Ingabe izinkophe zengane yakho ziyaqhaqhazela njalo noma zibonakala ziphenduka? Ake sifunde nge-Jeavons Syndrome kanye ne-Epilepsy ene-Eyelid Myoclonia!

Ingabe ingane yakho encane isiqalile ukucwayiza ngokushesha? Noma ingabe amehlo ayo aqale ukuphenduka futhi ikhanda layo lizwakale sengathi libuyela emuva? Ngezinye izikhathi lokhu kungahambisana nokuquleka okuncane. Njengomzali, kuyinto evamile ukuzizwa wesaba kakhulu futhi ukhathazekile uma ubona into efana nale. Namuhla sizokhuluma ngohlobo olungavamile lwesifo sokuwa olubonisa lezi zimpawu, kodwa asivamile ukuzwa ngazo. Lokhu kubizwa ngokuthi i-Jeavons Syndrome, noma i-Epilepsy With Eyelid Myoclonia.

Iyini i-Jeavons Syndrome?

Kalula nje, i-Jevons syndrome iwuhlobo olungavamile lwesifo sokuwa . Sibonakala ngokuphazima kweso okungazelelwe, noma ukuqhaqhazela kwamehlo. Lesi simo sivame ukubangelwa ukushintsha kwamaphethini okukhanya kanye nokuzwela ukukhanya . Lesi simo sivame ukuqala ebuntwaneni .

Kumelwe ukuba wesaba kakhulu lapho ingane yakho iba nesithuthwane sokuqala, futhi njalo lapho iba nesithuthwane, akunjalo? Kuhlale kukhona ukukhathazeka ngokuphepha kwayo. Ngisho noma ingane yakho ifuna ukudlala, ukufunda, nokujabula njengezinye izingane, kuvamile ukuthi nobabili nizizwe ningenalusizo ngalesi simo.

Kodwa izindaba ezinhle ukuthi kunezindlela zokwelapha ezitholakalayo zokulawula lezi zinhlungu zokuwa nokulawula umthelela ezingaba nawo empilweni yakho yengqondo neyengane yakho . I-Jevons syndrome akuyona inkinga ephela njengoba ingane ikhula, iyisimo sempilo yonke . Ngakho-ke, ingane izodinga ukwelashwa okufanele kanye nokuqapha impilo yayo yonke.

Ingabe i-Jeavons Syndrome iyingozi?

Yebo, i-Jeavons Syndrome ingaba yingozi kwezinye izimo . Uhlobo kanye nobukhali bokuxhuzula kungaba nomthelela omkhulu empilweni yengane iyonke. Njengoba singazi ukuthi ukuxhuzula kuzokwenzeka nini, kunethuba elikhulu lokuthi ingane izowa ngokuzumayo ilimale . Ngakho-ke, kubalulekile ukufuna ukwelashwa kudokotela nokulandela imiyalelo ukuze ingane iphephe.

Kungavamile kangakanani lesi simo?

I-Jeavons Syndrome ithinta abantu abaphakathi kuka-1% no-2% abatholakale benesifo sokuwa. Kulinganiselwa ukuthi abantu ababalelwa ezigidini ezingu-50 emhlabeni wonke banesifo sokuwa. Ngakho cabanga ukuthi bancane kangakanani amaphesenti abo abanalesi simo.

Ziyini izimpawu ze-Jeavons Syndrome?

Kunezici ezintathu eziyinhloko ze-Jevons syndrome:

1. Amehlo engane ayavala noma acwayiza njalo ngenxa yokufinyela okusheshayo kwemisipha yejwabu leso ngokungazikhetheli (`I-Eyelid Myoclonia`).Ngalesi sikhathi, ikhanda nezindlebe zengane zingase ziwele phansi. Lokhu kungenzeka ngokulahlekelwa noma ngaphandle kokuqwasha ngokuzumayo ('ukuquleka kokungabikho'). Lokhu kuvame ukuhlala imizuzwana embalwa. Lokhu kungenzeka izikhathi eziningana ngosuku, kodwa kuvame ukubonakala ekuseni lapho ivuka .

2. Ukuxhuzula okubangelwa ukuvalwa kwamehlo (`I-Eyelid closure-elicited electroencephalographic paroxysms`) ukuxhuzula okubangelwa ukushintsha kokukhanya noma ukungalali kahle. Yilapho ingane ivala amehlo futhi ihlangabezana namaphethini kagesi angajwayelekile ebuchosheni (`I-Eyelid closure-elicited electroencephalographic paroxysms`). Udokotela angabheka la maphethini ngokuhlolwa kwe-`EEG``.

3. Ukuzwela kwelanga. Izibani ezikhanyayo zingabangela ukuxhuzula. Izibani ezikhanyayo noma ukushintsha kwamaphethini okukhanya (isib. ukukhanya kwelanga okukhanya ezihlahleni) kungabangela ukungakhululeki.

Cabanga nje, ngenkathi ingane yakho idlala, amehlo ayo aqala ukucwayiza ngokushesha futhi ikhanda layo libuyela emuva. Ngemva kwemizuzwana embalwa, ibuyela esimweni sayo esijwayelekile. Bekungaba yinto ecasulayo kangakanani ukube lokhu kwenzeka izikhathi eziningana ngosuku?

Ngaphezu kwalokho, ingane ingase ibe nokugxumagxuma okungazelelwe kwezingalo nemilenze (`Myoclonic seizures`) noma ukugxumagxuma okungalawuleki komzimba wonke (`Grand mal` noma `Tonic-clonic seizures`) . Kodwa-ke, lokhu akuvamile kakhulu.

Yiziphi izimbangela zeJeavons Syndrome?

Lezi zimpawu zibangelwa kakhulu izibani ezikhanyayo, ezikhanyayo noma ezikhanyayo .

• Izibani ze-strobe ezifana nezibani ze-disco
• Isibani esidinga ukushintshwa (sivuliwe, sivaliwe)
• Ilanga lavela ngokuzumayo emafwini
• Ukukhanya kukhanya phezu kwamanzi
• Amaphethini okukhanya ashintshayo njengoba imoto idlula ezihlahleni

Lezi zinto zingabangela ukuquleka. Ngakho-ke , ukugwema imithombo ethile yokukhanya noma ukuvikela amehlo engane yakho ekushintsheni kokukhanya kungasiza ekunciphiseni ukuvama kwalezi zimpawu.

Izimpawu zeJeavons Syndrome ziqala nini eminyakeni?

Lezi zimpawu zivame ukuqala ebuntwaneni . Isilinganiso sobudala sokuqala siphakathi kweminyaka eyi-1 neyi-15 , kodwa amacala amaningi abikwa phakathi kweminyaka eyi-6 neyi-8 .

Yini ebangela i-Jeavons Syndrome?

Imbangela eqondile ye-Jevons syndrome ayikaqondakali ngokugcwele , kodwa ucwaningo lusikisela ukuthi kukhona ukuguquka kwezakhi zofuzo . Kutholakale ukuthi izinguquko ezithile kuzakhi zofuzo ezilandelayo zingabangela lesi sifo sokuwa:

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

Ezinye zezinguquko zofuzo ezibangela lesi simo azikatholakali okwamanje. Indlela ushintsho ngalunye lofuzo oludluliselwa ngayo kusukela esizukulwaneni kuya kwesinye (ifa) ingahluka. Ungacela usizo kumeluleki wezakhi zofuzo ukuze ufunde kabanzi ngalokhu.

Ubani osengozini enkulu yalesi simo?

Noma ubani angaba ne-Jeavons Syndrome. Kodwa-ke, ingozi iphakeme uma othile emndenini wakho enesifo sokuwa . Cishe ama-80% ezingane ezitholakale zine-Jeavons Syndrome zinezihlobo zegazi ezinesifo sokuwa esivamile .

Futhi, lesi simo sivame kakhulu phakathi kwamantombazane kunabafana .

Yiziphi izinkinga ezingaba khona zeJeavons Syndrome?

Cishe umuntu oyedwa kwabahlanu otholakale ene-Jevons syndrome angase abe nokuquleka okuningana okulandelanayo, ngaphandle kokuphumula phakathi kwalokhu. Lokhu kubizwa ngokuthi i-eyelid myoclonic status epilepticus .

Okubaluleke kakhulu, i-status epilepticus iyisimo esiphuthumayo sezokwelapha esisongela impilo. Sidinga ukunakekelwa kwezokwelapha okusheshayo!

Uma ingane yakho inesifo sokuwa esihlala isikhathi esingaphezu kwemizuzu emi-5, noma uma iba nesifo sokuwa okuningana kulandelana ngaphandle kokuphumula phakathi kwalokhu, shayela u-911 ngokushesha noma uyise ingane yakho emnyangweni wezimo eziphuthumayo esibhedlela esiseduze.

Isifo sokuwa singaba nomthelela omkhulu empilweni yengqondo yengane . Ngemva kokuwa, ingane ingase izwe isaba futhi ingahlaliseki. Ukukhathazeka nokucindezeleka nakho kuvamile kwi-Jevons syndrome. Ngakho-ke, kubalulekile ukunakekela inhlalakahle yengqondo yengane, futhi uma kudingeka, funa usizo kumeluleki wezempilo yengqondo .

Itholakala kanjani i-Jeavons Syndrome?

Udokotela uzoxilonga i-Jeavons Syndrome ngokucabangela lezi zivivinyo kanye nezici:

• Ngokwenza ukuhlolwa kwezinzwa.
• Ngokwazi isimo sempilo yengane kanye nomlando wempilo yomndeni (ikakhulukazi isifo sokuwa).
• Ngokwenza isivivinyo se-EEG (i-Electroencephalogram - i-EEG).

Phakathi nalezi zivivinyo, udokotela uzobheka izimpawu ezintathu eziyinhloko ze-Jevons syndrome okukhulunywe ngazo ngaphambili. Uzophinde akhiphe ezinye izimo ezingase zibangele izimpawu ezifanayo ukuze athole ukuxilongwa okunembile.

Iphathwa kanjani i-Jeavons Syndrome?

I-Jevons syndrome iphathwa ngemithi yokuvimbela ukuquleka.Ngaphezu kwalokho, udokotela wakho angase ancome ukugqoka amalensi akhethekile ukulawula izimpawu ezibangelwa ukukhanya.

Hlobo luni lwemithi olusetshenziswa kulokhu?

Udokotela wengane yakho angase akunike umuthi owodwa noma ngaphezulu kwemithi elandelayo yokulwa nokuquleka (obhalwe ngokulandelana kwezinhlamvu zamagama):

• I-Brivaracetam `(Brivaracetam)`
• I-Clobazam
• I-Ethosuximide
• I-Lacosamide
• I-Lamotrigine
• I-Levetiracetam `(Levetiracetam)`
• I-Perampanel `(I-Perampanel)`
• I-Topiramate
• I-asidi ye-Valproic `(i-asidi ye-Valproic)`

Wonke umuntu usabela ngendlela ehlukile emithini yokuxhuzula . Kungathatha isikhathi ukuthola imithi efanele noma inhlanganisela yemithi yengane yakho, futhi kungadingeka uzame imithi eminingana ehlukene . Lokhu kungaba yinto ekhungathekisayo futhi ngezinye izikhathi yesikhathi eside. Phakathi nalesi sikhathi, kuzodingeka ubone udokotela wengane yakho njalo ukuze ubone ukuthi umzimba wengane yakho usabela kanjani emithini.

Udokotela uzokwazisa nangemiphumela emibi engaba khona yanoma yimuphi umuthi ingane yakho ewunikezwayo. Uma unemibuzo mayelana nokwelashwa okunconywa udokotela, buza.

Ingabe lesi simo singelashwa ngokushintsha ukudla kwengane?

Akukho ukudla okunconywayo okukhethekile kweJeavons Syndrome. Okwamanje akukho datha esekela ukusetshenziswa kokudla kwe-ketogenic njengokwelashwa kwalesi simo.

Liyini ikusasa lomntwana one-Jeavons Syndrome? (Isibikezelo)

Ikusasa lomntwana onalesi simo liyahlukahluka kuye ngesimo esithile sengane ngayinye . Udokotela wengane yakho ungumuntu ongcono kakhulu ongamazi ngalokhu.

Akukho ukwelashwa kwe-Jevons syndrome, kodwa kwenziwa ucwaningo olwengeziwe. Nakuba kuyisimo sokuphila konke, kunezindlela zokwelapha zokulawula ukuquleka .

Ingabe i-Jeavons Syndrome iyayithinta ingqondo yengane?

Ukuquleka nokucwayiza kungaphazamisa ikhono lengane lokufunda ekilasini . Uma ingakwazi ukugcina amehlo ayo evulekile kahle, kungaba nzima ukuhlanganyela ngokugcwele ekilasini. Izingane eziningi ezine-Jevons syndrome zinobunzima bokufunda esikoleni futhi zingadinga ukwesekwa okwengeziwe kwezemfundo . Kodwa-ke, lesi simo asithinti ngqo ukuhlakanipha kwengane .

Uma ingane inokuphazamiseka kokukhula, kungaba uphawu lokuthi kukhona imbangela yofuzo ye-Jevons syndrome.

Ingabe i-Jeavons Syndrome iyayithinta impilo yomuntu?

I-Jeavons Syndrome ayithinti ngqo impilo yengane . Impilo evamile ingenzeka. Kodwa-ke, ubukhulu bokuxhuzula kanye nendlela umzimba wengane osabela ngayo ekwelashweni kungathinta impilo yengane iyonke. Udokotela angasiza ekuqapheni nasekuphatheni lesi simo kuyo yonke impilo yengane.

Kufanele ngimbone nini udokotela?

Uma ingane yakho ihlushwa yisifo sokuwa okokuqala, shayela izinsizakalo eziphuthumayo ngokushesha noma uyiyise esibhedlela.

Uma wena noma ingane yakho nitholakale ninesifo iJeavons Syndrome, uma ninesithuthwane noma izimpawu ezibonakala ziba zimbi kakhulu, noma uma ninemiphumela emibi evela ekwelashweni, bonana nodokotela ngokushesha . Udokotela wakho angakusiza wena nengane yakho ukuthi niphathe lesi simo futhi aphendule imibuzo yenu.

Yimiphi imibuzo okufanele ngiyibuze udokotela?

• "Dokotela/Nkosikazi, hlobo luni lokwelashwa olufanele ingane yami?"
• "Yimiphi imiphumela emibi engaba khona yalezi zindlela zokwelapha?"
• "Uyancoma ukusebenzisa uhlobo olukhethekile lwezibuko ukuze uzwele ukukhanya?"
• "Ngingamsiza kanjani ingane yami esikoleni?"

Ingabe i-Sunflower Syndrome ihlobene ne-Jeavons Syndrome?

I-Sunflower Syndrome kanye ne-Jeavons Syndrome ziyizimo ezimbili ezifanayo . I-Sunflower Syndrome nayo uhlobo lwesifo sokuwa esihambisana ne-eyelid myoclonia. Kulokhu, umuntu angaphendukela emthonjeni wokukhanya okukhanyayo (njengokukhanya kwelanga) bese ephakamisa isandla sakhe phambi kwamehlo akhe. Lokhu kungabangela ushintsho endleleni yokukhanya futhi kubangele ukuquleka.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Ngezinye izikhathi siyakhohlwa ukuthi ukukhanya kubaluleke kangakanani empilweni yethu yansuku zonke. Ukukhanya kusisiza sibone ebumnyameni futhi sikhule izitshalo, isibonelo. Kodwa kumuntu one-Jeavons Syndrome, ukukhanya kungabangela ukuxhuzula . Udokotela angasiza ekuphatheni indlela ukukhanya okuthinta ngayo ingane yakho. Bangase bakunike imithi namalensi akhethekile okumboza amehlo.

Khumbula:

• I-Jeavons Syndrome iyisifo sokuwa esingajwayelekile kodwa esilawulekayo .
• Izimpawu eziyinhloko ukuphazima kweso, ukuzwela ukukhanya, kanye nokwesaba ukukhanya .
• Nakuba lesi yisimo esihlala impilo yonke, singalawulwa ngemithi kanye nokushintsha indlela yokuphila .
• Qaphela impilo yengqondo yengane yakho futhi . Funa usizo lochwepheshe uma kudingeka.
• Ukuxhuzula okuhlala imizuzu engaphezu kwemi-5 noma uchungechunge lokuxhuzula kuyisimo esiphuthumayo! Funa usizo lwezokwelapha ngokushesha.

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde lesi simo. Ngifisela ingane yakho ukululama okusheshayo!

I- Jevons syndrome, isifo sokuwa, ukuxhuzula, i-eyelid myoclonus, izingane, ukuzwela ukukhanya kwelanga, i-EEG