Angelman Syndrome Ndiyo Chii? Zviratidzo, Zvinokonzera, Uye Kurapwa

Angelman syndrome chirwere chisingawanzoitika chemagene chinoita kuti kukura kwetsinga dzemukati kurege kuita zvakanaka, zvichikonzera kusakwanisa kufunga zvakanaka uye matambudziko ekufamba nekusimba. Izvi zvinoitika kana paine dambudziko negene rinonzi UBE3A, rine basa guru mukutaurirana kwemasero emuhuropi.

Vanhu vanenge 1 pavane 12,000 kusvika ku20,000 vanoberekwa vane Angelman syndrome. Kunyange zvazvo iri chirwere chehupenyu hwese chinopa matambudziko akasiyana, mhuri dzakawanda dzinoona nzira dzekuita kuti vanhu vavanoda vararame hupenyu hunofadza ne rubatsiro rwakakodzera nekutarisirwa.

Zviratidzo zveAngelman syndrome ndizvipi?

Zviratidzo zveAngelman syndrome zvinowanzoonekwa mugore rekutanga rehupenyu hwemwana, kunyange zvimwe zviratidzo zvingasatomboonekwa kusvika gare gare muhudiki. Izvi zviratidzo zvinoita kuti kukura kwemwana, kufamba, uye kutaura zvisashande zvakanaka.

Aya ndiwo zviratidzo zvakajairika zvaunogona kuona:

• Kukura kunonoka pakugara, kukambaira, uye kufamba
• Kutaura kushoma kana kusina, kunyange kunzwisisa kuri nani kupfuura kutaura
• Kuseka kwakawanda, kwakafara, uye kutarisa kwakanaka, dzimwe nguva pasina chikonzero chakajeka
• Kuridza maoko, kunyanya kana vakafara
• Matambudziko ekufamba, kusanganisira kufamba kwakasimba kana kusagadzikana
• Kuita zvirwere zvekuvhiringika, izvo zvinoita vanhu vanenge 80% vane chirwere ichi
• Matambudziko ekurara uye kuda kurara kushoma kupfuura zvakajairika
• Kufarira mvura uye zvinhu zvinonzwika senge mapurasitiki

Zviratidzo zvisingawanzoitika zvinosanganisira musoro mudiki, rurimi rwakabuda, kuyerera kwemvura, uye matambudziko ekudya muhucheche. Vamwe vana vanogonawo kuita scoliosis kana kuve nematambudziko eziso senge maziso akatambanudzwa.

Chinokosha ndechekuyeuka kuti munhu wese ane Angelman syndrome akasiyana. Kunyange zvazvo izvi zviratidzo zvakajairika, mwana wako angave nevamwe vakawanda kupfuura vamwe, uye kuomarara kunogona kusiyana zvikuru kubva kune mumwe munhu kuenda kune mumwe.

Chii chinokonzera Angelman syndrome?

Angelman syndrome inoitika nekuda kwezvinetso negene rinonzi UBE3A, riri pachromosome 15. Gene iri rinofanira kuita puroteni inobatsira masero emuhuropi kushanda zvakanaka, kunyanya munzvimbo dzinoongorora kudzidza, kutaura, uye kufamba.

Chirwere ichi chinogona kuitika nenzira dzakasiyana-siyana:

• Kubviswa kwechromosome 15 yemubereki wemukadzi (inokonzera anenge 70% yezviitiko)
• Kuchinja kwegene reUBE3A pachayo (anenge 11% yezviitiko)
• Matambudziko ne genetic imprinting, apo gene rinodzimwa zvisina kunaka (anenge 3% yezviitiko)
• Paternal uniparental disomy, apo ma kopi maviri echromosome 15 anobva kuna baba panzvimbo peimwe kubva kuna vabereki vese (anenge 7% yezviitiko)

Muzviitiko zvakawanda, Angelman syndrome inoitika zvisingatarisirwi panguva yekugadzira masero ekuberekesa kana pakutanga kwekusimukira kwemwana. Izvi zvinoreva kuti kazhinji haina kuwanikwa kubva kuvabereki, uye hapana chawaigona kuita zvakasiyana kuti udzikise.

Nekudaro, muzviitiko zvisingawanzoitika apo pane kuchinja kwechromosome mumubereki mumwe chete, panogona kunge paine mukana mukuru wekuva nemwana mumwe ane chirwere ichi. Munyori wenyu wemagene anogona kukubatsira kunzwisisa mamiriro ako chaiwo.

Rini unofanira kuona chiremba nezve Angelman syndrome?

Unofanira kutaura nachiremba wako kana ukaona kuti mwana wako mudiki kana mwana ane kunonoka kukura kwakakura pakusvika pakukura kwakakodzera. Zviratidzo zvepakutanga zvinoda kushanya kwachiremba zvinosanganisira kusagara nemavhiki gumi nemaviri, kusafamba nemavhiki gumi nemasere, kana kuva nekutaura kushoma kana kusina pazera remakore maviri.

Zvimwe zvikonzero zvakakosha zvekutsvaka rubatsiro rwechiremba zvinosanganisira kuita zvirwere zvekuvhiringika kazhinji, matambudziko makuru ekurara, kana mwana wako akaratidza musanganiswa wekunonoka kukura nekucheka kwakawanda kwakafara uye kuridza maoko. Dzimwe nguva vabereki vanoona kuti mwana wavo anoita kunge anzwisisa zvakawanda kupfuura zvavanogona kutaura, izvo chimwe chezviratidzo zvechirwere ichi.

Usamirira kana uri kunetseka nezve kukura kwemwana wako. Mabasa ekutanga ekubatsira anogona kuita musiyano wakakura mukubatsira mwana wako kusvika pakukura kwavo, kunyange usati wava nechirwere chakajeka.

Zvinhu zvinokonzera ngozi yeAngelman syndrome ndizvipi?

Kazhinji kazhinji yeAngelman syndrome inoitika zvisingatarisirwi, zvinoreva kuti kazhinji hapana zvinhu zvinokonzera ngozi zvinoita kuti mukana wekuva nemwana ane chirwere ichi uwedzere. Chirwere ichi chinoita vanhu vemarudzi ose zvakafanana uye chinoitika muvakomana nevasikana pamwero wakafanana.

Kuwedzera kwezera remubereki wemukadzi hakusi chinhu chinokonzera ngozi yeAngelman syndrome, zvakasiyana nezvimwe zvirwere zvemagene. Muzvikamu zvakawanda zvemhuri, hapana nhoroondo yemhuri yechirwere ichi, uye vabereki vane chromosomes dzakajairika.

Chete mamiriro ezvinhu apo ngozi ingave yakakwira ndeyekuti mumwe mubereki ane kuchinja kwechromosome kunosanganisira chromosome 15. Izvi zvisingawanzoitika uye zvingawanikwa chete kuburikidza nekuongororwa kwemagene mushure mekuva nemwana ane Angelman syndrome.

Matambudziko anogona kuitika eAngelman syndrome ndeapi?

Kunyangwe Angelman syndrome iri chirwere chehupenyu hwese, kunzwisisa matambudziko anogona kuitika kunogona kukubatsira kugadzirira uye kutsvaka kutarisirwa kwakakodzera kana zvichidiwa. Matambudziko mazhinji aya anogona kutarisirwa zvakanaka nerubatsiro rwakakodzera rwechiremba.

Matambudziko akajairika anosanganisira:

• Kuita zvirwere zvekuvhiringika, izvo zvinogona kusiyana kubva pakunaka kusvika pakukomba uye zvinoda mishonga inoramba ichitorwa
• Matambudziko ekudya muhucheche, dzimwe nguva zvinoda nzira dzekudya dzakasarudzika
• Matambudziko ekurara, kusanganisira kunetseka kurara uye kumuka usiku kazhinji
• Scoliosis (mutsipa wakakombama), izvo zvinoda kuongororwa kana kurapwa
• Kuora mwoyo, kazhinji zvinoda kuchinja kwekudya kana mishonga
• Kuita zvinhu zvakawanda uye matambudziko ekutarisa

Matambudziko asingawanzoitika anogona kusanganisira matambudziko eziso senge strabismus (maziso akatambanudzwa), matambudziko ezino, uye mune dzimwe nguva, matambudziko ekudzora tembiricha. Vamwe vanhu vanogonawo kuve ne gastroesophageal reflux, izvo zvinogona kukanganisa kudya uye kugadzikana.

Mashoko akanaka ndeakuti vanhu vakawanda vane Angelman syndrome vane hupenyu hwakajairika. Nekutarisirwa kwakakodzera kwemishonga uye rubatsiro, matambudziko mazhinji anogona kutarisirwa zvakanaka, achibvumira vanhu kurarama hupenyu hunofadza, hunobatanidza mumhuri dzavo nemunharaunda.

Angelman syndrome inozwiwa sei?

Kuziva Angelman syndrome kazhinji kunosanganisira kuongororwa kwemagene, asi maitiro acho anowanzo tanga nachiremba wako achiona kukura kwemwana wako nezviratidzo. Hapana bvunzo imwe chete inogona kubva yasimbisira chirwere ichi, saka kazhinji inoda musanganiswa wekuongororwa kwezviratidzo nekuongororwa kwakasarudzika.

Chiremba wako achatanga aita bvunzo yakakwana yemuviri uye aongorora nhoroondo yekukura kwemwana wako. Vachatsvaga zviratidzo zvakajairika senge kunonoka kukura, matambudziko ekufamba, uye hunhu hwakanaka hwakajairika nekucheka kwakawanda.

Maitiro ekuongororwa kwemagene anosanganisira:

1. Kuongororwa kweDNA methylation, izvo zvinogona kuona anenge 80% yezviitiko
2. Chromosomal microarray analysis kutsvaga kubviswa
3. UBE3A gene sequencing kana bvunzo dzimwe dzakajairika asi zviratidzo zvinoratidza zvakasimba chirwere ichi
4. Bvunzo dzakawanda dzakasarudzika mune dzimwe nguva

Kuwana chirwere kunogona kutora nguva, uye ungada kuona vanachiremba vakawanda kusanganisira vanachiremba vemagene, neurologists, uye vana vanachiremba vekukura. Maitiro aya anogona kunzwa akanyanya, asi nhanho imwe neimwe inobatsira kuvaka mufananidzo wakajeka wezvinodiwa nemwana wako.

Kurapwa kweAngelman syndrome ndechii?

Kunyangwe pasina mushonga weAngelman syndrome, kune kurapwa nemabasa mazhinji anogona kuvandudza hupenyu zvikuru uye kubatsira vanhu kusvika pakukura kwavo kwakazara. Kurapwa kunotarisa pakutarisira zviratidzo uye kubatsira kukura munzvimbo dzakawanda.

Nzira huru dzekurapa dzinosanganisira:

• Physical therapy kuvandudza simba, kusimba, uye kufamba
• Occupational therapy kukura hunyanzvi hwekuita mabasa ezuva nezuva
• Speech therapy uye rubatsiro rwekukurukurirana, kazhinji kusanganisira nzira dzakasiyana dzekukurukurirana
• Mishonga inorwisa zvirwere zvekuvhiringika kana paine zvirwere zvekuvhiringika
• Mishonga yekurara kana nzira dzekuita kuti varare zvakanaka kana paine matambudziko ekurara
• Rubatsiro rwekudzidza uye mapurogiramu ekudzidza akasarudzika

Mhuri dzakawanda dzinoonawo kuti behavioral therapy inobatsira pakutarisira kuita zvinhu zvakawanda uye matambudziko ekutarisa. Vamwe vanhu vanobatsirwa nezvishandiso zvekuita kuti varambe vakamira, uye mune zviitiko zve scoliosis yakakomba, kuvhiya kunogona kukurudzirwa.

Chinokosha kushanda nechikwata chevanachiremba vanonzwisisa Angelman syndrome. Izvi zvinogona kusanganisira neurologists, vana vanachiremba vekukura, physical therapists, speech therapists, uye nyanzvi dzekudzidzisa dzinoshanda pamwe chete kugadzira chirongwa chekutarisira chakakodzera kune zvinodiwa nemumwe munhu.

Ungapa sei rubatsiro rwemhuri pamba?

Kuita kuti imba ive nzvimbo inotsigira kunogona kuita musiyano mukuru mukunyaradza kwemumwe munhu zuva nezuva uye kukura. Mhuri dzakawanda dzinoita maitiro uye mazano anoshanda zvakanaka kune mamiriro avo chaiwo.

Aya ndiwo mamwe maitiro anowanzo kubatsira:

• Kuita maitiro akafanana ezuva nezuva, kunyanya nezvekudya nekurara
• Kushandisa maitiro ekuona uye mabhodhi ekukurukurirana kubatsira kunzwisisa
• Kuita nzvimbo yakachengeteka yekutsvaga, sezvo vanhu vakawanda vanofarira mvura nezvinhu zvidiki
• Kuita zvinhu zvinofadza, senge mimhanzi, zvinhu zvinonzwika, kana kufamba kwakapfava
• Kushanda pahunyanzvi hwekukurukurirana hwakapfava panguva yemabasa ezuva nezuva
• Kukurudzira kuita zvemuviri kwakakodzera kune nhanho yavo yekufamba

Kurara kunogona kuva kunyanya kuoma, saka mhuri dzakawanda dzinobudirira nemapazi ane rima, ruzha rwakajeka, uye maitiro akafanana ekurara. Vamwe vanhu vane Angelman syndrome vanobatsirwawo nemabhedha akaremerwa kana mamwe maturusi ekunyaradza.

Yeuka kuti nhanho imwe neimwe diki inokosha. Kupemberera kubudirira, pasinei nokuti zvingaita zvidiki sei, kunobatsira kugadzira nzvimbo yakanaka inotsigira kukura kweramangwana nekufara.

Unofanira kugadzirira sei kuenda kuchiremba?

Kugadzirira kuenda kuchiremba kunogona kukubatsira kuita zvakawanda panguva yako nevanachiremba uye kuve nechokwadi chekuti unowana ruzivo nerubatsiro rwaunoda. Kugadzirira zvakanaka kunogona zvakare kubatsira kuderedza kushushikana kwauri nekumumwe munhu.

Usati waenda kuchiremba,unganidza ruzivo rwakakosha senge rondedzero yemishonga iripo, chero kuchinja kwakaitwa mune zviratidzo kana maitiro, uye mibvunzo yaunoda kubvunza. Chengetedza dhayari pfupi yezvirwere zvekuvhiringika, maitiro ekurara, kana zvimwe zviratidzo zvinokunetsa kana izvi zviri matambudziko aripo.

Funga nezvekutora:

• Rondedzero yemishonga yese iripo
• Mavhidhiyo achangobva kuitwa emaitiro anokunetsa kana zviratidzo
• Mishumo yechikoro kana mazano ekufambira mberi kwemabasa
• Rondedzero yemibvunzo yakarongeka nekukosha
• Mumwe weumhuri kana shamwari yakavimbika yekutsigira

Panguva yekushanya kwachiremba, usambofunga kubvunza kuti unzwisise kana mazwi echiremba akanyanya kuoma. Vanachiremba vazhinji vanofarira kana mhuri dzichiuya dzakagadzirira uye dzinoshanda mubasa rekutarisira.

Chii chinokosha chekuyeuka nezve Angelman syndrome?

Angelman syndrome chirwere chakaoma chemagene chinoita kuti kukura kusashande zvakanaka uye chinodiwa kutsigirwa nguva dzose, asi zvakakosha kuyeuka kuti vanhu vane chirwere ichi vanogona kurarama hupenyu hunofadza, hunofadza. Mufaro wakajairika uye hunhu hwevanhu vakawanda vane Angelman syndrome kazhinji hunopa mufaro usingatarisirwi kumhuri nemunharaunda.

Kunyangwe chirwere ichi chinganzwa chakaoma pakutanga, kubatana nemhuri dzimwe, mapoka ekutarisira utano, nemasangano ekutsigira kunogona kupa mazano anokosha netariro. Kubatsira pakutanga nekurapa nguva dzose kunogona kuita musiyano wakakura mukubatsira vanhu vane Angelman syndrome kukura maitiro avo uye kutaura zvinodiwa zvavo.

Chinokosha ndechekutarisa pane simba rakasarudzika remumwe munhu uye kupemberera kufambira mberi, pasinei nokuti zvingave zvishoma sei. Nerubatsiro rwakakodzera, kutarisirwa kwemishonga, uye nzvimbo yerudo, vanhu vane Angelman syndrome vanogona kuwana hupenyu hunoreba, hunorema hwakazara nehukama nemufaro.

Mibvunzo inowanzo bvunzwa nezve Angelman syndrome

Mwana wangu ane Angelman syndrome achakwanisa kufamba here?

Vana vazhinji vane Angelman syndrome vanodzidza kufamba, kunyange zvazvo zvichiwanzoitika gare gare kupfuura zvakajairika uye maitiro ekufamba angave akasiyana. Vamwe vana vanofamba vega nemakore maviri kusvika matatu, nepo vamwe vasingafambi kusvika makore mana kusvika manomwe kana gare gare. Physical therapy inogona kubatsira zvikuru kuvandudza hunyanzvi hwekufamba nekusimba nekufamba kwenguva.

Vanhu vane Angelman syndrome vanogona kutaura here?

Kunyangwe vanhu vazhinji vane Angelman syndrome vane kutaura kushoma kwazvo, kazhinji vanonzwisisa zvakawanda kupfuura zvavanogona kutaura. Vakawanda vanodzidza kutaurirana zvakanaka kuburikidza nekuita zviratidzo, mabhodhi emifananidzo, mutauro wezviratidzo, kana zvishandiso zvemagetsi zvekutaurirana. Mutauro wavo wekunzwisisa (kunzwisisa) kazhinji uri nani kupfuura mutauro wavo wekutaura (kutaura).

Zvirwere zvekuvhiringika muAngelman syndrome zvinoita here kuti zviwedzere nekufamba kwenguva?

Zvirwere zvekuvhiringika zvakajairika muAngelman syndrome, zvinoita vanhu vanenge 80%, asi hazvina kuwedzera nekufamba kwenguva. Kutaura zvazviri, zvirwere zvekuvhiringika kazhinji zvinova zvishoma uye zviri nyore kutonga sezvo vana vakura, kunyanya nemishonga yakakodzera. Vanhu vakawanda vanoona kuti zvirwere zvekuvhiringika zvinova zvishoma kunetseka panguva yemakore ekukura uye udzamu.

Angelman syndrome inowanikwa kubva kuvabereki here?

Muzviitiko zvakawanda, Angelman syndrome inoitika zvisingatarisirwi uye haina kuwanikwa kubva kuvabereki. Anenge 90% yezviitiko ndizvo kuchinja kwemasero matsva kunoitika panguva yekugadzira masero ekuberekesa kana pakutanga kwekumisikidzwa. Muzviitiko zvishoma chete zvinosanganisira kuchinja kwechromosome panogona kunge paine mukana wakawedzera wekuita pamuviri mune ramangwana.

Hupenyu hurefu hweumwe munhu ane Angelman syndrome ndihupi?

Vanhu vane Angelman syndrome kazhinji vane hupenyu hwakajairika kana hwakafanana nehupenyu hwakajairika. Kunyange zvazvo chirwere ichi chinopa matambudziko anoda kutsigirwa nguva dzose nekutarisirwa kwemishonga, kazhinji hachideredzi hupenyu zvakanyanya. Vakuru vakawanda vane Angelman syndrome vanorarama kusvika mumakore avo ekukura, kunyanya nekutarisirwa kwakanaka kwemishonga uye rubatsiro rwemhuri.