I-Cri du Chat Syndrome: yintoni, izizathu kunye nonyango

Umxholo

• Iimpawu eziphambili
• Yintoni ebangela le syndrome
• Unyango lwenziwa njani
• Iingxaki zeCri du Chat
• Izinto ozilindile emhlabane

I-Cri du Chat syndrome, eyaziwa ngokuba yi-cat meow syndrome, sisifo esingaqhelekanga semfuza esibangelwa kukungaqheleki kwemfuza kwi-chromosome, i-chromosome 5 kwaye oko kunokukhokelela kulibaziseko kuphuhliso lwe-neuropsychomotor, ukulibaziseka kwengqondo kunye, kwiimeko ezininzi iingxaki ezinzulu, ukungasebenzi kakuhle yentliziyo nezintso.

Igama lesi sifo libangelwa luphawu apho ukukhala kosana olusandul 'ukuzalwa kufana nokutya kwekati, ngenxa yokungalunganga komqala ogqiba ukuguqula isandi sokukhala komntwana. Kodwa emva kweminyaka emi-2 ubudala, isandi sokuncipha siye sinyamalale.

Kuba ukungcola luphawu oluthile lweCri du Chat syndrome, ukuxilongwa kuhlala kwenziwa kwiiyure zokuqala zobomi, kwaye ke, usana lunokuthunyelwa kwangoko kunyango olufanelekileyo.

Iimpawu eziphambili

Olona phawu luphawu lwesi sifo luyakhala ngokufana nokuxakwa kwekati. Ukongeza, kukho eminye imiqondiso enokubonwa kanye emva kokuzalwa, njenge:

• Iminwe okanye iinzwane zidityanisiwe;
• Ubunzima bokuzalwa kunye nobudala;
• Umgca omnye entendeni yesandla;
• Ukulibaziseka kophuhliso;
• Isilevu esincinci;
• Buthathaka kwezihlunu;
• Ibhulorho ngeempumlo Low;
• Amehlo ahlukeneyo;
• Imicrocephaly.

Ukuchongwa kwesifo seCri Du Chat kwenziwa kwigumbi lokubeleka, kwiiyure nje emva kokuba umntwana ezelwe, ngokujonga le miqondiso ingentla. Kanye emva kokungqinisisa, abazali bayaziswa malunga nobunzima obunokubakho xa umntwana ekhula, njengobunzima bokufunda nokondla.

Aba bantwana banokuqala ukuhamba kamva xa beneminyaka emi-3 ubudala, bebonisa ukuhamba ngokungahambi kakuhle kwaye kubonakala ngathi abanamandla okanye ibhalansi. Ukongeza, ebuntwaneni bokuqala banokuba nokuziphatha njengokukhathazeka ngezinto ezithile, uxinzelelo kunye nobundlobongela, umzekelo.

Yintoni ebangela le syndrome

I-Cat meow syndrome ibangelwa lutshintsho kwi-chromosome 5, apho kukho ilahleko yeqhekeza le-chromosome. Ubunzima besifo bubangelwa bubungakanani bolu tshintsho, oko kukuthi, isiqwenga esilahlekileyo, kokukhona esi sifo siya kuba nzima.

Izizathu zokukhutshwa kwesi siqwenga azikaziwa, kodwa kuyaziwa ukuba ayisiyofuzo, oko kukuthi, olu tshintsho lwenzeka ngokungacwangciswanga kwaye aludluliswanga lusuka kubazali luye emntwaneni.

Unyango lwenziwa njani

Kuba lutshintsho kwimfuza kwi-chromosome, akukho lunyango kwesi sifo, njengoko umntwana sele ezelwe enale meko kwaye akunakwenzeka ukuba utshintshe imeko yemfuza emva kokuzalwa. Nangona kunjalo, unyango lwenziwa ukwandisa umgangatho wobomi kunye nokunciphisa iimpawu zesifo.

Umntwana ubekwe esweni ngoncedo lweetherapisti zonyango, i-physiotherapists kunye nabanyangi bokusebenza, okwenza ukuba ukuvela kokulungelelaniswa kweemoto, izakhono zokuqonda kunye nokuqonda, imisebenzi yokuphila kwansuku zonke kunye nobudlelwane phakathi kwabantu.

Kubalulekile ukuba unyango luqale ngokukhawuleza, njengoko ukuvuselela kwangoko kuvumela ukukhula okungcono, ukuziqhelanisa nokwamkelwa kwesifo ngumntu okwishumi elivisayo kunye nokuba mdala.

Iingxaki zeCri du Chat

Iingxaki zale syndrome zikhona ngokobunzima benguqu kwi-chromosome, kwaye kwezi meko abantwana banokubonakalisa iimpawu ezinje ngomqolo, intliziyo okanye amanye amalungu, ubuthathaka bemisipha kwiminyaka yokuqala yobomi kunye neengxaki zokuva nombono.

Nangona kunjalo, ezi ngxaki zinokuncitshiswa ngonyango kunye nokulandelelwa ukusuka kwiintsuku zokuqala zobomi.

Izinto ozilindile emhlabane

Xa unyango luqala kwiinyanga zokuqala zobomi kwaye abantwana bagqiba unyaka omnye, iminyaka yobomi ithathwa njengesiqhelo, kwaye umntu unokufikelela ebudaleni. Nangona kunjalo, kwiimeko ezinzima apho umntwana enezintso okanye iingxaki zentliziyo, kwaye xa unyango lunganelanga, ukufa kusenokwenzeka kunyaka wokuqala wobomi.