Ingaba umntwana wakho ngequbuliso uyaqhaqhazela aze aqine? Masifunde ngale hyperekplexia!

Ngaba umntwana wakho osandul’ ukuzalwa okanye umntwana omncinci ngequbuliso wothuka xa eva isandi okanye ukuchukunyiswa kancinci? Ngaba uyaqina aze azive ngathi ubethwa lilitye? Ngaba uziva ephelelwa ngumphefumlo? Ukuba wakha waphawula into efana nale, isenokuba yimeko ebizwa ngokuba yiHyperekplexia. Ungakhathazeki, siza kuthetha ngayo ngokweenkcukacha.

Yintoni le hyperekplexia?

Ngamafutshane, iHyperekplexia yimeko engaqhelekanga kakhulu yemithambo-luvo. Oku kwenzeka xa izihlunu zomntwana wakho ziba lukhuni kakhulu (ngokwezonyango zibizwa ngokuba yi-"Hypertonia"). Ngoko ke, kunzima ukuba azishukumise kakuhle izihlunu zakhe.

Ukongeza, aba bantwana babonisa ukusabela okugqithisileyo kokukhwankqiswa zizinto ezingalindelekanga ngequbuliso (ezifana nengxolo ekhawulezileyo, ukuchukumisa, okanye intshukumo). Oku koyika kunokubangela ukuba umzimba ushukume kwaye amehlo aqhwanyaze. Emva koku koyika, umzimba womntwana uba lukhuni okwethutyana, kwaye abakwazi ukushukuma. Eyona nto iyingozi kukuba ezinye iintsana zinokuyeka ukuphefumla ngeli xesha. Ukuba oku kuyaqhubeka, kunokuba yingozi ebomini. Ngamanye amaxesha le meko inokunxulunyaniswa ne-Sudden Infant Death Syndrome (SIDS).

Oogqirha badla ngokuyibona le meko kwiintsana ezisandul’ ukuzalwa, nokuba ngaphambi okanye emva kokuzalwa. Nangona kunjalo, le meko, ebizwa ngokuba yi-hyperekplexia, inokwenzeka nakubantu abadala.

Kukho amanye amagama aliqela ale meko:

• Isifo somntu oqinileyo (`(Isifo somntu oqinileyo sokuzalwa)`)
• I-Hereditary hyperekplexia (`(I-Hereditary hyperekplexia)`)
• Isifo sokuqhawuka
• Isifo seStartle (`(isifo seStartle)`)
• Isifo se-Stiff-baby

Ixhaphake kangakanani le meko?

Oku kunqabile kakhulu. Khawucinge nje, nakwilizwe elifana neMelika, le meko ibonwa ngesantya somntu omnye kubantu abangama-40,000. Ngoko ke le yinto engabonakaliyo kakhulu eSri Lanka.

Zithini iimpawu zeHyperekplexia?

Kukho iintlobo ezimbini eziphambili zale meko: Uhlobo olukhulu kunye nohlobo oluncinci.

Imo ephambili

Oku kwenzeka xa ngequbuliso, ngokungalindelekanga, wothuka ngendlela engaqhelekanga xa uchukumisa, ushukuma, okanye uvakala. Xa wothuka, ungaziva intloko yakho ijika umva, umzimba wakho ushukuma uze wenze iintshukumo ezingaqhelekanga, okanye umzimba wakho uqina uze uwe phantsi njengelitye.

Xa umntwana elele, usenokuba neentshukumo ezishukumisayo. Ukongeza, i-hypertonia ixhaphake kakhulu kwiintsana ezinale meko. Zisenokuhamba kancinci (ezibizwa ngokuba yi-hypokinesia) kwaye zinokuba nokukhubazeka okuncinci kwengqondo .

Ezinye iimpawu ezinokwenzeka kwiintsana, abantwana kunye nabantu abadala abanesifo esiphambili se-hyperekplexia ziquka:

• I-Hyperreflexia (ukusabela okugqithisileyo)
• Ukuphelelwa ngamandla komoya (i-apnea)
• Ukuhamba okungazinzanga (ukuhamba okungazinzanga)
• Ukuphuma kwesinqe ngexesha lokuzalwa
• Iihernias ze-Inguinal.

Ifomu encinci

Kule meko ilula, abantu abane-hyperekplexia badla ngokuba nempendulo engaqhelekanga neyothusayo kakhulu. Ezinye iimpawu zinokuba zincinci okanye zingabikho. Kwiintsana, ukuxhuzula kunokwanda xa zinomkhuhlane . Kubantwana nakubantu abadala, ukuxhuzula kunokwanda ngenxa yoxinzelelo okanye ixhala .

Iimpawu zeentlobo zombini zihlala ziqala ekuzalweni, kodwa kwabanye abantu, ziqala ukubonakala kamva ebuntwaneni okanye ebudaleni.

Kutheni le nto i-hyperekplexia isenzeka?

Eyona nto ibangela oku kukuguquka kwezakhi zofuzo. Ngokwezinto ezifunyenweyo, ubuncinane zi-genes ezintlanu ezahlukeneyo ezinokubangela le hyperekplexia. Ezi genes zezi:

• `ATAD1`
• `GLRA1`
• `I-GLRB`
• `GPHN`
• `SLC6A5`

Ezi jini zidlala indima ebaluleke kakhulu ekuveliseni iiproteni ezithile kwiiseli zethu zemithambo-luvo (ii-neurons). Ezi proteni zilawula indlela iiseli zemithambo-luvo ezisabela ngayo kwimolekyuli emzimbeni wethu ebizwa ngokuba yi-glycine. I-Glycine yi-amino acid, eyisiseko sokwakha iiproteni. I-Glycine ikwayi-neurotransmitter. Le yikhemikhali ethumela imiqondiso kwinkqubo yethu yemithambo-luvo.

Ngokwesiqhelo, i-glycine ilawula ukukhuthazwa kweefayibha zemisipha. Nangona kunjalo, ukuba kukho utshintsho lwezakhi zofuzo (utshintsho) kwenye yee-genes ezikhankanyiweyo apha ngasentla, isiphumo se-glycine kwinkqubo yemithambo-luvo siyancitshiswa. Emva koko, iiseli zemithambo-luvo zithumela imiyalezo engqondweni nakwimisipha ngaphandle kolawulo. Yiyo loo nto izihlunu ziqala ukusabela ngokugqithisileyo, kwaye kuvela ezinye iimpawu ze-hyperekplexia.

Kukho iindlela ezimbini onokuyifumana ngazo le meko njengelifa , iHyperekplexia:

1. Ngendlela elawulayo ye-autosomal.

2. Ngendlela yokurhoxa kwe-autosomal.

Ezi ziingxaki zemfuza ezintsonkothileyo, ngoko ugqirha wakho unokukuchazela ngakumbi oku.

Zithini iingxaki zale meko?

Sele sitshilo ukuba xa iintsana ezisandul’ ukuzalwa zine-hyperekplexia, imizimba yazo iyaqina ize ingakwazi ukushukuma okwethutyana. Ngexesha lokuqina, ezinye iintsana zinokuyeka ukuphefumla. Le yeyona nto iphambili ebangela isifo sokufa kweentsana ngesiquphe (SIDS). I-SIDS yeyona nto iphambili ebangela ukufa okungachazekiyo kwiintsana ezingaphantsi konyaka omnye ubudala.

Kunqabile kakhulu ukuba iintsana ezine-hyperekplexia zinokuba nesifo sokuxhuzula (`(Epilepsy)`), okanye oko sikubiza ngokuba yi-epileptic seizures.

Iimpawu ze-hyperekplexia zihlala ziphela xa umntu eneminyaka enye ubudala. Nangona kunjalo, abantwana kunye nabantu abadala abanale meko banokuqhubeka nokungcangcazela lula kunye nokuqina. Oku kunokubangela ukuba bawe rhoqo. Njengoko bekhula, basenokungakwazi ukumelana nengxolo enkulu kunye neendawo ezixineneyo. Abantu abanesifo sokuwa banokuba nokuxhuzula ubomi babo bonke.

Uyixilonga njani le nto?

Xa befumanisa imeko ye-Hyperekplexia, oogqirha bagxila kwiimpawu ezintathu eziphambili:

• Umzimba wonke uqinile emva kokuzalwa .
• Impendulo eyothusayo egqithisileyo kwisizathu esingalindelekanga.
• Emva kokwethuka, umzimba wonke uba lukhuni okwethutyana.

Uvavanyo oluqhelekileyo – uvavanyo lwegazi, uvavanyo lomchamo, ukuskena ubuchopho kunye ne-EEG – zonke zibonisa iziphumo eziqhelekileyo. Nangona kunjalo, uvavanyo lofuzo lunokuchonga utshintsho lwemfuza ezintlanu ezinxulumene nale meko.

Ngaba kukho unyango lwe-Hyperekplexia?

Ewe, inokunyangeka! Kubantwana nakubantu abadala, unyango oluphambili lwe-hyperekplexia liyeza elibizwa ngokuba yi-`(Clonazepam)`, elinciphisa ixhala kwaye linciphise ukuqina kwemisipha. `(Clonazepam)` sisithomalalisi esithambileyo esikwiklasi ye-`(Benzodiazepine)`. Inceda ekunciphiseni iimpawu ze-hyperekplexia, ingakumbi ukuqina kwemisipha. Oogqirha badla ngokunika abantwana ii-milligrams ezingama-0.01 ukuya kwi-0.1 ngekhilogram yobunzima bomzimba kunye nee-milligrams ezingama-0.8 ngosuku kubantu abadala.

Ugqirha wakho angakunika amanye amayeza amaninzi okunyanga le meko. Umzekelo:

• ICarbamazepine (`(Carbamazepine)`)
• I-Phenobarbitol (`(i-Phenobarbital)`)
• IPhenytoin (`(Phenytoin)`)
• I-Diazepam (`(Diazepam)`)
• I-Sodium valproate (`(i-Sodium valproate)`)

Ezinye iindlela zonyango zingabandakanya unyango lomzimba olunceda abantu abanengxaki yokuhamba kunye nonyango lokuqonda nokuziphatha (i-CBT) ukunciphisa ixhala.

Liza kuba njani ikamva kule meko? (Ingqikelelo)

Kwiimeko ezininzi, iimpawu ze-hyperekplexia kwiintsana ziyaphela xa zineminyaka emalunga neyodwa ubudala. Ezo ziindaba ezithuthuzelayo ngokwenene. Nangona kunjalo, kubantwana nakubantu abadala, iziphumo zale meko zinokuhlala ubomi bonke. Nangona kunjalo, njengoko bekutshiwo ngaphambili, kukho amayeza anokunceda ukulawula iimpawu.

Ngaba oku kungathintelwa?

I-Hyperekplexia yimeko yemfuza, ngoko ke ayinakuthintelwa. Ukuba ukhathazekile okanye unamathandabuzo malunga nokuba umntwana wakho uza kuyizuza na le meko, kulungile ukuthetha nomcebisi wemfuza. Emva koko ungafumana ukuqonda okucacileyo ngale nto.

Ndingazinyamekela njani? / Ndizinyamekela njani umntwana wam?

Ukuba wena okanye umntwana wakho une-hyperekplexia, kubalulekile ukuthatha amayeza anikwe ngugqirha wakho ngokuchanekileyo nangexesha. Ugqirha wakho uya kucebisa iindlela zonyango ezifanelekileyo kwimeko yakho. La mayeza afanele ancede ukulawula iimpawu zakho.

Ndifanele ndimbone nini ugqirha?

Ukuba umntwana wakho osandul’ ukuzalwa une-hyperekplexia, ugqirha uya kuyiqaphela xa ezalwa. Ngamanye amaxesha inokubonwa nangaphambi kokuba azalwe. Ukuba oku kuyenzeka, ugqirha womntwana wakho uya kuqala unyango ngoko nangoko.

Nangona kunjalo, ukuba wena okanye umntwana wakho nifumana ukuxhuzula okungachazwanga , kubalulekile ukubona ugqirha ngoko nangoko, njengoko le meko, ebizwa ngokuba yi-hyperekplexia, inokuba yimbangela yokuxhuzula.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukuba wena okanye umntwana wakho une-hyperekplexia, kungcono ukubuza ugqirha wakho le mibuzo:

• Kutheni le meko yenzekile? (Yintoni isizathu sale nto?)
• Loluphi unyango olucebisayo?
• Ngaba kunokwenzeka ukuba abantwana bam abazayo babe ne-Hyperekplexia?

Okokugqibela, izinto ekufuneka uzikhumbule

Kuqhelekile ukuba uzive ulusizi kwaye wothukile xa ufumanisa ukuba usana lwakho lune-Hyperekplexia. Akukho mntu ufuna ukubona umntwana wakhe ebandezeleka. Kodwa ukuba wena okanye umntwana wakho niphethwe yile meko, khumbula ukuba aniwedwa. Iqela lakho lezonyango lihlala likhona ukukunceda. Baza kukunika unyango oluza kukunceda ukulawula iimpawu zale meko.

Eyona nto ibalulekileyo kukuba, ukuba umntwana wakho une-Hyperekplexia,Khumbula ukuba ezi mpawu ziya kuncipha xa befikelela kumhla wabo wokuqala wokuzalwa. Oko kuyabanceda kakhulu, akunjalo? Ngoko ke, jongana nale meko ngesibindi, ulandele icebiso likagqirha.

I- Hyperekplexia, ukuxhuzula komntwana, ukuqaqamba kwemisipha, izifo zemithambo-luvo, izifo zemfuza, iintsana ezisandul' ukuzalwa, i-SIDS, i-clonazepam