Mwana wenyu ane zviratidzo izvi here? Ngatidzidzei nezveCohen Syndrome.

Wakambozvibvunza here kuti sei vamwe vana vachizvibata uye vachikura zvakasiyana nevamwe? Dzimwe nguva, kunyange zvinhu zvidiki zvinogona kuva nenyaya huru. Nhasi, tichataura nezvechirwere chemajini chinokanganisa zvinhu zvakawanda muvana, zvakaita sechitarisiko chavo, kukura kwavo, uye simba retsandanyama. Chirwere ichi chinonzi Cohen Syndrome.

Chii chinonzi Cohen Syndrome?

Zvichitaurwa zviri nyore, Cohen Syndrome chirwere chinokonzerwa nekuchinja kwemajini. Chinogona kukanganisa nhengo dzakawanda dzemuviri, kusanganisira kuona, kukura kwemwana, kusimba kwetsandanyama, uye kugona kwepfungwa. Chinogonawo kukonzera zviratidzo zvemuviri zvakaita semusoro mudiki, bvudzi gobvu, uye hurefu hupfupi.

Vana vanozvarwa vaine chirwere ichi vane kunonoka kukura . Izvi zvinoreva kuti zvinhu zvakaita sekukunguruka, kufamba, uye kutaura zvinogona kunonoka kupfuura zvaitarisirwa. Semuenzaniso, kunyange zvazvo mwana weshamwari yako angangokunguruka pamwedzi mitanhatu, mwana ane chirwere ichi anogona kutora nguva yakareba. Zvisinei, pasinei nekunonoka uku, vana ava vanowanzova vanyoro, vanofara, uye vanoshamwaridzana. Vane rudo rukuru pavanonyemwerera uye pavanotaura.

Izvi zvinokonzerwa nekuchinja kwemajini, uye parizvino hapana mushonga. Kunyangwe vanhu vazhinji vane Cohen Syndrome vachirarama hupenyu hwakajairwa, vanoda rutsigiro muhupenyu hwavo hwese.

Chirwere ichi chinonzi Cohen Syndrome chakajairika zvakadii?

Kutaura zvazviri, Cohen Syndrome haisi chirwere chinowanzoitika. Dzimwe ongororo dzinoratidza kuti vanhu vasingasviki chiuru pasi rose vakaonekwa vaine chirwere ichi. Zvisinei, sezvo chirwere ichi chisingawanzoonekwa, nhamba chaiyo inogona kunge yakakwira zvakanyanya. Saka, zvakakosha kuziva nezvezvirwere izvi.

Ndezvipi zviratidzo zveCohen Syndrome?

Kune zviratidzo zvakawanda zveCohen Syndrome. Zvakakosha kuyeuka kuti havasi vese vane zviratidzo zvese. Ngatitarisei zviratidzo zvikuru zvinogona kuonekwa:

• Matambudziko ekukura kwepfungwa: Izvi zvinoreva kuti zvinotora nguva yakati rebei kudzidza nekunzwisisa zvinhu. Ungangoda rubatsiro rwakawedzerwa nebasa rechikoro.
• Kushaya simba kwetsandanyama (hypotonia): Kunzwa kushaya simba kana kuremara mumuviri. Izvi zvinogona kunzwikwa kunyangwe pakusimudza mwana.
• Kufamba-famba: Kuchinjika kwakanyanya kwemajoini. Vamwe vana vanogona kukotamisa makumbo avo nenzira dzisinganzwisisike.
• Myopia (kuona zviri pedyo) inowedzera nekukura: Kuona zvinhu zviri pedyo asi usingaoni zvinhu zviri kure zvakajeka. Izvi zvinowedzera nekukura, saka zvakakosha kuti ugare uchiongororwa maziso.
• Kukuvara kwemaziso kunobatsira kuona zvakanaka kana kuti kukuvadzwa kwemaziso: Kukuvara kwechikamu cheziso chinobatsira kuona zvakanaka. Izvi zvinogona kukonzera kurasikirwa nekuona zvishoma nezvishoma.

Zviratidzo zvinogona kuonekwa nevana vacheche

Unogona kuona zvinhu zvakaita seizvi muvana vacheche vachangoberekwa:

• Kuoma pakuyamwisa: Kuoma pakuyamwisa mwana.
• Kuchema kusina simba kana kuti kwakakwirira: Kuchema kwemwana kunogona kusiyana, kusina simba pane zvakajairika.
• Kutadza kufema: Mwana anotadza kufema.
• Kuomerwa nekuwedzera uremu: Huremu hwemwana hausi kuwedzera zvakanaka.

Zvakakosha: Kana mwana wako achinetseka kufema kana kuti achiita seari kuchinja ruvara rwebhuruu, fonera 119 kana nhamba yako yekukurumidzira yemuno nekukasika womuendesa kuchipatara.

Kunonoka kukura uye maitiro

Vana vangada nguva yakawanda yekudzidza nekukura kupfuura vamwe vezera ravo. Kunonoka uku kwekukura kunogona kutanga vachiri vacheche. Semuenzaniso, zvinhu zvakaita sekukunguruka nekugara vega zvinogona kunonoka. Mwana wako anogona kutanga kufamba mushure memakore maviri, asi asati asvitsa makore mashanu. Zvinogonawo kutora nguva kuti atange kutaura.

Kunyangwe chirwere ichi chichigona kukonzera mamwe matambudziko ehunhu , sezvambotaurwa, vana vazhinji vanofara uye vanoda kushamwaridzana nevamwe. Vanoda kushamwaridzana nevamwe uye kutamba nevamwe.

Asi yeukai, zviratidzo izvi hazviitike kumwana wese nenzira imwe chete. Vamwe vana vanogona kunge vasina zviratidzo izvi zvese.

Ndezvipi zviratidzo zvemuviri zveCohen Syndrome?

Kune zviratidzo zvakawanda zvechiso nemuviri zvinowanikwa muvana vane Cohen Syndrome. Zvimwe zvacho zvinoonekwa pakuzvarwa, nepo zvimwe zvichionekwa pavanokura.

Zvimiro zvechiso:

• Microcephaly: Musoro mudiki pane zvakajairika.
• Vhudzi gobvu, tsiye gobvu, uye tsiye refu.
• Maziso akatsveyama pasi (mitswe yakaita semafungu epalpebral): Maziso emaziso ane chimiro chakaita semafungu.
• Muromo wemhino wakatenderera.
• Kureba kupfupi pakati pemhino nemuromo wepamusoro (philtrum).
• Mazino ekumusoro anobuda.
• Nzeve hombe.

Humwe hwehunhu uhwu hunoonekwa zvakanyanya kana mwana achikura, kazhinji mushure memakore mashanu.

Mamwe maitiro emuviri:

Pamusoro pezvo, zvimwe zviratidzo zvemuviri zvinogona kuoneka panguva yehudiki uye mushure mezvo. Izvi zvinosanganisira:

• Kuisa mafuta zvisina kujairika munzvimbo yehunde uye kutetepa kwemakumbo: Izvi zvinoreva kuti chikamu chepakati chemuviri (chakakomberedza dumbu) chinokura uye makumbo anotetepa.
• Mupfupi.
• Kunonoka kuyaruka.
• Machende asina kudzika muvakomana.
• Kukombama kwemusana (scoliosis kana kyphosis).

Ndezvipi zvimwe zvirwere zvinogona kuitika neCohen Syndrome?

Vana vanoonekwa vaine chirwere cheCohen Syndrome vari panjodzi yakakura yekubatwa nezvimwe zvirwere zvinokanganisa masoja avo ekudzivirira chirwere. Zvakakosha kuziva izvi zvakare.

• Neutropenia: Uku kudzikira kwerudzi rwemasero machena eropa (anonzi ma neutrophils) mumuviri. Ma neutrophils aya anorwisa utachiona nehutachiona hunopinda mumiviri yedu. Saka kana izvi zvikaderera, tinogona kurwara zviri nyore. Tinogona kugara tichirwara nefivha, dzihwa, nezvimwe zvirwere.
• Zvirwere zve autoimmune: Izvi zvinoreva kuti masoja emuviri anorwisa masero ane hutano mumuviri. Funga nezvazvo seuto redu richitirwisa. Mienzaniso inosanganisira chirwere cheshuga, chirwere chethyroid, uye chirwere checeliac (allergies kune protein gluten).

Chii chinokonzera chirwere cheCohen?

Cohen Syndrome inokonzerwa nekuchinja kwejini reVPS13B (rinozivikanwawo sejini reCOH1) . Zvichitaurwa zviri nyore, idambudziko riri mujini riri mumuviri wedu.

Fungidzira, mukati memiviri yedu mune chimwe chinhu chinonzi Golgi apparatus . Zvakafanana nefekitori yekurongedza mapuroteni. Kana puroteni itsva yagadzirwa, muviri wedu unotumira zvinhu zvisina kugadzirwa kuGolgi apparatus, uko kunogadziriswa zvimwe uye kunosanganiswa nemamwe mapuroteni akafanana kuti arongwe. Mushure mekunge shanduko idzi dzaitwa, Golgi apparatus inorongedza mapuroteni nemirairo yawo uye inoatumira kunzvimbo yawo chaiyo.

Gene reVPS13B rinoita glycosylation , inova ndiyo nzira iyo mamorekuru eshuga anonamirwa kumapuroteni. Rinobatsirawo kuronga nekutumira masaini kuma neuron nemasero emafuta (adipocytes) .

Saka, kana paine shanduko mujini reVPS13B, zvinoita sekunge fekitari iyoyo haigone kushanda nemazvo. Izvi zvinoreva kuti haigone kugadzira zvigadzirwa zvemhando yepamusoro. Ndizvo zvinotungamira kuzviratidzo zveCohen Syndrome.

Ko Cohen Syndrome inogarwa nhaka here?

Ehe, Cohen Syndrome chirwere chinogara nhaka. Chirwere ichi chinotapuriranwa nenzira ye autosomal recessive pattern.Kana izvi zvichiita sekunge zvakaoma kunzwisisa, funga nezvazvo nenzira iyi: Mwana anowana chirwere ichi paanogara nhaka makopi maviri ejini rakakanganisika rinorikonzera (rimwe kubva kuna amai vake nerimwe kubva kuna baba vake). Vabereki venyama vanogona kuva vatakuri vejini. Izvi zvinoreva kuti havana chirwere ichi nekuti vane kopi imwe chete yejini rakakanganisika. Imwe kopi ine hutano. Zvisinei, kana vaviri vanotakura chirwere ichi vakabatana, pane mukana wekuti mwana wavo achava nechirwere ichi.

Ndiani ari panjodzi huru yeizvi?

Cohen Syndrome inogona kukanganisa chero munhu. Zvisinei, chirwere ichi chinowanzoitika mune mamwe mapoka evanhu. Semuenzaniso:

• Vanhu veAmish
• Vanhu vekuFinland
• Vanhu verudzi rwechiGiriki (Mediterranean)
• Vanhu verudzi rweIrish

Kunyangwe izvi zvisiri zvakakosha kwatiri muSri Lanka, zvakanaka kuziva.

Ndezvipi zvinetso zvinogona kuitika zveCohen Syndrome?

Cohen Syndrome inogona kukonzera matambudziko anotevera:

• Kutapukirwa kunowanzoitika, senge hutachiona hwenzeve yepakati (otitis media) (nekuda kwekushomeka kwekudzivirira muviri nekuda kwe neutropenia)
• Matambudziko ehutano hwemazino nemuromo akadai se gingivitis nemaronda emudumbu .
• Matambudziko emaziso ari kuwedzera.
• Kuremara kwepfungwa pamatanho akasiyana-siyana.

Cohen Syndrome inoonekwa sei?

Chiremba anogona kuona chirwere cheCohen Syndrome mushure mekuongororwa muviri uye mimwe miedzo. Semubereki, kana uchinzwa sekuti mwana wako haasi kusvika padanho rekukura rakakodzera zera rake (semuenzaniso, kusanyemwerera, kusapindura ruzha, kusagumburika, kusataura sevamwe vana), ona chiremba wemwana wako. Ichi chingave chiratidzo chekutanga chechirwere ichi.

Kuongororwa kweCohen Syndrome dzimwe nguva kunogona kuoma nekuti zviratidzo zvayo zvinogona kufanana nezvimwe zvirwere zvakawanda. Kuongororwa kunogona kubatsira chiremba wako kuti asaone zvirwere izvi. Kuongororwa kweropa nemajini kunogona kuona shanduko yemajini inokonzera zviratidzo izvi.

Cohen Syndrome inorapwa sei?

Parizvino hapana mushonga weCohen Syndrome. Kurapa kwacho kwakanangana nekudzivirira zviratidzo uye kubatsira mwana kurarama zvakanaka sezvinobvira. Izvi zvinogona kusanganisira:

• Zvirongwa zvedzidzo zvekubatsira mwana panguva yekuzvitakura: Zvirongwa zvakakosha zvinobatsira kukura nekudzidza kwemwana.
• Kurapa Kwebasa: Kurapa kunokubatsira kuita mabasa ezuva nezuva (akadai sekudya, kupfekedza, uye kutamba) uri wega.
• Kurapa muviri: Kurapa kunobatsira kuvandudza kufamba kwemuviri uye kusimba kwemhasuru. Izvi zvakakosha zvikuru kune hypotonia.
• Kurapa nekutaura: Kurapa kunobatsira kukudziridza kugona kutaura nekutaurirana nevamwe.
• Kupfeka magirazi kana kurovedza muviri kuti usanyatsoona zvakanaka.

Neutropenia inokonzerwa neCohen Syndrome inowanzo rapa nekubaya mushonga unonzi Granulocyte-Colony Stimulating Factor (G-CSF) pasi peganda. Izvi zvinokurudzira mupfupa kuti ugadzire masero machena eropa akawanda, izvo zvinoderedza njodzi yehutachiona.

Kana mwana wako achigara achirwara, chiremba achamupa mishonga inorwisa mabhakitiriya kuti imurape sezvinodiwa.

Munhu ane Cohen Syndrome anotarisirwa kurarama kwenguva yakareba sei?

Nekuti Cohen Syndrome haisi chirwere chinowanzoitika, hapana humbowo hwakakwana hwekutaura kuti chinokanganisa sei hupenyu hwemunhu. Kunyange hazvo vanhu vazhinji vane chirwere ichi vachirarama hupenyu hwakajairwa, havasi vese vanorarama. Izvi zvinogona kukanganisa hupenyu hwemwana, kunyanya kana mwana wako aine zvimwe zvirwere zvinokanganisa masoja emuviri (zvakadai sekutapukirwa kwakawanda, kwakanyanya).

Chii chinonzi fungidziro yeCohen Syndrome?

Cohen Syndrome inogona kukanganisa zvinhu zvakawanda muhupenyu hwemwana wako. Zvisinei, kana mwana wako akarapwa zvakanaka uye akatarisirwa nerudo, anogona kunge aine fungidziro yakanaka yekuti acharwara.

Chiremba anokurudzira nzira dzakasiyana-siyana dzekurapa dzinoenderana nezviratidzo zvavo. Izvi zvinogona kusiyana kubva kumunhu kusvika kumunhu. Kurapa kunowanzo sanganisira kurapwa uye mapurogiramu ekudzidzisa. Izvi zvinobatsira mwana kusvika padanho rekukura rakakodzera zera rake.

Mwana wako anogona kunge aine matambudziko ekuona uye matambudziko emazino. Izvi zvinowanzotanga paanosvika zera rechikoro. Saka, ramba uchiona nyanzvi yemaziso , chiremba wemazino, nevamwe vanotarisira hutano kuti vaongorore zviratidzo zvavo sezvavanokura.

Ko Cohen Syndrome inogona kudzivirirwa here?

Nekuti Cohen Syndrome chirwere chemajini, hapana nzira yekudzivirira . Kana uri kuronga kutanga mhuri, uye mumwe munhu mumhuri yako ane chirwere ichi chemajini, kana kuti kana uchida kuziva nezvenjodzi yako yekuva nemwana ane chirwere chekuzvarwa nacho chakadai seCohen Syndrome, zvakakosha zvikuru kutaura nemupi wehutano hwako nezvekuongorora/kupa mazano nezvemajini .

Ndinofanira kuona chiremba rini?

Semuchengeti wemwana wako, unomuziva zvakanyanya. Kana ukaona chimwe chinhu chisingawanzoitika kana chisingawanzoitika mukukura kwake kana kukura kwake, taura nachiremba wake. Usatya kutaura nezvazvo, kunyangwe chiri chinhu chidiki.

Nyatsoteererai matanho ekukura kwemwana wenyu. Zvakajairika kuti vana vanoonekwa vaine chirwere cheCohen Syndrome vatore nguva yakareba kuti vasvike pamatanho ekukura akadai sekugumburwa nekutaura mashoko avo ekutanga. Chiremba wenyu anogona kukutungamirai kuti mungabatsira sei mwana wenyu panguva iyi.

Dambudziko! Kana mwana wako achinetseka kufema, kana kuti aine ganda rakachenuruka kana rebhuruu nenzara, fonera vezvekukurumidzira nekukasika.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Paunenge uchitaura nachiremba nezvemwana wako, zvinogona kubatsira kubvunza mibvunzo yakaita seiyi:

• Chii chandinofanira kuita kana mwana wangu asina matanho ekukura?
• Ndezvipi zviratidzo zvandinofanira kutarisa?
• Ndeapi marapirwo amunokurudzira?
• Pane migumisiro yakaipa here yekurapwa kwacho?
• Ndingabatsira sei mwana wangu kuti abudirire kuchikoro?
• Pane mamwe mapoka evabereki kana masangano atinogona kusvika nawo kuti atibatsire here?

Cohen Syndrome Autism here?

Kwete. Autism Spectrum Disorder (ASD) chirwere chinokonzerwa netsinga dzemuviri . Cohen Syndrome chirwere chemajini. Izvi zviviri hazvina kufanana. Zvisinei, vana vazhinji vanoonekwa vaine Cohen Syndrome vanogona kunge vaine zviratidzo zvakafanana neautism (ASD) (semuenzaniso, matambudziko emagariro evanhu, maitiro anodzokorora), kana kuti vanogona kunge vaine ASD pamwe chete neCohen Syndrome. Chiremba anogona kutsanangura izvi zvakajeka.

Pakupedzisira, zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakajairika kunzwa kushushikana uye kusuruvara kana mwana wako asiri kusvika padanho rezera rake. Zvinogonawo kuwedzera kushushikana sezvo vanachiremba vachiita bvunzo kuti vaone zviri kuitika. Zvisinei, kunyange zvazvo Cohen Syndrome iri chirwere chisingawanzoitiki, vanachiremba vari kudzidza zvakawanda nezvechirwere ichi uye maitiro ekurapa nacho zuva nezuva.

Zvirongwa zvekupindira nekukurumidza zvinogona kubatsira mwana wako kuzadzisa zvinangwa zvake zvekukura, kunyangwe zvichitora nguva yakareba kupfuura vamwe vezera rake. Sezvo Cohen Syndrome ichigonawo kukanganisa kugona kwepfungwa dzemwana, achada rudo rwako, rutsigiro, uye rubatsiro muhupenyu hwake hwese.

Usambonzwa seuri wega.Vanachiremba, varapi, nemamwe mapoka ekutsigirana varipo kuti vakubatsire iwe nemwana wako. Bvunza mibvunzo yako, taurawo manzwiro ako. Tinokushuvira simba rekupa mwana wako zvakanakisisa!

` Cohen Syndrome, Zvirwere zveMajini, Kunonoka Kwekukura, Hutano hweVana, Neutropenia, Microcephaly, Hypotonia