlo, ubumfama bunokubakho.

Iimpawu ezinxulumene nophuhliso lomzimba

I-Aicardi Syndrome inokuchaphazela indlela amanye amalungu omzimba womntwana akhula ngayo. Oku kunokubangela iimpawu zomzimba ezifana nezi:

• Ubuthathaka bemisipha, ukuqhwalela, kunye nokulahlekelwa kukulungelelaniswa kwemisipha (`(Hypotonia)`). Ingavakala ngathi yinodoli yerabha.
• Intloko encinci (iMicrocephaly).
• Ukungaqheleki kakuhle emgogodleni nakwiimbambo, okunokubangela i-scoliosis.
• Iindlebe ezikhulisiweyo.
• Ukufinyezwa kwesithuba esiphakathi komlomo ophezulu kunye nempumlo (i-philtrum).
• Izandla ezincinci okanye ezikhubazekileyo.
• Ukuncitshiswa kweenkophe.

Iintsana zinokuba nobunzima bokuhlala, ukubambelela kwinto ethile, okanye ukuhamba. Umntwana wakho usenokuba nenye okanye ngaphezulu kwezi mpawu kolu luhlu, kodwa hayi zonke.

Iimpawu zesisu nazo zinokwenzeka xa kukho le meko. Umzekelo:

• Ubunzima bokutya (kwiintsana), ngamanye amaxesha bunzima kangangokuba kufuneka ukondliwa ngetyhubhu.
• Ukuqhinwa.
• Urhudo.
• I-Gastroesophageal Reflux (i-Gastroesophageal Reflux) - Oku kuthetha ukuba ukutya kubuyela phezulu emqaleni.

Khawuthelekelele indlela ekungelula ngayo xa umntwana omncinci enengxaki yokutya. Kodwa kukho iindlela zokulawula ezi zinto.

Nangona kukho umahluko kwindlela amanye amalungu omzimba akhule ngayo, umntwana wakho unokukwazi ukuzenzela izinto eyedwa. Umzekelo:

• Yitya wedwa.
• Hlala wedwa.
• Thetha ngezivakalisi ezimfutshane, okanye uziveze ngezinye iindlela, ezifana nezimbo zomzimba.
• Hamba.
• Sebenzisa indlu yangasese.

Umntwana wakho usenokuthatha ixesha elide kunabanye ukuze aziqonde ezi zakhono. Kwezinye iimeko ezinzima, usenokungakwazi ukuziqonda zonke ezi zakhono kwaphela. Kodwa khumbula ukuba wonke umntwana wahlukile .

Zithini izizathu ze-Aicardi Syndrome?

Oku kubangelwa lutshintsho lwejini kwi-chromosome X. Uphando lusaqhubeka ukuze kufunyaniswe ukuba loluphi kanye kanye olu jini.

Into ebalulekileyo kukuba le meko ayizuzisi . Oko kukuthi, ayizuzisi kubazali. Yenzeka ngengozi, okanye ngenxa yotshintsho olutsha lwemfuza olwenzeka ngequbuliso.

Izinto ezibangela umngcipheko kwi-Aicardi Syndrome

Le meko ichaphazela kakhulu amantombazana kuba utshintsho lwemfuza luchaphazela i-chromosome X.

Uyazi, amantombazana anee-chromosome ezimbini ze-X (XX). Abafana bane-chromosome enye ye-X kunye ne-chromosome enye ye-Y (XY). Ezi chromosome zimisela iimpawu zesini zomntwana.

Ukuba le meko iyenzeka kumntwana oyinkwenkwe, inokubulala kuba bane-chromosome enye kuphela eyi-X. Ekubeni abasetyhini benee-chromosome ezimbini ze-X, nokuba enye iyachaphazeleka, enye ine-chromosome eyi-X ephilileyo.

Iingxaki ze-Aicardi Syndrome

I-Aicardi Syndrome inokukhokelela nasekufeni kwangethuba. Izizathu eziphambili zoku zezi:

• Ukuxhuzula okungapheliyo nokunzima ukukunyanga.
• Iingxaki ezinxulumene nokutya neziselo.
• Ubunzima bokuphefumla.

Umntwana wakho usenokuba sengozini enkulu yokufumana izifo zokuphefumla ezisongela ubomi ezifana ne-pneumonia . Oku kungenxa yokuba izihlunu ezikwimiphunga kunye ne-diaphragm zibuthathaka. Ngenxa yoko, kunokuba nzima ukulawula ezo zifo.

Oogqirha bayixilonga njani i-Aicardi Syndrome?

Ngamanye amaxesha ugqirha unokubona iimpawu zale meko ngexesha le-ultrasound yokukhulelwa ngaphambi kokuba umntwana azalwe. Emva kokuba umntwana ezelwe, ukuxilongwa kuqinisekiswa ngokujonga iimpawu ezichaphazela ingqondo namehlo omntwana.

Ezi mvavanyo zilandelayo zingenziwa ukuqinisekisa ukuxilongwa:

• Iskeni ye-MRI yobuchopho:Hlola i-corpus callosum kunye nezinye izakhiwo zobuchopho.
• Uvavanyo lwe-EEG (i-Electroencephalogram): Lujonga umsebenzi wombane wengqondo ukuze kuqinisekiswe ukuba kukho isifo sokuwa.
• Jonga amehlo akho kugqirha wamehlo wabantwana: Jonga iimeko ezikhankanyiweyo ngaphambili, ``Coloboma'' kunye ``Choroidal lacunae''.

Inyangwa njani i-Aicardi Syndrome?

Unyango lwe-Aicardi Syndrome luyahluka ngokuxhomekeke kwindlela iimpawu ezichaphazela ngayo umntwana. Indlela enye yonyango ayisebenzi kuwo wonke umntu.

• Amayeza okuthintela ukuxhuzula: La mayeza anokunceda ukulawula ukuxhuzula. Kodwa ngamanye amaxesha kunzima ukunyanga ukuxhuzula. Akukho mayeza afanelekileyo kuwo onke. Ugqirha womntwana wakho uza kuzama amayeza ahlukeneyo ukuze afumane elona lilungele yena.
• Izixhobo ezifakelwayo: Umzekelo, izixhobo ezifana ne-vagus nerve stimulator zinokunceda ukulawula umsebenzi wobuchopho. Oku kungaba lukhetho ukuba amayeza awasebenzi.

Ezinye iindlela zonyango zingabandakanya:

• Unyango lomzimba: Yomeleza izihlunu kwaye uphucule intshukumo.
• Unyango lomsebenzi: Phuhlisa izakhono ezifunekayo ukwenza imisebenzi yemihla ngemihla.
• Unyango lokuthetha: Phucula izakhono zokuthetha okanye uziqhelise ezinye izakhono zonxibelelwano.
• Iinkqubo zemfundo ekhethekileyo esikolweni.
• Inkxaso yombono: Umzekelo, ukufunda indlela yokusebenzisa ubuchwepheshe bokuziqhelanisa okanye indlela yokufunda iBraille .

Umntwana wakho uya kufuna inkxaso ubomi bakhe bonke, ingakumbi ukuba ukhubazekile engqondweni. Kukwakho noncedo oluninzi kusapho nakubanakekeli bomntwana ukuze banyamekele umntwana wabo baze bafumane izixhobo xa zifuneka.

Ndifanele ndimbone nini ugqirha womntwana wam?

Ukuba umntwana wakho akakhange afunyanwe ebuntwaneni, kwaye ufike emva kwexesha ekufikeleleni kwimigangatho yokukhula efanelekileyo ngokweminyaka yakhe (umz., ukuthetha amazwi akhe okuqala, ukuhlala yedwa), bona ugqirha ngoko nangoko .

Ukuba umntwana wakho unesithuthwane okokuqala, fowunela iinkonzo zongxamiseko ngoko nangoko .

Yeyiphi imibuzo endifanele ndiyibuze ugqirha womntwana wam?

Xa ufunda ngokuchongwa komntwana wakho, unokuba nemibuzo emininzi. Ungabuza imibuzo efana nale:

• Zinzima kangakanani iimpawu zomntwana wam?
• Zeziphi iimpawu ekufuneka ndizijonge?
• Ndingenza ntoni xa umntwana wam enesithuthwane?
• Luhlobo luni lonyango olucetyiswayo?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?
• Ingakanani iminyaka yobomi bomntwana wam?

Yintoni endimele ndiyilindele ukuba umntwana wam une-Aicardi Syndrome?

Kunzima ukutsho ngqo ukuba i-Aicardi Syndrome iza kumchaphazela njani umntwana wakho. Ngenxa yokuba le meko ingaqhelekanga, kwaye iimpawu zinokwahluka kakhulu kumntu nomntu, ugqirha womntwana wakho uza kukuxelela into omawuyilindele ngokukodwa malunga nemeko yomntwana wakho.

Umntwana wakho uya kufuna inkxaso ubomi bakhe bonke. Ngenxa yokuba usenokungakwazi ukwenza izinto ezininzi ngokukhuselekileyo eyedwa, okanye aphile yedwa, uya kufuna unyango oluqhubekayo, unyango, kunye neenkonzo zenkxaso. Iqela lezonyango lomntwana wakho liya kukunceda endleleni. Ngale ndlela, unokwaziswa malunga nento omawuyilindele kunye nendlela engcono yokuxhasa umntwana wakho.

Ingakanani iminyaka yobomi bomntwana one-Aicardi Syndrome?

Impilo-ntle yomntwana wakho kwixesha elizayo ixhomekeke kubukhali beempawu zakhe kunye nokuba zinzima kangakanani. Iimpawu eziqatha zinokunciphisa ixesha lokuphila komntwana. Nangona kunjalo, abantu abaninzi abaneempawu ezibuthathaka baphila de babe ngabantu abadala .

Oku kuyahluka kumntu nomntu, ngoko ke thetha nogqirha womntwana wakho ukuze ufumane ulwazi oluchanekileyo.

"Ukufumanisa ukuba umntwana wakho unesifo esingaqhelekanga njenge-Aicardi Syndrome kunokuba yenye yezona zinto zinzima umzali okanye umnakekeli anokuziva. Unemibuzo emininzi malunga nokuba ungalindela ntoni kwaye ungalindela ntoni. Nangona oogqirha bengenakukwazi ukuqikelela ikamva, banokunika umntwana wakho yonke into ayidingayo ukuze ahlale esempilweni kangangoko kunokwenzeka, bemnyamekela kwaye bemxhasa."

Ukunyamekela i-Aicardi Syndrome yinkqubo yobomi bonke. Nangona olu lunokuba luhambo oluxinzelelekileyo noluneemvakalelo, khumbula ukuba oogqirha bomntwana wakho baya kuba nawe kuyo yonke inyathelo. Ukuba ufuna uncedo okanye unemibuzo, ungathandabuzi ukubuza.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ngoko ke, kukho izinto ezimbalwa ekufuneka uzikhumbule koko sithethe ngako:

• I-Aicardi Syndrome yimeko engaqhelekanga kakhulu ebakho xa umntu ezalwa .
• Oku kuchaphazela kakhulu ingqondo namehlo , kwaye kunokubangela ukuxhuzula .
• Le meko ayisiyonto ivela kwizizukulwana ngezizukulwana .
• Iimpawu kunye nobunzima bemeko bunokwahluka kakhulu kumntwana ngamnye .
• Unyango lunokulawula iimpawu, kwaye kubalulekile ukuxhasa umntwana .
• Awuwedwa. Oogqirha, iingcali zonyango kunye namaqela enkxaso akhona ukunceda wena nomntwana wakho.
• Wonke umntwana uxabisekile, unelungelo elifanayo lokuthandwa, ukukhathalelwa, kunye nolonwabo. Luxanduva lwethu ukunceda abantwana abaphila nale meko bakhule ngokupheleleyo .

Ndiyathemba ukuba olu lwazi lukuncedile ukuba uqonde i-Aicardi Syndrome. Khumbula, ugqirha wakho ngoyena mntu ufanelekileyo ukukunika ingcebiso malunga nomntwana wakho.

I- Aicardi Syndrome, i-Aicardi Syndrome, Izifo ezingaqhelekanga, Izifo zobuchopho, ukuxhuzula, ukulibaziseka kophuhliso, utshintsho lwemfuza, impilo yomntwana