Ngaba amehlo omntwana wakho ayaqhaqhazela rhoqo okanye abonakala ngathi ayaqengqeleka? Masifunde ngeJeavons Syndrome kunye ne-Epilepsy ene-Eyelid Myoclonia!

Ngaba umntwana wakho uqalise ukuqhwanyaza ngokukhawuleza ngequbuliso? Okanye amehlo akhe aqalise ukujikajika kwaye intloko yakhe ivakala ngathi ubuyela umva? Ngamanye amaxesha oku kunokuhamba nokuxhuzula okuncinci. Njengomzali, kuyinto eqhelekileyo ukuziva usoyika kakhulu kwaye ukhathazekile xa ubona into efana nale. Namhlanje siza kuthetha ngohlobo olungaqhelekanga lwesifo sokuxhuzula olubonisa ezi mpawu, kodwa asiva rhoqo ngazo. Oku kubizwa ngokuba yiJeavons Syndrome, okanye i-Epilepsy With Eyelid Myoclonia.

Yintoni iJeavons Syndrome?

Ngamafutshane, iJevons syndrome luhlobo olungaqhelekanga lwesifo sokuwa . Sibonakala ngokuqhwanyaza ngequbuliso, okanye ukuxhuzula kwamehlo. Le meko idla ngokubangelwa kukutshintsha kweendlela zokukhanya kunye novakalelo ekukhanyeni . Le meko idla ngokuqala ebuntwaneni .

Umele ukuba waziva usoyika kakhulu xa umntwana wakho wayenesithuthwane sokuqala, kwaye ngalo lonke ixesha enesithuthwane, akunjalo? Kusoloko kukho inkxalabo ngokhuseleko lwakhe. Nangona umntwana wakho efuna ukudlala, ukufunda, nolonwabo njengabanye abantwana, kuqhelekile ukuba nobabini nizive ningenakunceda ngale meko.

Kodwa iindaba ezimnandi zezokuba kukho unyango olukhoyo lokulawula ezi zifo zokuxhuzula nokulawula impembelelo ezinokuba nayo kwimpilo yengqondo yakho neyomntwana wakho . I-Jevons syndrome ayisiyongxaki ephela njengoko umntwana ekhula, yimeko yobomi bakhe bonke . Ke ngoko, umntwana uya kufuna unyango olufanelekileyo kunye nokubekwa esweni ubomi bakhe bonke.

Ngaba iJeavons Syndrome iyingozi?

Ewe, iJeavons Syndrome inokuba yingozi kwezinye iimeko . Uhlobo kunye nobukhali bokuxhuzula kunokuba nefuthe elikhulu kwimpilo yomntwana iyonke. Ekubeni singazi ukuba kuza kwenzeka nini ukuxhuzula, kukho ithuba elikhulu lokuba umntwana awe ngequbuliso aze alimale . Ke ngoko, kubalulekile ukufuna unyango kugqirha nokulandela imiyalelo yokugcina umntwana ekhuselekile.

Ingaba le meko inqabile kangakanani?

I-Jeavons Syndrome ichaphazela phakathi kwe-1% kunye ne-2% yabantu abafunyaniswe benesifo sokuwa. Kuqikelelwa ukuba malunga nezigidi ezingama-50 zabantu kwihlabathi liphela banesifo sokuwa. Ngoko khawucinge ukuba ipesenti yabo incinci kangakanani na.

Zithini iimpawu zeJeavons Syndrome?

Kukho iimpawu ezintathu eziphambili zeJevons syndrome:

1. Amehlo omntwana ayavaleka okanye aqhwanyaze rhoqo ngenxa yokufinyela ngokukhawuleza kwemisipha yeenkophe ngokungazikhetheliyo (`Eyelid Myoclonia`).Ngeli xesha, intloko neendlebe zomntwana zinokuwa. Oku kungenzeka xa umntwana elahlekelwe yingqondo ngequbuliso okanye ngaphandle kwayo ('ukuxhuzula kokungabikho'). Oku kuhlala imizuzwana embalwa. Oku kunokwenzeka amaxesha amaninzi ngemini, kodwa kudla ngokubonakala kusasa xa evuka .

2. Ukuxhuzula okubangelwa kukuvalwa kwamehlo (`Eyelid closure-elicited electroencephalographic paroxysms`) kukuxhuzula okubangelwa kukutshintsha kokukhanya okanye ukungalali kakuhle. Oku kwenzeka xa umntwana evala amehlo aze abe neepatheni zombane ezingaqhelekanga engqondweni (`Eyelid closure-elicited electroencephalographic paroxysms`). Ugqirha unokujonga ezi patheni ngovavanyo lwe-`EEG``.

3. Ukuva ukukhanya. Izibane ezikhanyayo zinokubangela ukuxhuzula. Izibane ezikhanyayo okanye ukutshintsha kwendlela yokukhanya (umz., ukukhanya kwelanga emithini) kunokubangela ukungakhululeki.

Khawuthelekelele, ngelixa umntwana wakho edlala, amehlo akhe aqala ukuqhwanyaza ngokukhawuleza kwaye intloko yakhe ibuyela umva. Emva kwemizuzwana embalwa, ubuyela esiqhelweni. Bekuya kuba nzima kangakanani ukuba oku kwenzeke izihlandlo ezininzi ngemini?

Ukongeza, umntwana usenokuba nokuxhuzula ngequbuliso iingalo nemilenze (`Myoclonic seizures`) okanye ukuxhuzula umzimba wonke ngokungalawulekiyo (`Grand mal` okanye `Tonic-clonic seizures`) . Nangona kunjalo, ezi azixhaphakanga kakhulu.

Zithini izinto ezibangela iJeavons Syndrome?

Ezi mpawu zibangelwa ikakhulu zizibane ezikhanyayo, ezikhazimlayo okanye ezikhanyayo .

• Izibane zeStrobe ezifana nezibane zedisco
• Isibane esifuna ukutshintshwa (sivuliwe, sivaliwe)
• Ilanga lavela ngequbuliso emafini
• Ukukhanya okukhanyayo phezu kwamanzi
• Ukutshintsha kweendlela zokukhanya njengoko imoto idlula emithini

Ezi zinto zinokubangela ukuxhuzula. Ngoko ke , ukuphepha imithombo ethile yokukhanya okanye ukukhusela amehlo omntwana wakho kutshintsho ekukhanyeni kunokunceda ukunciphisa ukuxhaphaka kwezi mpawu.

Iimpawu zeJeavons Syndrome ziqala xa zineminyaka emingaphi?

Ezi mpawu zihlala ziqala ebuntwaneni . Ubudala obuqhelekileyo bokuqala buphakathi kweminyaka eli-1 neli-15 , kodwa uninzi lweziganeko zixelwa phakathi kweminyaka emi-6 ne-8 .

Yintoni ebangela iJeavons Syndrome?

Isizathu esichanekileyo seJevons syndrome asikaqondwa ngokupheleleyo , kodwa uphando lubonisa ukuba kukho utshintsho lwezakhi zofuzo . Kufunyenwe ukuba utshintsho oluthile kwezi zakhi zofuzo zilandelayo lunokubangela esi sifo sokuxhuzula:

• `CHD2`
• `COL6A3`
• `KCNB1`
• `NAA10`
• `I-NEXMIF`
• `RORB`
• `SYNGAP1`

Ezinye zeendlela zotshintsho lwemfuza ezibangela le meko azikachongwa okwangoku. Indlela utshintsho ngalunye lwemfuza oludluliselwa ngayo ukusuka kwisizukulwana ukuya kwesinye (ilifa) inokwahluka. Ungacela uncedo kumcebisi wezemfuza ukuze ufunde okungakumbi ngale nto.

Ngubani osengozini enkulu yokuba nale meko?

Nabani na unokuba neJeavons Syndrome. Nangona kunjalo, umngcipheko uphezulu ukuba umntu kusapho lwakho unesifo sokuwa . Malunga nama-80% abantwana abafunyaniswe beneJeavons Syndrome banesalamane segazi esinesifo sokuwa esiqhelekileyo .

Kwakhona, le meko ixhaphake kakhulu phakathi kwamantombazana kunamakhwenkwe .

Ziziphi iingxaki ezinokubakho zeJeavons Syndrome?

Malunga nomntu omnye kwabahlanu ofunyaniswe ene-Jevons syndrome unokuba nokuxhuzula okulandelanayo, ngaphandle kokuphumla phakathi kwale meko. Oku kubizwa ngokuba yi -eyelid myoclonic status epilepticus .

Okubaluleke kakhulu, i-status epilepticus yimeko engxamisekileyo yezonyango esongela ubomi. Ifuna unyango olukhawulezileyo!

Ukuba umntwana wakho unesithuthwane esihlala ixesha elingaphezu kwemizuzu emi-5, okanye ukuba unesithuthwane esiphindaphindeneyo ngaphandle kokuchitha ixesha phakathi kwaso, fowunela u-911 ngoko nangoko okanye umse kwisebe likaxakeka lesibhedlele elikufutshane.

Isifo sokuwa sinokuba nefuthe elikhulu kwimpilo yengqondo yomntwana . Emva kokuwa, umntwana unokuziva esoyika kwaye angaphumli. Ixhala kunye nokudakumba nazo ziqhelekile kwiJevons syndrome. Ke ngoko, kubalulekile ukunyamekela impilo-ntle yengqondo yomntwana, kwaye ukuba kuyimfuneko, ufune uncedo kumcebisi wezempilo yengqondo .

Ifunyanwa njani iJeavons Syndrome?

Ugqirha uza kuyixilonga iJeavons Syndrome ngokuqwalasela ezi mvavanyo kunye nezinto ezilandelayo:

• Ngokwenza uvavanyo lwe-neurological.
• Ngokwazi imeko yempilo yomntwana kunye nembali yempilo yosapho lwakhe (ingakumbi isifo sokuwa).
• Ngokwenza uvavanyo lwe-EEG (i-Electroencephalogram - i-EEG).

Ngexesha lovavanyo, ugqirha uza kujonga iimpawu ezintathu eziphambili zeJevons syndrome ezikhankanyiweyo ngaphambili. Uza kususa nezinye iimeko ezinokubangela iimpawu ezifanayo ukuze enze uxilongo oluchanekileyo.

Inyangwa njani iJeavons Syndrome?

I-Jevons syndrome inyangwa ngamayeza okuthintela ukuxhuzula.Ukongeza, ugqirha wakho unokucebisa ukuba unxibe iilensi ezikhethekileyo ukulawula iimpawu ezibangelwa kukukhanya.

Loluphi uhlobo lwamayeza asetyenziswa koku?

Ugqirha womntwana wakho angakunika elinye okanye ngaphezulu la mayeza alandelayo okuthintela ukuxhuzula (adweliswe ngokulandelelana koonobumba):

• I-Brivaracetam `(Brivaracetam)`
• IClobazam
• I-Ethosuximide
• I-Lacosamide
• I-Lamotrigine
• Levetiracetam `(Levetiracetam)`
• I-Perampanel `(I-Perampanel)`
• I-Topiramate
• I-asidi yeValproic `(i-asidi yeValproic)`

Wonke umntu usabela ngokwahlukileyo kumayeza okuxhuzula . Kungathatha ixesha ukufumana amayeza afanelekileyo okanye indibaniselwano yamayeza omntwana wakho, kwaye kunokufuneka uzame amayeza ahlukeneyo . Oku kunokuba ngamava acaphukisayo kwaye ngamanye amaxesha kube lixesha elide. Ngeli xesha, kuya kufuneka ubonane nogqirha womntwana wakho rhoqo ukuze ubone indlela umzimba womntwana wakho osabela ngayo kumayeza.

Ugqirha uza kukwazisa nangemiphumo emibi enokubakho yalo naliphi na iyeza umntwana wakho alinikwayo. Ukuba unemibuzo malunga nonyango olucetywayo ngugqirha, buza.

Ngaba le meko inganyangwa ngokutshintsha ukutya komntwana?

Akukho ndlela ithile yokutya ecetyiswayo yeJeavons Syndrome. Okwangoku akukho datha ixhasa ukusetyenziswa kokutya kwe-ketogenic njengonyango lwesi sifo.

Liyintoni ikamva lomntwana oneJeavons Syndrome? (Ingxelo yokuqikelela)

Ikamva lomntwana onesi sifo liyahluka ngokuxhomekeke kwimeko ethile yomntwana ngamnye . Ugqirha womntwana wakho ngumntu ofanelekileyo ukwazi ngale nto.

Akukho nyango lweJevons syndrome, kodwa uphando oluthe kratya luyenziwa. Nangona yimeko ehlala ihleli, kukho unyango lokulawula ukuxhuzula .

Ngaba iJeavons Syndrome iyayichaphazela ingqondo yomntwana?

Ukuxhuzula nokuqhwanyaza kunokuphazamisana nokukwazi komntwana ukufunda kwigumbi lokufundela . Ukuba abakwazi ukugcina amehlo abo evulekile ngokufanelekileyo, kunokuba nzima ukuthatha inxaxheba ngokupheleleyo eklasini. Abantwana abaninzi abane-Jevons syndrome banobunzima bokufunda esikolweni kwaye banokufuna inkxaso eyongezelelweyo yemfundo . Nangona kunjalo, le meko ayichaphazeli ngqo ingqondo yomntwana .

Ukuba umntwana unengxaki yokukhula kakuhle, oko kusenokuba luphawu lokuba kukho unobangela wemfuza wesifo iJevons.

Ngaba iJeavons Syndrome iyayichaphazela indlela umntu aphila ngayo?

I-Jeavons Syndrome ayichaphazeli ngqo ubomi bomntwana . Ubomi obuqhelekileyo bunokwenzeka. Nangona kunjalo, ubunzima bokuxhuzula kunye nendlela umzimba womntwana osabela ngayo kunyango kunokuchaphazela impilo yonke yomntwana. Ugqirha unokunceda ukujonga nokulawula imeko ebomini bomntwana.

Ndifanele ndimbone nini ugqirha?

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

Ukuba wena okanye umntwana wakho nifunyaniswe ukuba ninesifo iJeavons Syndrome, ukuba ninesithuthwane okanye iimpawu ezibonakala zisiba mandundu, okanye ukuba nineziphumo ebezingalindelekanga zonyango, bonana nogqirha ngoko nangoko . Ugqirha wakho angakunceda wena nomntwana wakho nilawule esi simo aze aphendule imibuzo yenu.

Ndingayibuza yiphi imibuzo ugqirha?

• "Gqirha/Nkosikazi, loluphi uhlobo lonyango olulungele umntwana wam?"
• "Zithini iziphumo ebezingalindelekanga ezinokubakho zezi ndlela zonyango?"
• "Ngaba ucebisa ukusebenzisa uhlobo oluthile lweeglasi ukuze ufumane ukukhanya okubonakalayo?"
• "Ndingamnceda njani umntwana wam esikolweni?"

Ngaba iSunflower Syndrome inxulumene neJeavons Syndrome?

I-Sunflower Syndrome kunye ne-Jeavons Syndrome ziimeko ezimbini ezifanayo . I-Sunflower Syndrome ikwaluhlobo lwesifo sokuwa esihamba ne-eyelid myoclonia. Kule meko, umntu unokujika aye kumthombo wokukhanya okhanyayo (njengokukhanya kwelanga) aze ashukumise isandla sakhe phambi kwamehlo akhe. Oku kunokubangela utshintsho kwindlela yokukhanya kwaye kubangele ukuxhuzula.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Ngamanye amaxesha siyalibala ukuba ukukhanya kubaluleke kangakanani kubomi bethu bemihla ngemihla. Ukukhanya kusinceda sibone ebumnyameni size sikhule izityalo, umzekelo. Kodwa kumntu oneJeavons Syndrome, ukukhanya kunokubangela ukuxhuzula . Ugqirha angakunceda ukulawula indlela ukukhanya okumchaphazela ngayo umntwana wakho. Banokukunika amayeza kunye neelensi ezikhethekileyo zokugquma amehlo.

Khumbula:

• I-Jeavons Syndrome sisifo sokuwa esingaqhelekanga kodwa esilawulekayo .
• Iimpawu eziphambili kukuqhwanyaza ngequbuliso, ukuva ukukhanya, kunye nokoyika ukukhanya .
• Nangona le yimeko yobomi bonke, ingalawulwa ngamayeza kunye notshintsho kwindlela yokuphila .
• Lumka nempilo yengqondo yomntwana wakho . Funa uncedo lweengcali ukuba kuyimfuneko.
• Ukuxhuzula okuhlala imizuzu engaphezu kwemi-5 okanye uthotho lokuxhuzula yingxamiseko! Funa uncedo lwezonyango ngoko nangoko.

Ndiyathemba ukuba olu lwazi lukuncedile ukuba uqonde le meko. Ndinqwenela umntwana wakho aphile ngokukhawuleza!

Isifo sikaJevons , isifo sokuwa, ukuxhuzula, i-eyelid myoclonus, unyango lwabantwana, ukuva ukukhanya kwelanga, i-EEG