Yintoni i-Weaver's syndrome kunye nendlela yokuyinyanga

Umxholo

• Iimpawu eziphambili
• Yintoni ebangela isifo
• Unyango lwenziwa njani

I-Weaver's syndrome yimeko enqabileyo yemfuza apho umntwana akhula ngokukhawuleza kakhulu ngexesha lobuntwana, kodwa ulibaziseko ekukhuleni kwengqondo, ukongeza ekubeni neempawu zobuso, ezinjengebunzi elikhulu namehlo abanzi kakhulu, umzekelo.

Ngamanye amaxesha, abanye abantwana banokuba nokukhubazeka ngokudibeneyo kunye nomqolo, kunye nezihlunu ezibuthathaka kunye nolusu lwe-flabby.

Akukho lunyango lwe-Weaver's syndrome, nangona kunjalo, ukulandelelwa ngugqirha wabantwana kwaye unyango olulungelelaniswe neempawu lunokunceda ukuphucula umgangatho wobomi bomntwana nabazali.

Iimpawu eziphambili

Olunye lweempawu eziphambili ze-Weaver's syndrome kukuba ikhula ngokukhawuleza kunesiqhelo, yiyo loo nto ubunzima kunye nokuphakama phantse kuhlala kuneepesenti eziphezulu kakhulu.

Nangona kunjalo ezinye iimpawu kunye neempawu zibandakanya:

• Amandla amancinci emisipha;
• Ingqondo ebaxekileyo;
• Ukulibaziseka kuphuhliso lweentshukumo zokuzithandela, ezinje ngokubamba into;
• Phantsi, uyakhala;
• Amehlo ahlukane;
• Ulusu olugqithisileyo kwikona yamehlo;
• Intamo ethe tyaba;
• Ibunzi elibanzi;
• Iindlebe ezinkulu kakhulu;
• Ukukhubazeka kweenyawo;
• Iminwe ivaliwe rhoqo.

Ezinye zeempawu zinokuchongwa kwakamsinya emva kokuzalwa, ngelixa ezinye zichongwa kwiinyanga zokuqala zobomi ngexesha lokubonisana nogqirha wabantwana, umzekelo. Ke, kukho iimeko apho isifo sichongwa kuphela kwiinyanga ezimbalwa emva kokuzalwa.

Ukongeza, uhlobo kunye nokuqina kweempawu zinokwahluka ngokwenqanaba lesifo kwaye, ke, kwezinye iimeko kunokungaqwalaselwa.

Yintoni ebangela isifo

Isizathu esithile sokubonakala kwesifo sika-Weaver asikaziwa, nangona kunjalo, kunokwenzeka ukuba kunokwenzeka ngenxa yokutshintsha kwe-EZH2 gene, enoxanduva lokwenza ezinye zeekopi ze-DNA.

Ke, ukuxilongwa kwesifo kunokuhlala kusenziwa ngovavanyo lwemfuzo, ukongeza ekuqwalaseleni iimpawu.

Kukho nokukrokrela ukuba esi sifo singadlula sisuka kumama siye ebantwaneni, ke kuyacetyiswa ukuba kwenziwe ingcebiso ngemfuzo ukuba kukho nasiphi na isifo kusapho.

Unyango lwenziwa njani

Akukho lonyango oluthile lwe-Weaver's syndrome, nangona kunjalo, iindlela ezininzi zinokusetyenziswa ngokweempawu kunye neempawu zomntwana ngamnye. Enye yeentlobo zonyango ezisetyenzisiweyo yipyotherapyotherapy ukulungisa ukukhubazeka ezinyaweni, umzekelo.

Abantwana abanesi sifo nabo babonakala besemngciphekweni omkhulu wokuba nomhlaza, ngakumbi i-neuroblastoma, kwaye ke kuyacetyiswa ukuba undwendwele rhoqo ugqirha wabantwana ukuvavanya ukuba ngaba zikhona na iimpawu, njengokulahleka kwesidlo okanye ukunikezela, okunokubonisa Ithumba lobukho, ukuqala unyango ngokukhawuleza. Funda ngakumbi malunga ne-neuroblastoma.