Mwana wenyu ane zviratidzo izvi here? Ngatikurukurei nezvePhelan-McDermid Syndrome

Wakambonzwa nezvePhelan-McDermid Syndrome here? Pamwe hauna kumbonzwa nezvezita iri, nekuti chirwere chemajini chisingawanzoitiki. Chirwere ichi chinogona kukonzera matambudziko akasiyana-siyana ehutano, kunonoka kukura kwepfungwa, uye shanduko dzemaitiro, kunyanya kuvana vadiki. Saka, nhasi tichataura nezvazvo nenzira iri nyore yaunogona kunzwisisa. Usazvidya moyo, zvakakosha kuziva ruzivo urwu.

Chii chinonzi Phelan-McDermid Syndrome?

Zvichitaurwa zviri nyore, chirwere chePhelan-McDermid chirwere chemajini chinogona kukonzera matambudziko akasiyana-siyana mumuviri wemwana, njere, uye maitiro. Semuenzaniso:

• Kuomerwa nekudya.
• Kushaya simba kwetsandanyama.
• Kunonoka kutaura nezvimwe zvinhu zvinokosha pakukura kwemwana.
• Vamwe vana vane zvirwere zvakaita seAutism Spectrum Disorder.
• Dzimwe nguva zvirwere zvakaita sepfari zvinogona kutoitika.

Kune rimwe zita reizvi, iro rinonzi 22q13.3 deletion syndrome.'' Kunyange zvazvo zita racho ringaita serakaoma, ngatitaurei nezvazvo zvakare.

Dambudziko iri hariwanzoitiki kangani?

Kutaura zvazviri, chirwere ichi chinonzi Phelan-McDermid syndrome hachiwanzoitiki . Sekureva kwevasayendisiti, chinobata vana vari pakati pevaviri negumi pavana zana rezviuru. Zvisinei, nekuti zvakaoma kuziva, zvinokwanisika kuti vana vakawanda vane chirwere ichi kupfuura zvinoshumwa. Vana vari pakati pe2200 ne2500 chete ndivo vakaonekwa pasi rose. Saka unogona kufungidzira kuti izvi hazviwanzoitiki sei.

Chii chinobatanidzwa pakati pePhelan-McDermid syndrome ne autism?

Iri idambudziko rine vanhu vazhinji. Vana vazhinji vane chirwere chePhelan-McDermid vakaonekwa vaine chirwere cheautism spectrum disorder . Masayendisiti anofungidzira kuti vana vanosvika 1% vane autism vanogonawo kunge vaine chirwere chePhelan-McDermid. Izvi zvinoreva kuti pane hukama pakati pezviviri izvi.

Sei chirwere chePhelan-McDermid chichiitika?

Zvakanaka, ngationei kuti chii chinokonzera izvi. Izvi zvinokonzerwa nekuchinja kwemachromosome . Machromosome zvinhu zvidiki zviri mukati memasero edu. Mukati mawo mune majini edu. Majini akafanana neseti yemirairo inosarudza zvese kubva pakushanda kwemuviri wedu, kusvika pakureba kwedu, ruvara rwemaziso, uye zvirwere zvatingawana.

Kazhinji, sero rega rega remunhu rine ma chromosomes makumi maviri nematatu, zvichiita kuti pave nema chromosomes makumi mana nematanhatu. Mwana ane chirwere chePhelan-McDermid ane kachikamu kadiki ke chromosome 22 kasipo, kana kuti "kakabviswa." Ndosaka kachinziwo 22q13.3 deletion syndrome.'

Kazhinji, chirwere ichi hachigamuchirwi nevabereki. Kurasikirwa uku kwechikamu chemakromosomu kunoitika zvisina tsarukano, kureva kuti, kana zai kana sero rembeu raumbwa, kana kuti mwana ari mudumbu ari kukura. Zvisinei, mune dzimwe nguva zvisingawanzoitiki, chinogona kugamuchirwa nemubereki. Muchiitiko ichocho, amai kana baba vane chirwere ichi vane mukana we50% wekuti mwana wavo agare nhaka chirwere ichi.

Ndezvipi zviratidzo zvechirwere ichi?

Zviratidzo zvePhelan-McDermid syndrome zvinogona kusiyana zvikuru kubva pamunhu kusvika pamunhu. Vamwe vanhu vane zviratidzo zvishoma, vamwe vane zvakawanda. Zvimwe zviratidzo zviripo pakuzvarwa, nepo zvimwe zvichionekwa muhucheche kana muhudiki. Zviratidzo izvi zvinogona kuva zvemuviri, maitiro, pfungwa, kana musanganiswa wezvose izvi.

Mwana wako anogona kunge aine zviratidzo zvakadai se:

• Kunonoka kukura : Zvinhu zvakaita sekusagumburwa, kusagara, kusafamba. Funga nezvazvo, vamwe vacheche vanotanga kugumburwa pamwedzi mitanhatu, vamwe vanogara pamwedzi mipfumbamwe. Asi mwana ane chirwere ichi anogona kutora nguva yakati rebei kuti aite zvinhu izvi.
• Kuwedzera kwekutsungirira marwadzo : Izvi zvinoreva kunzwa kurwadziwa kushoma pane vamwe.
• Kushaya simba kwetsandanyama (hypotonia) : Muviri unogona kunzwa kurema uye kuremara.
• Matambudziko ekutaura : Kunonoka kutaura kana kutadza kutaura.
• Matambudziko ekurara : Kuomerwa nekurara, sekumuka nguva nenguva.
• Kudikitira zvishoma pane zvakajairika : Izvi zvinogona kukonzera kuti muviri upise zvakanyanya uye ushaye mvura mumuviri.
• Kuomerwa nekudya kana kumedza .
• Matambudziko ekugaya chikafu : Kuda kurutsa, kurutsa, uye chirungurira (gastroesophageal reflux disease).

Vanhu vazhinji vane chirwere chePhelan-McDermid vanewo chirwere cheautism spectrum disorder, saka vanogonawo kusangana nezviratidzo zvehunhu zvakaita se:

• Kutarisa mumaziso kushaya simba .
• Kunzwa kutya uye kutya patinenge tiri pasocial media .
• Kufarira kutsenga zvinhu zvisiri zvekudya (semuenzaniso matoyi, mbatya).
• Kunzwa kubatwa zvakanyanya : Kunzwa kusagadzikana kana mumwe munhu akakubata.

Zvimwe zvinhu zvakakosha zvinogona kuonekwawo muchitarisiko chevanhu vane chirwere ichi:

• Maziso akanyura.
• Maziso akarembera (ptosis).
• Nzeve dzakakura kana kuti dzakabuda mberi.
• Zvigunwe zvechipiri nezvechitatu zvinogona kuita sezvinobatanidzwa pamwe chete (syndactyly).
• Kuva nemaoko kana tsoka hombe dzine tsandanyama.
• Musoro wacho wakarebeswa uye wakatetepa.
• Chirebvu chinova nechimiro chakapinza.
• Nzara dzezvigunwe diki kana dzisina kujairika.

Dzimwe nguva chirwere ichi chinoperekedzwa nechirwere chemwoyo chekuzvarwa nacho uye matambudziko eitsvo.Kashoma, vana ava vanogona kuita masaga ane mvura (arachnoid cysts) muuropi hwavo. Izvi zvinogona kukonzera kumanikidzwa kwakanyanya mumusoro, zvichikonzera kusagadzikana, kuchema, musoro, uye pfari.

Chirwere ichi chinoonekwa sei?

Nekuti zviratidzo zvePhelan-McDermid syndrome dzimwe nguva hazvionekwe zvakanyanya, zvinogona kuoma kuziva. Mwana wako angangoda kuongororwa kakawanda asati awana chirwere chaicho. Chiremba anogona kuita zvinhu zvakaita se:

• Kuongororwa kwemuviri wemwana.
• Kubvunza nezvenhoroondo yemwana yehutano maererano nezviratidzo uye kunonoka kukura kwake.
• Bvunza nezvenhoroondo yezveutano hwemhuri kuti uone kana paine munhu mumhuri akambova nechirwere ichi.
• Kumbira kuongororwa kwemajini . Izvi zvinowanzosanganisira kutora ropa diki. Izvi zvinogona kushandiswa kuona kana chidimbu chechromosome chiri kutaurwa nezvacho chisipo.

Muzviitiko zvisingawanzoitiki, chirwere ichi chingasakonzerwa nechromosome isipo. Asi, chinogona kunge chichikonzerwa nekuchinja kwejini rinonzi SHANK3. Kana pasina kubviswa kwechromosome kwakawanikwa, chiremba wako anogonawo kukurudzira kuti uedze jini iri.

Kana bvunzo dzikasimbisa chirwere chinonzi 22q13.3 deletion syndrome, chiremba anogona kukurudzira mimwe miedzo yakati wandei:

• Kuongororwa kwemajini kwevabereki vese : Ona kana ichi chiri chinhu chakagarwa nhaka kana kuti chiitiko chisina kurongeka.
• Kuongororwa kweuropi hwemwana neMRI (Magnetic Resonance Imaging) kana CT (Computed Tomography) : Kuti vaone kana paine zvinhu zvakaita se arachnoid cyst yataurwa pamusoro apa.
• Ultrasound yeitsvo : Kuongorora zvikanganiso zveitsvo.
• Echocardiogram : Kuongorora kana mwoyo wako usina kumira zvakanaka.
• Kuongororwa kwekunzwa.
• Kuongororwa kwemaziso zvakadzama.
• Chidzidzo chekurara.

Pane mushonga wakakwana weizvi here?

Kutaura zvazviri, pari zvino hapana mushonga wePhelan-McDermid syndrome. Chinangwa chikuru chekurapa ndechekudzora zviratidzo zvemwana, kumubatsira kuti ashande zvakanaka, uye kudzivirira chero matambudziko angamuka.

Chikwata chekuchengeta mwana wenyu chinogona kusanganisira nyanzvi dzakasiyana-siyana, kusanganisira:

• Chiremba wemwoyo
• Chiremba wezvematumbu
• Chiremba wezvirwere zvetsinga
• Chiremba wetsinga
• Murapi wezvemabasa: Munhu anobatsira vanhu kuita mabasa ezuva nezuva akadai sekudya nekunyora.
• Chiremba wemapfupa (nyanzvi yemapfupa nemajoini)
• Murapi wemuviri: Munhu anobatsira kusimbisa nhengo dzemuviri dzinenge dzakuvara.
• Nyanzvi yekutaura/mutauro
• Chiremba weEndocrinologist

Rangarirai kuti nyanzvi idzi dzese dziri kushanda pamwe chete kuti dzipe mwana wenyu rubatsiro rwakanakisisa.

Mamiriro ezvinhu aya anogona kudzivirirwa here?

Kana munhu aonekwa kuti ane chirwere ichi, pari zvino hapana nzira yekugadzirisa shanduko dzemajini. Zvisinei, kana mumwe wevabereki ainewo chirwere ichi, pane dzimwe nguva apo tekinoroji yeIVF kana bvunzo dzepamuviri dzinogona kushandiswa kudzivirira kuti zvisaitike kuvana vemangwana.

Kana iwe kana mumwe munhu mumhuri yako aine chirwere ichi, zvakakosha kutaura nachiremba kana nyanzvi yezvemajini . Vanogona kukutsanangurira kuti vana vako vanogona kugara nhaka chirwere ichi.

Ramangwana richava rakaita sei kana mwana wangu aine chirwere ichi?

Izvi hazvifanani kumwana wese. Zvinoenderana nerudzi rwekuremara kwemwana uye kuti kwakakomba sei.

Migumisiro yechirwere ichi haiwanzo tyisidzira hupenyu. Zvisinei, vanhu vazhinji vane chirwere ichi vangada rubatsiro rwehutano rwehupenyu hwavo hwese uye rutsigiro rwemagariro evanhu. Nokudaro, rudo, kunzwisisa, uye rutsigiro rwemhuri zvakakosha zvikuru kuvana ava.

Unochengeta sei mwana akadai?

Zvakakosha kuenda nemwana wako kunoona chiremba wepfungwa kuti awedzere kugona kwake. Sezvo mwana wako angave asina simba rekuyaruka, ziva zvinotevera:

• Dzivisa kupisa kwakanyanya .
• Ipa mwana mvura yakawanda yekunwa (mudzivirire kuti asapererwe nemvura mumuviri).
• Dzivirirai kubva kuzuva rakananga .

Nekuti vanhu vazhinji vane chirwere chePhelan-McDermid vane marwadzo akawanda uye vanoomerwa nekutaura kusanzwa zvakanaka kwavo, tarisa zviratidzo zvekuti mwana wako ari kurwadziwa . Kana ukaona chimwe cheizvi, fonera chiremba wako. Vanogona kukubatsira kuona kana mwana wako ari kurwadziwa nemudumbu kana chimwe chinhu. Zviratidzo zvekurwadziwa zvinogona kusanganisira:

• Kuva akanyarara kupfuura zvakajairika, kusanyanya kushamwaridzana nevamwe.
• Kufema nekukurumidza kupfuura zvakajairwa.
• Kuchema kana kusagadzikana kupfuura zvakajairika.
• Kubata zvakasimba pamubhedha kana zvinhu zviri pedyo.
• Kuchengetedza muviri, maoko, nemakumbo zvakasimba uye zvisingafambi.
• Kuratidza kurwadziwa kwechiso (semuenzaniso, kuvhara maziso zvakasimba, kudzvanya miromo).
• Kuchema kana kuchema.

Chii chimwe chaungabvunza chiremba?

Kana mwana wako aine chirwere chePhelan-McDermid, unogona kubvunza chiremba mibvunzo iyi:

• Kubviswa kwechromosome uku kwakagarwa nhaka here kana kuti kungoitikawo zvisina tsarukano?
• Mwana wangu ane matambudziko akadai semwoyo, itsvo, kana kuti uropi here?
• Kuremara kwepfungwa kwemwana wangu kunokanganisa zvakadini?
• Vanachiremba verudzii vanofanira kushanyirwa nemwana wangu? Kangani?
• Pane mapoka ekutsigirana anogona kutibatsira kurarama nedambudziko iri here?
• Munokurudzira mazano ezvemajini here?
• Mhuri yedu yese inofanira kuongororwa majini here?

Pakupedzisira, ndinofanira kutaura kuti...

Phelan-McDermid Syndrome chirwere chisingawanzoitiki chemajini. Chinogona kukonzera kunonoka kwekutaura nekukura, pamwe ne autism spectrum disorder. Kana mumwe munhu mumhuri yako akaonekwa aine chirwere ichi che chromosome deletion syndrome, usatya . Chikwata chenyanzvi chinogona kukubatsira iwe nemwana wako. Zvinangwa zvikuru pano ndezvekuvandudza mashandiro emwana wako, kudzivirira matambudziko angangoitika, uye kupa mazano ezvemajini kana zvichidikanwa. Hausi wega , uye kune vanhu vazhinji vanogona kukubatsira parwendo urwu.