Chii Chinonzi Prader-Willi Syndrome? Zviratidzo, Zvinokonzera, & Kurapa

Prader-Willi syndrome chirwere chisingawanzoitika chemagene chinoita kuti muviri wako ubude uye ushande kubva pakuberekwa. Inowanikwa kana mamwe magene pachromosome 15 asingashande zvakanaka, zvichikonzera matambudziko ekukura, kudzora kudya, uye kukura.

Ichi chirwere chinotaura zvikamu zvakawanda zveupenyu hwemunhu, kubva pakukura kwemuviri kusvika pakudzidza nemafambiro. Kunyange zvazvo zvichida kutarisirwa kwenguva refu nekutsigirwa, vanhu vane Prader-Willi syndrome vanogona kurarama hupenyu hunogutsa nekuchengetedzwa kwakakodzera kwemishonga, rutsigiro rwemhuri, uye zviwanikwa zvemunharaunda.

Chii Chinonzi Prader-Willi Syndrome?

Prader-Willi syndrome chirwere chinopatsanurwa chemagene chinotapurwa nevanhu vanosvika 1 mu 15,000 kusvika ku 30,000 pasi rese. Inowanikwa kana magene chaiwo pachromosome 15 asina kana asingashande zvakanaka.

Ichi chirwere chinoita kuti pave nezviratidzo zvakasiyana-siyana zvinochinja sezvo munhu achikura. Mucheche, vana kazhinji vanotambura nekushomeka kwenyama yemhasuru uye matambudziko ekudyisa. Sezvo vakura, kazhinji pakati pemakore 2 kusvika ku 8, nzara yakasimba, inenge isingagutsi inokura inogona kukonzera kuwedzera kukuru kwekuwanda kana isingatarisirwi zvakanaka.

Chinhu chinoita kuti ichi chirwere chive chinokosha ndechekuti chinotapurwa nehypothalamus, chikamu chidiki asi chinokosha cheuropi chinoita kuti pave nenzara, kukura, tembiricha yemuviri, uye manzwiro. Funga nezvazvo sechikamu chekudzora muviri chinobatsira kudzora mabasa mazhinji otomatiki.

Ndeapi zviratidzo zvePrader-Willi Syndrome?

Zviratidzo zvePrader-Willi syndrome zvinochinja zvakanyanya sezvo munhu achikura, zvichiita kuti pave nemapoka akasiyana-siyana aunoziva mhuri nevashandi vezvokurapa. Chikamu chega chega chinopa matambudziko aro uye zvinodiwa.

Mukati mecheche (kubva pakuberekwa kusvika kumakore 2), unogona kuona:

• Kushomeka kwakanyanya kwenyama yemhasuru, zvichiita kuti mwana anzwe “asina simba” kana akabatiswa
• Kuchema kusina simba uye kuoma kukotama kana kudya
• Kushomeka kwekuwanda kunyange zvazvo kuedza kudya
• Kurara kwakanyanya uye kuderedzwa kwemabasa
• Zviso zvakasiyana-siyana senge maziso akafanana neeamond uye muromo wakakombama
• Mazvo madiki nemaoko madiki kumhando yemuviri wavo

Sezvo vana vanopinda mukutanga kwehudiki (makore 2 kusvika ku 8), kuchinja kukuru kunoitika:

• Nzara yakasimba inoramba ichigutsa
• Kuwedzera kukuru kwekuwanda kana kudya kusina kudzorwa
• Kureba kwakapfupika kana kuchienzaniswa nevamwe
• Kunetseka kukura mukutaura, unyanzvi hwemaoko, uye kudzidza
• Matambudziko emafambiro senge kuchema uye kuomerera
• Matambudziko ekurara, kusanganisira kurara kwakanyanya masikati

Muhudiki nehudiki, zviratidzo zvimwe zvinogona kusanganisira:

• Kusakwana kwekuvanduka kwepabonde uye kushaya simba
• Kuenderera mberi nematambudziko ekudzora uremu
• Matambudziko ehutano hwepfungwa senge kunetseka kana maitiro ekunyanyisa
• Kuomerwa nekutaurirana kwevanhu uye kudzora manzwiro
• Scoliosis (mutsipa wakakombama) mune dzimwe nguva

Aya maratidzo anogona kusiyana zvikuru kubva kune munhu mumwe chete. Vamwe vanhu vanogona kuva nezviratidzo zvishoma, nepo vamwe vachikonzera matambudziko makuru. Chinhu chikuru ndechekuziva nekukurumidza uye kutsigirwa kwakakodzera.

Chii Chinokonzera Prader-Willi Syndrome?

Prader-Willi syndrome inoitika nekuda kwezvinetso nemagene pachromosome 15, kunyanya izvo zvinobva kurutivi rwababa. Izvi hazvisi chinhu vabereki vanokonzera kana kuti vangadai vakadzivisa.

Kune zvikonzero zvitatu zvikuru zvemagene, chimwe nechimwe chinoita kuti magene ashane:

• Kudzima (anenge 70% yezviitiko): Chikamu chidiki chechromosome 15 chakanyangarika
• Uniparental disomy (anenge 25% yezviitiko): Mwana anogamuchira ma kopi maviri echomosome 15 kubva kunaamai uye hapana kubva kuna baba
• Kukanganisa kwekuchinja kwemagene (anenge 5% yezviitiko): Ma gene aripo asi akadzima kana yaifanira kushanda

Aya magene anoita kuchinja kunowanzoitika panguva yekugadzirwa kwemasero ekuberekesa kana kutanga kwekukura kwemwana. Muzviitiko zvakawanda, haina kuwanikwa kubva kuvabereki, kunyange zvisingawanzoitiki, mamwe mhuri dzinogona kuva nerizi yakakwira yekuve neimwe mwana ane chirwere ichi.

Ma gene anoita kuti pave nenzara, kukura, kukura kwemhasuru, uye mamwe mabasa akakosha. Kana asingashande zvakanaka, zvinoita kuti pave nezviratidzo zvakaoma zvatinoona muPrader-Willi syndrome.

Rini unofanira kuona chiremba nekuda kwePrader-Willi Syndrome?

Kana ukaona zviratidzo zvinotyisa mumwana wako kana mwana, zvakakosha kutaura nechiremba wako nekukurumidza. Kuongororwa nekukurumidza uye kurapwa kunogona kuita musiyano mukuru mukutarisira chirwere ichi.

Taura nachiremba wako kana ukaona aya mazviratidzo ekutanga muvana vacheche:

• Kushomeka kwakanyanya kwenyama yemhasuru kana kushomeka kwenyama yemhasuru
• Kuomerwa kudya kana kushomeka kwekuwanda
• Kurara kwakanyanya kana kuderedzwa kwekutaura
• Kuchema kusina simba kana zviso zvakasiyana-siyana
• Kunetseka kukura kwezviitiko

Kune vana vakura, tsvaga rubatsiro rwezvokurapa kana ukaona:

• Kuwedzera kwakapindapinda munzara kana kuwedzera kukuru kwekuwanda
• Mafambiro anotyisa pamusoro pekudya kana kudya
• Kunetseka kukura kwezviitiko
• Kuchinja kwemifambiro kana matambudziko emanzwiro
• Zviratidzo zvekukura kwepamuviri kusakwana mune vechidiki

Rangarira, kuongororwa nekukurumidza kunobatsira mhuri kuwana kuchengetedzwa kwakakodzera kwemishonga, rutsigiro rwekudya, uye zviwanikwa zvedzidzo. Timu yako yekuchengetedza utano inogona kupa mazano uye kukubatanidza nevanachiremba vanonzwisisa ichi chirwere.

Ndeapi njodzi dzePrader-Willi Syndrome?

Prader-Willi syndrome kazhinji inoitika zvisingatarisirwi, zvinoreva kuti mhuri dzakawanda hadzina njodzi dzinozivikanwa. Kuchinja kwemagene kunoitika zvisingatarisirwi panguva yekukura kwemwana.

Nekudaro, kune mamiriro ezvinhu mashoma apo njodzi ingangodaro yakakwira zvishoma:

• Kukura kwemakore amai (kupfuura 35), kunyange zvazvo iyi iri njodzi shoma yakawedzera
• Nhoroondo yemhuri isingawanzoitika yezvinetso zvechromosome
• Mwana akapfuura ane Prader-Willi syndrome (kunyange zvazvo kudzokororwa kusina kujairika)

Zvakakosha kunzwisisa kuti kuva nemwana ane Prader-Willi syndrome hakusi chinhu chakaitwa nevabereki kana kuti vakanga vasina kuita. Ichi chirwere chinotapurwa nevanhu vemarudzi ose uye chinoitika pasi rese nehuwandu hwakafanana.

Kana uine nhoroondo yemhuri yezvirwere zvemagene kana uine mwana ane Prader-Willi syndrome, mazano emagene anogona kupa ruzivo rwakakodzera pamusoro penjodzi uye sarudzo dzekuronga mhuri.

Ndeapi matambudziko anogona kuitika ePrader-Willi Syndrome?

Prader-Willi syndrome inogona kukonzera matambudziko akawanda ehutano anoda kutarisirwa kwenguva refu kwemishonga uye kutarisirwa kwakanyatsojeka. Kunzwisisa izvi kunobatsira mhuri kugadzirira uye kutsvaga kuchengetedzwa kwakakodzera.

Matambudziko akajairika anosanganisira:

• Kuonda uye matambudziko ehutano ane hukama senge chirwere cheshuga uye chirwere chemwoyo
• Matambudziko ekurara, kusanganisira sleep apnea
• Matambudziko emafambiro uye ehutano hwepfungwa
• Matambudziko emwongo senge osteoporosis uye scoliosis
• Matambudziko ezino nekuda kwekunyanya mate uye kukwenya mazino
• Kuchenesa ganda kunogona kukonzera hutachiona

Matambudziko akakomba asi asingawanzoitika anogona kusanganisira:

• Kuonda kwakanyanya kunokonzera kuoma kufema
• Gastric necrosis (matambudziko emudumbu) kubva pakudya kwakanyanya
• Kukwakuka kubva pakudya nekukurumidza
• Zviitiko zvakakomba zvemafambiro zvinoda rubatsiro
• Kusurukirwa kwevanhu uye matambudziko ehukama

Mashoko akanaka ndeawo kuti akawanda ematambudziko aya anogona kudzivirirwa kana kutarisirwa nekuchengetedzwa kwakakodzera kwemishonga, rutsigiro rwekudya, uye kurapwa kwemifambiro. Kuongororwa nguva dzose uye timu yakasimba yekutsigira inokonzera musiyano mukuru mumagumisiro.

Prader-Willi Syndrome inogona kudzivirirwa sei?

Parizvino, hapana nzira yekudzivirira Prader-Willi syndrome sezvo inokonzerwa nekuchinja kwemagene kunowanzoitika panguva yekukura kwemwana. Ichi chirwere hachina kukonzerwa nezvinhu zvakatipoteredza kana zviito zvevabereki.

Nekudaro, kana uri kuronga pamuviri uye une hanya nezvirwere zvemagene, mazano emagene anogona kubatsira. Munyori wemagene anogona kukurukura nhoroondo yemhuri yako uye tsanangura sarudzo dzekuongorora dziripo.

Kune mhuri dzatotapura nePrader-Willi syndrome, pfungwa inochinja pakudzivirira matambudziko kuburikidza nekuita nekukurumidza uye kutarisirwa kwenguva refu. Izvi zvinosanganisira kuisa tsika dzakanaka dzekudya, kugadzira nzvimbo dzakachengeteka dzekudya, uye kuvaka masisitimu akasimba ekutsigira.

Prader-Willi Syndrome inoongororwa sei?

Kuongorora Prader-Willi syndrome kunosanganisira kucherechedza kwakanyatsojeka kwezviratidzo uye kuongororwa kwakakosha kwemagene. Maitiro acho anowanzo tanga kana vanachiremba vakaona zviratidzo zvakakosha mucheche kana kutanga kwehudiki.

Mupi wako wehutano anowanzo tanga nekuongororwa kwemuviri uye kuongororwa kwezviratidzo. Vachatsvaga zvinhu zvakasiyana-siyana senge kushomeka kwenyama yemhasuru, matambudziko ekudyisa, uye zviso zvakasiyana-siyana.

Kuongororwa kwakakosha kunoda kuongororwa kwemagene, izvo zvinogona kusanganisira:

• Kuongororwa kweMethylation kuongorora maitiro emagene
• Kuongororwa kweChromosome kutsvaga kudzimwa
• Kuongororwa kwakawedzerwa kuti uone chikonzero chakakosha chemagene

Kuongororwa nekukurumidza kunokosha kwazvo nekuti kunobvumira mhuri kuwana kuchengetedzwa kwakakosha kwemishonga, rutsigiro rwekudya, uye zviwanikwa zvedzidzo. Zvinobatsirawo vanachiremba kufanotaura uye kudzivirira matambudziko anogona kuitika.

Maitiro ekuongorora anogona kunzwa asingafadzi, asi rangarira kuti timu yako yekuchengetedza utano iripo kukutungamira mune nhanho imwe neimwe uye kupindura mibvunzo yako.

Kurapa kwePrader-Willi Syndrome ndekupi?

Kurapa kwePrader-Willi syndrome kunotarisa pakutarisira zviratidzo uye kudzivirira matambudziko muhupenyu hwemunhu. Hapana mushonga, asi kutarisirwa kwakakwana kunogona kuvandudza zvakanyanya mhando yehupenyu.

Kurapa kwemishonga kazhinji kunosanganisira:

• Kurapa kwehomoni yekukura kuvandudza kureba, simba remhasuru, uye kuumbwa kwemuviri
• Mazano ekudya uye kudzora kwakanyatsojeka kwekudya
• Kurapa kwemuviri kuvandudza simba remhasuru uye unyanzvi hwemaoko
• Kurapa kutaura kune matambudziko ekukurukurirana
• Kurapa kwemifambiro kune matambudziko emanzwiro uye evanhu
• Kurapa kumatambudziko ekurara uye mamwe matambudziko ehutano

Timu yekuchengetedza kazhinji inosanganisira nyanzvi dzakawanda dzinobata pamwe chete. Chiremba wako mukuru anoita basa pamwe chete nevanachiremba vezvokurapa, vanachiremba vezvokudya, vanachiremba, uye nyanzvi dzemafambiro kugadzira chirongwa chakakwana chekurapa.

Zvirongwa zvekurapa zvakasiyana-siyana nekuti zvinodiwa zvemunhu mumwe nemumwe zvakasiyana. Chinhu chinobatsira kune munhu mumwe chete chinoda kugadziriswa kune mumwe, uye zvinodiwa zvinochinja sezvo vanhu vakura uye vachikura.

Maitiro ekutora kurapa kumba panguva yePrader-Willi Syndrome?

Kutarisira Prader-Willi syndrome kumba kunoda kugadzira nzvimbo yakachengeteka, yakarongeka inogadzirisa matambudziko akasiyana-siyana echirwere ichi. Pfungwa iri pakugadzira maitiro anotsigira hutano uye hupenyu hwakanaka.

Kudzorwa kwekudya kazhinji ndicho chinhu chikuru chekutarisira kumba:

• Chengetedza nzvimbo dzese dzekudya nezvimiro kana zviratidzo
• Gadzira nguva dzakajairwa dzekudya nezvikamu zvakadzorwa
• Tarisa pazvokudya zvine utano, zvinogutsa nzara
• Batanidza mhuri mukuronga zvekudya uye kugadzirira
• Gadzira mabasa ekutsiva panguva dzekutarisa zvekudya

Kutsigira hutano hwese uye kukura kunosanganisira:

• Kukurudzira mabasa emuviri nguva dzose anokodzera nhanho yekukwanisa
• kuchengetedza nguva dzakajairwa dzekurara
• Kugovera rutsigiro rwepfungwa uye kunzwisisa
• Kugadzira chimiro uye maitiro anofanotaurwa
• Kufarira zvibudiriro uye kuvaka kuzviremekedza

Rangarira kuti kutarisira kumba ibasa retimu. Vanhu vemhuri, varapi, neshamwari vose vanoita mabasa akakosha mukuvaka nzvimbo inotsigira. Usanetseka kukumbira rubatsiro kana uchida.

Unofanira kugadzirira sei kuenda kuchiremba?

Kugadzirira kuenda kuchiremba kunobatsira kuve nechokwadi chekuti unowana zvakanyanya kubva panguva yako nevanachiremba. Kugadzirira kwakanaka kunokonzera kutaurirana kwakanaka uye kurapwa kwakanyanya kushanda.

Usati waenda kuchiremba,unganidza ruzivo rwakakosha:

• Nyora zviratidzo zvakakosha kana zvinetso zvawaona
• Cherechedza kuchinja kupi nekupi mukurima, kurara, kana mafambiro
• Rondedzera mishonga iripo uye zvinowedzerwa
• Gadzira mibvunzo pamusoro pesarudzo dzekurapa kana kutarisira kwezuva nezuva
• Uya nemakadhi ehutano kana migumisiro yekuongorora

Panguva yekushanya kwacho, usanetseka kubvunza mibvunzo pamusoro pezvinhu zvausinganzwisisi. Timu yako yekuchengetedza utano inoda kukubatsira kunzwa wakaziva uye uine chivimbo pamusoro pechirongwa chekurapa.

Funga kukoka nhengo yemhuri kana shamwari kubatsira kurangarira ruzivo rwakakosha rwakakurukurwa panguva yekushanya. Kunyora kunogonawo kubatsira pakutarisa gare gare.

Chii chinonyanya kukosha pamusoro pePrader-Willi Syndrome?

Prader-Willi syndrome chirwere chinopatsanurwa chemagene chinoda kutarisirwa kwenguva refu, asi nekuchengetedzwa kwakakodzera nekutsigirwa, vanhu vane chirwere ichi vanogona kurarama hupenyu hunogutsa. Kuongororwa nekukurumidza uye kurapwa kunokonzera musiyano mukuru mumagumisiro.

Chinhu chinonyanya kukosha kurangarira ndechekuti hausi wega munzira iyi. Kune vanachiremba, mapoka ekutsigira, uye zviwanikwa zvakagadzirirwa kubatsira mhuri dzakabatwa nePrader-Willi syndrome.

Kunyangwe chirwere ichi chiine matambudziko akasiyana-siyana, mhuri dzakawanda dzinowana simba mukubatana nevamwe vanonzwisisa zvavanofamba nazvo. Tarisa pakufarira zvibudiriro, kuvaka pane simba, uye kutora zvinhu zuva nezuva.

Mibvunzo inowanzo bvunzwa pamusoro pePrader-Willi Syndrome

Mubvunzo 1: Vanhu vane Prader-Willi syndrome vanogona kurarama vakazvimiririra here?

Vamwe vanhu vane Prader-Willi syndrome vanogona kurarama vakazvimiririra nekunetsekana, nepo vamwe vachida kutarisirwa kwakanyanya. Huwandu hwekuzvimiririra hunotsamira pakukwanisa kwemunhu, kuomarara kwezviratidzo, uye masisitimu ekutsigira aripo. Vanhu vakawanda vanofambira mberi munzvimbo dzekugara dzakatarwa nekunetsekana kwakakodzera nekubatsirwa.

Mubvunzo 2: Prader-Willi syndrome inowanikwa kubva kuvabereki here?

Muzviitiko zvakawanda, Prader-Willi syndrome inoitika zvisingatarisirwi uye haina kuwanikwa kubva kuvabereki. Nekudaro, mune dzimwe nguva dzisingawanzoitika dzinosanganisira kukanganisa kwekuchinja kwemagene, kungava nerizi shoma yakawedzera yekuzvitakura kwenguva yemberi. Mazano emagene anogona kupa ruzivo rwakakodzera pamusoro penjodzi yekudzokorora.

Mubvunzo 3: Vanhu vane Prader-Willi syndrome vanowanzo gara vari vapenyu kwenguva yakareba sei?

Nekuchengetedzwa kwakakodzera kwemishonga nekutarisirwa, vanhu vakawanda vane Prader-Willi syndrome vanogona kuva nehupenyu hwakafanana nehwevanhuwo zvavo. Zvinhu zvinokosha zvinoita kuti pave nehupenyu hurefu ndekutarisira matambudziko ane hukama nekuonda uye kuchengetedza hutano hwakanaka kuburikidza nekutarisirwa kwakakwana.

Mubvunzo 4: Kurapa kwehomoni yekukura kuchubatsira mwana wangu here?

Kurapa kwehomoni yekukura kunogona kuva kunobatsira kwazvo kune vana vakawanda vane Prader-Willi syndrome. Kazhinji inovandudza kureba, inowedzera simba remhasuru, inoderedza mafuta emuviri, uye inogona kubatsira nemazinga emagetsi uye kukura kwese. Timu yako yekuchengetedza utano inogona kuongorora kana kurapwa uku kwakakodzera mwana wako.

Mubvunzo 5: Kune mapoka ekutsigira emhuri dzakabatwa nePrader-Willi syndrome here?

Hungu, kune mapoka mazhinji ekutsigira uye masangano akatsaurirwa kubatsira mhuri dzakabatwa nePrader-Willi syndrome. Aya mapoka anopa zviwanikwa zvinokosha, rutsigiro rwepfungwa, uye mazano anoshanda kubva kune dzimwe mhuri dzinonzwisisa matambudziko auri kusangana nawo. Timu yako yekuchengetedza utano inogona kukubatsira kubatana nemapoka ekutsigira munzvimbo yako uye pamhepo.