Isifo esiphantsi

I-Down syndrome yimeko yemfuza apho umntu ene-chromosomes ezingama-47 endaweni yesiqhelo ezingama-46.

Kwiimeko ezininzi, i-Down syndrome yenzeka xa kukho ikopi eyongezelelweyo ye-chromosome 21. Le fomu ye-Down syndrome ibizwa ngokuba yi-trisomy 21. I-chromosome eyongezelelweyo ibangela iingxaki ngendlela umzimba nengqondo ezikhula ngayo.

I-Down syndrome yenye yezona zinto zixhaphakileyo zokuzala.

Iimpawu zesifo se-Down syndrome ziyahluka ukusuka komnye umntu ukuya komnye kwaye zingahluka ukusuka kobumnene ukuya kobunzima. Nokuba imeko imbi kangakanani, abantu abane-Down syndrome banembonakalo eyaziwayo ngokubanzi.

Intloko inokuba ncinci kunesiqhelo kwaye imile ngokungaqhelekanga. Umzekelo, intloko inokuba ijikeleze ngendawo ethe tyaba ngasemva. Ikona elingaphakathi lamehlo linokujikelezwa endaweni yokukhomba.

Iimpawu zomzimba eziqhelekileyo zibandakanya:

• Ukuncipha kwemisipha ngexesha lokuzalwa
• Isikhumba esigqithisileyo kwinape yentamo
• Impumlo ethe tyaba
• Amalungu ahlukeneyo phakathi kwamathambo okakayi (sutures)
• Ukuqhekeka okukodwa entendeni yesandla
• Iindlebe ezincinci
• Umlomo omncinci
• Amehlo ajonge phezulu
• Izandla ezibanzi nezimfutshane ezineminwe emifutshane
• Amabala amhlophe kwindawo enemibala yamehlo (amabala eBrushfield)

Ukukhula komzimba kuhlala kucotha kunesiqhelo. Uninzi lwabantwana abane-Down syndrome abaze bafikelele kubude obumndala babantu abadala.

Abantwana banako ukulibazisa ukukhula kwengqondo kunye nentlalo. Iingxaki eziqhelekileyo zinokubandakanya:

• Ukuziphatha okungxamisekileyo
• Ukugweba ngokungafanelekanga
• Ingqwalaselo emfutshane
• Ukucotha ukufunda

Njengokuba abantwana abane-Down syndrome bekhula kwaye besazi ukusikelwa umda kwabo, banokuziva benxunguphalo kunye nomsindo.

Uninzi lweemeko zonyango ezahlukeneyo zibonwa kubantu abane-Down syndrome, kubandakanya:

• Iziphene zokuzalwa ezibandakanya intliziyo, ezinje ngesiphene se-atrial septal okanye i-ventricular septal defect
• Isifo sengqondo esiyingozi sinokubonwa
• Iingxaki zamehlo, ezinje ngamehlo (uninzi lwabantwana abane-Down syndrome bafuna iiglasi)
• Ukugabha kwangoko nangamandla, okunokuba luphawu lokuvaleka kwamathumbu, okunje nge-esophageal atresia kunye ne-duodenal atresia
• Iingxaki zokuva, mhlawumbi zibangelwa kukosuleleka kwendlebe okuphindaphindiweyo
• Iingxaki ze-Hip kunye nomngcipheko wokususwa
• Ixesha elide (elingapheliyo) iingxaki zokuqunjelwa
• I-apnea yokulala (kuba umlomo, umqala, kunye nendlela yomoya inciphile kubantwana abane-Down syndrome)
• Amazinyo avela emva kwexesha eliqhelekileyo nakwindawo enokubangela iingxaki ekuhlafunweni
• Ukungasebenzi kwe-thyroid (hypothyroidism)

Ugqirha unokwenza isifo se-Down syndrome ekuzalweni ngokusekwe kwindlela umntwana abonakala ngayo. Ugqirha unokuva ukukrokra kwentliziyo xa umamele isifuba somntwana nge-stethoscope.

Uvavanyo lwegazi lunokwenziwa ukukhangela i-chromosome eyongezelelweyo kwaye uqinisekise isifo.

Olunye uvavanyo olunokwenziwa lunokubandakanya:

• I-Echocardiogram kunye ne-ECG ukujonga iziphene zentliziyo (zihlala zenziwa kwakamsinya emva kokuzalwa)
• X-ray esifubeni kunye phecana zesisu

Abantu abane-Down syndrome kufuneka bajongwe ngokusondeleyo kwiimeko ezithile zonyango. Kufuneka babe:

• Ukuvavanywa kwamehlo minyaka le ebusaneni
• Uvavanyo lokuva zonke iinyanga ezi-6 ukuya kwezi-12, kuxhomekeke kubudala
• Uvavanyo lwamazinyo rhoqo kwiinyanga ezi-6
• I-X-ray yomqolo ongaphezulu okanye wesibeleko phakathi kweminyaka emi-3 kunye neminyaka emi-5
• Iipap smears kunye novavanyo lwe-pelvic ukuqala ngexesha lokufikisa okanye nge-21 yobudala
• Uvavanyo lwe-thyroid rhoqo kwiinyanga ezili-12

Akukho lunyango oluthile lwe-Down syndrome. Ukuba unyango luyafuneka, luhlala luneengxaki zempilo ezinxulumene noko. Umzekelo, umntwana ozelwe enesisu esiswini unokufuna utyando olukhulu kanye emva kokuzalwa. Ezinye iziphene zentliziyo zisenokufuna utyando.

Xa uncancisa, umntwana kufuneka axhaswe kakuhle kwaye avuke ngokupheleleyo. Usana lunokuba nokuvuza okuthile ngenxa yokungalawulwa kakuhle kolwimi. Kodwa uninzi lweentsana ezine-Down syndrome lunokuncancisa ngempumelelo.

Ukutyeba kakhulu kunokuba yingxaki kubantwana abadala nakubantu abadala. Ukufumana umsebenzi omninzi kunye nokuthintela ukutya okunekhalori eziphezulu kubalulekile. Ngaphambi kokuqala kwemisebenzi yezemidlalo, kufuneka kuvavanywe intamo yomntwana kunye nesinqe.

Uqeqesho lokuziphatha lunokunceda abantu abane-Down syndrome kunye neentsapho zabo bajongane nokukhathazeka, umsindo kunye nokuziphatha okunyanzelekileyo okuhlala kwenzeka. Abazali kunye nabanonopheli kufuneka bafunde ukunceda umntu one-Down syndrome ukuba ajongane nokukhathazeka. Kwangelo xesha, kubalulekile ukukhuthaza inkululeko.

Amantombazana akwishumi elivisayo kunye nabasetyhini abane-Down syndrome bahlala bekwazi ukukhulelwa. Kukho umngcipheko okhulayo wokuxhatshazwa ngokwesondo kunye nezinye iintlobo zokuphathwa gadalala kwabesilisa nabasetyhini. Kubalulekile kwabo bane-Down syndrome ukuba:

• Fundiswa ngokukhulelwa kunye nokuthatha amanyathelo okhuseleko afanelekileyo
• Funda ukuzithethelela kwiimeko ezinzima
• Yiba kwindawo ekhuselekileyo

Ukuba umntu unesiphene sentliziyo okanye ezinye iingxaki zentliziyo, i-antibiotics inokufuna ukumiselwa ukuthintela usulelo lwentliziyo olubizwa ngokuba yi-endocarditis.

Imfundo eyodwa noqeqesho lwenziwa kwiindawo ezininzi kubantwana abanolibaziseko lokukhula kwengqondo. Unyango lwentetho lunokunceda ukuphucula izakhono zolwimi. Unyango lomzimba lunokufundisa ngezakhono zokuhamba. Unyango emsebenzini lunokunceda ekondleni nasekusebenzeni imisebenzi. Unonophelo lwempilo yengqondo lunokunceda bobabini abazali kunye nomntwana ukulawula iingxaki zemood okanye zokuziphatha. Abafundisi-ntsapho abakhethekileyo nabo bahlala befuneka.

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-Down syndrome:

• Amaziko oLawulo noThintelo lweZifo - www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• UMbutho weSizwe weSifo seDown Down - www.ndss.org
• I-National Down Syndrome Congress- www.ndsccenter.org
• Isalathiso seKhaya le-NIH yemfuzo- ghr.nlm.nih.gov/condition/down-syndrome

Nangona uninzi lwabantwana abane-Down syndrome benomda ngokwasemzimbeni nasengqondweni, banokuphila ubomi obuzimeleyo kunye nobunemveliso de babe badala.

Malunga nesiqingatha sabantwana abane-Down syndrome bazalwa benengxaki zentliziyo, kubandakanya isiphene se-atrial septal, i-ventricular septal defect, kunye ne-endocardial cushion defects. Iingxaki zentliziyo ezinzima zinokukhokelela ekufeni kwangethuba.

Abantu abane-Down syndrome banomngcipheko okhulayo weentlobo ezithile ze-leukemia, enokubangela nokusweleka kwangethuba.

Inqanaba lokukhubazeka kwengqondo liyahluka, kodwa ihlala ilinganisiwe. Abantu abadala abane-Down syndrome banomngcipheko okhulayo wesifo sengqondo esixhalabisayo.

Kuya kufuneka kuboniswane naye ngezempilo ukuze kubonwe ukuba ingaba umntwana ufuna imfundo noqeqesho olulodwa na. Kubalulekile ukuba umntwana ahlolwe rhoqo nogqirha.

Iingcali zicebisa ngokucebisa ngemfuza kubantu abanembali yosapho ye-Down syndrome abanqwenela ukuba nosana.

Umngcipheko womfazi wokuba nomntwana one-Down syndrome uyanda njengokuba ekhula. Umngcipheko uphezulu kakhulu phakathi kwabasetyhini abaneminyaka engama-35 nangaphezulu.

Abantu abatshatileyo abasele benomntwana one-Down syndrome banomngcipheko wokuba nomnye umntwana onale meko.

Uvavanyo olunje nge-nuchal translucency ultrasound, amniocentesis, okanye chorionic villus sampling zinokwenziwa kwimveku ngexesha leenyanga zokuqala zokukhulelwa ukujonga i-Down syndrome.

I-Trisomy 21

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UDriscoll DA, uSimpson JL, uHolzgreve W, u-Otano L. Ukuvavanywa kwemvelo kunye nokuxilongwa kwemfuza ngaphambi kokubeleka. Ku: Gabbe SG, Niebyl JR, Simpson JL, et al, ii-eds. I-Obstetrics: Ukukhulelwa okuqhelekileyo kunye neengxaki. Umhla wesi-7. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 10.

INussbaum RL, iMcInnes RR, uWillard HF. Isiseko se-chromosomal kunye ne-genomic yesifo: ukuphazamiseka kwee-autosomes kunye ne-chromosomes zesondo. Ku: Nussbaum RL, McInnes RR, Willard HF, ii-eds. Thompson kunye no-Thompson Genetics kwiyeza. Ngomhla we-8. IPhiladelphia, PA: Elsevier; 2016: isahluko 6.