Kodi zimayambitsa Down Syndrome ndi ziti? Kodi pali mitundu yosiyana? Kodi pali chochita kuti muchepetse chiopsezo chomwe mudzakhala nacho ndi Down Syndrome? Kodi mungaganizire za chiopsezo chanu pogwiritsa ntchito msinkhu wanu? Awa ndi ochepa chabe a mafunso omwe makolo amakhala nawo ndipo ena amafunsa.
Kodi Matenda Aakulu N'chiyani?
Matenda a pansi amatanthauza makhalidwe ena omwe amapezeka kwa ana ndi akulu omwe ali ndi nambala 21 ya chromosomes.
Monga anthu, tili ndi ma chromosomes 46 kapena awiri awiri a chromosomes. Mipando 22 imatengedwa ngati autosomes, ndipo ena awiri ndi ma chromosomes a kugonana-mwina XY kwa mnyamata ndi XX kwa mtsikana.
Matenda a syndrome-trisomy 21-amapezeka pamene pali 3 osati ma chromosomes a nambala 21 (motero, trisomy 21).
Kumvetsa Genetics
Mtundu wochuluka wa Down syndrome-wathunthu trisomy 21-umapezeka chifukwa cha ndondomeko yotchedwa nondjunjunction. Selo likamagawanika, imodzi mwa ma chromosome amapita ku selo iliyonse ya mwana wamkazi. Ndi nondisjunction, ma chromosomes awiri a awiri sakugawanitsa bwino zomwe zimapangitsa makope awiri a chromosome kupita ku selo limodzi ndipo palibe kopikira ku selo lina. Selo yomwe imalandira makope awiri a chromosome ya 21 ndi yomwe imayambitsa matenda a Down.
Nthaŵi zambiri zowonongeka (makope atatu a chromosomes) sizigwirizana ndi moyo. Kwa akuluakulu, trisomy 21 imayambitsa Down syndrome.
Palinso zovuta zina . Ana omwe ali ndi matenda a trisomy 18 , Edwards, mwina nthawi zina amapulumuka ana. Matenda a Klinefelter (47 XXY) amapezeka mwa ana asanu (500).
Mitundu
Kuti mumvetse bwino chibadwa cha matenda a Down syndrome ndikofunika kuti poyamba mufotokoze mitundu yosiyanasiyana.
Trisomy Complete 21 - Trisomy Complete 21 imachitika monga momwe tafotokozera pamwambapa, kudzera mu ndondomeko yotchedwa nondjunjunction.
Kusamutsidwa kwa matenda otchedwa Translocation Down (Translocation Down) kapena Translocation Trisomy 21 -Kusintha kwa matenda a Down syndrome kawirikawiri kumayamba musanayambe kubadwa kwa kholo la mwana yemwe ali ndi matenda oterewa.
Mu translocation, mbali imodzi ya chromosome imatha ndipo imagwirizanitsa ndi chromosome ina pa nthawi ya meiosis-njira yopatulira maselo yomwe imachitika popanga mazira ndi umuna. Izi zimapangitsa makope atatu a chromosome 21, koma kophatikizidwa limodzi ndi chromosome ina, nthawi zambiri chromosome 14. Mwa kuyankhula kwina, mwana (kholo) amathera ndi ma chromosome 45, koma amakhala ndi kugwira ntchito moyenera chifukwa onse Zachibadwa zomwe zimafunikira pa chromosome ya 21 imakali pano. Makolo awa omwe ali ndi "malire" osamukira alibe zovuta za Down syndrome.
Pamene makolo awa ali ndi ana, komabe ana amakhala ndi makope atatu a chromosome 21, koma mosiyana ndi nondisjunction trisomy, chromosome yowonjezera imakhudzidwa ndi chromosome ina. Dziwani zambiri za kusintha .
Mosaic Down Syndrome - Mayi Mosaic Down ndi njira yozolowereka ya Down syndrome ndipo imapezeka chifukwa cha kusintha kwa majini komwe kumachitika pambuyo feteleza. Ana omwe ali ndi matenda otchedwa Down syndrome, osati maselo onse ali ndi makope atatu a chromosome 21.
Zizindikiro zomwe mwana ali nazo zimadalira peresenti ya maselo m'thupi omwe ali ndi chromosome yowonjezera.
Momwe Trisomy 21 Ikuchitikira
Monga taonera pamwambapa, trisomy 21 ikhoza kuchitika kudzera mu njira yothandizira kapena kusamutsidwa panthawi yopatukana. Palibe amene amadziwa chifukwa chake "ngozi" izi zimagawidwa, ndipo makamaka, poona kuchuluka kwa maselo omwe amapangidwa kuchokera ku mapangidwe a gametes (umuna ndi mazira) kwa mwana watsopano, n'zodabwitsa kuti zichitike mobwerezabwereza.
Pogwirizana, pafupifupi 90 peresenti ya ana, chromosome yowonjezera imachokera kwa mayi (dzira).
Pafupifupi 4 peresenti ya nthawi yomwe imachokera kwa abambo (umuna) ndi nthawi yonse yomwe imapezeka pambuyo pa umuna.
Zowopsa
Zomwe zimadziwika kuti ndizoopsa za Down syndrome panthawiyi zikuphatikizapo:
- Kuchuluka kwa msinkhu wa amayi
- Kukhala ndi mwana wapitawo ali ndi Down syndrome
- Kukhala ndi mbiri ya banja la Down syndrome
Ndikofunika kuzindikira kuti zifukwa ziwiri zomwe zimayambitsa ngozi ndizoopsa zokhazokha chifukwa cha translocation trisomy 21, ndipo ndizimene zimayambitsa matenda osachepera 5% a matenda a Down syndrome.
Ndikofunika kudziwa kuti palibe chilengedwe chilichonse (monga poizoni, khansa, etc.) kapena zikhalidwe zomwe zimagwirizana ndi chitukuko cha Down syndrome. Zina kusiyana ndi kukula kwa msinkhu wa amayi, zikuwoneka kuti zikuchitika mwadzidzidzi.
Mayi Amayi
Chiwerengero cha Down syndrome chikuwonjezeka bwino ndi zaka za amayi, ngakhale n'kofunika kudziwa kuti pafupifupi 80% ya ana omwe ali ndi Down syndrome amabadwira kwa amayi omwe ali aang'ono kusiyana ndi zaka 35.
Kuopsa kwa matenda a Down syndrome ndi zaka:
- Zaka 25 - 1 mu 1,200
- Zaka 30 - 1 mu 900
- Zaka 35 - 1 mu 350
- Zaka 40 - 1 mwa 100
- Zaka 45 - 1 mwa 30
- Zaka 49 - 1 pa 10
Kuopsa Kwambiri Ndi Kubadwa Kwambiri
Ngati makolo ali ndi mwana yemwe ali ndi matenda a Down syndrome, pangozi yokhala ndi mwana wina ali ndi Down syndrome ndi 1 mwa 100. Komatu malinga ndi mtundu wa Down syndrome, vutoli likhoza kukhala lalitali kapena lochepa.
Pamene mwana wasintha matenda a Down syndrome, uphungu wokhudzana ndi majeremusi ungathandize kudziwa ngati amayi, abambo, kapena ena ali ndi zonyamulira, choncho chiopsezo m'tsogolo.
Kodi Ndicho Cholowa?
Mtundu umodzi wokha wa matenda otchedwa Down syndrome-translocation Down syndrome-umatengedwa kukhala wolowa. Popeza mtundu uwu wa matenda otchedwa Down syndrome umawerengera pafupifupi 4 peresenti ya matenda a Down syndrome, ndiyeno, 1/3 peresenti ya ana awa amaganiza kuti adzalandira translocation, koma pafupi 1 peresenti ya Down syndrome panopa ndi "cholowa."
Kwa makolo a mwana yemwe ali ndi matenda a Down syndrome chifukwa cha translocation, pakhoza kukhala chonchi chowonjezeka cha Down syndrome m'tsogolo mimba. Izi zili choncho chifukwa mmodzi wa makolo awiri akhoza kukhala wodalirika wonyamulira wa translocation. Nthawi zina palibe kholo la mwana yemwe ali ndi trisomy 21 yokhala ndi chithandizo choyenerera, ndipo pazifukwa zoterezi sizowonjezera chiopsezo cha matenda otchedwa Down syndrome m'tsogolo mimba. Ponena za uphungu wamakono, nkofunikanso kuti makolo a mwana yemwe ali ndi matendawa adziwitse kuti ana awo ena angakhale ogwira ntchito yoyendetsa bwino translocation, ndipo iwowo akhoza kukhala pachiopsezo chokhala ndi mwana wodwala matenda a Down syndrome m'tsogolomu.
Kuyezetsa msanga
Amayi ambiri omwe amamva kuti ali ndi pakati ali ndi zaka 35 kapena kupitilira akudwala matenda a Down syndrome. Ili ndi lingaliro laumwini payekha ndipo liri chabe chitsogozo. Mabanja angasankhe kuti ayesedwe poyesera ali wamng'ono kapena kuyesedwa kwapakale akalemba.
Uphungu Wachibadwa
Malingana ndi mayesero omwe akugwiritsidwa ntchito, komanso mbiri yaumwini ndi ya banja ya matenda, maanja ena amasankha kupitiliza uphungu. Izi ndi zopindulitsa m'njira zingapo
- M'badwo wa amayi wokha sudzadziwiratu pafupifupi 80 peresenti ya kubadwa kwa ana omwe ali ndi Down syndrome, kumbali imodzi, ndipo pangakhale mavuto ena omwe ali ndi pakati pa amayi opitirira zaka 35.
- Palinso mavuto ena a chibadwa, monga chromosome yowonongeka yomwe ingapezeke pa zina, koma osati zina, mayesero omwe amagwiritsidwa ntchito ku matenda a Down.
- Matenda ena amtunduwu amayendetsedwa m'mabanja omwe sitimayesa.
Funso lina lofunika kufunsa musanayesedwe ndi chifukwa chake mungafune kudziwa ngati mwana wanu ali ndi matenda a Down syndrome. Kodi mungachite chilichonse mosiyana? Kodi mukuganiza kuti zingakuthandizeni kukonza zamtsogolo? Wothandizira mazenera angakuthandizeni kufunsa mafunso awa ndikupanga zosankha zomwe zingakhale zabwino kwa inu pankhani yakuyezetsa.
Zosankha Zoyesera
Pali njira zingapo zoyesera za Down syndrome, zomwe zimagwiritsidwa ntchito pa nthawi yosiyana ya mimba, komanso kukhala ndi mphamvu zosiyana, zenizeni, ndi zonyenga (mawu achipatala omwe amatanthauza kuti angathe kutenga chinachake popanda makolo oopsa popanda chifukwa .) Ziyeso zina zomwe zilipo zikuphatikizapo:
- Kuyeza kwa Serum alpha-fetoprotein - Phunzirani za zotsutsana za alpha-fetoprotein, triple, quad, kapena penta screening.
- Kuyeza kwa ultrasound - Nuchal kuyesa kupaleshoni kwa matenda otsika kumachitika pakati pa masabata 11 ndi 14.
- Amniocentesis - Amniocentesis a Down syndrome nthawi zambiri amatha pakati pa masabata 15 ndi 20.
- Chorionic villus sampling - Chitsanzo cha Chornionic villus chimagwiritsidwa ntchito pakati pa masabata 10 ndi 12.
Pansi
Ngati ndinu kholo mukuganiza za kuyesa matenda a Down syndrome, izi zingakhale nthawi yovuta kwambiri. Palibe chinthu chofunika kwambiri kwa ife kuposa thanzi ndi chimwemwe cha ana athu komanso ana athu amtsogolo. Poganizira izi, lingalirani lingaliro limodzi musanapite.
Ngati muli ndi mwana ndi Down syndrome, kodi mwanayo angakhale wosangalala? Ndithudi, makamaka ndi mavuto ena azachipatala , kukhala ndi mwana ndi Down syndrome kungakhale kovuta kwa makolo. Zimenezo sitingachite kunena. Koma kodi ukutha kuona kusekerera? Ndi kangati mumawona ana (ndi achikulire) ali ndi Down syndrome akumwetulira? Ambiri a inu mumati "nthawi zambiri." Tsopano ganizirani za ana ndi akuluakulu a nzeru zakuya omwe amagwira ntchito kwambiri. Kodi mukuwona kusekerera kwambiri?
Ndemanga iyi sikutanthauza kuchepetsa mantha alionse. Mantha amenewo ndi enieni ndipo ndi ofunika kutulukira poyera. Komabe monga makolo, nthawi zambiri timanena kuti chiyembekezo chathu chachikulu ndi chakuti ana athu adzakhala ndi "chimwemwe" komanso kuti chimwemwe sichidalira nthawi zonse kukhala ndi IQ, kapena kuyang'ana ngati wina aliyense. Ndipotu, ana ambiri ndi achikulire omwe ali ndi matenda a Down syndrome amaoneka kuti amatha kumwetulira nthawi zina omwe alibe matendawa, monga kuvumbula zinthu zomwe sitingasinthe m'mbuyomo kapena kudera nkhawa kapena kuziopa zam'tsogolo.
Kuonjezerapo, ngakhale kuti matendawa akugwirizanitsidwa ndi Down syndrome, pafupifupi 80% mwa ana obadwa ndi Down syndrome lero akuyembekezeka kufika pa zaka 60.
Ngati mukuganiza zowunika, kapena mwaphunzira kuti mutha kukhala ndi mwana ndi matenda a Down syndrome, tengani kamphindi kuti muwerenge kalata kwa kholo latsopano ndi mwana yemwe ali ndi matenda a Down syndrome.
Zotsatira:
National Institute of Child and Human Development. Nchiyani chimayambitsa Down syndrome? Kusinthidwa 01/17/14.