Ubuncinane i-83% ye-autism eyabangelwa iigeni ezizuze ifa
Abaphandi baye bahlala bekholelwa ukuba i-genetics ibaluleke kakhulu kwi-autism, kodwa abaninzi banokuqiniseka ukuba ukwanda okukhulu kweengxaki ze-autism kwabangelwa yimicimbi yendalo. Uphando olutshanje lubonisa ukuba i-genetics ingaba noxanduva malunga neepesenti ezingama-90 zeziganeko ze-autism, kunye nemiba engqongileyo edlala indima encinci.
Abaphengululi be-Autism bathi ukuthini 'i-Genetics'?
Ngokutsho kweZiko leZiko lezeMpilo: "I-gene iyona yunithi yesisiseko yomzimba yokusebenza.
Iimvelaphi, ezenziwe nge-DNA, yenza njengemiyalelo yokwenza iamolekyu ezibizwa ngokuba ngama-protein. Kubantu, izakhi zofuzo ziyahluka ngobukhulu ukusuka kwii-DNA ezingamakhulu ambalwa kwiziseko ezingaphezu kwezigidi ezimbini. I-Human Genome Project iqikelele ukuba abantu banama-genes angama-20 000 kunye nama-25,000. "Iingqungquthela zomntu ziphantse zifana nomntu kumntu. Enyanisweni, kuphela iipesenti ezi-1 zeDNA yethu ichaza indlela omnye umntu ahluke ngayo kwelinye.
Izifo zeGenesis zinempembelelo enkulu kwiimeko zethu zomzimba nezengqondo. Kodwa ngelixa iizakhi zizuze kubazali bethu, akuyiyo yonke into eyahlukileyo yemfuza. Kungenxa yokuba utshintsho lwezofuzo (olubizwa ngokuba yiinguqulelo) lunokuthi lwenzeke kumntu omnye, kungekho nto enokuyenza kunye nelifa. Utshintsho luya kwenzeka ngokukhawuleza (ngaphandle kwesizathu esaziwayo) okanye ngenxa yesimo sokungcola kwendalo.
Xa abaphengululi be-autism bejonga i-genetics, banokuba bahlola enye yemibuzo eyahlukeneyo. Phakathi kwabo:
- Kuphi na umlinganiselo we-autism uzuze kubazali?
- Kuphi na umlinganiselo ukuguliswa kwe-autism kubangelwa utshintsho oluzenzekelayo kwiijethi ezingazuze ilifa?
- Ziziphi izakhi zofuzo okanye iiseti zezakhi zofuzo ezichonga ukuba umntu u-autistic?
- Ziziphi iinguqu zenguqu kwizityalo zomntu ngamnye eziza kuphakamisa i-autism?
- I-autism ihambelana njani neengxaki zokuzalwa zofuzo ezifana nesifo se-Fragile X?
- Ngaba iindidi ezahlukileyo ezijongene neentlobo ezahlukeneyo ze-autism?
- Ingaba kukho iimpembelelo zemo engqongileyo ebangela ukuba utshintsho lwezofuzo lukhokelela kwi-autism?
Yintoni Esiyaziyo Ngo-Autism ne-Genetics?
Ngaphandle kwemibalwa embalwa, abaphandi abazange bakwazi ukuphendula imibuzo malunga ne-autism kunye ne-genetics ngokuqinisekileyo. Asazi, umzekelo, naluphi udidi lweenguqu zofuzo olubangelwa yi-autism. Asazi ukuba iinguqu ezahlukeneyo zofuzo zikhokelela kwi-autism ephakamileyo okanye ephantsi yokusebenza. Asiyazi ukuba kunokwenzeka ukuba utshintshe amathuba okuba uzuze i-autism. Asiyazi ukuba unyango lofuzo lungaba nefuthe elihle kubantu abane-autism.
Apha ke, nantoni , nenye into esaziyo, ngokweNIH:
- I-ASD inomdla wokuba usebenze kwiintsapho, kodwa iprogram yefa ayidla ngokungaziwa. Abantu abaneentshintsho zemizimba ehambelana ne-ASD ngokuqhelekileyo banelungelo lokunyuka ingozi yokuphuhlisa imeko, kungekhona kwimeko ngokwayo.
- Utshintsho kwiijethi ezingaphezu kwe-1 000 zixelwe ukuba zidibene ne-ASD, kodwa inani elikhulu le mibutho alizange liqinisekiswe. Uninzi lwezinto eziphilayo zineempembelelo ezincinci kuphela, kwaye ukuhluka kweendiza ezininzi kunokudibanisa nezinto ezinobungozi bemvelo, ezifana nobudala bomzali, iingxaki zokuzalwa, kunye nezinye ezingabonakalwanga, ukucacisa umngcipheko womntu wokuphuhlisa le meko.
- Kwimiba engama-2 ukuya kwe-4 ekhulwini labantu abane-ASD, ukuguqulwa kwesiginjana okanye i-chromosome engafanelekanga kucingelwa ukuba yimbangela yeso simo, ngokuqhelekileyo njengento ye-syndromes ezibandakanya iimpawu kunye neempawu ezongezelelekileyo ezichaphazela iinxalenye ezahlukeneyo zomzimba.
- Ngokutsho kwiphando lwakutshanje, amaninzi ama-2500 ahlukeneyo angasetyenziswa kunye ne-autism. Inani elikhulu lafunyaniswa ngeteknoloji entsha kunye neendlela zokufunda i-autism iye yanda kunzima.
Genetics kunye neNgqongileyo
Akungabazeki ukuba izinto zokusingqongileyo zisebenzisana ne-genetics zenze iintlobo ezahlukeneyo ze-autism. Kodwa uphando olutshanje lwenza kucacise ukuba izinto zokusingqongileyo ziyiyo, ngokuqhelekileyo, zibuqili kwaye zinzima.
Ngokutsho kweZiko leSizwe lezeMpilo zezeMvelo, ukunyuka kwezilwanyana ezithile kunokunyusa umngcipheko we-autism , kodwa awaziwa ngokubangela i-autism. Ziquka:
- Ubudala beminyaka yobudala ngexesha lokukhulelwa
- Ukutshatyalaliswa kokubeleka kokungcoliswa komoya
- Ukukhuluphala komama okanye isifo sikashukela
- Ukuqhaqhaqhaqhaqha kakhulu kwaye ubunzima bokuzala obuphantsi
- Naluphi na ubunzima bokuzalwa obukhokelela kwixesha lokukhulelwa kwe-oksijeni yokubeletha kwengqondo yengane
- Ukutshatyalaliswa kokubeleka kwezilwanyana ezithile ezinambuzane
- Ukutshatyalaliswa kwangaphambi kokubeleka kuValproate okanye eThalidomide
- Ukungabi nesondlo sokubeleka
Ngayiphi na enye yezi ziphumo ezichaphazela i-genetics? Izimpendulo azikaziwa, nangona uphando luqhubeka. Siyazi ukuba akukho nanye kwezi zichasi "iresiphi" ye-autism; Abantwana abaninzi bazalwa ngabazali asebekhulile, okanye ngaphambi kwexesha, okanye kwiindawo ezingahlambulukanga ezingenayo i-autistic. Oku kuphakamisa ukuba abanye abantwana abasemngciphekweni we-autism bahlakulele ingxaki emva kokungcola kwendawo ethile.
Yintoni ebaluleke ngakumbi: i-Genetics okanye iNgqongileyo?
Ucwaningo lwama-2017 luhlolisise umbuzo wokuba i-genetic ifa okanye indawo yendalo yimbangela ebalulekileyo ye-autism. Ukugqithisa, ubungqina bubonisa imfuza. Enyanisweni, ngokutsho kwesinye isifundo:
Izifundo ziye zafumanisa ukuba i-autism i-aggregate disorder (ASD) idibeneyo kwiintsapho, kwaye iimbini zee-twin ziqikelela ukuba inani le-phenotype eguqukayo ngenxa yezinto eziphilayo (i-heritability) ibe ngama-90 ekhulwini.
Kwisifundo esadlulileyo, i-ASD ukuhlawulelwa kuqikelelwe ukuba yi-0.50, kunye nefuthe elijongene nokusingqongileyo lwentsapho liba ngu-0.04. Ukuchaza ukuba khona okanye ukungabikho kwe-ASD, isifundo sasebenzise isethi yedatha eyenziwe ukuba ithathe ingqalelo kwimiphumo yexesha-ukuya kumcimbi kwi-data, enokunciphisa ukulinganiswa kokuhlambulula.
Olunye uphando oluye lwalulawula iqela labantwana baseSweden ukusuka ngo-1982 ukuya ku-2006 kuquka amawele, abantakwabo kunye nabantwana babantakwabo bafumana ukuba "iziganeko ze-autism" ezizuzwe njengefa "zazingama-83 ekhulwini, kanti ingqiqo engabonakaliyo yendalo yalinganiselwa kuma-17 ekhulwini . "
Ngamanye amagama, ukuba ezi zifundo zichanekile, ubuninzi be-autism bazuze ilifa. Oku kufumeneyo kunempembelelo ebalulekileyo kwiintsapho ezinabantu abane-autistic abantu kwaye kubalulekile ukuba kutholakale iindlela zokuthintela okanye ukuphatha i-autism.
ILizwi
Uphando luthetha ntoni kubazali? Ngelixa lingaziboneleli ngolwazi oluninzi olwenzayo, lucacisa ukuba izinto zokusingqongileyo zidlala indima encinci kwi-autism. Oko kuthetha ukuba abazali akufanele baxhalabele ukuba ukhetho oluqhelekileyo lobomi okanye iimpawu zokuziphatha ezibangelwa yintlungu yomntwana. Kwaye oko kuthetha ukuba abazali banokukhululeka ngokomoya ukugxila, kungekhona kwithuba elide lokubeletha komntwana, kodwa kunoko kwixesha labo elizayo.
> Imithombo:
> Brooks, Megan. Imiba ye-Genetic ibangela ubuninzi beengozi ye-autism. Medscape. NgoSeptemba 27, 2017. https://www.medscape.com/viewarticle/886250
> Krishnan, A. et al, ukubikezelwa kweGenesome-wide and characterization function of the genetic of autism disorder disorder. I-Nature Neuroscience , 2016; INGXELO: 10.1038 / nn.4353 ISiko leSizwe lezeMpilo zezeMpilo. Autism. Iwebhu, 2017. https://www.niehs.nih.gov/health/topics/conditions/autism/index.cfm
> Sandin S, uLichtenstein P, Kuja-Halkola R, Hultman C, uLarsson H, Reichenberg A. Ukulungeleka kwe-autism disorder disorder. JAMA. 2017; 318 (12): 1182-1184. i-doi: 10.1001 / jama.2017.12141
> Iindaba zeSayensi. Iigciwane ze-Autism ezichongiweyo zisebenzisa indlela entsha. Agasti 1, 2016. https://www.sciencedaily.com/releases/2016/08/160801113827.htm
> Ilayibrari yeSizwe ka-US yamayeza. Autism. Iwebhu, 2017. https://ghr.nlm.nih.gov/condition/autism-spectrum-disorder#diagnosis
> Zayed, A.. Uqinisekisiwe: Ulungelo luyinto ebalulekileyo ye-Autism. I-Digest Health Digest. KwiWebhu. 2017. https://www.consumerhealthdigest.com/health-news/genetics-increase-autism-risk.html