Down syndrome

ʻO Down Syndrome kahi kūlana genetika kahi i loaʻa ai i kahi kanaka he 47 chromosome ma kahi o 46 maʻamau.

I ka hapanui o nā hihia, kū ʻo Down Syndrome ke loaʻa kahi kope keu o ka chromosome 21. Kapa ʻia kēia ʻano Down Down trisomy 21. ʻO ke keu chromosome ke kumu o nā pilikia me ke ʻano o ke kino a me ka lolo e ulu ai.

ʻO Down Syndrome kekahi o nā kumu maʻamau o nā hānau hānau.

Hoʻololi nā ʻōuli Down Syndrome mai kekahi kanaka i kekahi kanaka a hiki ke pae mai ke akahai a i ʻole koʻikoʻi. He mea ʻole ke ʻano o ka maʻi, ʻike nui ʻia ka poʻe me Down Syndrome.

ʻOi aku ka liʻiliʻi o ke poʻo ma mua o ka maʻamau a me ke ʻano maʻamau. ʻO kahi laʻana, poepoe paha ke poʻo me kahi pālahalaha ma ka hope. E poepoe ʻia ke kihi o loko o nā maka ma kahi o ke kiko.

ʻO nā hōʻailona kino maʻamau ka:

• Hoʻoemi i ke kani o ka mākala i ka wā hānau
• ʻOi aku ka ʻili ma ka piko o ka ʻāʻī
• Ihu pālahalaha
• Hoʻokaʻawale ʻia nā ami ma waena o nā iwi o ka iwi poʻo (sutures)
• Single lipine ma ka poho o ka lima
• Nā pepeiao liʻiliʻi
• Waha liʻiliʻi
• ʻO nā maka slanting i luna
• Akea, nā lima pōkole me nā manamana pōkole
• Nā kiko keʻokeʻo ma ka ʻāpana kala o ka maka (nā kiko ʻo Brushfield)

ʻOi aku ka lohi o ka hoʻomohala kino ma mua o ka maʻamau. ʻO ka hapa nui o nā keiki me Down Syndrome ʻaʻole hiki i ke kiʻekiʻe kiʻekiʻe o nā mākua.

Ua hoʻolohi paha nā keiki i ka ulu ʻana o ka noʻonoʻo a me ka nohona. Pili pū paha nā pilikia maʻamau:

• Kaʻano impulsive
• Hoʻoholo maikaʻi ʻole
• Kahi nānā pōkole
• Aʻo lohi

Ke ulu a ʻike nei nā keiki me Down Syndrome i kā lākou palena, hiki paha iā lākou ke huhū a me ka huhū.

ʻIke ʻia nā ʻano olakino ʻokoʻa i ka poʻe me Down Syndrome, e like me:

• Nā kīnā hānau e pili ana i ka puʻuwai, e like me ka hemahema atrial septal hema a kīnā ʻole septtr ventricular septal
• ʻIke ʻia paha ke dementia
• ʻO nā pilikia o ka maka, e like me ka cataract (ʻo ka hapa nui o nā keiki me Down Syndrome pono nā aniani)
• ʻO ka luaʻi wanaʻao a me ka nui, kahi hōʻailona paha ia o ka poloka gastrointestinal, e like me ka esophageal atresia a me ka duodenal atresia
• Lohe paha i nā pilikia ma ka hoʻolohe ʻana
• Nā pilikia Hip a me ka makaʻu o ka hemo
• Nā pilikia paʻa paʻa wā lōʻihi (mau)
• ʻAno moe (no ka mea ua hoʻopili ka waha, ka ʻāʻī, a me ke ala ea i nā keiki me Down Syndrome)
• ʻO nā niho e ʻike ʻia ma hope o ka maʻamau a ma kahi e hoʻonā i nā pilikia me ka nau
• ʻO ka thyroid underactive (hypothyroidism)

Hiki i ke kauka ke hana i kahi hōʻailona o Down Syndrome ma ka hānau ʻana ma muli o ke ʻano o ka pēpē. Lohe paha ke kauka i kahi namunamu o ka puʻuwai ke hoʻolohe i ka umauma o ka pēpē me kahi stethoscope.

Hiki ke hana i kahi hōʻoia koko e nānā no ka chromosome keu a hōʻoia i ka ʻike.

Nā hoʻokolohua ʻē aʻe i hana ʻia e hoʻopili ʻia:

• Echocardiogram a me ECG e nānā no nā kīnā o ka puʻuwai (hana mau ʻia ma hope koke o ka hānau ʻana)
• X-kukuna o ka umauma a me ka gastrointestinal tract

Pono e nānā pono ka poʻe me Down Syndrome no kekahi ʻano olakino. Loaʻa iā lākou:

• ʻO kahi hoʻokolohua maka i kēlā me kēia makahiki i ka wā pēpē
• ʻO nā hoʻolohe ʻana i ka hoʻolohe ʻana i kēlā me kēia 6 a 12 mau mahina, kaukaʻi ʻia i ka makahiki
• Nā Niho Nānā i kēlā me kēia 6 mahina
• X-kukuna o ka iwi kuamoʻo o luna a cervielle paha ma waena o nā makahiki 3 a me 5 mau makahiki
• Hoʻomaka ka Pap smear a me nā pelvic exams i ka wā ʻōpio a i ʻole 21 mau makahiki
• Ke hoʻāʻo nei ʻo thyroid i kēlā me kēia 12 mahina

ʻAʻohe mālama kūikawā no Down Syndrome. Inā pono ka mālama ʻana, maʻa mau ia no nā pilikia olakino e pili pū ana. ʻO kahi laʻana, pono i kahi keiki i hānau ʻia me kahi ʻōpū o ka gastrointestinal e pono i ke kaha nui ma hope koke o ka hānau ʻana. Hiki i kekahi mau kīnā ʻole o ka puʻuwai ke koi i ke ʻoki.

Ke hānai umauma, pono e kākoʻo maikaʻi a pēpē loa ka pēpē. Loaʻa paha i kahi pēpē kahi pēpē ma muli o ke kaohi ʻole o ke alelo. Akā he nui nā pēpē me Down Syndrome hiki ke hānai maikaʻi i ka umauma.

Hiki i ka nui ke lilo i pilikia no nā keiki makua a me nā mākua. ʻO ka loaʻa ʻana o ka nui o ka hana a me ka hōʻalo ʻana i nā meaʻai calorie kiʻekiʻe he mea nui. Ma mua o ka hoʻomaka ʻana i nā hana haʻuki, pono ke nānā ʻia ka ʻāʻī o ke keiki a me nā hiʻupuʻu.

Hiki i ka hoʻomaʻamaʻomaʻomaʻomaʻomaʻomaʻo ke kōkua i ka poʻe me Down Syndrome a me ko lākou mau ʻohana e hana i ka huhū, ka huhū, a me nā hana koʻikoʻi e kū pinepine. Pono nā mākua a me nā mea mālama e aʻo e kōkua i kahi kanaka me Down syndrome e hana me ka huhū. I ka manawa like, he mea nui e paipai i ke kūʻokoʻa.

Hiki i nā kaikamahine ʻōpio a me nā wahine me Down Syndrome ke hāpai. Aia ka māhuahua o ka makaʻu no ka hana kolohe a me nā ʻano hana ʻino ʻē aʻe i nā kāne a me nā wahine. He mea nui ia no ka poʻe me Down Syndrome e:

• E aʻo ʻia e pili ana i ka hāpai ʻana a me ka mālama pono ʻana
• E aʻo e kākoʻo no lākou iho i nā hanana paʻakikī
• E i kahi palekana

Inā loaʻa i kekahi kanaka nā kīnā o ka puʻuwai a i ʻole nā ​​pilikia puʻuwai ʻē aʻe, pono e kuhikuhi ʻia nā lāʻau antibiotic e pale i kahi maʻi puʻuwai i kapa ʻia endocarditis.

Hāʻawi ʻia ka ʻike kūikawā a me ka hoʻomaʻamaʻa ʻana i ka hapa nui o nā kaiāulu no nā keiki me ka hoʻopaneʻe ʻana i ka ulu ʻana o ka noʻonoʻo. Hiki ke kōkua i ka haʻi ʻōlelo i ka hoʻomaikaʻi ʻana i ka mākau ʻōlelo. E aʻo paha ke olakino kino i ka mākau neʻe. Hiki ke kōkua i ka hana ʻoihana me ka hānai ʻana a me ka hana ʻana i nā hana. Hiki i ke olakino noʻonoʻo ke kōkua i nā mākua a me ke keiki e hoʻokele i ka naʻau a i ʻole nā ​​pilikia hana. Pono pū kekahi i nā mea aʻo kūikawā.

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻike hou aku ma Down Syndrome:

• Nā kikowaena no ka kaohi ʻana a me ka Kāohi ʻana i ka maʻi - www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• National Down Syndrome Society - www.ndss.org
• National Down Syndrome ʻAhaʻōlelo - www.ndsccenter.org
• NIH Genetics Home Reference - ghr.nlm.nih.gov/condition/down-syndrome

ʻOiai he nui nā keiki me Down Syndrome i loaʻa nā palena o ke kino a me ka noʻonoʻo, hiki iā lākou ke noho kūʻokoʻa a me nā huahana kūpono i ka wā makua.

Ma kahi o hoʻokahi hapalua o nā keiki me Down Syndrome i hānau ʻia me nā pilikia puʻuwai, e like me ka hemahema atrial septal, ka maʻi kīnā o ka ventricular, a me nā kīnā o ka cushion endocardial Hiki i nā pilikia puʻuwai nui ke alakaʻi i ka make mua.

Loaʻa ka nui o ka makaʻu o ka poʻe me Down Syndrome no kekahi ʻano leukemia, a he mea ia e hoʻomaka ai i ka make mua.

ʻOkoʻa ka pae o ke kīnā ʻole o ka ʻike, akā haʻahaʻa. ʻO ka poʻe mākua me Down Syndrome ka hoʻonui i ka makaʻu no ka dementia.

Pono e nīnau aku i kahi mea mālama ola e hoʻoholo inā pono ka keiki i ka hoʻonaʻauao kūikawā a me ka hoʻomaʻamaʻa. He mea nui ia i ke keiki ke nānā mau me ke kauka.

Paipai ka poʻe loea i ka ʻōlelo aʻoaʻo kūlohelohe no ka poʻe me ka moʻolelo ʻohana o Down Syndrome e makemake nei e hānau keiki.

Hoʻonui ka makaʻu o ka wahine i ka loaʻa ʻana o kahi keiki me Down Syndrome i kona wā ʻelemakule. ʻOi aku ka kiʻekiʻe ma mua o nā wahine 35 a ʻoi.

ʻO nā kāne i loaʻa i kahi pēpē me Down Syndrome ka nui o ka makaʻu o ka loaʻa ʻana o kahi pēpē ʻē aʻe me ke ʻano.

ʻO nā hoʻāʻo e like me ka nuchal translucency ultrasound, amniocentesis, a chorionic villus sampling hiki ke hana ʻia ma kahi ʻōpū i nā mau mahina mua o ka hāpai ʻana e nānā ai no Down Syndrome.

ʻO Trisomy 21

Bacino CA, Lee B. Cytogenetics. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 98.

ʻO Driscoll DA, Simpson JL, Holzgreve W, Otano L. Ke kānana genetic a me ka ʻike genen prenatal. I: Gabbe SG, Niebyl JR, Simpson JL, et al, eds. Nā Obstetrics: Nā Pregnancies Maʻamau a me nā pilikia. ʻEpekema 7 Piladelapia, PA: Elsevier; 2017: chap 10.

Nussbaum RL, McInnes RR, Willard HF. ʻO ke kumu chromosomal a me genomic o nā maʻi: nā maʻi o nā autosome a me nā chromosome wahine. I: Nussbaum RL, McInnes RR, Willard HF, hua. ʻO Thompson lāua ʻo Thompson Genetics i ka Lapaʻau. 8th ed. Piladelapia, PA: Elsevier; 2016: chap 6.