Likarolo tsa Williams-Beuren Syndrome

Litaba

• Lintlha tse ka sehloohong
• Mokhoa oa ho hlahloba o etsoa joang
• Kalafo e joang

Williams-Beuren syndrome ke lefu le sa tloaelehang la liphatsa tsa lefutso 'me litšobotsi tsa lona tsa mantlha ke boits'oaro bo botle ba botsoalle, botsoalle le boits'oaro ba ngoana, leha e hlahisa pelo, khokahano, botsitso, ho holofala kelellong le mathata a psychomotor.

Lefu lena le ama tlhahiso ea elastin, e susumetsang ho thatafala ha methapo ea mali, matšoafo, mala le letlalo.

Bana ba nang le lefu lena ba qala ho bua ba le likhoeli tse ka bang 18, empa ba bonts'a boiketlo ho ithuteng lirafshoa le lipina 'me ka kakaretso ba na le kutloisiso e kholo ea' mino le mohopolo o motle oa ho utloa. Hangata li bonts'a tšabo ha li utloa ho opa liatla, blender, sefofane, jj. Hobane li na le kutlo e matla ho utloahala, boemo bo bitsoang hyperacusis.

Lintlha tse ka sehloohong

Lefu lena, ho na le mefuta e mengata ea liphatsa tsa lefutso e ka hlahang, ka hona litšobotsi tsa motho e mong li kanna tsa fapana haholo le tsa motho e mong. Leha ho le joalo, har'a litšobotsi tse ka bang teng ho ka ba teng:

• Ho ruruha ho potoloha mahlo
• Nko e nyane, e emeng
• Seledu se senyane
• Letlalo le boreleli
• Iris e nang le linaleli ho batho ba mahlo a maputsoa
• Bolelele bo khutšoane nakong ea tsoalo le khaello ea bolelele ba 1 ho 2 cm ka selemo
• Moriri o harelaneng
• Melomo ya nama
• Monate oa 'mino, ho bina le liletsa tsa' mino
• Bothata ba ho fepa
• Sefuba sa mala
• Likhathatso tsa boroko
• Lefu la pelo ea Congenital
• Matšoao a khatello ea kelello ea mali
• Matšoao a tloaelehileng a tsebe
• Strabismus
• Meno a manyane a arohane haholo
• Ho bososela khafetsa, bonolo ba puisano
• Bokooa bo bong ba kelello, ho tloha bobeng ho isa ho bo itekanetseng
• Khaello ea tlhokomelo le ho se tsotelle
• Lilemong tsa sekolo ho na le bothata ba ho bala, ho bua le lipalo,

Ho tloaelehile hore batho ba nang le lefu lena ba be le mathata a bophelo bo botle a kang khatello e phahameng ea mali, otitis, tšoaetso ea ho ntša metsi, ho hloleha ha liphio, endocarditis, mathata a meno, hammoho le scoliosis le konteraka ea manonyeletso, haholo nakong ea bohlankana.

Nts'etsopele ea likoloi e tsamaea butle, e nka nako ho tsamaea, 'me ba na le bothata bo boholo ba ho etsa mesebetsi e hlokang tšebelisano ea makoloi, joalo ka ho seha pampiri, ho taka, ho palama baesekele kapa ho tlama lieta tsa bona.

Ha o le motho e moholo, mafu a kelello a kang ho tepella maikutlong, matšoao a feteletseng a qobelloang, phobias, ho tšoha le khatello ea maikutlo e bakang khatello ea maikutlo.

Mokhoa oa ho hlahloba o etsoa joang

Ngaka e fumana hore ngoana o na le lefu la Williams-Beuren ha a sheba litšobotsi tsa lona, ​​a netefatsoa ka tlhahlobo ea liphatsa tsa lefutso, e leng mofuta oa tlhahlobo ea mali, e bitsoang fluorescent in situ hybridization (FISH).

Liteko tse kang ultrasound ea liphio, ho lekola khatello ea mali le ho ba le echocardiogram le tsona li ka thusa. Ntle le moo, likhalsiamo tse phahameng maling, khatello e phahameng ea mali, manonyello a hlephileng le sebopeho sa linaleli sa iris, haeba leihlo le leputsoa.

Lintho tse ling tse ka thusang ho fumana lefu lena ke hore ngoana kapa motho e moholo ha a rate ho fetola bokaholimo kae kapa kae moo a leng teng, ha ba rate lehlabathe, kapa litepisi kapa libaka tse sa lekanang.

Kalafo e joang

Williams-Beuren syndrome ha e na pheko ke ka hona ho hlokahalang ho felehetsoa ke ngaka ea pelo, physiotherapist, setsebi sa puo, le ho ruta sekolong se khethehileng ho hlokahala ka lebaka la ho holofala kelellong hoo ngoana a nang le hona. Ngaka ea bana le eona e ka laela liteko tsa mali khafetsa ho lekola calcium le vithamine D, tse atisang ho phahamisoa.