Iimpawu zeWilliam-Beuren Syndrome

Umxholo

• Iimpawu eziphambili
• Uxilongo lwenziwa njani
• Unjani unyango

Isigulo sikaWilliam-Beuren sisifo esinqabileyo semfuza kwaye ezona mpawu zazo zinobuhlobo kakhulu, intlalontle kunye nokuziphatha komntwana, nangona ibonisa intliziyo, ulungelelwaniso, ibhalansi, ukudodobala kwengqondo kunye neengxaki zengqondo.

Esi sifo sichaphazela ukuveliswa kwe-elastin, echaphazela ukutyeba kwemithambo yegazi, imiphunga, amathumbu kunye nolusu.

Abantwana abanale syndrome baqala ukuthetha malunga neenyanga ezili-18 ubudala, kodwa babonakalise ukufundela izicengcelezo kunye neengoma kwaye, ngokubanzi, ubuntununtunu bomculo kunye nenkumbulo elungileyo yokuva. Bahlala bebonisa uloyiko xa beva ukuqhwatywa, i-blender, inqwelomoya, njl.njl., Kuba baziva kakhulu kwisandi, imeko ebizwa ngokuba yi-hyperacusis.

Iimpawu eziphambili

Kule syndrome, ukususwa kweentlobo ezahlukeneyo zofuzo kunokwenzeka, kwaye ngenxa yoko iimpawu zomntu omnye zinokwahluka kakhulu kolomnye. Nangona kunjalo, phakathi kweempawu ezinokubakho:

• Ukudumba ujikeleze amehlo
• Incinci, impumlo eme nkqo
• Isilevu esincinci
• Ulusu olubuthathaka
• Iris eneenkwenkwezi kubantu abanamehlo aluhlaza
• Ubude obufutshane ekuzalweni kunye nokusilela malunga ne-1 ukuya kwi-2 cm ukuphakama ngonyaka
• Iinwele ezinekhelizi
• Imilebe yomzimba
• Ubumnandi bomculo, ukucula kunye nezixhobo zomculo
• Ukutya kunzima
• Iintlambo emathunjini
• Ukuphazamiseka kokulala
• Isifo sentliziyo
• Uxinzelelo lwegazi
• Izifo ezenzeka rhoqo kwindlebe
• Strabismus
• Amazinyo amancinci aqelelene kakhulu
• Ukuncuma rhoqo, ukufumaneka lula konxibelelwano
• Olunye ukhubazeko ngokwasengqondweni, ukusukela kophakathi ukuya kophakathi
• Ukusilela kwengqwalaselo kunye nokunyanzeliswa
• Kwiminyaka yobudala besikolo kukho ubunzima ekufundeni, ekuthetheni nakwimathematika,

Kuqhelekile ukuba abantu abanesi sifo babe neengxaki zempilo ezifana noxinzelelo lwegazi oluphezulu, i-otitis, usulelo lomchamo, ukusilela kwezintso, i-endocarditis, iingxaki zamazinyo, kunye ne-scoliosis kunye nokuqina kwamalungu, ngakumbi ngexesha lokufikisa.

Ukuphuhliswa kweemoto kuhamba kancinci, kuthatha ixesha ukuhamba, kwaye banobunzima obukhulu ekwenzeni imisebenzi efuna ukulungelelaniswa kwemoto, njengokucheba iphepha, ukuzoba, ukukhwela ibhayisekile okanye ukubopha izihlangu.

Xa sele umdala, izifo zengqondo ezinje ngoxinzelelo, iimpawu ezinyanzelekileyo zokunyanzelwa, i-phobias, uloyiko kunye noxinzelelo lwasemva kokubandezeleka kunokuvela.

Uxilongo lwenziwa njani

Ugqirha ufumanisa ukuba umntwana une-Williams-Beuren syndrome xa ejonga iimpawu zayo, eqinisekiswa ngovavanyo lwemfuza, oluhlobo lovavanyo lwegazi, olubizwa ngokuba yi-fluorescent in situ hybridization (FISH).

Uvavanyo olufana ne-ultrasound yezintso, ukuvavanya uxinzelelo lwegazi kunye nokuba ne-echocardiogram nako kunokuba luncedo. Ukongeza, amanqanaba aphezulu e-calcium egazini, uxinzelelo lwegazi oluphezulu, amalunga akhululekileyo kunye nobume beenkwenkwezi be-iris, ukuba iliso liluhlaza.

Ezinye izinto ezinokunceda ekuchongeni esi sifo kukuba umntwana okanye umntu omdala akathandi ukutshintsha umphezulu naphina apho akhoyo, abayithandi isanti, okanye izinyuko okanye imiphezulu engalinganiyo.

Unjani unyango

Isifo sikaWilliam-Beuren asinonyango kwaye yiyo loo nto kufuneka sikhatshwe ngugqirha wezifo zentliziyo, i-physiotherapist, i-Therapist Therapist, kunye nokufundisa kwisikolo esikhethekileyo kubalulekile ngenxa yokudodobala kwengqondo umntwana anayo. Ugqirha wabantwana unokuyalela uvavanyo lwegazi rhoqo ukuvavanya amanqanaba e-calcium kunye nevithamin D, zihlala ziphakanyisiwe.