Matenda a Down

Down syndrome ndi chibadwa chomwe chimakhala ndi ma chromosomes 47 m'malo mwa 46 wamba.

Nthawi zambiri, matenda a Down syndrome amapezeka ngati pali chromosome ina 21. Mtundu uwu wa Down syndrome umatchedwa trisomy 21. Chromosome yowonjezera imayambitsa mavuto momwe thupi ndi ubongo zimakulira.

Down syndrome ndi chimodzi mwazomwe zimayambitsa kufooka kwa kubadwa.

Zizindikiro za Down syndrome zimasiyanasiyana malinga ndi munthu ndipo zimatha kuyambira wofatsa mpaka wolimba. Ngakhale zili zovuta bwanji, anthu omwe ali ndi Down syndrome amakhala ndi mawonekedwe odziwika bwino.

Mutu ukhoza kukhala wocheperako kuposa wabwinobwino komanso wopangidwa modabwitsa. Mwachitsanzo, mutu ukhoza kukhala wozungulira wokhala ndi malo athyathyathya kumbuyo. Kona lamkati lamaso limatha kuzungulira m'malo moloza.

Zizindikiro wamba zimaphatikizapo:

• Kuchepetsa kuchepa kwa minofu pakubadwa
• Khungu lochulukirapo pamutu wa khosi
• Mphuno yokhazikika
• Magulu olekanitsidwa pakati pa mafupa a chigaza (sutures)
• Kutsekemera kumodzi mdzanja lamanja
• Makutu ang'onoang'ono
• Kamwa kakang'ono
• Maso akwezeka m'mwamba
• Kutambalala, manja amfupi ndi zala zazifupi
• Mawanga oyera mbali yakuda ya diso (mawanga a Brushfield)

Kukula thupi nthawi zambiri kumachedwetsa kuposa zachilendo. Ana ambiri omwe ali ndi Down syndrome samakula msinkhu.

Ana amathanso kuchedwetsa kukula kwamisala komanso chikhalidwe. Mavuto omwe angakhalepo angaphatikizepo:

• Kutengeka mtima
• Kusazindikira bwino
• Kutalika kwakanthawi
• Pang'onopang'ono kuphunzira

Ana omwe ali ndi Down syndrome akamakula ndikuzindikira zomwe sangathe kuchita, amathanso kukhumudwa komanso kukwiya.

Matenda osiyanasiyana amasiyana amapezeka mwa anthu omwe ali ndi Down syndrome, kuphatikiza:

• Zolephera zakubadwa zomwe zimakhudza mtima, monga vuto la atrial septal kapena vuto la septal la ventricular
• Dementia imatha kuwoneka
• Mavuto amaso, monga ng'ala (ana ambiri omwe ali ndi Down syndrome amafunika magalasi)
• Kusanza koyambirira komanso kwakukulu, komwe kungakhale chizindikiro cha kutsekeka kwa m'mimba, monga esophageal atresia ndi duodenal atresia
• Mavuto akumva, mwina obwera chifukwa chobadwanso m'makutu
• Mavuto a mchiuno ndi chiopsezo chosokonezeka
• Mavuto a kudzimbidwa kwanthawi yayitali (kwanthawi yayitali)
• Kugona kwa mphuno (chifukwa mkamwa, mmero, ndi mayendedwe amafupika mwa ana omwe ali ndi Down syndrome)
• Mano omwe amapezeka mochedwa kuposa nthawi zonse komanso pamalo omwe angayambitse mavuto ndikutafuna
• Chithokomiro chosagwira ntchito (hypothyroidism)

Dokotala amatha kudziwa ngati ali ndi matendawa atabadwa kutengera momwe mwanayo amawonekera. Dokotala amatha kumva kung'ung'udza kwamtima akamamvera chifuwa cha mwana ndi stethoscope.

Kuyezetsa magazi kumatha kuchitika kuti muwone ngati pali chromosome yowonjezera ndikutsimikizira kuti ali ndi matendawa.

Mayesero ena omwe angachitike ndi awa:

• Echocardiogram ndi ECG kuti muwone zolakwika za mtima (zomwe zimachitika atangobadwa)
• X-ray ya pachifuwa ndi m'mimba

Anthu omwe ali ndi Down syndrome amafunika kuwunikidwa mosamala ngati ali ndi matenda ena. Ayenera kukhala ndi:

• Kuyesedwa kwa diso chaka chilichonse kuyambira ali wakhanda
• Kumva mayeso pakatha miyezi 6 mpaka 12 iliyonse, kutengera zaka
• Mayeso a mano miyezi isanu ndi umodzi iliyonse
• X-ray ya msana wapamwamba kapena wamtundu wa chiberekero wazaka zapakati pa 3 ndi 5
• Pap smears ndi mayeso amchiuno amayamba nthawi yakutha msinkhu kapena azaka 21
• Kuyesedwa kwa chithokomiro miyezi 12 iliyonse

Palibe mankhwala enieni a Down syndrome. Ngati chithandizo chikufunika, nthawi zambiri chimakhala chifukwa cha zovuta zina zathanzi. Mwachitsanzo, mwana wobadwa ndi chotupa cha m'mimba angafunike kuchitidwa opaleshoni yayikulu atangobadwa. Zofooka zina za mtima zingafunikire kuchitidwa opaleshoni.

Mukamayamwitsa, mwana ayenera kuthandizidwa bwino ndikudzuka bwino. Mwanayo atha kutayikira chifukwa cholephera kuyankhula bwino. Koma ana ambiri omwe ali ndi Down syndrome amatha kuyamwa bwino.

Kunenepa kwambiri kumatha kukhala vuto kwa ana okalamba komanso achikulire. Kupeza zochitika zambiri ndikupewa zakudya zopatsa mphamvu ndizofunikira. Asanayambe zochitika zamasewera, khosi ndi chiuno cha mwana ziyenera kuyesedwa.

Khalidwe labwino limatha kuthandiza anthu omwe ali ndi Down syndrome komanso mabanja awo kuthana ndi zokhumudwitsa, mkwiyo, komanso zizolowezi zomwe zimachitika nthawi zambiri. Makolo ndi omwe amawasamalira ayenera kuphunzira kuthandiza munthu yemwe ali ndi Down syndrome kuthana ndi kukhumudwa. Nthawi yomweyo, ndikofunikira kulimbikitsa kudziyimira pawokha.

Atsikana ndi atsikana omwe ali ndi Down syndrome nthawi zambiri amatha kutenga pakati. Pali chiopsezo chowonjezeka cha nkhanza zakugonana ndi mitundu ina ya nkhanza kwa amuna ndi akazi. Ndikofunikira kwa iwo omwe ali ndi Down syndrome kuti:

• Aphunzitsidwe za kutenga pakati ndi kutenga njira zoyenera zodzitetezera
• Phunzirani kudzilankhulira okha pazovuta
• Khalani m'malo otetezeka

Ngati munthuyo ali ndi vuto la mtima kapena mavuto ena amtima, maantibayotiki angafunike kulembedwa kuti ateteze matenda amtima otchedwa endocarditis.

Maphunziro ndi maphunziro apadera amaperekedwa m'malo ambiri kwa ana omwe akuchedwa kukula m'maganizo. Chithandizo chamalankhulidwe chitha kuthandizira kukulitsa luso la chilankhulo. Thandizo lakuthupi lingaphunzitse luso loyenda. Thandizo lantchito lingathandize pakudyetsa komanso kuchita ntchito. Chisamaliro chamaganizidwe chitha kuthandiza makolo komanso mwana kuthana ndi zovuta zamakhalidwe kapena machitidwe. Ophunzitsa apadera amafunikanso nthawi zambiri.

Zinthu zotsatirazi zitha kukupatsirani zambiri za Down syndrome:

• Malo Othandizira Kuletsa ndi Kuteteza Matenda - www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• National Down Syndrome Society - www.ndss.org
• National Down Syndrome Congress - www.ndsccenter.org
• Buku Lofotokozera la NIH Genetics - ghr.nlm.nih.gov/condition/down-syndrome

Ngakhale ana ambiri omwe ali ndi Down syndrome amalephera kuchita masewera olimbitsa thupi, amatha kukhala moyo wodziyimira pawokha komanso wopindulitsa atakula.

Pafupifupi theka la ana omwe ali ndi Down syndrome amabadwa ndi mavuto amtima, kuphatikiza ziwalo zamatenda, zotumphukira zam'mitsempha yam'mimba, komanso zopindika zamatenda. Mavuto akulu amtima atha kubweretsa kufa msanga.

Anthu omwe ali ndi matendawa ali ndi chiopsezo chowonjezeka cha mitundu ina ya khansa ya m'magazi, yomwe imayambitsanso kufa msanga.

Mulingo waulemerero waluntha umasiyana, koma nthawi zambiri umakhala wowerengeka. Akuluakulu omwe ali ndi Down syndrome amakhala ndi chiopsezo chowonjezeka cha matenda amisala.

Wofunsa zaumoyo ayenera kufunsidwa kuti adziwe ngati mwanayo akufuna maphunziro apadera ndi maphunziro. Ndikofunika kuti mwanayo azikayezetsa pafupipafupi ndi dokotala.

Akatswiri amalangiza uphungu wamtundu wa anthu omwe ali ndi mbiri ya banja la Down syndrome omwe akufuna kukhala ndi mwana.

Chiopsezo cha mayi chokhala ndi mwana ndi Down syndrome chimakula akamakalamba. Zowopsa ndizokwera kwambiri pakati pa azimayi azaka 35 kapena kupitilira apo.

Mabanja omwe ali kale ndi mwana yemwe ali ndi Down syndrome ali ndi chiopsezo chowonjezeka chokhala ndi mwana wina yemwe ali ndi vutoli.

Mayeso monga nuchal translucency ultrasound, amniocentesis, kapena chorionic villus sampling atha kuchitidwa pa mwana wosabadwayo m'miyezi ingapo yoyambirira ya mimba kuti akafufuze Down syndrome.

Trisomy 21

Bacino CA, Lee B. Cytogenetics. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 98.

Driscoll DA, Simpson JL, Holzgreve W, Otano L. Kuwunika kwa majeremusi ndi matenda opatsirana pogonana. Mu: Gabbe SG, Niebyl JR, Simpson JL, et al, olemba. Obstetrics: Mimba Yachibadwa ndi Mavuto. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2017: mutu 10.

Nussbaum RL, McInnes RR, Willard HF (Adasankhidwa) Chromosomal and genomic maziko a matenda: zovuta zama autosomes ndi ma chromosomes ogonana. Mu: Nussbaum RL, McInnes RR, Willard HF, olemba. Thompson ndi Thompson Genetics mu Mankhwala. 8th ed. Philadelphia, PA: Elsevier; 2016: mutu 6.