Mwana wako anoita seari kukura nekukasika kupfuura vamwe vana here? Ngatikurukurei nezveSotos Syndrome

Wakamboona here kuti mwana wako ari kukura nekukurumidza kupfuura vamwe vana vezera rake, kana kuti musoro wake wakakura zvishoma? Kana kuti pamwe ane dambudziko rekudzidza zvimwe zvinhu? Izvi dzimwe nguva zvinogona kuva zviratidzo zvechirwere chemajini chisingawanzoitiki chinonzi Sotos Syndrome . Usazvidya mwoyo, tichataura nezvazvo zvakadzama, zviri nyore.

Chii chinonzi Sotos Syndrome?

Zvichitaurwa zviri nyore, Sotos Syndrome chirwere chisingawanzoitiki chemajini. Dzimwe nguva chinonzi Cerebral Gigantism . Vana vane chirwere ichi vanokura nekukurumidza kupfuura vamwe vana vezera ravo, zvichireva kuti vanokura kwenguva refu.

Kune zvinhu zvakawanda zvikuru zvine chekuita nechirwere ichi:

• Kuva murefu kupfuura vamwe.
• Musoro wakakura kupfuura avhareji uye chimiro chechiso chakasiyana.
• Kusashanda zvakanaka kwepfungwa, kana kuti kuoma kunzwisisa nekurangarira zvinhu.
• Matambudziko ekuzvibata kana matambudziko ekuzvibata.

Chikonzero chikuru chechirwere ichi kuchinja kwejini kunonzi NSD1 mumuviri wedu. Funga nezvazvo, jini reNSD1 iri rakafanana nebhuku rinoudza muviri wedu kuti ungakura sei. Saka, kana paine shanduko mujini iri, kutonga kwekukura kwemuviri kunova kusina kurongeka. Ndosaka vana vane chirwere ichi vachikura kupfuura vamwe.

Ndiani anowana Sotos Syndrome?

Ichi chirwere chemajini chinogona kukanganisa chero mwana. Kazhinji, 95 muzana (95%) yenguva, chinokonzerwa nekuchinja kwemajini matsva. Kureva, shanduko isina kurongeka mujini muzai kana sero rembeu. Izvi hazvisi mhosva yemunhu.

Zvisinei, kashoma, kana mumwe wevabereki aine iyi gene mutation, mwana anogonawo kuitora nhaka. Mukurapa, tinoidaidza kuti autosomal dominant inheritance. Kana zvakadaro, mwana wega wega anoberekwa nevabereki ivavo ane mukana we50 muzana (50%) wekugara nhaka iyi.

Mamiriro ezvinhu aya akajairika zvakadii?

Sotos syndrome chirwere chisingawanzoitiki . Chinofungidzirwa kuti chinokanganisa munhu mumwe chete pavana 14,000 vanozvarwa. Zviratidzo zvechirwere ichi zvinowanzofanana nezvevamwe vana, saka vamwe vana vanogona kusaonekwa vaine chirwere ichi.

Ndezvipi zviratidzo zveSotos Syndrome?

Nekuti chirwere ichi chinokonzera kukura kwemuviri nekukurumidza, vana ava vanogona kunge vaine chitarisiko chakasiyana. Hunhu hukuru hwemuviri ndehwekuti:

• Huma inobuda mudenga.
• Chiso chakarebesa, chakatetepa.
• Chirebvu chakanongedza.
• Maziso akatsveyama pasi (palpebral fissures).
• Kureba kweruoko kwakawedzera.
• Kushaya simba kwetsandanyama (hypotonia), zvinoreva kuremara zvishoma.
• Kureba kunowedzera zvichienderana nezera.

Yeukai kuti havasi vana vese vane hunhu uhwu, uye kungova nechimwe kana zviviri zvehunhu uhwu hazvirevi kuti vane Sotos syndrome.

Ndezvipi zvinetso zvemuviri zvinogona kuitika nekuda kwechirwere ichi?

Vana vane Sotos syndrome vanogona kusangana nematambudziko emuviri, anosanganisira:

• Matambudziko ekugadzirisa mafambiro emuviri. Ungave uchinetseka nekufamba, kumhanya, kana kusvetuka.
• Kurasikirwa nekunzwa.
• Matambudziko emwoyo neitsvo.
• Kurwara neScoliosis.
• Kubatwa nepfari, zvakaita sepfari.
• Matambudziko ekuona.

Asi musazvidya mwoyo , matambudziko mazhinji aya anogona kurapwa. Chiremba wenyu achapa mushonga unodiwa kuti mwana wenyu ararame hupenyu hunofadza uye hune hutano sezvinobvira.

Sotos Syndrome inokanganisa sei mwana wangu?

Dambudziko iri rinogona kukanganisa kwete kukura kwemuviri wemwana chete, asiwo Central Nervous System . Huro dzedu dzinongova uropi hwedu nemusana. Izvi ndizvo zvinodzora mashandiro emuviri wedu nepfungwa dzedu.

Saka, nekuti chirwere ichi chinokanganisa tsinga dzemuviri, panogona kunge paine kunonoka kudiki mumakore ekutanga ehupenyu hwemwana kusvika padanho rekukura . Madanho ekukura zvinhu izvo vana vazhinji vanogona kuita pazera rakati. Semuenzaniso:

• Unyanzvi hwekuziva: Madzidziro anoita mwana, mafungiro ake, uye kugadzirisa matambudziko ake.
• Kuvandudza mutauro: Matauriro anoita mwana uye mapinduriro aanoita kune zvinotaurwa nevamwe.
• Kukura kwemuviri: Unyanzvi hwemwana hwekufamba, kumhanya, uye kusvetuka.
• Unyanzvi hwemagariro evanhu uye hwemanzwiro: Maitiro anoita mwana nevamwe uye anovaka hukama.

Nekuti kushanduka kwemajini kunochinja mashandiro ehurongwa hwetsinga dzemwana, vana vane Sotos syndrome vanogona kunge vaine matambudziko epfungwa.

Kuchinja uku mukudzidza nekutamba kwemwana kunogonawo kukanganisa maitiro ake. Zvimwe zvezviratidzo zvemaitiro zvine chekuita neSotos syndrome zvinosanganisira:

• Kuzvidya mwoyo.
• Dambudziko rekushaya pfungwa/kunyanya kushanda zvakanyanya (ADHD).
• Dambudziko reAutism spectrum (ASD).
• Maitiro ekuvhunduka.
• Matambudziko ekudyidzana nevamwe.
• Maitiro ekutsamwira, kuchema (Kutsamwa).

Sotos Syndrome inosiyana sei pakati pevana nevakuru?

Vana vane chirwere cheSotos vanokura nekukasira kupfuura vamwe vana vezera ravo. Saka, pavanenge vachiri vadiki, vanoreba zvakanyanya kupfuura vamwe vana. Zvisinei, pavanokura, kusakwana kwehurefu kunonyangarika zvakanyanya. Izvi zvinoreva kuti sevakuru, hurefu hwavo hahuratidzike hwakasiyana zvakanyanya nehwevamwe vana.

Dambudziko rekuchengetedza kuenzana nekuda kwehurefu rinogona kuramba riripo kusvika munhu akura kana risingarapwe achiri mudiki.

Vanhu vazhinji vane Sotos syndrome vane matambudziko ekudzidza, asi vamwe vangasadaro. Hunhu hwematambudziko aya ekudzidza hunosiyana kubva pamunhu kusvika pamunhu. Zvisinei, huwandu hwekuremara hunowanzova hwakafanana muhupenyu hwese.

Sotos Syndrome inoonekwa sei?

Kuziva chirwere ichi kunogona kuoma nekuti, sezvandambotaura, zviratidzo zvacho zvakafanana nezvezvimwe zvirwere zvakajairika.

Chiremba wako achatanga aongorora mwana wako kuti aone kana aine zviratidzo. Zvadaro, kana zvichidikanwa, vachakutumira kuti unoongororwa majini . Izvi zvinosanganisira kutora sampuro yeropa remwana wako woiongorora kuti uone kana paine shanduko mujini reNSD1 yandambotaura. Kana bvunzo ikaratidza kuti pane shanduko mujini reNSD1, chiremba achagumisa kuti mwana ane Sotos syndrome. Kuongororwa uku kunowanzoitika panguva yehucheche kana hudiki.

Ndeipi mishonga yekurapa Sotos Syndrome?

Kurapwa kweSotos syndrome kunoenderana nekuoma kwechirwere chacho. Chinangwa chikuru chekurapa ndechekudzora zviratidzo uye kubatsira mwana kurarama hupenyu hwakanaka. Mamwe emishonga mikuru ndeaya:

• Rutsigiro rwedzidzo: Mapurogiramu edzidzo akagadzirirwa mwana zvichienderana nehunyanzvi hwake hwekudzidza.
• Kurapa kwakasiyana-siyana:
• Kurapa kwemaitiro: Kugadzirisa matambudziko emaitiro.
• Kurapa kwemuviri: Kuvandudza kuenzana kwemuviri uye kusimbisa tsandanyama.
• Kurapa kwekutaura: Kuvandudza hunyanzvi hwekutaura nemutauro.
• Mishonga yekudzora zviratidzo: Semuenzaniso, mishonga yeADHD nekuzvidya mwoyo.
• Zvishandiso zvekubatsira kunzwa kune vane matambudziko ekunzwa.
• Kupfeka braces yekumashure kana kuvhiyiwa kwe scoliosis.
• Kupfeka magirazi ekuona kana munhu atadza kuona zvakanaka.

Zvakakosha kupindira pakutanga kana mwana anonoka kukura uye zvimwe zviratidzo. Izvi zvichabatsira zvikuru mwana kusvika padanho rake rakazara.

Ndingaderedza here njodzi yemwana wangu yekubatwa neSotos Syndrome?

Sotos syndrome inowanzo kukonzerwa nekuchinja kwemajini kusingatarisirwi. Nokudaro, kazhinji, hapana nzira yekudzivirira .

Zvisinei, kana uine Sotos syndrome, kana kuti uri kutarisira mwana uye mumwe munhu mumhuri yako ane chirwere ichi chemajini, zvakakosha kuti utsvage mazano ezvemajini uye utaure nachiremba. Izvi zvichakubatsira kuti uzive njodzi yako yekuva nemwana ane chirwere ichi.

Chii chandinofanira kutarisira kana mwana wangu aine Sotos Syndrome?

Sotos syndrome chirwere chinogara kwenguva refu ; hapana mushonga. Asi chinonyanya kukosha ndechekuti chirwere ichi hachiwanzo kukonzera migumisiro yakaipa muhupenyu . Mashoko akanaka ndeekuti mwana ane Sotos syndrome anogona kurarama hupenyu hwakajairika .

Mwana wako anogona kunge aine zvimwe zviratidzo nekuda kwechirwere ichi chemajini. Zvisinei, kune mishonga nekurapwa zvinogona kubatsira kuderedza zviratidzo izvi. Chiremba wemwana wako anogona kukubatsira nezvechero zvinokunetsa.

Ndinofanira kuona chiremba wemwana wangu rini?

Zvakanaka kuona chiremba kana ukaona chimwe chezvinotevera mumwana wako:

• Kusateerera mirairo iri nyore kana kuti kunetseka kunzwa.
• Kuva nematambudziko ehunhu anokanganisa kudzidza kuchikoro.
• Kuomerwa nekuona zvakajeka kana kutsveta maziso nguva nenguva paunenge uchitarisa chimwe chinhu.
• Kukundikana kuzadzisa matanho ekukura pazera rakakodzera.

Ndinofanira kuendesa mwana wangu kukamuri rekukurumidzira riini (ETU) ?

Kana mwana wako aine Sotos syndrome uye aine pfari , unofanira kuenda nemwana wako kuchipatara nekukurumidza. Kupfari idambudziko guru reSotos syndrome. Kana pfari ikaitika, mwana wako anogona:

• Kurasikirwa kwenguva pfupi kwekuziva.
• Kuzununguka kwemakumbo nemaoko kusingadzoreki.
• Kuratidza kuvhiringidzika, kuzvidya mwoyo, kana kutya.

Kupfava kunowanzogara pakati pemasekonzi makumi matatu nemaminitsi maviri. Chero pfari inotora nguva inopfuura maminitsi mashanu idambudziko rehutano. Kana izvi zvikaitika, fonera 911 nekukasika.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Paunenge uchitaura nachiremba nezvemwana wako, zvinobatsira kubvunza mibvunzo yakaita seiyi:

• Chii chinoitika kana mwana wangu akasasvika padanho rekukura?
• Kana mwana achinetseka nekuchengetedza miganhu, ungamuchengetedza sei ?
• Ndinofanira kuona mwana wangu kuna chiremba wepfungwa kana paine migumisiro yakaipa inokonzerwa nechirwere ichi here?

Ndeupi musiyano uripo pakati peSotos Syndrome neAutism Spectrum Disorder (ASD)?

Sotos syndrome ne autism spectrum disorder (ASD) zvirwere zviviri . Zvisinei, nekuti zvimwe zvezviratidzo zvacho zvakafanana, dzimwe nguva zvinogona kuongororwa zvisizvo.

• Sotos syndrome chirwere chemajini chinokonzerwa nekuchinja kwemajini eNSD1.
• Autism spectrum disorder (ASD) chirwere chinokonzerwa nekukura kwetsinga. Kazhinji, chikonzero chaicho cheASD hachizivikanwe.

Zvisinei, zvakakosha kuziva kuti vana vane Sotos syndrome vane mukana mukuru wekuva neASD kupfuura vana vasina Sotos syndrome.

Heano mamwe maitiro akajairika anogona kuonekwa mune ese ari maviri mamiriro aya:

• Kuremara kwepfungwa.
• Kunonoka kukura kwemutauro.
• Kunonoka kwekushanda kwemuviri uye kuenzana.
• Kuomerwa nekugadzirisa mamiriro ezvinhu evanhu.
• Kuomerwa nekuisa pfungwa pachinhu chimwe chete.
• Maitiro chaiwo ekuzvibata uye tsika.

Musiyano mukuru ndewekuti Sotos syndrome inokanganisawo kukura kwemuviri wemwana, zvakaita sehurefu nehukuru hwemusoro. Zvisinei, autism spectrum disorder (ASD) haikanganisi kukura kwemuviri nenzira imwecheteyo. Vana vane Sotos syndrome vanokura nekukurumidza kupfuura vamwe vezera ravo, vane misoro mikuru, uye vane chimiro chakasiyana chechiso.

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakajairika kuti unzwe wakaremerwa paunoziva kuti mwana wako ane chirwere chemajini chisingawanzoitiki. Asi yeuka kuti Sotos Syndrome haisi chirwere chinotyisidzira hupenyu.

Nerudo rwenyu, rutsigiro, uye kurapwa kwakakodzera, mwana wenyu anogona kusvika padanho rake rakazara.

Kana uri kutarisira mwana, funga nezvekutsvaga mazano ezvemajini kuti uzive kana uri panjodzi yekubatwa nezvirwere zvemajini. Gara wakavhurika kuna chiremba wako uye usatya kubvunza chero mibvunzo yaunayo. Varipo kuti vakubatsire.

Sotos Syndrome, zvirwere zvemajini, kukura kwemwana, kuwedzera urefu, kukura kwehuropi, kuremara kwekudzidza, matambudziko emaitiro