I-tuberous sclerosis (TSC) yisifo esingavamile sezokwelapha. Ngokuvamile akukhulunywa ngokuhlobene ne-autism, kodwa eqinisweni, abantu abaningi abane-TSC bangatholakala ukuthi bane-autism spectrum disorder. Ngokusho kwe-NIH:
I-tuberous sclerosis (TSC) yisifo esingajwayelekile esidalwa yi-genetic esibangela izicubu ezinobuthi ukuba zikhule ebuchosheni nakwezinye izitho ezibalulekile njengezinso, inhliziyo, amehlo, amaphaphu nesikhumba. Ngokuvamile kuthinta isimiso sezinzwa zomphakathi. Ngaphandle kwezicubu ezinobuthi ezivame ukuqhutshwa ku-TSC, ezinye izimpawu ezivamile zihlanganisa ukugwinya, ukuphuza kwengqondo, izinkinga zokuziphatha kanye nokukhubazeka kesikhumba.
Ukuxhumana phakathi kwe-TSC ne-Autism
Cishe u-50% wabo bonke abantu abathintekayo abane-TSC nabo bangaxilongwa nge-autism. Abantu abaningi abangaba ngu-14% abane-autism spectrum disorders NOKUBHALA kokugula kungase kutholakale futhi nge-TSC. Abacwaningi abaqiniseki ngokuphelele ukuthi kungani i-autism ne-TSC ibonakala ixhunyiwe, kodwa ngokusho kwe-TC Alliance, ukutholakala kwamuva kuphakamisa ukuthi ku-TC:
... kukhona okungajwayelekile ngendlela izingxenye ezahlukene zobuchopho zixhuma komunye nomunye, hhayi kuphela kwi-lobes yesikhashana kodwa nakwezinye izingxenye eziningi zobuchopho. Lokhu kuxhumano okungavamile, okwenzeka ngaphandle kwezilimo eziyizigaxa, kuhlotshaniswa ne-ASD ezinganeni nakubantu abadala abane-TSC. Ngaphezu kwalokho, ucwaningo oluningi luye lwabonisa ukuthi ukugubha futhi, ikakhulukazi, ukuqala kokuqala kokugubha, kuhlobene nokuthuthukiswa okulibalekile kanye ne-ASD. Ngakho-ke, cishe kuyinhlanganisela yezici eziholela ithuba eliphakeme kakhulu le-ASD.
Ngisho nalolu lwazi olusha, noma kunjalo, alucaci ukuthi ukuqubuka kubangelwa yini i-autism - noma ukuthi ukuwa kwezimpawu kuyizibonakaliso ezingavamile ezibangelwa i-autism.
Ukuqaphela nokwazisa i-TSC
Kungenzeka ukuthi uzuze i-TSC kumzali. Nokho, amacala amaningi, ngenxa yokuguquka kwezakhi zofuzo. Okokuthi, izakhi zofuzo zomntwana ziyashintsha nakuba noma umzali engekho i-TSC noma isakhi sofuzo. Uma i-TSC izuzwa njengefa, ngokuvamile ivela kumzali oyedwa kuphela. Uma umzali ene-TSC, ingane ngayinye inethuba elingamaphesenti angu-50 lokuthuthukisa isifo.
Izingane ezizuze i-TSC kungenzeka zingenayo izimpawu ezifanayo njengomzali wazo futhi zingaba nesimo esibi noma esibi kakhulu sosizi.
Ezimweni eziningi, inkomba yokuqala yokuqaphela i-TSC iwukutholakala kokuqothulwa noma ukuphuthuma ukuthuthukiswa. Kwamanye amacala, isibonakaliso sokuqala singase sibe amabala amhlophe esikhumbeni. Ukuze uhlolisise i-TSC, odokotela basebenzisa i-CT noma i-MRI izilinganiso zobuchopho, kanye ne-ultrasound yenhliziyo, isibindi nezinso.
Uma ingane isitholwe ukuthi i-TSC, kubalulekile ukuqaphela ukuthi kungenzeka ukuthi uzophinde ahlakulele i-autism. Nakuba izimpawu zombili izifo zenzeke, azifani - futhi ukwelashwa kokuqala kwe-autism kungaholela emiphumeleni emihle kakhulu.
Imithombo:
> "Iphepha le-Tuberous Sclerosis Factory," i-NINDS. I-NIH Publication No. 07-1846
> Ukuxosha A, uMalusi C. Ukufunda Okuvameko Kwe-Autism ku-Tuberous Sclerosis. J Autism Dev Disord. 1993 Jun; 23 (2): 323-39.
> Smalley SL. I-Autism ne-Tuberous Sclerosis. J Autism Dev Disord. 1998 Oct; 28 (5): 407-14.