Okungenani ama-83% we-autism abangelwa izakhi zofuzo ezizuze njengefa
Abacwaningi bebelokhu bakholelwa ukuthi izakhi zofuzo zidlala indima ebalulekile ku-autism, kodwa abaningi bakholelwa ukuthi ukwanda okukhulu kwezifo zokuxilonga nge-autism kubangelwe yizindaba zezemvelo. Ucwaningo lwakamuva lubonisa ukuthi izakhi zofuzo zingase zibe nesibopho samaphesenti angama-90 amacala we-autism, nezindaba zendawo ezidlala indima encane kakhulu.
Yini abacwaningi be-Autism abashoyo ngokuthi 'i-Genetics'?
Ngokusho kweNational Institutes of Health: "I-gene isisetshenziswa esiyisisekelo sokusebenza ngokomzimba.
I-Genesini, eyenziwe nge-DNA, yenza njengemiyalo yokwenza ama-molecule abizwa ngokuthi amaprotheni. Kubantu, izakhi zofuzo zihluka ngobukhulu kusuka ezingxenyeni ezimbalwa ze-DNA ezisisekelo ezingaphansi kwezigidi ezimbili. Uhlelo lwe-Human Genome Project lucatshangelwe ukuthi abantu banezinhlobo zomzimba eziphakathi kuka-20 000 no-25 000. "Izakhi zofuzo zomuntu zifana nomuntu ngamunye. Empeleni, amaphesenti angu-1 kuphela e-DNA ethu achaza indlela umuntu oyedwa ahluke ngayo komunye.
I-Geneseni ithinta kakhulu isimo sethu somzimba nesengqondo. Kodwa nakuba izakhi zofuzo zizuzwa kubazali bethu, akuzona zonke izinhlobo zokuhlukana kwezakhi zofuzo ezifanelekayo. Kungenxa yokuthi izinguquko zofuzo (ezibizwa ngokuthi izakhi zoguquko) zingase zenzeke kumuntu oyedwa, ezingenalo lutho ngefa. Izinguquko zingenzeka ngokuzenzekelayo (ngaphandle kwesizathu esaziwayo) noma ngenxa yokuchayeka kwemvelo.
Lapho abacwaningi be-autism bebuka izakhi zofuzo, kungenzeka ukuthi bahlola enye yemibuzo ehlukahlukene. Phakathi kwazo:
- Kuyizinga elingakanani i-autism elithola njengefa elivela kubazali?
- Kuyizinga elingakanani i-autism elibangelwa izinguquko ezizenzekelayo ezakhiweni ezingenalo ifa?
- Yiziphi izakhi ezithile zezakhi noma amaqoqo ezakhi zofuzo ezinquma ukuthi umuntu u-autistic?
- Yiziphi izinhlobo zezinguquko ezakhiweni zomzimba ngabanye ezizophakamisa i-autism?
- I-autism ihlobene kanjani nokuphazamiseka kwezakhi zofuzo ezifana nesifo se-Fragile X?
- Ingabe izakhi zofuzo ezihlukahlukene zinezinhlobo ezahlukene ze-autism?
- Zikhona yini impikiswano yemvelo eyenza izinguquko zofuzo eziholela ku-autism?
Yini Esingazi Ngayo I-Autism ne-Genetics?
Ngaphandle kwezimbalwa ezimbalwa, abacwaningi abakwazi ukuphendula imibuzo mayelana ne-autism kanye ne-genetics nganoma yikuphi ukuqiniseka. Asazi, isibonelo, ukuthi yikuphi ukuhlanganiswa kwezinguquko zofuzo okungenzeka kubangele i-autism. Asazi ukuthi izinguquko ezahlukene zofuzo ziholela ku-autism ephakeme noma ephansi yokusebenza. Asazi ukuthi kungenzeka yini ukushintsha amathuba okuzuza i-autism. Asazi ukuthi imithi yokwelapha ingaba nomthelela omuhle kubantu abane-autism.
Lapha, nokho, yilokho okunye esikwaziyo , ngokusho kwe-NIH:
- I-ASD inesifiso sokugijima emindenini, kodwa i-pattern yefa ngokuvamile ayingaziwa. Abantu abanezinguquko zofuzo ezihlotshaniswa ne-ASD ngokuvamile bazuze ingozi eyandayo yokuthuthukisa isimo, kunokuba isimo ngokwaso.
- Izinguquko ezingqungqutheleni ezingaphezu kuka-1 000 zibikwe ukuthi zihlotshaniswa ne-ASD, kodwa inani elikhulu lalezi zinhlangano aziqinisekisiwe. Iningi lezinhlobonhlobo zezakhi zofuzo linomphumela omncane kuphela, kanti ukuhlukahluka kwamagciwane amaningi kungahlanganisa nezimo ezingozini zemvelo, njengengane yobuzali, izinkinga zokuzalwa, nezinye izinto ezingazange zibonwe, ukucacisa ingozi yomuntu yokuthuthukisa lesi simo esiyinkimbinkimbi.
- Emaphesenti angaba ngu-2 kuya kwangu-4 abantu abane-ASD, ukushintshashintsha kwezinto eziphilayo ezingavamile noma ukungafani kahle kwe-chromosome kucatshangwa ukuthi kuyimbangela yalesi simo, kaningi njengesici se-syndromes ehlanganisa nezimpawu ezengeziwe nezimpawu ezithinta izingxenye ezihlukahlukene zomzimba.
- Ngokwesayensi yamuva, iningi lezakhi zofuzo ezihlukahlukene ezingu-2500 zingahlotshaniswa ne-autism. Leli nani elikhulu lafundwa ngobuchwepheshe obusha futhi kusho ukuthi ukutadisha i-autism sekuye kwaba nzima kakhulu.
I-Genetics ne-Environment
Akungabazeki ukuthi izimo zemvelo zithinta izakhi zofuzo zenza izinhlobo ezahlukene ze-autism. Kodwa izifundo zakamuva zenza kucace ukuthi izici eziphathelene nokusingqongileyo, ngokuvamile, zombili ezicashile futhi eziyinkimbinkimbi.
Ngokusho kweNational Institutes of Environmental Health Sciences, ukuchayeka kwemvelo ethile kungakhuphula ingozi ye-autism , kodwa aziwa ukuthi empeleni ibangela i-autism. Zihlanganisa:
- Ubudala bomzali obukhulile ngesikhathi sokukhulelwa
- Ukuvezwa kwangaphambi kokubeletha kokungcola komoya
- Ukukhuluphala komama noma isifo sikashukela
- Ukuqhathaniswa okuqine kakhulu nesisindo esincane kakhulu
- Noma yikuphi ukuhlupheka okubeletha okuholela ezinkathini zokunakekelwa kwe-oksijeni kokubeletha ukuya ebuchosheni bomntwana
- Ukuvezwa kwangaphambi kokubeletha kwezinye izibulala-zinambuzane
- Ukuvezwa kwangaphambi kokubeletha kuValproate noma eThalidomide
- Ukungabi nalutho lokubeletha ngaphambi kokubeletha
Kungenzeka kanjani ukuthi noma yikuphi kulezi zimpawu zithinta izakhi zofuzo? Izimpendulo azikaziwa, nakuba ucwaningo luqhubeka. Siyazi ukuthi akekho kulezi zindawo ezivezwayo "iresiphi" ye-autism; Izingane eziningi zizalwa ngabazali asebekhulile, noma zingakabiphi isikhathi, noma ezindaweni ezingcolisiwe ezingezona i-autistic. Lokhu kusikisela ukuthi ezinye izingane ezisezifo zofuzo ze-autism zahlakulela lesi sifo ngemva kokudalwa kwemvelo ethile.
Yini Okubaluleke Kakhulu: I-Genetics noma Environment?
Ucwaningo lwe-2017 luhlolisise umbuzo wokuthi ngabe izakhi zofuzo noma imvelo yizimbangela ezibaluleke kakhulu ze-autism. Ukwehluleka, ubufakazi bubonisa izakhi zofuzo. Eqinisweni, ngokusho kwesinye isifundo:
Ucwaningo luye lwabona ukuthi i-autism spectrum disorder (ASD) ehlanganiswa emindenini, kanti ama-twin ucwaningo alinganisa ukuthi inani le-phenotype elihlukile ngenxa yezifo zofuzo (heritability) libe ngamaphesenti angu-90.
Esifundweni esandulele, i-ASD heritability yayinganiselwa ku-0.50, futhi imithonya yemvelo yemvelo eyabelana ngayo ibe ngu-0.04. Ukuze uchaze ukutholakala noma ukungabikho kwe-ASD, lolu cwaningo lusetshenziswa isethi yedatha eyakhiwe ukucabangela imiphumela yesikhathi-kuya-mcimbi kudatha, okungenzeka ukuthi yehlise ukulinganisa okulinganayo.
Esinye isifundo esacacisa iqembu lezingane eSweden kusukela ngo-1982 kuya ku-2006 kubandakanya amawele, izingane zakubo, kanye nabantakwabo abathintekayo, bathola ukuthi "izibalo ze-autism" ezizuzwe njengefa "zazingamaphesenti angama-83, kanti ithonya elingavumelani nemvelo lalinganiselwa kumaphesenti angu-17 . "
Ngamanye amazwi, uma lezi zifundo zilungile, iningi le-autism lizuzwa njengefa. Lokhu kuthola impendulo ebalulekile emindenini eneziqu eziningi ze-autistic futhi ingabalulekile ekutholeni izindlela zokwelapha ezivame ukuvimbela noma ukuphatha i-autism.
Izwi elivela
Ucwaningo lusho ukuthini kubazali? Ngenkathi ingahlinzeki ngolwazi oluningi olwenzayo, lwenza kucace ukuthi izimo zemvelo zidlala indima encane ku-autism. Lokhu kusho ukuthi abazali akudingeki bakhathazeke ngokuthi ukukhetha okujwayelekile kokuphila noma ukuziphatha okubangelwa ukugula kwengane yabo. Futhi lokho kusho ukuthi abazali bangakwazi ukukhululeka ngokomzwelo ukugxila, hhayi ekufikeni kwengane yabo ngaphambi kokubeletha, kodwa kunesikhathi sabo esizayo.
> Imithombo:
> Brooks, Megan. Izakhi zofuzo zibangela ingozi enkulu ye-autism. I-Medscape. Ngo-September 27, 2017. https://www.medscape.com/viewarticle/886250
> Krishnan, A. et al, ukubikezelwa kweGenome-wide nokuhlukaniswa kokusebenza kwezakhi zofuzo ze-autism spectrum disorder. Imvelo Neuroscience , 2016; I-DOI: 10.1038 / nn.4353 Isikhungo seZwelonke seZempilo zezeMvelo. I-Autism. Iwebhu, 2017. https://www.niehs.nih.gov/health/topics/conditions/autism/index.cfm
> Sandin S, Lichtenstein P, Kuja-Halkola R, Hultman C, uLarsson H, Reichenberg A. Ukufaneleka kwe-autism spectrum disorder. I-JAMA. 2017; 318 (12): 1182-1184. i-doi: 10.1001 / jama.2017.12141
> Izindaba zeSayensi. Izakhi zofuzo ze-Autism ezikhonjiswe ngokusebenzisa indlela entsha. Agasti 1, 2016. https://www.sciencedaily.com/releases/2016/08/160801113827.htm
> I-Library Kazwelonke Kazwelonke Yezokwelapha. I-Autism. Iwebhu, 2017. https://ghr.nlm.nih.gov/condition/autism-spectrum-disorder#diagnosis
> Zayed, A.. Kuqinisekisiwe: Ubungcwele buyisisusa esikhulu se-Autism. I-Consumer Health Digest. Iwebhu. 2017. https://www.consumerhealthdigest.com/health-news/genetics-increase-autism-risk.html