Down syndrome

Down syndrome ke boemo ba lefutso moo motho a nang le li-chromosome tse 47 ho fapana le tse 46 tse tloaelehileng.

Maemong a mangata, Down syndrome e hlaha ha ho na le khopi e eketsehileng ea chromosome 21. Mofuta ona oa Down syndrome o bitsoa trisomy 21. Chromosome e eketsehileng e baka mathata ka tsela eo 'mele le boko bo hōlang ka eona.

Down syndrome ke e 'ngoe ea lisosa tse tloaelehileng tsa bofokoli ba pelehi.

Matšoao a Down syndrome a fapana ho tloha ho motho ho ea ho motho, 'me a ka tloha ho tloha bobeng ho ea ho bo tebileng. Ho sa tsotelehe hore na boemo bo bobe hakae, batho ba nang le Down syndrome ba na le chebahalo e tsebahalang haholo.

Hlooho e kanna ea ba nyane ho feta e tloaelehileng ebile e bopehile ka mokhoa o sa tloaelehang. Mohlala, hlooho e kanna ea ba chitja ka sebaka se bataletseng ka morao. Sekhutlo se kahare sa mahlo se kanna sa ba chitja ho fapana le ho supa.

Matšoao a tloaelehileng a kenyeletsa:

• Ho fokotsa molumo oa mesifa nakong ea tsoalo
• Letlalo le feteletseng nape ea molala
• Nko e sephara
• Likarolo tse arohaneng lipakeng tsa masapo a lehata (sutures)
• Sekhahla se le seng letsohong la letsoho
• Litsebe tse nyane
• Molomo o monyane
• Mahlo a shebileng hodimo
• Matsoho a sephara, a makgutshwane ka menwana e mekgutshwane
• Matheba a masoeu karolong e mebala ea leihlo (mabala a Brushfield)

Kholiso ea 'mele hangata e lieha ho feta e tloaelehileng. Boholo ba bana ba nang le Down syndrome ha ba fihle bolelele ba batho ba baholo.

Bana le bona ba kanna ba lieha kholo ea kelello le sechaba. Mathata a tloaelehileng a ka kenyelletsa:

• Boitšoaro bo sa tsitsang
• Kahlolo e fokolang
• Tlhokomelo e khutšoane
• Ho ithuta butle

Ha bana ba nang le Down syndrome ba ntse ba hola 'me ba hlokomela mefokolo ea bona, le bona ba ka ikutloa ba ferekane ebile ba halefa.

Maemo a mangata a fapaneng a bongaka a bonoa ho batho ba nang le Down syndrome, ho kenyeletsoa:

• Liphoso tsa tsoalo tse amang pelo, joalo ka bofokoli ba septal kapa ventricular septal defect
• Dementia e ka bonahala
• Mathata a mahlo, joalo ka lera la mahlo (bana ba bangata ba nang le Down syndrome ba hloka likhalase)
• Ho hlatsa kapele le ka matla, e ka bang sesupo sa ho koaloa ha masapo, joalo ka esophageal atresia le duodenal atresia
• Mathata a ho utloa, mohlomong a bakoang ke tšoaetso ea tsebe e phetoang khafetsa
• Mathata a letheka le kotsi ea ho senyeha
• Mathata a ho sokela a nako e telele (a sa foleng)
• Ho phomola ha motho a robetse (hobane molomo, 'metso le moea o fokotsang moea li fokolitsoe ke bana ba nang le Down syndrome)
• Meno a hlahang kamora nako e tloaelehileng le sebakeng se ka bakang mathata ka ho hlafuna
• Qoqotho e sa sebetseng (hypothyroidism)

Hangata ngaka e ka hlahloba lefu la Down syndrome ha le hlaha ho latela hore na ngoana o shebahala joang. Ngaka e ka utloa ho honotha ha pelo ha e mametse sefuba sa lesea ka stethoscope.

Ho ka etsoa tlhahlobo ea mali ho hlahloba chromosome e eketsehileng le ho netefatsa hore na e fumanoa joang.

Liteko tse ling tse ka etsoang li kenyelletsa:

• Echocardiogram le ECG ho lekola liphoso tsa pelo (hangata li etsoa kapele kamora ho hlaha)
• X-ray ea sefuba le pampiri ea meno

Batho ba nang le Down syndrome ba hloka ho hlahlojoa ka hloko bakeng sa maemo a itseng a bongaka. Ba lokela ho ba le:

• Ho hlahlojoa mahlo selemo se seng le se seng nakong ea bongoana
• Liteko tsa ho utloa ka likhoeli tse 6 ho isa ho tse 12, ho latela lilemo
• Litlhahlobo tsa meno likhoeli tse ling le tse ling tse 6
• X-ray ea mokokotlo o ka holimo kapa oa mokokotlo oa mokokotlo lipakeng tsa lilemo tse 3 le tse 5
• Pap smears le litlhahlobo tsa pelvic ho qala nakong ea bocha kapa ha a le lilemo li 21
• Ho hlahlojoa ha qoqotho likhoeling tse ling le tse ling tse 12

Ha ho na kalafo e khethehileng bakeng sa Down syndrome. Haeba kalafo e hlokahala, hangata ke ea mathata a amanang le bophelo bo botle. Mohlala, ngoana ea hlahileng a na le tšitiso ea mala a ka hloka opereishene e kholo hang kamora ho hlaha. Liphoso tse ling tsa pelo li kanna tsa hloka ho buuoa.

Ha a anyesa, lesea le lokela ho tšehetsoa hantle le ho tsoha ka botlalo. Lesea le ka ba le dutla ka lebaka la taolo e fosahetseng ya leleme. Empa masea a mangata a nang le Down syndrome a ka anyesa ka katleho.

Botenya bo ka fetoha bothata ho bana ba baholo le ho batho ba baholo. Ho fumana mesebetsi e mengata le ho qoba lijo tse nang le likhalori tse ngata ho bohlokoa. Pele a qala mesebetsi ea lipapali, molala le letheka la ngoana li lokela ho hlahlojoa.

Koetliso ea boits'oaro e ka thusa batho ba nang le Down syndrome le malapa a bona ho sebetsana le ho ferekana, ho halefa le boitšoaro bo qobelloang bo atisang ho etsahala. Batsoali le bahlokomeli ba lokela ho ithuta ho thusa motho ea nang le Down syndrome ho sebetsana le ho ferekana maikutlo. Ka nako e ts'oanang, ho bohlokoa ho khothaletsa boipuso.

Banana le basali ba lilemong tsa bocha ba nang le Down syndrome hangata ba khona ho ima. Ho na le kotsi e eketsehileng ea tlhekefetso ea thobalano le mefuta e meng ea tlhekefetso ho banna le basali. Ho bohlokoa ho ba nang le Down syndrome ho:

• Ruta ka boimana le ho nka mehato e loketseng ea ho itšireletsa
• Ithute ho ipuella maemong a thata
• Eba tikolohong e bolokehileng

Haeba motho a na le bofokoli bofe kapa bofe pelong kapa a na le mathata a mang a pelo, lithibela-mafu li ka hloka ho laeloa ho thibela tšoaetso ea pelo e bitsoang endocarditis.

Ho fanoa ka thuto e khethehileng le koetliso metseng e mengata bakeng sa bana ba nang le tieho ea kholo ea kelello. Phekolo ea puo e ka thusa ho ntlafatsa tsebo ea puo. Phekolo ea 'mele e ka ruta bokhoni ba ho tsamaea. Kalafo ea mosebetsing e ka thusa ka ho fepa le ho etsa mesebetsi. Tlhokomelo ea kelello e ka thusa batsoali le ngoana ho sebetsana le mathata a maikutlo kapa a boitšoaro. Hangata ho hlokahala matichere a khethehileng.

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ka Down syndrome:

• Litsi tsa Tlhokomelo le Thibelo ea Maloetse - www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• Mokhatlo oa National Down Syndrome - www.ndss.org
• National Down Syndrome Congress - www.ndsccenter.org
• Thupiso ea Lehae la NIH Genetics - ghr.nlm.nih.gov/condition/down-syndrome

Leha bana ba bangata ba nang le Down syndrome ba na le meeli 'meleng le kelellong, ba ka phela bophelo bo ikemetseng le bo atlehang ho fihlela e eba batho ba baholo.

Hoo e ka bang halofo ea bana ba nang le Down syndrome ba hlaha ba e-na le mathata a pelo, ho kenyelletsa le atrial septal defect, ventricular septal defect, le endocardial cushion defect. Mathata a tebileng a pelo a ka lebisa lefung la pele ho nako.

Batho ba nang le Down syndrome ba na le kotsi e eketsehileng ea mefuta e itseng ea kankere ea mali, e ka bakang lefu la pele ho nako.

Boemo ba bokooa ba kelello bo fapana, empa hangata bo itekanetse. Batho ba baholo ba nang le Down syndrome ba na le kotsi e eketsehileng ea 'dementia'.

Ho lokela ho buisanoe le mofani oa tlhokomelo ea bophelo ho fumana hore na ngoana o hloka thuto e khethehileng le koetliso. Ho bohlokoa hore ngoana a hlahlojoe khafetsa le ngaka.

Litsebi li khothaletsa tlhabollo ea lefutso ho batho ba nang le nalane ea malapa ea Down syndrome ba lakatsang ho ba le ngoana.

Monyetla oa hore mosali a be le ngoana ea nang le Down syndrome oa eketseha ha a ntse a tsofala. Kotsi e phahame haholo ho basali ba lilemo li 35 le ho feta.

Banyalani ba seng ba ntse ba e-na le ngoana ea nang le Down syndrome ba na le kotsi e kholo ea ho ba le ngoana e mong ea nang le boemo boo.

Liteko tse kang nuchal translucency ultrasound, amniocentesis, kapa chorionic villus sampling li ka etsoa ho lesea nakong ea likhoeli tsa pele tsa bokhachane ho hlahloba Down syndrome.

Trisomy 21

Bacino CA, Lee B. Cytogenetics. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 98.

Driscoll DA, Simpson JL, Holzgreve W, Otano L. Tlhahlobo ea liphatsa tsa lefutso le tlhahlobo ea liphatsa tsa lefutso tsa bakhachane. Ka: Gabbe SG, Niebyl JR, Simpson JL, et al, eds. Likokoana-hloko: Bokhachane bo tloaelehileng le ba bothata. La 7th. Philadelphia, PA: Elsevier; 2017: khaolo ea 10.

Nussbaum RL, McInnes RR, Willard HF. Chromosomal le genomic motheo oa lefu: mathata a li-autosomes le li-chromosomes tsa thobalano. Ka: Nussbaum RL, McInnes RR, Willard HF, bahlophisi. Thompson le Thompson liphatsa tsa lefutso tsa bongaka. La 8th. Philadelphia, PA: Elsevier; 2016: khaolo ea 6.