Tse ka Hare
Trisomy 21 ke eng?
Ha re kena sehlopheng sa "chromosomal abnormalities", trisomy ke pale ea li-chromosome, ka mantsoe a mang liphatsa tsa lefutso. Ka 'nete, ho motho ea se nang Down's syndrome, li-chromosome li tsamaea ka bobeli. Ho na le lipara tse 23 tsa li-chromosome ho batho, kapa li-chromosome tse 46 ka kakaretso. Re bua ka trisomy ha bonyane e 'ngoe ea lipara e se na li-chromosome tse peli, empa tse tharo.. Ena chromosomal anomaly e ka etsahala nakong ea kabo ea lefa la liphatsa tsa lefutso tsa balekane ba babeli, nakong ea ho thehoa ha li-gametes (oocyte le peō ea botona), ebe nakong ea ho nona.
Le ha trisomy e ka ama li-chromosome tse peli, e tsebahalang haholo ke trisomy 21, e amang li-chromosome tsa bo21.
Trisomy e tloaelehileng haholo le e sebetsang, trisomy 21, e boetse e bitsoa Down syndrome, e hlokomeloa ka karolelano ho bakhachane ba 27 ho ba 10. Nako ea eona e eketseha ka lilemo tsa 'mè. Ho hakanngoa hore ho na le batho ba ka bang 000 ba nang le Down's syndrome Fora (ba ka bang 50 ba tsoaloang ka selemo Fora).
Hlokomela hore ho na le likarolo tse tharo tsa Down's syndrome:
- trisomy 21 ea mahala, e felletseng le e ts'oanang, e emelang hoo e ka bang 95% ea linyeoe tsa trisomy 21:
li-chromosome tse tharo tse 21 li arohane ho tse ling, phoso e ama chromosome eohle 21 'me e ile ea hlokomeloa liseleng tsohle tse hlahlobiloeng (bonyane tse hlahlobiloeng ka laboratoring);
- mosaic trisomy 21:
lisele tse nang le li-chromosome tse 47 (ho kenyeletsoa li-chromosome tse 3 21) li phela hammoho le lisele tse nang le li-chromosome tse 46, ho kenyeletsa le li-chromosome tse 2 21. Karolo ea lihlopha tse peli tsa lisele e fapana ho tloha tabeng e 'ngoe ho ea ho e' ngoe, empa hape ho tloha ho setho se seng kapa se seng. lesela le leng ho le leng ho motho a le mong;
- trisomy 21 ka translocation:
karyotype (ke hore, tlhophiso ea li-chromosome) e bontša li-chromosome tse tharo tse 21, empa ha li kopane kaofela. E 'ngoe ea li-chromosome tse tharo tse 21 mohlala e ka ba le li-chromosome tse peli 14, kapa 12 ...
Lisosa le lintlha tsa kotsi tsa Down's syndrome
Trisomy 21 e bakoa ke kabo e mpe ea li-chromosome nakong ea karohano ea lisele e etsahalang nakong ea kemolo. Nakong ena, ho ntse ho sa hlaka hantle hore na ke hobane'ng ha sena se etsahala. Ka lehlakoreng le leng, re tseba kotsi e kholo ea kotsi: lilemo tsa 'mè oa ka moso.
Ha mosali a le moholo, ho na le menyetla e mengata ea ho beleha ngoana ea nang le trisomy, le fortiori e nang le trisomy 21. Ho tloha ho 1/1 ho ea ho lilemo tse 500, monyetla ona o nyoloha ho tloha 20/1 ho ea ho lilemo tse 1, ebe 000/30 ho Lilemo tse 1, esita le ho tloha ho 100/40 ho isa ho lilemo tse 1.
Hlokomela hore ntle le lilemo tsa 'm'a, ho na le mabaka a mang a mabeli a tsebahalang a kotsi a ho ba le ngoana ea nang le Down's syndrome, e leng:
- boteng ba ho se tloaelehe ha chromosomal ho amanang le chromosome 21 ho e mong oa batsoali (e leng se fellang ka trisomy ka translocation);
- ba se ba bile le ngoana ea nang le lefu la Down.
Matšoao a Down's syndrome ke afe?
Ho phaella ho tšobotsi ea ponahalo ea hlooho le sefahleho (hlooho e nyenyane le e chitja, motso o tšoauoa hanyenyane oa nko, mahlo a arohaneng, molala o monyenyane le o pharaletseng, joalo-joalo), ho na le matšoao a mang a 'mele: strabismus, matsoho a teteaneng le menoana e mekhutšoanyane, seemo se sekhutšoanyane (ka seoelo se fetang limithara tse tšeletseng ho motho e moholo), ho fokola ha mesifa (hypotonia), ’me ka linako tse ling mefokolo e nyane haholo, pelo, mahlo, tšilo ea lijo, masapo.
Ho boetse ho hlokomeloa bokooa ba kelello ba matla a fapaneng, bo amang bokhoni ba ho ikhula. Leha ho le joalo, hlokomela hore bohlokoa bo boholo kapa bo fokolang ba khaello ea kelello ha bo qhelele ka thōko boipuso bo itseng ho batho ba amehileng. Ntho e 'ngoe le e 'ngoe e itšetlehile ka tšehetso, thuto le tlhokomelo ea ngoana e mong le e mong ea nang le Down's syndrome.
Litlamorao le mathata a lefu la Down's ke life?
Litlamorao tsa Down's syndrome ha se tse ling haese matšoao ao e a bakang, ho qala ka kholofalo ea kelello.
Empa ka nģ'ane ho matšoao a khale, trisomy 21 e ka baka mafu a ENT sphere, kutloelo-bohloko e kholo ho tšoaetso, kotsi e eketsehileng ea ho hloka kutlo ka lebaka la tšoaetso ea litsebe khafetsa, mathata a pono (myopia, strabismus, cataracts ea pele), lefu la sethoathoa, ho fokola ha manonyeletso (scoliosis). , kyphosis, hyperlordosis, luxable kneecaps, joalo-joalo) tse amanang le hyperlaxity ea ligament, mathata a tšilo ea lijo, mafu a mangata a atisang ho itšireletsa mafung, kapa hangata kankere (leukemia ea bana, lymphoma ho batho ba baholo ka ho khetheha) ...
Tlhahlobo: tlhahlobo ea Down's syndrome e ntse e tsoela pele joang?
Hajoale Fora, tlhahlobo ea tlhahlobo ea trisomy 21 e fanoa ka mokhoa o hlophisitsoeng ho bakhachane. E na le sebaka sa pele sa tlhahlobo ea mali hammoho le ultrasound, e etsahalang pakeng tsa libeke tse 11 le tse 13 tsa amenorrhea, empa e ntse e khoneha ho fihlela libeke tse 18 tsa amenorrhea.
Tlhahlobo ea matšoao a serum (liprotheine) maling a bakhachane, hammoho le litekanyo tsa ultrasound (nuchal translucency ka ho khetheha) le lilemong tsa 'mè oa ka moso, e lumella ho baloa ha kotsi ea ho beleha ngoana ea nang le Down's syndrome.
Hlokomela hore sena ke ntho e ka etsahalang eseng bonnete. Haeba kotsi e ka holimo ho 1/250, e nkoa e le "phahameng".
Haeba kotsi e baliloeng e le ka holimo ho 1/250, ho fanoa ka litlhahlobo tse eketsehileng: tlhahlobo e sa hlaseleng ea bakhachane, kapa amniocentesis.
Trisomy 21: kalafo efe?
Hona joale, ha ho na phekolo ea ho "phekola" trisomy 21. U mojari oa sena se sa tloaelehang sa chromosomal bophelong bohle.
Leha ho le joalo, ho ntse ho hlahlojoa mekhoa ea lipatlisiso, haholo-holo ka sepheo, eseng ho tlosa chromosome e feteletseng, empa ke ho hlakola tšusumetso ea eona. Empa le hoja chromosome ena e le e nyenyane ka ho fetisisa ho tsena, e na le liphatsa tsa lefutso tse fetang 250. Ho e hlakola ka ho feletseng, kapa esita le ho e khutsisa, ho ka ba le liphello tse mpe.
Mokhoa o mong o ntseng o ithutoa ke oa ho shebisisa liphatsa tsa lefutso tse itseng tsa chromosome 21 ho feta tekano, e le ho sebetsa ho tsona. Tsena ke liphatsa tsa lefutso tse amanang haufi-ufi le mathata a ho ithuta, a ho hopola kapa a ho lemoha ho batho ba nang le Down's syndrome.
Trisomy 21: tsamaiso ea eona
E le hore ngoana ea nang le Down's syndrome a fihle boemong bo itseng ba ho ikemela ha e se e le motho e moholo, 'me a se ke a ba le mathata a mangata ho latela bophelo ba hae, ho latela melao-motheo ea bongaka ho feta ho eletsoa.
Hobane ntle le mathata a ka hlahang a tsoalo, trisomy 21 e eketsa kotsi ea mafu a mang a kang hypothyroidism, lefu la sethoathoa kapa lefu la ho koaleha moea ka boroko. Ka hona ho hlokahala tlhahlobo e felletseng ea bongaka nakong ea tsoalo. ho nka setoko, empa hape khafetsa nakong ea bophelo.
Mabapi le litsebo tsa likoloi, puo, puisano, tšehetso e tsoang ho litsebi tse 'maloa e hlokahalang ho thusa bana ba nang le Down's syndrome ho ntlafatsa bokhoni ba bona ho ea holimo. Ka hona, litsebi tsa kelello, physiotherapist kapa lipuo tsa puo Ke litsebi tseo ngoana ea nang le Down's syndrome a tla tlameha ho li bona khafetsa e le hore a hatele pele.
E hasane naheng eohle ea Fora le mose ho maoatle, li-CAMSP, kapa litsi tsa pele tsa kalafo le sechaba, li khona ho hlokomela bana ba nang le Down's syndrome. Lits'ebetso tsohle tse etsoang ke li-CAMSP li koaheloa ke Inshorense ea Bophelo. Li-CAMSP li tšehelitsoe ka lichelete ke 80% ke Letlole la Motheo la Inshorense ea Bophelo bo Botle, le 20% ke Lekhotla le Akaretsang leo li itšetlehileng ka lona.
Hape ha oa lokela ho tsilatsila ho letsetsa mekhatlo e fapaneng e teng haufi le Down's syndrome, hobane e ka fetisetsa batsoali ho litsebi le mekhatlo e khonang ho hlokomela ngoana oa bona.
Letsatsi la Lefatše la Bofutsana
Selemo se seng le se seng, la 21 Hlakubele ke Letsatsi la Lefatše la Down's Syndrome. Letsatsi lena ha lea khethoa ka tšohanyetso, kaha ke 21/21, kapa 03/3 ka Senyesemane, e leng se lumellanang le boteng ba li-chromosome tse tharo 21.
E hlophisitsoe ka lekhetlo la pele ka 2005, Letsatsi lena le ikemiselitse ho tsebisa sechaba ka kakaretso hantle ka lefu lena, leo hona joale e leng sesosa se ka sehloohong sa ho holofala kelellong ho batho ba nang le bokooa ba kelello. Maikutlo ke ho hlokomelisa boemo bona bakeng sa kopanyo e ntle ea batho ba nang le lefu lena sechabeng, le ho tsoela pele ka lipatlisiso ho ba hlokomela hamolemo maemong a bongaka le a thuto.
Likausu tse sa lumellaneng ho lemosa batho ka Down's syndrome
E thehiloe ka 2015 ke mokhatlo oa "Down Syndrome International" (DSI) mme e fetisetsoa ke Trisomy 21 Fora, ts'ebetso ea # socksbatlle4Ds (Socks battle for Down Syndrom) e na le ho roala likausi tse sa lumellaneng bakeng sa Letsatsi la Lefatše la Down Syndrome, la 21 March. Sepheo: ho khothaletsa mefuta-futa le phapang, empa hape le ho tsebahatsa bophelo ba batho ba nang le Down's syndrome le mekhatlo e sebetsang ho ba tšehetsa.