I-Joubert syndrome yintsilelo yokuzalwa ngokwemvelo apho indawo yengqondo elawula ukulinganisela kunye nokulungelelaniswa kuphuhliswa. Kwenzeka kubini nababini nababhinqa, malunga neyodwa kwi-100,000 yokuzalwa. I-Joubert syndrome isoloko ivela kumntwana ongekho nentsapho yembali yengxaki, kodwa kwabanye abantwana, i-syndrome ibonakala ilifa.
Iimpawu
Iimpawu ze-Joubert syndrome zihlobene nokuphuhliswa kwengqondo kwendawo engqondweni ebizwa ngokuba yi-cerebellar vermis, elawula ukulinganisela kunye nokuxhatshazwa kwemisipha.
Iimpawu, ezinokuthi zihluke kwi-mild to the severe kuxhomekeke kwindlela ubuchopho obungaphantsi ngayo, bungabandakanya:
- Iiperidi zokuphefumla ngokukhawuleza (episodic hyperpnea), ezinokubonakala zinjenge-panting
- ukunyuka kwamehlo okwenyuka (nystagmus)
- iziganeko zobuso ezifana neentloko ze- foo (ptosis), umlomo ovulekileyo ngolwimi olukhukhulayo, iindlebe eziphantsi
- ukulibala kwengqondo
- ubunzima bokudibanisa ukunyuka kwemizimba yokuzithandela (ataxia)
Ezinye iziphoso ezinokuzalwa ezifana neminwe eyongezelelweyo kunye neenzwane (i-polydactyly), ukukhubazeka kwentliziyo, okanye umlomo womlenze okanye i-palate ikhona. Kwakhona kwenzeka.
Ukuxilongwa
Isibonakaliso esona saziwa kakhulu kwiintsana ezisandul 'ukuzalwa kunye ne-Joubert syndrome ngamaxesha okuphefumla ngokukhawuleza, oku kunokulandelwa ngokuyeka ukuphefumla (i-apnea) ukuya kwimizuzu enye. Nangona ezi zimpawu zingenzeka kwezinye iintlungu, azikho iingxaki zemiphunga kwi-Joubert syndrome, ekunceda ukuyiqonda njengesizathu sokuphefumula okungavamile.
Ukufundwa kwe-imagination magnetic resonance (MRI) iyakwazi ukujonga ingqondo engafanelekanga ekhoyo kwiJoubert syndrome kwaye iqinisekisa ukuxilongwa.
Unyango
Akukho nonyango ye-Joubert syndrome, ngoko unyango lujolise kwiimpawu. Iintsana ezinokuphefumula okungavamile zingaphefumula (i-apnea) iliso lokusetyenziswa ekhaya, ngakumbi ebusuku.
Ulwaphulo lomzimba, lomsebenzi, nolulwimi lunokuba luncedo kwabanye abantu. Abantu abaneentsilelo zentliziyo, imilomo yokucoca okanye i-palate, okanye ukuxinwa kungadinga unyango olungakumbi.
Imithombo:
> Merritt, uLinda. "Ukuqwalaselwa kweempawu zeklinikhi neempawu ze-Joubert syndrome." Ukuqhubela phambili ekunakekelweni kweNonatal 3 (2003): 178-188.
> "I-NINDS Joubert Syndrome Information Information." Ngxaki. 13 uFebruwari 2007. Umbutho weSizwe weeNational and Disorders and Stroke. http://www.ninds.nih.gov/disorders/joubert/joubert.htm.