Izici ze-Williams-Beuren Syndrome

-Delile

• Izici eziyinhloko
• Ukuxilongwa kwenziwa kanjani
• Injani impatho

I-Williams-Beuren syndrome iyisifo esingajwayelekile sezakhi zofuzo futhi izici ezisemqoka kuyindlela enobungane, yokuxhumana nabantu nokuxhumana kwengane, yize iveza inhliziyo, ukuxhumanisa, ukulinganisela, ukukhubazeka kwengqondo nezinkinga zengqondo.

Lesi sifo sithinta ukukhiqizwa kwe-elastin, sithonya ukuqina kwemithambo yegazi, amaphaphu, amathumbu nesikhumba.

Izingane ezinalesi sifo ziqala ukukhuluma cishe ezinyangeni eziyi-18 ubudala, kepha zikhombise ukukhululeka ekufundeni imilolotelo nezingoma futhi, ngokuvamile, zinokuzwela okukhulu kwezomculo nenkumbulo enhle yokuzwa. Imvamisa bakhombisa ukwesaba lapho bezwa ukushaya izandla, i-blender, indiza, njll., Ngoba bayazwela ukuzwakala, isimo esibizwa nge-hyperacusis.

Izici eziyinhloko

Kulesi sifo, kungenzeka ukususwa kwezakhi zofuzo, ngakho-ke izici zomuntu oyedwa zingahluka kakhulu kwezomunye. Kodwa-ke, phakathi kwezici ezingaba khona kungaba khona:

• Ukuvuvukala ngamehlo
• Incane, ikhala eliqondile
• Isilevu esincane
• Isikhumba esibucayi
• Izinkanyezi iris kubantu abanamehlo aluhlaza okwesibhakabhaka
• Ubude obufushane ngesikhathi sokuzalwa nokusilela okungaba ngu-1 kuye ku-2 cm ukuphakama ngonyaka
• Izinwele ezisontekile
• Izindebe ezinenyama
• Ubumnandi bomculo, ukucula kanye nezinsimbi zomculo
• Ukondla ubunzima
• Amajaqamba emathunjini
• Ukuphazamiseka kokulala
• Isifo senhliziyo esizalwa naso
• Umfutho wegazi ophakeme
• Ukutheleleka okuvamile kwendlebe
• I-Strabismus
• Amazinyo amancane aqhelelene kakhulu
• Ukumamatheka njalo, ukukhululeka kokuxhumana
• Ukukhubazeka okuthile kwengqondo, kusuka kokuphakathi kuya kokulingene
• Ukulahleka kokunakwa nokungasebenzi kahle
• Esikhathini sesikole kunenkinga yokufunda, ukukhuluma kanye nezibalo,

Kuvamile ukuthi abantu abanalesi sifo babe nezinkinga zempilo ezifana nomfutho wegazi ophakeme, i-otitis, ukutheleleka komchamo, ukwehluleka kwezinso, i-endocarditis, izinkinga zamazinyo, kanye ne-scoliosis kanye nokuqina kwamalunga, ikakhulukazi ngesikhathi sokuthomba.

Ukwakhiwa kwezimoto kuhamba kancane, kuthatha isikhathi ukuhamba, futhi banobunzima obukhulu ekwenzeni imisebenzi edinga ukuhlanganiswa kwezimoto, njengokugunda iphepha, ukudweba, ukugibela ibhayisikili noma ukubopha izicathulo zabo.

Lapho usumdala, kungavela izifo zengqondo ezinjengokudangala, izimpawu eziphoqelela ngokweqile, ama-phobias, ukwethuka nokucindezeleka kwangemva kwenhlekelele.

Ukuxilongwa kwenziwa kanjani

Udokotela uthola ukuthi ingane ine-Williams-Beuren syndrome lapho ibheka izici zayo, iqinisekiswa ngokuhlolwa kofuzo, okuluhlobo lokuhlolwa kwegazi, olubizwa nge-fluorescent in situ hybridization (FISH).

Ukuhlolwa okufana ne-ultrasound yezinso, ukuhlola umfutho wegazi nokuba ne-echocardiogram nakho kungasiza. Ngaphezu kwalokho, amazinga aphezulu e-calcium egazini, umfutho wegazi ophakeme, amalunga avulekile nokuma okunenkanyezi kwe-iris, uma iso liluhlaza okwesibhakabhaka.

Ezinye izici ezingasiza ekutholeni lesi sifo ukuthi ingane noma umuntu omdala akathandi ukushintsha indawo noma ngabe ikuphi, abathandi isihlabathi, noma izitebhisi noma izindawo ezingalingani.

Injani impatho

I-Williams-Beuren syndrome ayinalo ikhambi yingakho kudingekile ukuthi uhambisane nodokotela wenhliziyo, owe-physiotherapist, owelapha izinkulumo, kanye nokufundisa esikoleni esikhethekile kuyadingeka ngenxa yokubambezeleka kwengqondo ingane enakho. Udokotela wezingane angaphinde ahlele ukuhlolwa kwegazi kaningi ukuhlola amazinga e-calcium nevithamini D, okuvame ukuphakama.