Down chirwere

Down syndrome inzvimbo yemaruva umo munhu ane makumi mana echromosomes panzvimbo peyakajairika 46.

Muzviitiko zvakawanda, Down syndrome inoitika kana paine imwe kopi yechromosome 21. Iyi fomu ye Down syndrome inonzi trisomy 21. Iyo yekuwedzera chromosome inokonzeresa nematambudziko nenzira iyo muviri nehuropi zvinokura.

Down syndrome ndechimwe chezvikonzero zvakajairika zvekuremara kwekuberekwa.

Down syndrome zviratidzo zvinosiyana kubva kumunhu kuenda kumunhu uye zvinogona kubva pane zvinyoro kusvika kune zvakanyanya Hazvina mhosva kuti mamiriro acho akanyanya sei, vanhu vane Down syndrome vane chitarisiko chinozivikanwa zvikuru.

Musoro unogona kunge uri mudiki pane zvakajairwa uye wakaumbwa zvisina kujairika. Semuenzaniso, musoro unogona kutenderera uine nzvimbo yakati sandara kumusana. Iyo yemukati kona yemeso inogona kutenderedzwa pane kunongedzwa.

Zviratidzo zvakajairika zvinosanganisira:

• Yakadzikira tsandanyama toni panguva yekuzvarwa
• Ganda rakawandisa panape yemutsipa
• Mhuno yakapetwa
• Akaparadzaniswa majoini pakati pemapfupa ehenya (sutures)
• Chikamu chimwe chete muchanza cheruoko
• Nzeve diki
• Muromo mudiki
• Kumusoro maziso akatsvedza
• Hupamhi, maoko mapfupi nezvigunwe zvipfupi
• Mavara machena pane chikamu cheziso (Brushfield mavara)

Kukura kwemuviri kunowanzo nonoka pane zvakajairwa. Vazhinji vana vane Down syndrome havambosvika paavhareji kureba kwevakuru.

Vana vanogonawo kunge vakanonoka kukura kwepfungwa uye kwehukama. Zvinetso zvakajairika zvinogona kusanganisira:

• Maitiro ekukurumidza
• Kutadza kutonga
• Pfupi kutarisisa span
• Kunonoka kudzidza

Sezvo vana vane Down syndrome vanokura uye vanoziva zvavasingakwanise, vangangonzwawo kunetseka nekutsamwa.

Mamiriro mazhinji akasiyana ekurapa anoonekwa kune vanhu vane Down syndrome, kusanganisira:

• Kuremara kwekuzvarwa kunosanganisira moyo, senge atrial septal kuremara kana ventricular septal kuremara
• Kuora mwoyo kunogona kuonekwa
• Matambudziko eziso, akadai semakata (vana vazhinji vane Down syndrome vanoda magirazi)
• Kurutsa kwekutanga uye kukuru, uko kunogona kuve chiratidzo chekuvharika kwematumbo, senge esophageal atresia uye duodenal atresia
• Kunzwa matambudziko, pamwe anokonzerwa nekudzokorora hutachiona hutachiona
• Matambudziko ehudyu uye njodzi yekuparadzaniswa
• Yenguva refu (isingaperi) matambudziko ekuzvimbirwa
• Kurara kutadza kufema (nekuti muromo, huro, uye nzira yemhepo zvakadzikira muvana vane Down syndrome)
• Mazino anoonekwa mushure memazuva ese uye munzvimbo inogona kukonzera matambudziko nekutsenga
• Utachiona husingashandi (hypothyroidism)

Chiremba anogona kazhinji kuita kuongororwa kweDown syndrome pakuzvarwa zvichibva nekutaridzika kwemwana. Chiremba anogona kunzwa moyo uchin'un'una kana uchiteerera chipfuva chemwana ne stethoscope.

Kuongororwa kweropa kunogona kuitwa kutarisa iyo chromosome yekuwedzera uye kusimbisa kuongororwa.

Mimwe bvunzo inogona kuitwa inosanganisira:

• Echocardiogram uye ECG kutarisa kukanganisa kwemoyo (kazhinji kunoitwa uchangobva kuberekwa)
• X-ray dzechifuva uye nemudumbu

Vanhu vane Down syndrome vanofanirwa kuongororwa zvakanyanya kune mamwe marapirwo. Vanofanira kuva:

• Kuongororwa kweziso gore rega rega panguva yehucheche
• Kunzwa bvunzo pamwedzi mitanhatu kusvika gumi nemiviri, zvinoenderana nezera
• Mazino bvunzo dzese mwedzi mitanhatu
• X-ray yemusoro wepamusoro kana wechibereko musana pakati pemazera matatu nemakore mashanu
• Pap smears uye bvunzo dzechiuno dzinotanga panguva yekuyaruka kana nezera makumi maviri nerimwe
• Kuongorora kwehutachiona mwedzi gumi nemiviri

Iko hakuna chaiwo marapirwo eDown syndrome. Kana kurapwa kuchidikanwa, kazhinji kune kwakanangana nematambudziko ehutano. Semuenzaniso, mwana akazvarwa aine chekuvhara mudumbu anogona kuda kuvhiyiwa kukuru achangoberekwa. Humwe hurema hwemwoyo hunogona zvakare kuda kuvhiyiwa.

Panguva yekuyamwisa, mwana anofanirwa kutsigirwa uye akamuka zvizere. Mwana anogona kuve nekudonha nekuda kwekutadza kudzora rurimi. Asi vacheche vazhinji vane Down syndrome vanogona kuyamwisa zvinobudirira.

Kufutisa kunogona kuve dambudziko kuvana vakura nevakuru. Kuwana yakawanda yekuita uye kudzivirira yakakwira-koriori chikafu kwakakosha. Asati atanga zviitiko zvemitambo, mutsipa wemwana nemuchiuno zvinofanirwa kuongororwa.

Kudzidzira hunhu kunogona kubatsira vanhu vane Down syndrome uye mhuri dzavo kubata nekushushikana, hasha, uye nekumanikidza maitiro anowanzoitika. Vabereki nevachengeti vanofanira kudzidza kubatsira munhu ane Down syndrome kubata nekushushikana. Panguva imwecheteyo, zvakakosha kukurudzira kuzvimiririra.

Vechidiki vasikana nevakadzi vane Down syndrome vanowanzo kwanisa kubata pamuviri. Pane njodzi yakawedzera yekushungurudzwa pabonde uye nedzimwe mhando dzekushungurudzwa mune vese varume nevakadzi. Izvo zvakakosha kune avo vane Down syndrome ku:

• Dzidziswa nezve nhumbu uye kutora matanho akakodzera
• Dzidza kuzvimiririra mumamiriro ezvinhu akaoma
• Iva munzvimbo yakachengeteka

Kana munhu wacho aine chero hurema hwemwoyo kana zvimwe zvinetso zvemwoyo, mishonga inorwisa mabhakitiriya ingangoda kupihwa kudzivirira chirwere chemwoyo chinonzi endocarditis.

Dzidzo yakakosha uye kudzidziswa kunopihwa munharaunda zhinji dzevana vane kunonoka mukukura kwepfungwa. Kurapa kwekutaura kunogona kubatsira kuvandudza hunyanzvi hwemutauro. Kurapa kwepanyama kunogona kudzidzisa hunyanzvi hwekufamba. Basa rekurapa rinogona kubatsira nekudyisa uye kuita mabasa. Kuchengetwa kwepfungwa kunogona kubatsira vese vabereki pamwe nemwana kugadzirisa matambudziko emamiriro kana ehunhu. Vadzidzisi vakakosha vanowanzodiwa.

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve Down syndrome:

• Nzvimbo dzeDzidziso Kudzora nekudzivirira - www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• National Down Syndrome Society - www.ndss.org
• National Down Syndrome Congress - www.ndsccenter.org
• NIH Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/down-syndrome

Kunyangwe vana vazhinji vane Down syndrome vane ganhuriro dzomuviri nepfungwa, vanogona kurarama hupenyu hwakazvimiririra uye hune zvibereko kusvika mukukura.

Inenge hafu yevana vane Down syndrome vanozvarwa vaine matambudziko emoyo, kusanganisira atrial septal defect, ventricular septal defect, uye endocardial cushion hurema. Zvinetso zvakakomba zvemwoyo zvinogona kutungamira kurufu rwekutanga.

Vanhu vane Down syndrome vane njodzi yakawandisa yemamwe marudzi eleukemia, ayo anogona zvakare kukonzera kufa kwekutanga.

Chiyero chekuremara kwepfungwa zvinosiyana, asi kazhinji zvine mwero. Vakuru vane Down syndrome vane njodzi yekuwedzera kuora mwoyo.

Anopa rubatsiro rwehutano anofanirwa kubvunzwa kuti aone kana mwana achida dzidzo yakakosha uye kudzidziswa. Zvakakosha kuti mwana agare achiongororwa nachiremba.

Nyanzvi dzinokurudzira kurairwa kwemajini kuvanhu vane nhoroondo yemhuri yeDown syndrome vanoshuvira kuve nemwana.

Ngozi yemukadzi yekuve nemwana ane Down syndrome inowedzera paanokura. Iyo njodzi yakanyanya kukwirira pakati pevakadzi vane makore makumi matatu nemashanu zvichikwira.

Vakaroorana vanotova nemwana ane Down syndrome vane njodzi yakawedzera yekuve nemumwe mwana ane chirwere ichi.

Kuyedzwa senge nuchal translucency ultrasound, amniocentesis, kana chorionic villus sampling inogona kuitwa pamucheche mukati memwedzi mishoma yepamuviri yekutarisa Down syndrome.

Trisomy 21

Bacino CA, Lee B. Cytogenetics. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 98.

Driscoll DA, Simpson JL, Holzgreve W, Otano L. Kuongorora kweGenetic uye prenatal genetic kuongororwa. Mune: Gabbe SG, Niebyl JR, Simpson JL, et al, eds. Obstetrics: Yakajairwa uye Dambudziko Pamuviri. 7th ed. Philadelphia, PA: Elsevier; 2017: chits.

Nussbaum RL, McInnes RR, Willard HF. Iyo chromosomal uye genomic hwaro hwechirwere: kusagadzikana kwema autosomes uye echromosomes ebonde. Mune: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson na Thompson Genetics muMushonga. 8th ed. Philadelphia, PA: Elsevier; 2016: chits.