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Menene trisomy 21?
Ya shigo cikin nau'in "rauni na chromosomal", trisomy labari ne na chromosomes, a wasu kalmomi kayan halitta. Lallai, a cikin mutum ba tare da Ciwon Down ba, chromosomes suna tafiya bibiyu. Akwai nau'i-nau'i 23 na chromosomes a cikin mutane, ko kuma 46 chromosomes gaba daya. Muna magana akan trisomy lokacin da aƙalla ɗaya daga cikin nau'ikan ba shi da biyu, amma chromosomes uku. Wannan chromosomal anomaly zai iya faruwa a lokacin rarraba gadon gado na abokan tarayya biyu, yayin ƙirƙirar gametes (oocyte da sperm), sannan lokacin hadi.
Yayin da trisomy zai iya rinjayar kowane nau'i na chromosomes, mafi sanannun shine trisomy 21, wanda ya shafi nau'i na 21st na chromosomes.
Mafi na kowa kuma mai yiwuwa trisomy, trisomy 21, wanda kuma ake kira Ciwon mara, Ana lura da matsakaita a cikin masu ciki 27 daga cikin 10. Mitar sa yana ƙaruwa da shekarun mahaifiyar. An kiyasta cewa akwai kusan mutane 000 masu fama da cutar Down a Faransa (kusan haihuwa 50 a kowace shekara a Faransa).
Lura cewa akwai ƙananan rukunai guda uku na Down's syndrome:
- kyauta, cikakke kuma mai kama da trisomy 21, wanda ke wakiltar kusan kashi 95% na lokuta na trisomy 21:
chromosomes guda uku 21 sun rabu da juna, anomaly ya shafi dukkanin chromosome 21 kuma an lura dashi a cikin dukkanin kwayoyin da aka bincika (akalla waɗanda aka bincika a cikin dakin gwaje-gwaje);
- mosaic trisomy 21:
Kwayoyin da ke da chromosomes 47 (ciki har da 3 chromosomes 21) suna rayuwa tare da sel masu chromosomes 46, ciki har da 2 chromosomes 21. Matsakaicin nau'i na nau'i biyu na sel ya bambanta daga wannan batu zuwa wani, amma kuma daga wata gabo ko wata. nama ɗaya zuwa wani a cikin mutum ɗaya;
- trisomy 21 ta hanyar fassara:
Karyotype (wato tsarin duk chromosomes) yana nuna chromosomes guda uku 21, amma ba duka aka haɗa su tare ba. Daya daga cikin ukun chromosomes 21 na iya zama misali tare da chromosomes guda biyu 14, ko 12…
Dalilai da abubuwan haɗari na Down's syndrome
Trisomy 21 yana haifar da mummunan rarrabawar chromosomes yayin rarrabawar tantanin halitta wanda ke faruwa a lokacin hadi. A wannan lokacin, har yanzu ba a san takamaiman dalilin da ya sa hakan ke faruwa ba. A gefe guda, mun san babban haɗari mai haɗari: shekarun mahaifiyar gaba.
Yawan girma mace, zai fi yiwuwa ta haifi ɗa mai trisomy, kuma mai fortiori mai trisomy 21. Daga 1/1 zuwa 500 shekaru, yiwuwar hakan yana tasowa daga 20/1 zuwa 1 shekara, sannan 000/30 zuwa 1/100. 40 shekaru, har ma daga 1/XNUMX zuwa XNUMX shekaru.
Lura cewa ban da shekarun haihuwa, akwai wasu abubuwan haɗari guda biyu da aka sani na samun ɗa mai ciwon Down, wato:
- kasancewar rashin daidaituwa na chromosomal da ke da alaƙa da chromosome 21 a cikin ɗayan iyaye (wanda ke haifar da trisomy ta hanyar canzawa);
- kasancewar ta riga ta haifi ɗa mai ciwon Down.
Menene alamun Ciwon Down?
Baya ga siffar siffa ta kai da fuska (kanana da zagaye kai, saiwar hanci mai dan kadan, ware idanu, wuyansa karami da fadi da sauransu), akwai kuma. sauran alamomin dabi'a na zahiri: strabismus, hannun jari da gajerun yatsu, gajeriyar tsayi (da wuya fiye da ƙafa shida a cikin balagagge), ƙarancin sautin tsoka (hypotonia), da kuma wani lokacin fiye ko žasa munanan rashin lafiya, zuciya, ido, narkewar abinci, orthopedic.
Hakanan ana lura da nakasa ta hankali na sãɓãwar launukansa mai ƙarfi, da ke shafar iyawar abstraction. Lura, duk da haka, mafi girma ko žasa mahimmancin gibin hankali baya keɓance wani yancin kai a cikin mutanen da abin ya shafa. Komai kuma ya dogara da tallafi, ilimi da sa ido ga kowane yaro mai ciwon Down's syndrome.
Menene sakamakon da rikitarwa na Down's syndrome?
Sakamakon ciwon Down ba wani ba ne illa alamun da yake haifarwa, farawa da nakasar hankali.
Amma bayan bayyanar cututtuka na al'ada, trisomy 21 na iya haifar da cututtuka na ENT Sphere, mafi girma da hankali ga cututtuka, ƙara yawan haɗarin kurma saboda ciwon kunne akai-akai, matsalolin gani (myopia, strabismus, farkon cataracts), farfadiya, nakasar haɗin gwiwa (scoliosis). , kyphosis, hyperlordosis, luxable kneecaps, da dai sauransu) an danganta su da hyperlaxity na ligament, matsalolin narkewa, cututtuka na autoimmune akai-akai, ko ma fiye da ciwon daji (cutar cutar sankarar yara, lymphoma a cikin girma musamman) ...
Nunawa: yaya gwajin ciwon Down ke tafiya?
A halin yanzu a Faransa, ana ba da gwajin gwajin trisomy 21 ga mata masu juna biyu bisa tsari. Ya ƙunshi a farkon wuri na gwajin jini tare da duban dan tayi, wanda ke faruwa tsakanin makonni 11 zuwa 13 na amenorrhea, amma yana yiwuwa har zuwa makonni 18 na amenorrhea.
Ƙididdigar ma'auni na jini (proteins) a cikin jinin mahaifa, tare da ma'auni na duban dan tayi (musamman nuchal translucency) da kuma shekarun mahaifiyar da za ta kasance a nan gaba, yana ba da damar lissafin haɗarin haihuwa da ciwon Down's syndrome.
Lura cewa wannan abu ne mai yuwuwa ba tabbas ba. Idan hadarin ya kasance sama da 1/250, an dauke shi "high".
Idan haɗarin da aka ƙididdige ya wuce 1/250, ana ba da ƙarin gwaje-gwaje: gwaje-gwajen da ba za a iya kamuwa da su ba, ko amniocentesis.
Trisomy 21: wane magani?
A halin yanzu, babu magani don "warkar da" trisomy 21. Kai ne mai ɗaukar wannan rashin lafiyar chromosomal na rayuwa.
Koyaya, ana bincika hanyoyin bincike, musamman tare da manufar, ba kawar da chromosome da suka wuce gona da iri ba, amma na soke tasirinsa. Amma ko da yake wannan chromosome shine mafi ƙanƙanta daga cikin waɗannan, yana ɗauke da kwayoyin halitta sama da 250. Share shi gaba ɗaya, ko ma yin shiru, na iya haifar da mummunan sakamako.
Wata hanyar da ke kan binciken ta ƙunshi niyya ga wasu takamaiman kwayoyin halitta na chromosome 21 fiye da haka, don yin aiki da su. Waɗannan kwayoyin halitta ne waɗanda ke da kusanci da ilmantarwa, ƙwaƙwalwa ko matsalolin fahimta a cikin mutanen da ke fama da ciwon Down.
Trisomy 21: Gudanarwa
Ta yadda yaron da ke fama da ciwon Down ya kai wani matakin cin gashin kansa a lokacin da yake balaga, kuma ba zai fuskanci matsaloli da yawa ta fuskar lafiyarsa ba, sakamakon binciken likita ya fi nasiha.
Domin baya ga yuwuwar rashin lafiyar haihuwa, trisomy 21 yana ƙara haɗarin wasu cututtukan cututtuka irin su hypothyroidism, farfaɗo ko ciwon bacci. Don haka ana buƙatar cikakken duba lafiyar likita lokacin haihuwa. don yin lissafi, amma kuma akai-akai a tsawon rayuwar rayuwa.
Dangane da ƙwarewar motsa jiki, harshe, sadarwa, tallafi daga ƙwararrun ƙwararru da yawa ya zama dole don taimakawa yara masu fama da ciwon Down don haɓaka ƙarfinsu zuwa matsakaicin. Ta haka, psychomotor therapists, physiotherapists ko magana therapists ƙwararrun ƙwararru ne waɗanda yaron da ke fama da ciwon Down zai rika gani akai-akai don samun ci gaba.
Yaduwa ko'ina cikin babban yankin Faransa da ketare, CAMSPs, ko cibiyoyin aikin jinya da zamantakewa na farko, suna iya kulawa da yara masu fama da ciwon Down. Dukkan ayyukan da CAMSPs suka yi suna cikin Inshorar Lafiya. CAMSPs ana samun kashi 80% daga Asusun Inshorar Lafiya na Farko, da 20% na Babban Majalisar da suka dogara da shi.
Hakanan bai kamata ku yi jinkirin yin kira ga ƙungiyoyi daban-daban waɗanda ke tattare da cutar ta Down ba, saboda suna iya tura iyaye zuwa ƙwararru da tsarin da za su iya kula da ɗansu.
Ranar Ciwon Ciwon Kasa ta Duniya
Kowace shekara, 21 ga Maris ita ce Ranar Ciwon Ciwon Jiki ta Duniya. Ba a zaɓi wannan kwanan wata kwatsam ba, tunda ta kasance 21/21, ko 03/3 a cikin Ingilishi, wanda ke nuna kasancewar chromosomes guda uku 21.
Wannan rana wadda aka shirya a karon farko a shekara ta 2005, na da nufin fadakar da jama'a game da wannan cuta, wanda a halin yanzu shi ne babban abin da ke haifar da tawayar hankali ga masu nakasa. Manufar duka ita ce wayar da kan jama'a game da wannan yanayin don ingantacciyar hanyar shigar da masu fama da cutar cikin al'umma, da kuma ci gaba da bincike don kula da su a matakin likita da ilimi.
Rashin daidaiton safa don wayar da kan jama'a game da ciwon Down
An ƙaddamar da shi a cikin 2015 ta ƙungiyar "Down Syndrome International" (DSI) kuma Trisomy 21 Faransa ce ta relayed, aikin # socksbatlle4Ds (Socks Battle for Down Syndrom) ya ƙunshi sanya safa da ba su dace ba don Ranar Ciwon Cutar Down ta Duniya, ranar 21 ga Maris. Manufar: don haɓaka bambance-bambance da bambanci, amma kuma don bayyana rayuwar mutanen da ke fama da Down syndrome da ƙungiyoyin da ke aiki don tallafa musu.