ọdịnaya
Kedu ihe bụ trisomy 21?
Na-abata na udi nke "chromosomal abnormalities", trisomy bụ akụkọ nke chromosomes, na okwu ọzọ mkpụrụ ndụ ihe nketa. N'ezie, n'ime onye na-enweghị ọrịa Down, chromosomes na-aga na abụọ. Enwere chromosomes 23 n'ime mmadụ, ma ọ bụ 46 chromosomes na mkpokọta. Anyị na-ekwu maka trisomy mgbe opekata mpe otu n'ime ụzọ abụọ ahụ enweghị abụọ, mana chromosomes atọ. Nke a chromosomal anomaly nwere ike ime n'oge nkesa nke mkpụrụ ndụ ihe nketa nke abụọ mmekọ, n'oge e kere eke gametes (oocyte na sperm), mgbe ahụ n'oge Fertilization.
Ọ bụ ezie na trisomy nwere ike imetụta ụzọ abụọ nke chromosomes, nke a kacha mara amara bụ trisomy 21, nke metụtara chromosomes nke iri abụọ na otu.
Trisomy kacha nkịtị na nke nwere ike ime, trisomy 21, nke a na-akpọkwa Ọrịa Down, ka a na-ahụ na nkezi n'ime afọ ime 27 n'ime 10. Ọ na-abawanye ugboro ugboro na afọ nne. A na-eme atụmatụ na e nwere ihe dị ka 000 ndị nwere ọrịa Down na France (ihe dị ka ọmụmụ 50 kwa afọ na France).
Rịba ama na e nwere ngalaba atọ nke Down's syndrome:
- trisomy 21 n'efu, zuru oke yana otu, nke na-anọchite anya ihe dịka 95% nke ikpe trisomy 21:
chromosomes atọ 21 kewapụrụ onwe ha, anomaly na-emetụta chromosome 21 dum wee hụ na sel niile a nyochara (opekata mpe ndị nyochara na ụlọ nyocha);
- mosaic trisomy 21:
mkpụrụ ndụ nwere 47 chromosomes (gụnyere 3 chromosomes 21) na-ebikọ ọnụ na mkpụrụ ndụ nwere chromosomes 46, gụnyere 2 chromosomes 21. Ọnụ ọgụgụ nke ụdị abụọ nke sel dịgasị iche site n'otu isiokwu gaa na nke ọzọ, kamakwa site n'otu akụkụ ma ọ bụ ọzọ. otu anụ ahụ gaa na nke ọzọ na otu onye;
- trisomy 21 site na ntụgharị:
karyotype (ya bụ, nhazi nke chromosomes niile) na-egosi chromosomes atọ 21, mana ọ bụghị ha niile jikọtara ọnụ. Otu n'ime chromosomes atọ 21 nwere ike dịka ọmụmaatụ nwere chromosomes abụọ 14, ma ọ bụ 12…
Ihe kpatara na ihe ize ndụ nke Down's syndrome
Trisomy 21 na-esite na nkesa chromosomes adịghị mma n'oge nkewa sel nke na-ewere ọnọdụ n'oge njikọta spam nwoke na nwanyị. N'oge a, amabeghị kpọmkwem ihe kpatara nke a ji eme. N'aka nke ọzọ, anyị maara isi ihe ize ndụ: afọ nke nne n'ọdịnihu.
Oke nwanyị, ka o yikarịrị ka ọ ga-amụ nwa nwere trisomy, yana fortiori nwere trisomy 21. Site na 1/1 ruo afọ 500, ihe gbasara nke puru ime na-ebili site na 20/1 ruo 1 afọ, wee 000/30 ruo 1 afọ, na ọbụna site na 100/40 ruo 1 afọ.
Rịba ama na na mgbakwunye na afọ nke nne, enwere ihe abụọ ndị ọzọ amatakwara ihe ize ndụ nke ịmụ nwa nwere ọrịa Down, bụ:
- ọnụnọ nke mmebi nke chromosomal jikọtara ya na chromosome 21 n'ime otu nne na nna (nke na-ebute trisomy site na ntụgharị);
- ebe amuruola nwa nwere ọrịa Down.
Gịnị bụ ihe ịrịba ama nke Down's syndrome?
Na mgbakwunye na njirimara ọdịdị nke isi na ihu (obere na gburugburu isi, obere akara mgbọrọgwụ nke imi, anya dị iche iche, olu obere na obosara, wdg), e nwere. njirimara anụ ahụ ndị ọzọ: strabismus, aka na-adịghị mma na mkpịsị aka dị mkpụmkpụ, ogologo ogologo (na-adịkarịghị karịa ụkwụ isii n'ime okenye), ụda akwara adịghị mma (hypotonia), na mgbe ụfọdụ. ka ọ dị njọ ma ọ bụ dị njọ, obi, ocular, digestive, orthopedic.
A hụkwara nkwarụ ọgụgụ isi nke ike dị iche iche, na-emetụta ike abstraction. Rịba ama, otu ọ dị, mkpa ma ọ bụ dị nta nke ụkọ ọgụgụ isi anaghị ewepu ụfọdụ nnwere onwe na ndị ọ metụtara. Ihe niile dabere na nkwado, agụmakwụkwọ na nleba anya nke nwatakịrị ọ bụla nwere ọrịa Down.
Kedu ihe na-esi na ya pụta na nsogbu nke Down's syndrome?
Ihe si na ọrịa Down's syndrome pụta abụghị ihe ọzọ ma ọ bụghị akara ngosi ọ na-ebute, malite na nkwarụ ọgụgụ isi.
Ma n'ofe kpochapụwo mgbaàmà, trisomy 21 nwere ike ime ka ọrịa nke ENT sphere, a ukwuu uche na-efe efe, na-amụba ihe ize ndụ nke ntị chiri n'ihi ugboro ugboro ọrịa ntị, nsogbu anya (myopia, strabismus, mmalite cataracts), Akwụkwụ na-adọ, nkwonkwo deformities (scoliosis). , kyphosis, hyperlordosis, luxable kneecaps, wdg) jikọtara ya na hyperlaxity ligament, nsogbu digestive, ọrịa autoimmune na-emekarị ugboro ugboro, ma ọ bụ ọbụna ọrịa cancer na-emekarị (ọrịa leukemia nwata, lymphoma na-eto eto karịsịa) ...
Nyocha: kedu ka nyocha nke ọrịa Down si aga?
Ugbu a na France, a na-enye ndị inyom dị ime ule nyocha maka trisomy 21 n'usoro. Ọ na-eme n'ọnọdụ mbụ nke nyocha ọbara yana ultrasound, nke na-eme n'etiti izu 11 na 13 nke amenorrhea, mana ọ ga-ekwe omume ruo izu 18 nke amenorrhea.
Nyocha nke ihe nrịbama nke serum (protein) n'ime ọbara nne, tinyere nha ultrasound (nchal translucency karịsịa) na n'afọ nke nne n'ọdịnihu, na-enye ohere ịgbakọ ihe ize ndụ nke ịmụ nwa nwere ọrịa Down.
Rịba ama na nke a bụ ihe gbasara omume na ọ bụghị ihe doro anya. Ọ bụrụ na ihe ize ndụ dị n'elu 1/250, a na-ewere ya dị ka "elu".
Ọ bụrụ na ihe ize ndụ a gbakọrọ dị elu karịa 1/250, a na-enye nyocha ndị ọzọ: nyocha prenatal na-adịghị emerụ ahụ, ma ọ bụ amniocentesis.
Trisomy 21: kedu ọgwụgwọ?
Ka ọ dị ugbu a, ọ nweghị ọgwụgwọ ọ bụla iji "gwọta" trisomy 21. Ị bụ onye na-ebu ọrịa chromosomal a maka ndụ.
Agbanyeghị, a na-enyocha ụzọ nyocha, ọkachasị n'ebumnobi, ọ bụghị iwepụ chromosome karịrị akarị, kama nke ịkagbu mmetụta ya. Mana ọ bụ ezie na chromosome a bụ nke kacha nta n'ime ndị a, ọ nwere ihe karịrị mkpụrụ ndụ ihe nketa 250. Ihichapụ ya kpam kpam, ma ọ bụ ọbụna mechie ya ọnụ, nwere ike ịkpata ihe ọjọọ.
Ụzọ ọzọ a na-amụ bụ ịchụso ụfọdụ mkpụrụ ndụ ihe nketa chromosome 21 karịa, iji mee ihe na ha. Ndị a bụ mkpụrụ ndụ ihe nketa nwere njikọ chiri anya na mmụta, ebe nchekwa ma ọ bụ ihe isi ike n'ime ndị nwere ọrịa Down.
Trisomy 21: njikwa ya
Ka nwatakịrị nwere ọrịa Down ruo n'ókè ụfọdụ nke nnwere onwe n'oge ọ bụ okenye, ma ghara inwe ọtụtụ nsogbu n'ihe gbasara ahụ ike ya, nleba anya ahụike na-esote bụ karịa ndụmọdụ.
N'ihi na na mgbakwunye na mmebi nke ọmụmụ nwere ike ime, trisomy 21 na-abawanye ohere nke ọrịa ndị ọzọ dị ka hypothyroidism, epilepsy ma ọ bụ ọrịa apnea nke ụra. Ya mere, achọrọ nyocha ahụike zuru oke mgbe a mụrụ ya. iji nyochaa, mana kwa oge niile n'oge ndụ.
N'ihe gbasara nkà moto, asụsụ, nzikọrịta ozi, nkwado sitere n'aka ọtụtụ ndị ọkachamara dị mkpa iji nyere ụmụaka nwere ọrịa Down aka ịzụlite ikike ha ruo oke. N'ihi ya, psychomotor therapists, physiotherapists ma ọ bụ okwu therapists bụ ndị ọkachamara nke nwatakịrị nwere ọrịa Down ga-ahụrịrị mgbe niile ka o wee nwee ọganihu.
Gburugburu ala ala France na esenidụt, CAMSPs, ma ọ bụ ụlọ ọrụ medico-social action center, nwere ike ilekọta ụmụaka nwere ọrịa Down. Ntinye aka niile nke CAMSP mere bụ mkpuchi ahụike kpuchie. Ndị CAMSP na-enweta 80% site na Fundlọ Inshọransị Ahụike Mbụ na-akwado, yana 20% site na Kansụl General nke ha dabere na ya.
I kwesịghịkwa ịla azụ ịkpọ ndị otu dị iche iche dị na gburugburu ọrịa Down, n'ihi na ha nwere ike ịtugharị ndị nne na nna na ndị ọkachamara na ụlọ ndị nwere ike ilekọta nwa ha.
Ụbọchị Ọrịa Ọrịa Ụwa
Kwa afọ, Maachị 21 bụ Ụbọchị Ọrịa Ọrịa Ụwa. A họrọghị ụbọchị a na ndabara, ebe ọ bụ 21/21, ma ọ bụ 03/3 na Bekee, nke na-ekwupụta ọnụnọ nke chromosomes 21 atọ.
A haziri maka oge mbụ na 2005, ụbọchị a chọrọ ime ka ọha na eze mara nke ọma maka ọrịa a, bụ nke ugbu a bụ isi ihe na-akpata nkụda mmụọ n'ime ndị nwere nkwarụ ọgụgụ isi. Echiche bụ ma ịkwalite mmata nke ọnọdụ a maka njikọta nke ndị nwere ọrịa ahụ n'ime ọha mmadụ, na ịnọgide na-eme nchọpụta iji lekọta ha nke ọma na ọkwa ahụike na agụmakwụkwọ.
sọks na-adakọghị ọnụ iji mee ka mmadụ mara gbasara ọrịa Down
Amalitere na 2015 site na otu "Down Syndrome International" (DSI) na Trisomy 21 France relayed, ọrụ # socksbatlle4Ds (Socks battle for Down Syndrom) gụnyere iyi sọks na-adaghị adaba maka ụbọchị ọrịa Down Syndrome nke ụwa, Machị 21st. Ebumnuche: ịkwalite ụdị dị iche iche na ọdịiche, kamakwa ime ka a mara ndụ ndị nwere ọrịa Down na ndị otu na-arụ ọrụ iji kwado ha.