I-Down syndrome

I-Down syndrome yisimo sezakhi zofuzo lapho umuntu enama-chromosomes angama-47 esikhundleni se-46 ejwayelekile.

Ezimweni eziningi, i-Down syndrome yenzeka uma kunekhophi eyengeziwe ye-chromosome 21. Leli fomu le-Down syndrome libizwa ngokuthi i-trisomy 21. I-chromosome eyengeziwe idala izinkinga ngendlela umzimba nobuchopho obukhula ngayo.

I-Down syndrome ingenye yezimbangela ezivame kakhulu zokukhubazeka kokuzalwa.

Izimpawu ze-Down syndrome ziyahlukahluka kuye ngomuntu futhi zingahluka ukusuka kokuncane kuya kokubi. Akunandaba noma ngabe isimo sinzima kangakanani, abantu abane-Down syndrome banokubukeka okwaziwa kabanzi.

Ikhanda lingaba lincane kunokujwayelekile futhi limiswe ngokungajwayelekile. Isibonelo, ikhanda lingaba yindilinga ngendawo eyisicaba ngemuva. Ikhona elingaphakathi lamehlo kungenzeka ukuthi liyindilinga esikhundleni sokukhonjwa.

Izimpawu zomzimba ezijwayelekile zifaka:

• Ukwehla kwethoni yemisipha lapho ezalwa
• Isikhumba esingeqile entanyeni yentamo
• Impumulo ethambile
• Amalunga ahlukanisiwe phakathi kwamathambo ogebhezi (ama-sutures)
• I-crease eyodwa entendeni yesandla
• Izindlebe ezincane
• Umlomo omncane
• Amehlo abheke phezulu
• Izandla ezibanzi nezifushane ezineminwe emifushane
• Amabala amhlophe engxenyeni enemibala yeso (amabala weBrushfield)

Ukuthuthuka komzimba kuvame ukuhamba kancane kunokujwayelekile. Iningi lezingane ezine-Down syndrome azifinyeleli kubude obuphakathi kwabantu abadala.

Izingane kungenzeka ukuthi ziye zabambezela ukukhula kwengqondo nomphakathi. Izinkinga ezivamile zingafaka:

• Ukuziphatha okungathatheki
• Ukwahlulela kabi
• Isikhathi esifushane sokunaka
• Ukufunda kancane

Njengoba izingane ezine-Down syndrome zikhula futhi zikwazi ukulinganiselwa kwazo, zingazizwa zikhungathekile futhi zithukuthele.

Izimo eziningi ezehlukene zezokwelapha ziyabonakala kubantu abane-Down syndrome, kufaka phakathi:

• Ukukhubazeka kokuzalwa okubandakanya inhliziyo, njengesici se-atrial septal noma i-ventricular septal defect
• Ukuwohloka komqondo kungabonakala
• Izinkinga zamehlo, ezinjenge-cataract (izingane eziningi ezine-Down syndrome zidinga izibuko)
• Ukuhlanza kusenesikhathi futhi okukhulu, okungaba wuphawu lokuvaleka kwamathumbu, okufana ne-esophageal atresia ne-duodenal atresia
• Izinkinga zokuzwa, mhlawumbe ezibangelwa ukutheleleka okuphindelela kwezindlebe
• Izinkinga ze-Hip nobungozi bokuhlukaniswa
• Izinkinga zokuqunjelwa zesikhathi eside (ezingapheli)
• I-apnea yokulala (ngoba umlomo, umphimbo, kanye nomoya kunciphile ezinganeni ezine-Down syndrome)
• Amazinyo avela kamuva kunokujwayelekile nasendaweni engadala izinkinga ngokuhlafuna
• I-thyroid engasebenzi (i-hypothyroidism)

Udokotela kaningi angenza ukuthi kutholakale ukuthi une-Down syndrome lapho ezalwa ngokuya ngokuthi ingane ibukeka kanjani. Udokotela angase ezwe inhliziyo ibubula lapho elalele isifuba somntwana nge-stethoscope.

Ukuhlolwa kwegazi kungenziwa ukubheka i-chromosome eyengeziwe nokuqinisekisa ukuxilongwa.

Olunye uvivinyo olungenziwa lubandakanya:

• I-Echocardiogram ne-ECG ukuhlola ukukhubazeka kwenhliziyo (okuvame ukwenziwa ngemuva nje kokuzalwa)
• I-X-ray yesifuba kanye nomgudu wamathumbu

Abantu abane-Down syndrome badinga ukuhlolwa ngokucophelela ngezimo ezithile zezokwelapha. Kufanele babe:

• Ukuhlolwa iso minyaka yonke ngesikhathi sobuntwana
• Ukuzwa ukuhlolwa njalo ezinyangeni eziyisithupha kuya kwezingu-12, kuya ngeminyaka
• Ukuhlolwa kwamazinyo njalo ezinyangeni eziyisithupha
• Ama-X-ray womgogodla ongaphezulu noma wesibeletho ophakathi kweminyaka engu-3 nengu-5
• I-Pap smears nezivivinyo ze-pelvic eziqala ngesikhathi sokuthomba noma ngeminyaka engu-21
• Ukuhlolwa kwendlala yegilo njalo ezinyangeni eziyi-12

Akukho ukwelashwa okuqondile kwe-Down syndrome. Uma ukwelashwa kuyadingeka, imvamisa kuyizinkinga zezempilo ezihambisanayo. Isibonelo, ingane ezalwe ikhubazekile emathunjini ingadinga ukuhlinzwa okukhulu ngemuva nje kokuzalwa. Ukukhubazeka okuthile kwenhliziyo kungadinga nokuhlinzwa.

Lapho uncelisa, ingane kufanele isekelwe kahle futhi ivuke ngokuphelele. Ingane ingaba nokuvuza okuthile ngenxa yokungalawulwa kahle kolimi. Kodwa izingane eziningi ezine-Down syndrome zingancelisa ngempumelelo ibele.

Ukukhuluphala ngokweqile kungaba yinkinga ezinganeni ezindala nakubantu abadala. Ukuthola umsebenzi omningi nokugwema ukudla okunama-khalori aphezulu kubalulekile. Ngaphambi kokuqala imisebenzi yezemidlalo, kufanele kuhlolwe intamo nezinqulu zengane.

Ukuqeqeshwa ngokuziphatha kungasiza abantu abane-Down syndrome kanye nemindeni yabo ukubhekana nokukhungatheka, intukuthelo nokuziphatha okuphoqelelayo okuvame ukwenzeka. Abazali nabanakekeli kufanele bafunde ukusiza umuntu one-Down syndrome ukuthi abhekane nokukhungatheka. Ngasikhathi sinye, kubalulekile ukukhuthaza ukuzimela.

Amantombazane asemancane nabesifazane abane-Down syndrome imvamisa bayakwazi ukukhulelwa. Kukhona ingozi eyengeziwe yokuhlukunyezwa ngokocansi nezinye izinhlobo zokuhlukunyezwa kwabesilisa nabesifazane. Kubalulekile kulabo abane-Down syndrome ukuthi:

• Fundiswa ngokukhulelwa nokuthatha izinyathelo zokuzivikela ezifanele
• Funda ukuzikhulumela ezimweni ezinzima
• Yiba endaweni ephephile

Uma umuntu enezinkinga zenhliziyo noma ezinye izinkinga zenhliziyo, ama-antibiotic angadinga ukunikezwa ukuvimbela ukutheleleka kwenhliziyo okubizwa nge-endocarditis.

Imfundo nokuqeqeshwa okukhethekile kunikezwa emiphakathini eminingi ezinganeni ezinokubambezeleka ekukhuleni kwengqondo. Ukwelashwa kwenkulumo kungasiza ekuthuthukiseni amakhono olimi. Ukwelashwa ngokomzimba kungafundisa amakhono okuhamba. Ukwelashwa emsebenzini kungasiza ngokudla nokwenza imisebenzi. Ukunakekelwa kwengqondo kungasiza bobabili abazali nengane ukuphatha izinkinga zemizwa noma zokuziphatha. Kudingeka othisha abakhethekile.

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-Down syndrome:

• Izikhungo Zokulawulwa Nokuvimbelwa Kwezifo - www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• INational Down Syndrome Society - www.ndss.org
• INational Down Syndrome Congress - www.ndsccenter.org
• Inkomba yasekhaya ye-NIH Genetics - ghr.nlm.nih.gov/condition/down-syndrome

Yize izingane eziningi ezine-Down syndrome zikwazi ukukhubazeka ngokomzimba nangokwengqondo, zingaphila izimpilo ezizimele nezikhiqizayo zikhulele ebudaleni.

Cishe uhhafu wezingane ezine-Down syndrome zizalwa zinezinkinga zenhliziyo, kufaka phakathi i-atrial septal defect, i-ventricular septal defect, kanye ne-endocardial cushion defect. Izinkinga ezinkulu zenhliziyo zingaholela ekufeni kusenesikhathi.

Abantu abane-Down syndrome banengozi eyengeziwe yezinhlobo ezithile ze-leukemia, nayo engadala ukufa ngaphambi kwesikhathi.

Izinga lokukhubazeka kwengqondo liyahlukahluka, kepha imvamisa lilinganiselwe. Abantu abadala abane-Down syndrome banengozi eyengeziwe yokuwohloka komqondo.

Kufanele kuboniswane nomhlinzeki wezokunakekelwa kwezempilo ukuthola ukuthi ngabe ingane idinga imfundo noqeqesho olukhethekile. Kubalulekile ukuthi ingane ihlolwe njalo nodokotela.

Ochwepheshe batusa ukwelulekwa ngezakhi zofuzo kubantu abanomlando womndeni we-Down syndrome abafisa ukuba nengane.

Ingozi yowesifazane yokuba nengane ene-Down syndrome iyanda njengoba ekhula. Ingozi iphezulu kakhulu phakathi kwabesifazane abaneminyaka engama-35 nangaphezulu.

Imibhangqwana esivele inengane ene-Down syndrome inengozi enkulu yokuba nenye ingane enalesi sifo.

Ukuhlolwa okufana ne-nuchal translucency ultrasound, amniocentesis, noma i-chorionic villus sampling kungenziwa embungwini ezinyangeni ezimbalwa zokuqala zokukhulelwa ukuhlola i-Down syndrome.

I-Trisomy 21

IBacino CA, uLee B. ICytogenetics. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 98.

UDriscoll DA, uSimpson JL, uHolzgreve W, u-Otano L. Ukuhlolwa kofuzo nokuxilongwa kwezakhi zofuzo ngaphambi kokubeletha. Ku: Gabbe SG, Niebyl JR, Simpson JL, et al, eds. Ama-Obstetrics: Ukukhulelwa Okujwayelekile Nenkinga. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2017: isahluko 10.

UNussbaum RL, McInnes RR, uWillard HF. Isisekelo se-chromosomal ne-genomic sesifo: ukuphazamiseka kwama-autosomes nama-chromosomes ocansi. Ku: Nussbaum RL, McInnes RR, Willard HF, ama-eds. Thompson noThompson Genetics kwezokwelapha. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2016: isahluko 6.