Down Syndrome ndeye chii? Zviratidzo, Zvinokonzera, & Kurapa

Down syndrome chirwere chemagene chinoitika kana munhu aberekwa aine kopi yakawedzerwa ye chromosome 21. Iyi genetic material yakawedzerwa inochinja maitiro emuviri wemwana nepfungwa dzichibudirira, zvichiita kuti pave nekusiyana kwemuviri nepfungwa.

Anenge 1 pamwana 700 muUnited States anoberekwa aine Down syndrome, zvichiita kuti ive chirwere che chromosome chinonyanya kuzivikanwa. Vanhu vane Down syndrome vanogona kurarama hupenyu hunogutsa, hwakazvimiririra ne rubatsiro rwakakodzera nekutarisirwa.

Down Syndrome ndeye chii?

Down syndrome inoitika kana masero aine makromosome 47 panzvimbo ye46 dzakajairwa. Iyo yakawedzerwa chromosome 21 inokanganisa maitiro emuviri unokura uye anoshanda kubva pakuberekwa.

Iyi mamiriro ezvinhu akatsanangurwa kekutanga naDr. John Langdon Down muna 1866, ndiko kwaakawana zita rayo. Nhasi, tinoziva kuti iyi genetic variation inongoitikawo, inogona kuitika kumhuri ipi neipi, pasinei nevara, rudzi, kana mamiriro ezvemari.

Vanhu vane Down syndrome vanogovana zvimwe zviratidzo zvemuviri, asi munhu wese akasiyana ane hunhu hwake, mano, uye mukana. Vakawanda vanorarama hupenyu hwakazvimiririra, vane mabasa, vanoumba hukama, uye vanopa zvakanyanya munharaunda dzavo.

Ndeapi Marudzi eDown Syndrome?

Kune marudzi matatu makuru eDown syndrome, imwe neimwe inokonzerwa nekusiyana kwemagene. Rudzi runonyanya kuzivikanwa runokanganisa anenge 95% evanhu vane mamiriro acho.

Trisomy 21 ndiro rudzi runonyanya kuitika, uko masero ese emuviri ane makopi matatu e chromosome 21 panzvimbo pembiri. Izvi zvinoitika panguva yekugadzirwa kwemasero anobereka uye zvinoreva zviitiko zvizhinji.

Translocation Down syndrome inoitika kana chikamu che chromosome 21 chakabatana neimwe chromosome. Uyu rudzi runokanganisa anenge 3-4% evanhu vane Down syndrome uye dzimwe nguva inogona kuwanikwa kubva kumubereki.

Mosaic Down syndrome ndiro rudzi rwakasiyana, rinokanganisa anenge 1-2% evanhu. Murudzi urwu, mamwe masero ane chromosome 21 yakawedzerwa nepo mamwe asingadaro, izvo zvinogona kukonzera zviratidzo zvishoma.

Ndeapi Zviratidzo zveDown Syndrome?

Down syndrome inokanganisa vanhu nenzira dzakasiyana, asi kune zvimwe zviratidzo zvemuviri uye zvekusimukira zvaunogona kuona. Hapana munhu wese achava nezvese izvi zviratidzo, uye zvinogona kubva pazvishoma kusvika kune zvinonyanya kuoneka.

Zviratidzo zvemuviri kazhinji zvinosanganisira:

• Maziso akafanana neeamond anokwira kumusoro
• Chiso chakatsetseka uye mhuno yakadzika
• Nzeve diki nomukanwa
• Rurimi rwakabuda
• Mutsipa mupfupi uye kukwirira kwakapfupika
• Makoma madiki ane crease imwe chete pamucheto weruoko
• Muscle tone yakasununguka (inodaidzwa kuti hypotonia)
• Joints dzakasununguka

Aya maitiro emuviri kazhinji haana ngozi uye ingori chikamu chekuti Down syndrome inokanganisa sei chitarisiko. Muscle tone yakasununguka, zvisinei, inogona kukanganisa kufamba nekusimukira mumakore ekutanga.

Kusiyana kwekusimukira kazhinji kunosanganisira:

• Intellectual disability kubva pazvishoma kusvika pakati
• Kukanganisika kwekutaura nekutaura
• Kusimukira kwakaderera kwemota (kugara, kufamba, hunyanzvi hwemota)
• Kusiyana kwekuverenga kunokanganisa ndangariro nekuita
• Matambudziko ekutarisa

Yeuka kuti aya matambudziko haatsananguri mukana wemunhu. Nerubatsiro rwakakodzera, kurapwa, uye dzidzo, vanhu vane Down syndrome vanogona kuita zvinhu zvinoshamisa uye kurarama hupenyu hunogutsa.

Chii Chinokonzera Down Syndrome?

Down syndrome inoitika nekuda kwechikanganiso panguva yekugovera masero izvo zvinoita kuti pave ne chromosome 21 yakawedzerwa. Izvi zvinoitika zvisingatarisirwi uye zvisingaonekwi panguva yekugadzirwa kwemasero anobereka.

Chikonzero chinonyanya kuitika chinonzi "nondisjunction," zvinoreva kuti makromosome haasi kuparadzana zvakanaka panguva yekugovera masero. Kana izvi zvikaitika mumuviri wezai kana sperm, mwana anoberekwa ane makopi matatu e chromosome 21 panzvimbo pembiri dzakajairwa.

Iyi genetic change haina kukonzerwa nechinhu chakaitwa kana chisina kuitwa nevabereki. Haisi yakabatana nezvokudya, mararamiro, zvinhu zvakatipoteredza, kana chimwe chinhu chakaitika panguva yekuzvitakura.

Muitiko ushoma unosanganisira translocation Down syndrome, mubereki mumwe angave aine chromosome yakarongedzwa zvakasiyana iyo inowedzera mukana wekuva nemwana ane Down syndrome. Zvisinei, zviitiko zvizhinji zvinoitika zvisingatarisirwi pasina nhoroondo yemhuri.

Ndeapi Zvinokonzera Ngozi zveDown Syndrome?

Chinokonzera ngozi huru yeDown syndrome ndeyekukwegura kwamai, kunyange vana vane mamiriro aya vanoberekwa kunaamai vezera rose. Kunzwisisa izvi zvinhu zvinogona kukubatsira kuita sarudzo dzakakodzera pamusoro pekutarisirwa kwepakutanga.

Zvinokonzera ngozi zvinokosha zvinosanganisira:

• Zera raamai rinopfuura 35 (ngozi inowedzera zvishoma nezera)
• Mwana akapfuura ane Down syndrome
• Kuve mutariri we genetic translocation (kushoma)
• Zera rababa rinopfuura 40 (kuwedzera kushoma kwenjodzi)

Zvakakosha kunzwisisa kuti kuva nezvinokonzera ngozi hazvirevi kuti mwana wako achava neDown syndrome. Vana vazhinji vane Down syndrome vanoberekwa kunaamai vaduku, uye vanaamai vakawanda vakwegura vane vana vasina mamiriro ezvinhu e chromosome.

Ngozi inowedzera nezera raamai nekuti mazai ekukwegura ane mukana mukuru wekuva nemakanganiso panguva yekugovera masero. Pazera ra35, njodzi iri anenge 1 mu350, nepo pazera ra45, iri anenge 1 mu30.

Ndeapi Matambudziko Anogona Kuitika muDown Syndrome?

Vanhu vane Down syndrome vanogona kusangana nematambudziko ehutano muhupenyu hwavo hwese, asi mazhinji acho anogona kutarisirwa zvakanaka nekutarisirwa kwakakodzera kwemishonga. Kuongororwa nguva dzose uye kuita zvinhu pakutanga kunoita musiyano wakakura.

Matambudziko ehutano akajairika anosanganisira:

• Matambudziko emwoyo (aripo muanenge 40-50% yevana)
• Matambudziko ekunzwa uye kuwanda kwezvirwere zvekunzwa
• Matambudziko ekutarisa anosanganisira cataracts uye refractive errors
• Sleep apnea nekuda kwekusiyana kwemukati
• Matambudziko e thyroid
• Matambudziko ekugaya senge kuvimbiswa kana chirwere che celiac
• Kuwedzera kwekugamuchira zvirwere

Aya mamiriro ezvinhu anonzwa achitya, asi yeuka kuti mazhinji acho anogona kurapwa zvakanaka. Matambudziko emwoyo, semuenzaniso, anogona kugadziriswa nekuvhiya, achibvumira vana kurarama hupenyu hunoshanda, hune hutano.

Matambudziko asingawanzoitika asi ane ngozi anogona kusanganisira:

• Intellectual disability yakakomba
• Leukemia (ngozi yakakwira zvishoma)
• Chirwere cheAlzheimer's (ngozi yakawedzera muvakuru vakwegura)
• Atlantoaxial instability (kusagadzikana kwemutsipa)
• Matambudziko emwoyo akakomba anoda kuvhiya kakawanda

Kuongororwa kwemishonga nguva dzose kunobatsira kubata aya matambudziko pakutanga apo ari kurapika zvikuru. Boka rako rekutarisira hutano richaita chirongwa chekutarisira chakagadzirirwa zvinodiwa nemwana wako.

Down Syndrome Inoziviswa Sei?

Down syndrome inogona kuonekwa usati waberekwa kuburikidza nekuongorora kana kusimbiswa kuburikidza nekuongorora. Mushure mekuberekwa, vanachiremba vanogona kuziva mamiriro acho zvichienderana nezviratidzo zvemuviri uye kusimbisa nekuongorora kwemagene.

Panguva yekuzvitakura, kuongorora kunogona kuratidza njodzi yakawedzerwa asi hakungagoni kuziva Down syndrome. Izvi zvinosanganisira bvunzo yeropa inoyerera mapuroteni nemahomoni, pamwe nekuongororwa kwe ultrasound kunotarisa zviratidzo zvemuviri.

Kuongorora kunopa mhinduro dzakajeka nekutarisa makromosome zvakananga. Amniocentesis ne chorionic villus sampling (CVS) inogona kusimbisa Down syndrome panguva yekuzvitakura, kunyange zvazvo ine njodzi shoma yekukanganisa.

Mushure mekuberekwa, vanachiremba vanowanzo funga kuti Down syndrome zvichienderana nezviratidzo zvemuviri uye maitiro ekusimukira. Bvunzo iri nyore yeropa inonzi karyotype inogona kusimbisa chirwere icho nekuratidza chromosome 21 yakawedzerwa.

Kurapa kweDown Syndrome ndekupi?

Pasinei nokuti hapana mushonga weDown syndrome, kuita zvinhu pakutanga uye kurapwa kunotsigira kunogona kubatsira vanhu kusvika pakukwana kwavo. Kurapa kunotarisa pakugadzirisa zvinodiwa nehutano uye kutsigira kusimukira.

Mabasa ekutanga anosanganisira:

• Physical therapy kuvandudza muscle tone uye hunyanzvi hwemota
• Speech therapy kutsigira kusimukira kwekutaura
• Occupational therapy yehunhu hwezuva nezuva
• Special education programs dzakagadzirirwa zvinodiwa nedzidzo
• Kutarisira kwemishonga kwezvirwere zvine chekuita

Aya mabasa anoshanda zvakanaka kana atanga pakutanga sezvinobvira, zviri nani muucheche. Minda yakawanda inopa zvirongwa zvakakwana zvekuita zvinhu pakutanga zvakagadzirirwa vana vane Down syndrome.

Kurapwa kwemishonga kunogadzirisa matambudziko ehutano sezvaanoitika. Izvi zvinogona kusanganisira kuvhiya kwemwoyo kwezvikanganiso zvemoyo, zvishandiso zvekunzwa kwekunzwa, kana mishonga ye thyroid yezvirwere zve thyroid.

Muupenyu hwese, vanhu vane Down syndrome vanobatsirwa nekutsigirwa kuri kuenderera mberi mune dzidzo, basa, uye hunyanzvi hwekurarama hwakazvimiririra. Vakuru vakawanda vane Down syndrome vanoshanda, vanorarama vakazvimiririra kana semi-independently, uye vanoramba vaine hukama hunoremekedzwa.

Maitiro ekutarisira kumba panguva yeDown Syndrome?

Kutarisira mwana ane Down syndrome kumba kunosanganisira kugadzira nharaunda inotsigira, inokurudzira iyo inokurudzira kusimukira nepo ichisangana nezvinodiwa zvavo zvakasiyana. Rudo rwako nekugara kwako kunoita musiyano mukuru.

Tarisa pakugadzira maitiro anobatsira mwana wako kunzwa akachengeteka uye ane chivimbo. Vana vane Down syndrome vanowanzofambira mberi nemaitiro anofanotaurwa uye zvinotarisirwa zvakajeka.

Kurudzira kuzvimiririra nekupatsanura mabasa kuva matanho madiki, anogona kutarisirwa. Peka kukunda duku uye uve nemoyo murefu nekuverenga, sezvo kusimukira kungaita zvishoma nezvishoma asi kuri kufambira mberi kwakakosha.

Rambai makabatana nebato rehutano hwako nevatariri vekurapa. Kutaurirana nguva dzose kunobatsira kuve nechokwadi chekuti mwana wako ari kugamuchira kutarisirwa kwakakwana munzvimbo dzese.

Usakanganwa kutarisira iwe nemhuri yakowo. Kutarisira mwana ane zvinodiwa zvakasarudzika kunogona kuoma, uye kutsvaga rubatsiro kubva kumhuri dzimwe, mapoka ekutsigira, kana mabasa ekutarisira kunobatsira uye kwakajairwa.

Rini unofanira kuona chiremba weDown Syndrome?

Kana uchifunga kuti mwana wako angave ane Down syndrome, zvakakosha kutaura nezvekunetseka kwako nepediatrician yako nekukurumidza sezvinobvira. Kuongororwa pakutanga kunotungamira kumigumisiro iri nani kuburikidza nemabasa ekutanga.

Tsvaga rubatsiro rwekurapa nekukurumidza kana mwana wako ane Down syndrome akaratidza zviratidzo zvematambudziko akakomba senge kuoma kufema, kuneta kwakanyanya, kana kuchinja mumaitiro izvo zvingaratidza matambudziko emwoyo.

Kuongororwa nguva dzose kwakakosha pakutarisa kukura, kusimukira, uye kuongorora zvirwere zvine chekuita. Chiremba wako achakurudzira purogiramu yakakosha zvichienderana nezvinodiwa nemwana wako.

Taura nachiremba wako kana ukaona zviratidzo zvitsva, kudzoka kwekusimukira, kana kana mwana wako achionekwa achinetseka kupfuura zvakajairwa nemabasa ezuva nezuva.

Ungagadzirira sei kuenda kuchipatara?

Kuagadzirira kuenda kuchipatara kunobatsira kuve nechokwadi chekuti unowana zvakanyanya kubva panguva yako nevatariri vehutano. Uya nehunyanzvi hwemishonga iripo, zviratidzo zvitsva, uye mibvunzo ipi neipi yaunoda kutaura nezvayo.

Chengeta rekodhi yezviitiko zvekukura kwemwana wako, kunyangwe zvikaitika gare gare kupfuura zvakajairwa. Iyi ruzivo inobatsira vanachiremba kutevera kufambira mberi uye kugadzirisa mapurogiramu ekurapa.

Usanetseka kubvunza mibvunzo nezve chimwe chinhu chisinganzwisisiki. Kumbira ruzivo rwakanyorwa kana zvinhu zvinogona kukubatsira kutsigira mwana wako kumba.

Funga kuuya nemumwe wemhuri kana shamwari yekutsigira, kunyanya panguva yekuenda kuchipatara kwakakosha kana kutaura nezve sarudzo dzekurapa.

Down Syndrome inogona kudzivirirwa sei?

Down syndrome haigone kudzivirirwa nekuti inokonzerwa ne genetic event panguva yekugadzira masero. Zvisinei, kunzwisisa zvinokonzera ngozi kunogona kukubatsira kuita sarudzo dzakakodzera pamusoro pekurima mhuri uye kutarisirwa kwepakutanga.

Genetic counseling usati wabata pamuviri inogona kukubatsira kunzwisisa zvinokonzera ngozi dzako uye kukurukura nezve sarudzo dzekuongorora dziripo. Izvi zvinobatsira zvikuru kana uine nhoroondo yemhuri yemamiriro ezvinhu e chromosome.

Kana uri kuronga pamuviri, kuchengeta hutano hwakanaka kuburikidza nezvokudya zvakanaka, mavhitamini ekutanga, uye kutarisirwa kwemishonga nguva dzose kunotsigira mugumisiro wakanaka wekuzvitakura.

Yeuka kuti vana vazhinji vane Down syndrome vanoberekwa kunaamai vasina zvinokonzera ngozi zvinozivikanwa, uye kuva nezvinokonzera ngozi hazvivimbiswi kuti mwana wako achava nemamiriro acho.

Chii chinonyanya kukosha nezve Down Syndrome?

Down syndrome chirwere chemagene chinoita kuti kusimukira nedzidzo zvikanganiswe, asi hazvidziviriri vanhu kurarama hupenyu hunoremekedzwa, hunogutsa. Nerubatsiro rwakakodzera, kutarisirwa kwemishonga, uye mikana yedzidzo, vanhu vane Down syndrome vanogona kuita zvinhu zvinoshamisa.

Kuita zvinhu pakutanga uye kutsigirwa kuri kuenderera mberi kunoita musiyano mukuru mumigumisiro. Mabasa anotanga pakutanga, mukana mukuru mwana wako ane wekusimukira kukwana kwake.

Munhu wese ane Down syndrome akasiyana, ane simba rake, matambudziko, uye hunhu. Tarisa pakufambira mberi kwemwana wako panzvimbo yekumutsanangura nevamwe.

Yeuka kuti hausi wega mune rwendo urwu. Kune zvinhu zvakawanda, mapoka ekutsigira, uye nyanzvi dzakagadzirira kukubatsira iwe nemhuri yako kuti mufambire mberi pamwe chete.

Mibvunzo Inonyanya Kubvunzwa Nezve Down Syndrome

Q1: Chii chinonzi life expectancy yevanhu vane Down syndrome?

Life expectancy yevanhu vane Down syndrome yakavandudzika zvikuru mumakore mashoma apfuura. Nhasi, vanhu vakawanda vane Down syndrome vanorarama kusvika kuma60s avo uye kupfuura, vamwe vachisvika kuma70s kana 80s avo. Kuvandudzwa uku kunonyanya kuitika nekuda kwekutarisirwa kwakanaka kwemishonga, kuita zvinhu pakutanga, uye kurapwa kwezvirwere zvine chekuita senge matambudziko emwoyo. Life expectancy yemunhu mumwe nomumwe inotsamira pahutano hwese, kuvapo kwezvinetso, uye mukana wekutarisirwa kwemishonga kwakakwana muhupenyu hwese.

Q2: Vanhu vane Down syndrome vanogona kuva nevana here?

Hungu, vamwe vanhu vane Down syndrome vanogona kuva nevana, kunyange zvazvo huwandu hwekuzvara hudiki pane muvanhu vakawanda. Vakadzi vane Down syndrome vanogona kubata pamuviri uye kuva nevana, kunyange zvazvo vangave vakatarisana nenjodzi yakawanda panguva yekuzvitakura uye vana vavo vane mukana we50% wekuva neDown syndrome. Varume vane Down syndrome kazhinji havazvari nekuti vanogadzira sperm shoma. Munhu wese ane Down syndrome anofunga nezvekuva nevana anofanira kushanda nevatariri vehutano kuti anzwisise njodzi uye awane rutsigiro rwakakodzera.

Q3: Ndeapi mazinga ekusvika kuzvimiririra vanhu vane Down syndrome vanogona kuita?

mazinga ekusvika kuzvimiririra anochinja zvikuru pakati pevanhu vane Down syndrome, asi vazhinji vanogona kusvika pakuzvimiririra kukuru nerubatsiro rwakakodzera. Vamwe vanhu vanorarama vakazvimiririra, vane mabasa, vanotarisira mari yavo, uye vanoramba vaine hukama. Vamwe vangada rubatsiro rwakawanda nemabasa ezuva nezuva asi vanogona kuchipa zvakanyanya munharaunda dzavo. Zvinhu zvinokosha zvinosanganisira kuita zvinhu pakutanga, dzidzo yakanaka, rutsigiro rwemhuri, uye mano emumwe munhu. Vanhu vazhinji vane Down syndrome vanogona kudzidza hunyanzvi hwekuzvichengeta, kushanda mubasa rinotsigirwa, uye kunakidzwa nemabasa ekushambadzira.

Q4: Kune mishonga kana zvinowedzerwa zvinoita kuti Down syndrome ibatsirwe here?

Parizvino, hapana mishonga inorapira Down syndrome pachayo, asi kurapwa kwakasiyana-siyana kunogona kugadzirisa zvirwere zvine chekuita. Semuenzaniso, mishonga ye thyroid inorapira hypothyroidism, uye mishonga yemwoyo inotarisira matambudziko emoyo. Kutsvagisa kwakawanda kuri kuongorora kurapwa kunogona kuitika kwezviratidzo zvepfungwa, asi hapana kurapwa kwakaratidzwa kuripo. Chenjerera nezvinowedzerwa kana kurapwa kusina kuongororwa zvinotengeswa zveDown syndrome. Gara uchibvunza chiremba wako usati watanga mishonga mitsva kana zvinowedzerwa.

Q5: Ndingatsigira sei nhengo yemhuri kana shamwari ine Down syndrome?

Nzira yakanaka yekutsigira munhu ane Down syndrome ndeyekuvataura naye neruremekedzo uye kutarisa pane zvaanogona kuita panzvimbo pezvaasingakwanisi. Vamuke mumabasa emhuri nemisangano yeshamwari, taura zvakananga navo panzvimbo pevatariri, uye uve nemoyo murefu nekusiyana kwekutaura. Papai rubatsiro rwakakodzera kana zvichidiwa, asi usafunga kuti vanoda rubatsiro nezvinhu zvese. Dzidza nezve Down syndrome kuti unzwisise zvavanofamba nazvo, uye peka zviito zvavo sezvawaizoita kune chero munhu. Chinonyanya kukosha, ona munhu kekutanga, kwete mamiriro acho chete.