IKleefstra Syndrome yiyo isifo semfuza esibangelwa kukungaqheleki kwimfuzaNokuba iimeko zinqabile utshintsho olunokwenzeka. Esi sifo sinokuchaphazela amalungu amaninzi kunye namalungu omzimba, njenge-microcephaly, iimpawu zobuso, i-hypotonia, ukusilela kwengqondo okanye amanqaku e-autism, phakathi kwezinye iimeko ezininzi. Sisifo esinqabileyo esichaphazela abantwana abambalwa kakhulu emhlabeni, enyanisweni, iimeko azidluli kuma-200.
Namhlanje, uSeptemba 17, kubhiyozelwa uSuku lweHlabathi lweKleefstra Syndrome, isifo esinqabileyo kwaye mhlawumbi ngenxa yeso sizathu, saziwa kancinci. Yenza esi sifo sibonakale phucula umgangatho wobomi wabantu abaphethwe yiyo, yeyona njongo iphambili yokubhiyozela olu suku. Kuba uphando lwesi sifo sisitshixo kunyango lwesi sifo, esinganyangekiyo kunye nesifo esintsokothileyo sobomi.
Isifo seKleefstra
Umzimba womntu uqulethe ii-chromosomes ezingama-23, ezingama-22 zazo zizenzekelayo kunye nesibini seekromosomes zesini. Umzali ngamnye wenza igalelo kwi-chromosome evela kwi-autosomal yakhe kunye nesibini sesini, ukuze abantwana, fumana isiqingatha see-chromosomes kuyise size esinye isiqingatha sivela kunina. I-Kleefstra Syndrome ibangelwa kukungaqheleki kwenye yeekromosomes ezingama-46 eziqulathwe ngumzimba kwiiseli zazo.
Izinto ezimbini ezingaqhelekanga zinokwenzeka kwi-chromosome echaphazelekayo, amaxesha amaninzi inxenye yemathiriyeli yemfuza ilahlekile. Kwiimeko ezinqabileyo, i-chromosome inokutshintsha, nangona ingeyiyo eyona ixhaphakileyo. Ngapha koko, iKleefstra Syndrome ikwabizwa ngokuba yi "9q subtelomeric deletion syndrome" kuba i-chromosome inokususa (ukulahleka kwezinto zemvelo). Ubungqongqo besifo bunokwahluka kakhulu kwimeko nganye, kuba inxulunyaniswa nesixa semathiriyeli yemfuza okanye utshintsho olwenzeka kwi-chromosome.
Uninzi lweempawu rhoqo
Paula ukusuka kwibhlog yeHop Toys
I-Kleefstra Syndrome inokuvelisa inani leempawu ezahlukeneyo okanye iimpawu, nangona kunjalo ezinye zazo ziqhelekile, umzekelo:
- Ulibaziseko uphuhliso.
- Iimpawu zobuso ezibalaseleyo ezenza lukhuni ngokuhamba kwexesha, ezinje ngamashiya amakhulu, imilebe engqindilili engqindilili, ulwimi oluqaqambileyo, ukuxela kwangaphambili okanye ukukhubazeka emhlathini okanye kwi-microcephaly, phakathi kwabanye.
- Ubunzima bokufunda.
- Hypotonia okanye ithoni yemisipha ephantsi, ebangela ukuba umntwana abonakale eyekelela, ngaphandle kwamandla okuxhasa umzimba wakhe.
- Ukuhlaselwa.
- Isifo sentliziyo ukuzalwa
- Ukuphazamiseka kwindlela yokuziphatha.
- Ukungaqhelekanga kumalungu esini, ngakumbi kwimeko yabantwana.
- Ingxaki yokulala.
- Ukuphazamiseka kwamehlo, ngesiqhelo ngamehlo.
- Iimpawu eziqhelekileyo ze Ukuphazamiseka kwembonakalo yengqondo.
También ukho ezinye izinto ezinqabileyo, njenge:
- Ukutyeba kakhulu.
- Ukungaqheleki kwamazinyo.
- Iimpawu ezikhethekileyo ezandleni okanye ezinyaweni, ezinje ngeminwe emifutshane, iinyawo ezibekekileyo, phakathi kwabanye.
- Ukungaqheleki kwezintso.
- Uhlalutyo, Oku kuthetha ukuba akukho kuvulwa okuqhelekileyo kwe-anus.
Unyango lweKleefstra Syndrome
Akukho nonyango kwesi sifo, kuba siveliswa ngokutshintsha kwemfuza. Unyango lwabantwana abane-Kleefstra syndrome lubandakanya iqela elinamacandelo ahlukeneyo eliya kuxhomekeka kwiimpawu kunye neemfuno zomntwana ngamnye. Unyango luhlala luqulunqwa ziingcali ezikhethekileyo kwizigulana ezinesiphene ngokwengqondo, unyango lomsebenzi, ingcali yokuthetha, i-physiotherapist okanye unyango lokudityaniswa kwemizwa, phakathi kwabanye.
Ukongeza, kwimeko apho kukho iingxaki zezintso, isifo sentliziyo kunye nezinye iingxaki njengokuva, umntwana kuya kufuneka abekhona iphathwe ziingcali kwindawo nganye kwezi. Ke ngoko, unyango lunokwahluka kakhulu kwimeko nganye, kuba bonke abantwana abanazimpawu okanye iimpawu ezifanayo. Njengokuba umntwana ekhula, kuya kubonakala iimpawu ezintsha ekufuneka ziphathwe ngokufanelekileyo.
Nangona isigulana esine-Kleefstra Syndrome kuyakufuneka silandelwe, ayisosifo sibulalayo. Ngamanye amagama, isifo uqobo asibubeki emngciphekweni ubomi bomntwana, kodwa ezinye zeempawu zinokuba mandundu kakhulu kwezinye iimeko, njengoko kusenzeka kubantwana abanesifo sentliziyo.