Trisomy 21: kuwunika, zizindikiro, chithandizo, zotsatira

Kodi trisomy 21 ndi chiyani?

Kubwera m'gulu la "chromosomal abnormalities", trisomy ndi nkhani ya ma chromosome, mwanjira ina chibadwa. Zowonadi, mwa munthu wopanda matenda a Down's, ma chromosome amapita awiriawiri. Pali ma chromosomes 23 mwa anthu, kapena ma chromosome 46 onse. Timalankhula za trisomy pomwe imodzi mwa awiriwa ilibe ma chromosome awiri, koma atatu.. Kusokonezeka kwa chromosomal kumeneku kumatha kuchitika panthawi yogawa chibadwa cha okondedwa awiriwo, pakupanga ma gametes (oocyte ndi umuna), ndiye panthawi ya umuna.

Ngakhale kuti trisomy imatha kukhudza ma chromosomes, yodziwika bwino ndi trisomy 21, yomwe imakhudza ma chromosomes 21.

Trisomy yodziwika kwambiri komanso yotheka, trisomy 21, yotchedwanso Matenda a Down, imawonedwa pafupifupi pa mimba 27 mwa 10. Kuchuluka kwake kumawonjezeka ndi msinkhu wa amayi. Akuti ku France kuli anthu pafupifupi 000 omwe ali ndi matenda a Down's (pafupifupi obadwa 50 pachaka ku France).

Dziwani kuti pali magawo atatu a Down's syndrome:

• trisomy 21 yaulere, yathunthu komanso yofanana, yomwe imayimira pafupifupi 95% ya milandu ya trisomy 21:

ma chromosome atatu 21 amasiyanitsidwa wina ndi mzake, zolakwikazo zimakhudza kromozomu yonse 21 ndipo zidawonedwa m'maselo onse omwe adayesedwa (osachepera omwe adawunikidwa mu labotale);

• mosaic trisomy 21:

maselo okhala ndi ma chromosome 47 (kuphatikiza ma chromosome 3 21) amakhala ndi ma cell okhala ndi ma chromosome 46, kuphatikiza ma chromosome a 2. Chigawo cha magulu awiri a maselo chimasiyana kuchokera kumutu kupita ku china, komanso kuchokera ku chiwalo chimodzi kapena china. minofu imodzi kwa imzake mwa munthu yemweyo;

• trisomy 21 ndi translocation:

karyotype (ndiko kuti, dongosolo la ma chromosome onse) limasonyeza ma chromosome atatu 21, koma osati onse ophatikizidwa pamodzi. Imodzi mwa ma chromosome atatu 21 imatha mwachitsanzo kukhala ndi ma chromosome awiri 14, kapena 12 ...

Zomwe zimayambitsa komanso zoopsa za Down's syndrome

Trisomy 21 imachokera ku kusagawa bwino kwa ma chromosome panthawi ya kugawanika kwa maselo komwe kumachitika panthawi ya umuna. Pakadali pano, sizikudziwikabe chifukwa chake izi zikuchitika. Kumbali ina, timadziwa vuto lalikulu lachiwopsezo: zaka za mayi wamtsogolo.

Mkazi wamkulu, amakhala ndi mwayi wobala mwana wa trisomy, ndi fortiori wokhala ndi trisomy 21. Kuyambira 1/1 mpaka zaka 500, mwayiwu umakwera kuchokera ku 20/1 mpaka 1, kenaka 000/30 mpaka 1 chaka, komanso kuyambira 100/40 mpaka 1 chaka.

Dziwani kuti kuwonjezera pa msinkhu wa amayi, pali zifukwa zina ziwiri zodziwika kuti zingakhale ndi chiopsezo chokhala ndi mwana wodwala Down's syndrome, zomwe ndi:

• kukhalapo kwa vuto la chromosomal lomwe limalumikizidwa ndi chromosome 21 mwa kholo limodzi (zomwe zimabweretsa trisomy mwa translocation);
• atabereka kale mwana yemwe ali ndi matenda a Down syndrome.

Kodi zizindikiro za Down's syndrome ndi ziti?

Kuphatikiza pa mawonekedwe amutu ndi nkhope (mutu waung'ono ndi wozungulira, muzu wodziwika pang'ono wa mphuno, maso otalikirana, khosi laling'ono ndi lalikulu, etc.), palinso zizindikiro zina za thupi: strabismus, manja amphumphu ndi zala zazifupi, msinkhu waufupi (kawirikawiri woposa mapazi sikisi pa munthu wamkulu), kamvekedwe ka minofu (hypotonia), ndipo nthawi zina zofooka kwambiri kapena zochepa, mtima, ocular, kugaya chakudya, mafupa.

Kupunduka kwaluntha kwamphamvu kosiyanasiyana, komwe kumakhudza kuthekera kwapang'onopang'ono, kumawonedwanso. Komabe, dziwani kuti kufunikira kwakukulu kapena kocheperako kwa kupereŵera kwa luntha sikumapatula kudziimira kwinakwake mwa anthu okhudzidwa. Chilichonse chimadaliranso chithandizo, maphunziro ndi kuwunika kwa mwana aliyense yemwe ali ndi Down's syndrome.

Kodi zotsatira ndi zovuta za Down's syndrome ndi ziti?

Zotsatira za Down's syndrome si zina koma zizindikilo zomwe zimayambitsa, kuyambira ndi kulumala kwa luntha.

Koma kupitirira zizindikiro zachikale, trisomy 21 ingayambitse matenda a ENT sphere, kukhudzidwa kwakukulu kwa matenda, chiopsezo chowonjezeka cha ugonthi chifukwa cha matenda a khutu pafupipafupi, mavuto owoneka (myopia, strabismus, ng'ala oyambirira), khunyu, kuwonongeka kwa mgwirizano (scoliosis). , kyphosis, hyperlordosis, luxable kneecaps, etc.) zolumikizidwa ndi ligament hyperlaxity, mavuto am'mimba, matenda odziyimira pawokha, kapenanso khansa yanthawi zonse (khansa yaubwana, lymphoma akakula makamaka) ...

Kuwunika: Kodi mayeso a Down's syndrome akuyenda bwanji?

Pakadali pano ku France, kuyesa kwa trisomy 21 kumaperekedwa mwadongosolo kwa amayi apakati. Amakhala pamalo oyamba a kuyezetsa magazi limodzi ndi ultrasound, yomwe imachitika pakati pa masabata 11 ndi 13 a amenorrhea, koma imakhala yotheka mpaka milungu 18 ya amenorrhea.

Kuyesa kwa zolembera za seramu (mapuloteni) m'mwazi wa amayi, kuphatikiza miyeso ya ultrasound (nuchal translucency makamaka) komanso pazaka za mayi wamtsogolo, zimalola kuwerengera chiopsezo chobereka mwana wa Down's syndrome.

Dziwani kuti ichi ndi chotheka osati chotsimikizika. Ngati chiwopsezo chili pamwamba pa 1/250, chimaonedwa kuti ndi "chapamwamba".

Ngati chiwopsezo chowerengeredwa chili pamwamba pa 1/250, mayeso owonjezera amaperekedwa: kuyezetsa kosavutirako asanabadwe, kapena amniocentesis.

Trisomy 21: chithandizo chanji?

Pakalipano, palibe mankhwala ochiritsira trisomy 21. Ndinu onyamula vuto la chromosomal la moyo.

Komabe, njira zofufuzira zikufufuzidwa, makamaka ndi cholinga, osati kuchotsa chromosome yowonjezereka, koma kuchotsa mphamvu zake. Koma ngakhale kuti chromosomeyi ndi yaying'ono kwambiri mwa izi, ili ndi majini opitilira 250. Kuchichotsa palimodzi, kapenanso kuchiletsa, kungakhale ndi zotsatirapo zoipa.

Njira ina yomwe ikukambidwa ndiyo kuloza majini enaake a chromosome 21 mopitilira muyeso, kuti achitepo kanthu. Awa ndi majini omwe amalumikizana kwambiri ndi kuphunzira, kukumbukira kapena kuzindikira kwa anthu omwe ali ndi matenda a Down's.

Trisomy 21: kasamalidwe kake

Kuti mwana yemwe ali ndi matenda a Down afikire pamlingo wina wodzilamulira akadzakula, ndipo sakumana ndi zovuta zambiri zokhudzana ndi thanzi lake, kutsata kwachipatala kumakhala kopitilira muyeso.

Chifukwa kuwonjezera pa zovuta zobadwa nazo, trisomy 21 imawonjezera chiopsezo cha matenda ena monga hypothyroidism, khunyu kapena matenda obanika kutulo. Choncho, munthu akabadwa, afunika kuyezetsa kwathunthu kwachipatala. kutenga katundu, komanso nthawi zonse pa moyo.

Pankhani ya luso lamagalimoto, chilankhulo, kulankhulana, kuthandizidwa ndi akatswiri angapo ndikofunikira kuti athandize ana omwe ali ndi matenda a Down syndrome kuti akulitse luso lawo. Potero, psychomotor Therapists, physiotherapists kapena olankhula mawu ndi akatswiri omwe mwana yemwe ali ndi matenda a Down's ayenera kumawawona pafupipafupi kuti akule bwino.

Kufalikira kudera lonse la France ndi kutsidya kwa nyanja, ma CAMSP, kapena malo oyambira azachipatala, amatha kusamalira ana omwe ali ndi matenda a Down's. Zonse zomwe zimachitidwa ndi ma CAMSP zimaperekedwa ndi Health Insurance. Ma CAMSP amathandizidwa ndi 80% ndi Primary Health Insurance Fund, ndipo 20% ndi General Council yomwe amadalira.

Musazengereze kuyimbiranso mabungwe osiyanasiyana omwe amakhalapo pafupi ndi Down's syndrome, chifukwa amatha kutumiza makolo kwa akatswiri ndi mabungwe omwe angathe kusamalira mwana wawo.

Tsiku la World Down Syndrome

Chaka chilichonse, Marichi 21 ndi Tsiku la World Down Syndrome. Tsikuli silinasankhidwe mwamwayi, chifukwa ndi 21/21, kapena 03/3 mu Chingerezi, zomwe zimagwirizana ndi kukhalapo kwa ma chromosome atatu 21.

Linakonzedwa kwa nthawi yoyamba mu 2005, Tsikuli likufuna kuti anthu onse adziwe bwino za matendawa, omwe panopa ndi omwe amachititsa kuti anthu azivutika maganizo. Lingaliro ndiloti lidziwitse za chikhalidwechi kuti anthu omwe ali ndi matendawa agwirizane bwino ndi anthu, komanso kuti apitirize kufufuza kuti asamalire bwino onse pazachipatala ndi maphunziro.

Masokisi osagwirizana kuti adziwitse anthu za Down's syndrome

Yoyambitsidwa mu 2015 ndi bungwe la "Down Syndrome International" (DSI) ndikutumizidwa ndi Trisomy 21 France, ntchito ya # socksbatlle4Ds (Socks battle for Down Syndrom) imakhala ndi kuvala masokosi osagwirizana ndi World Down Syndrome Day, March 21st. Cholinga: kulimbikitsa kusiyanasiyana ndi kusiyana, komanso kudziwitsidwa za moyo wa anthu omwe ali ndi matenda a Down syndrome ndi mabungwe omwe amagwira ntchito kuti awathandize.