Isifo sikaRubinstein-taybi: oonobangela, iimpawu kunye nonyango

Umxholo

• Esi sifo sivelisa utshintsho olwenzeka emzimbeni nasengqondweni kwiintsana.
• Yintoni iRubinstein-Taybi syndrome?
• Iimpawu ezinxulunyaniswe notshintsho lweatomical
• Ukukhubazeka kwengqondo kunye neengxaki zophuhliso
• Isifo semvelaphi yemfuza
• Unyango olusetyenzisiweyo

Esi sifo sivelisa utshintsho olwenzeka emzimbeni nasengqondweni kwiintsana.

Ngexesha lokukhula komntwana, iintlobo zethu zemfuza zisebenza ngendlela eyalela ukukhula kunye nokwakhiwa kwezakhiwo ezahlukeneyo kunye neenkqubo eziza kuqwalasela into entsha.

Kwiimeko ezininzi, olu phuculo lwenzeka ngendlela eqhelekileyo kulwazi lwemfuzo oluvela kubazali, kodwa ngamanye amaxesha utshintsho olwenzeka kwimfuza olubangela utshintsho kuphuhliso. Oku kuphakamisa ii-syndromes ezahlukeneyo, ezinje Isifo seRubinstein-Taybi, apho siza kubona iinkcukacha ezingezantsi.

Yintoni iRubinstein-Taybi syndrome?

Isifo seRubinstein-Taybi kuthathwa njengesifo esinqabileyo semvelaphi yemfuza oko kwenzeka malunga nelinye kwikhulu lamawaka lokuzalwa. Ibonakaliswa bubukho bokukhubazeka kwengqondo, ukuqina kwezithupha zezandla neenyawo, ukukhula okucothayo, isiqu esifutshane, i-microcephaly, kunye notshintsho lobuso kunye nolwakhiwo, iimpawu ezivavanywa ngezantsi.

Ngenxa yoko, esi sifo sibonisa zombini ukwakheka (ukungalunganga) kunye neempawu zengqondo. Masibone ukuba ziyintoni na kwaye bungakanani ubungqongqo babo.

Iimpawu ezinxulunyaniswe notshintsho lweatomical

Kwinqanaba le-morphology yobuso, ayiqhelekanga ukuyifumana Amehlo ahlukaniswe ngokubanzi okanye i-hypertelorism, iinkophe ezinde, inkalakahla ekhombemaxilla hypoplastic (ukunqongophala kwamathambo emihlathini ephezulu) kunye nezinye iingxaki. Ngokumalunga nobukhulu, njengoko besesitshilo ngaphambili, kuyinto eqhelekileyo ukuba zifutshane kakhulu, kunye nenqanaba elithile lokulibaziseka kwe-microcephaly kunye nokuvuthwa kwamathambo. Enye yezinto ezibonakalayo ngokulula nezimele esi sifo zibonakala ezandleni nasezinyaweni, zibanzi kunezithupha eziqhelekileyo kunye neephalanges ezimfutshane.

Malunga nekota yabantu abanesi sifo bathambekele ekuhluphekeni kwentliziyo yesiphene, ekufuneka ibekwe esweni ngononophelo olukhethekileyo njengoko inokubangela ukubhubha komntwana. Phantse isiqingatha sabo bachaphazelekayo baneengxaki zezintso, kwaye ezinye iingxaki kwinkqubo ye-genitourinary zixhaphakile (ezinje ngesibeleko esiphakathi kwamantombazana okanye ukungazuki kwelinye okanye amasende omabini kubafana).

Ukungaqheleki okuyingozi zifunyenwe kwindlela yokuphefumla, inkqubo yamathumbu, kunye namalungu anxulumene nesondlo akhokelela kwiingxaki zokondla kunye nokuphefumla. Usulelo luqhelekile. Iingxaki ezibonakalayo njenge strabismus okanye glaucoma ziqhelekile, kunye ne otitis. Abahlali benomdla wokutya kwiminyaka yokuqala kunye nokusetyenziswa kwemibhobho kunokufuneka, kodwa njengoko bekhula bathambekele ekuhluphekeni ngenxa yokutyeba kakhulu ebuntwaneni. Kwinqanaba le-neurological, ukuxhuzula ngamanye amaxesha kunokujongwa, kwaye banomngcipheko omkhulu wokubandezeleka kwimhlaza eyahlukeneyo.

Ukukhubazeka kwengqondo kunye neengxaki zophuhliso

Utshintsho oluveliswe sisifo sikaRubinstein-Taybi ikwachaphazela nenkqubo yovalo kunye nenkqubo yophuhliso. Ukukhula okumileyo kunye ne-microcephaly kuququzelela oku.

Abantu abanesi sifo zihlala zikhubazekile ngokwengqondo, ene-IQ phakathi kwama-30 nama-70. Eli nqanaba lokukhubazeka linokubavumela ukuba bafumane amandla okuthetha nokufunda, kodwa ngokubanzi abanako ukulandela imfundo yesiqhelo kwaye bafuna imfundo eyodwa.

Amanqanaba ohlukeneyo ophuhliso nawo bonisa ukulibaziseka okukhulu, ukuqala ukuhamba emva kwexesha kwaye ubonakalise izinto ezithile nakwinqanaba lokurhubuluza. Ngokuphathelele kwintetho, ezinye zazo azibuphuhlisi obu buchule (kwimeko leyo kufuneka zifundiswe intetho yezandla). Kulabo benzayo, isigama sihlala sinqunyelwe, kodwa sinokuvuselelwa kwaye siphuculwe ngemfundo.

Ukutshintsha kweemvakalelo ngesiquphe kunye nokuphazamiseka kokuziphatha kunokwenzeka, ngakumbi kubantu abadala.

Isifo semvelaphi yemfuza

Unobangela wale syndrome yimvelaphi yemvelaphi. Ngokukodwa, amatyala afunyenweyo aqhagamshelwe ikakhulu kubukho be ukucinywa okanye ukulahleka kwesiqwenga se-CREBBP yemfuza kwi-chromosome 16. Ngamanye amaxesha, utshintsho kwi-EP300 yemfuza lufunyenwe kwi-chromosome 22.

Kwiimeko ezininzi, esi sifo sibonakala manqaphanqapha, Oko kukuthi, nangona sinemvelaphi yemfuza, ayisosifo sizuze ilifa, kodwa endaweni yoko ukuvela kwemfuza kuvela ngexesha lokukhula kombungu. Nangona kunjalo, Kwaye kuye kwafunyanwa amatyala elifa, ngendlela ebalaseleyo ye-autosomal.

Unyango olusetyenzisiweyo

Isifo seRubinstein-Taybi sisifo semfuza esinganyangekiyo. Unyango lujolise ekunciphiseni iimpawu, ukulungisa ukungaqheleki kwe-anatomical ngoqhaqho, kunye nokwenza ngcono amandla abo ngokwembono yeendlela ezahlukeneyo.

Kwinqanaba lotyando, kunokwenzeka ukulungisa intliziyo, ioyile kunye nesandla kunye neenyawo ukukhubazeka. Ukuvuselelwa kunye nokunyanga komzimba, kunye nonyango lokuthetha kunye nonyango olwahlukeneyo kunye neendlela ezinokuxhasa ukufunyanwa kunye nokwenza ngcono izakhono zeemoto nolwimi.

Okokugqibela, inkxaso yengqondo kunye nokufumana izakhono ezisisiseko kubomi bemihla ngemihla kubalulekile kwiimeko ezininzi. Kuyimfuneko ukuba usebenze kunye neentsapho ukubanika inkxaso kunye nesikhokelo.

Ukulindelwa kobomi kwabo bachaphazelekayo sesi sifo kunokuba yinto eqhelekileyo njengoko Logama iingxaki ezifumaneke kutshintsho lwe-anatomiki, ngakumbi ezentliziyo, zigcinwa ziphantsi kolawulo.