Waa maxay sirta hidde-sidaha ka dambeeya sababta dadka qaar uu ugu dhaco xanuunka Autism

Waxaa la aaminsan yahay in arrimo hidde-sideed (genetic factors) ay door weyn ka ciyaaraan horumarka xanuunka autism-ka, balse muddo tobannaan sano ah way adkayd in si sax ah loo ogaado sababahaas. Haddase, saynisyahanno ayaa bilaabay inay ogaadaan tilmaamo ku saabsan waxyaabaha keenna.

Ilaa iyo 1970-kii, fikirka ugu badan ee ka jiray xarumaha cilminafsiga wuxuu ahaa in autism-ka uu ka dhasho liidashada daryeelka waalidnimo.

1940-tameeyadii, dhakhtar cilminafsiyeed oo u dhashay Austaria laguna magacaabo Leo Kanner ayaa soo bandhigay aragti muran dhalisay oo lagu magacaabo "hooyada qabow" (refrigerator mother). Waxa uu ku dooday in autism-ku uu ka dhasho dhaawac xagga maskaxda ah oo ilmaha ku dhaca carruurnimada hore, sababtuna tahay hooyooyin "qabow" ah oo aan naxariis lahayn kuna kacay diidmo iyo ka fogaansho ilmahooda. – waa aragti tani ay tahay in qabowga shucuureed ee hooyada lala xidhiidhiyo jiradan.

Daniel Geschwind, oo ah borofasoor kadhiga Jaamacadda California, Los Angeles, cilmiga neerfaha iyo hidde-sidayaasha ayaa sheegay in fikirkaas hadda si sax ah loogu aqoonsaday inuu yahay mid waxyeello leh oo gebi ahaanba khaldan. Si kastaba ha ahaatee, wuxuu qaadatay ku dhowaad 30 sano si loo buriyo aragtidii Kanner.

Qodobbada hidda-socodka ayaa la rumeysan yahay inay door weyn ka ciyaaraan horumarinta autism-ka, laakiin muddo tobanaan sano ah arrimahan way adkeyd in la tilmaamo. Hadda, saynisyahannadu waxay bilaabeen inay daaha ka qaadaan tilmaamo.

Sawir aad u sax ah oo cad ma soo bixin illaa 1977-dii, markii laba dhakhtar oo cilmi nafsi ah ay sameeyeen daraasad horudhac ah oo muujinaysa in autismku uu inta badan ku dhex jiro mataanahaa isku mid ka ah.

Daraasadda 1977 waxay ahayd markii ugu horreysay ee la ogaado arrin hidde ah oo autism ah. Tan iyo markaas, cilmi-baadhistu waxay muujisay in marka mid mataanaha kamid ah uu qabo autism, mataanka kale 90 boqolkiiba ay u badan tahay in uu qabo xaaladda. Dhanka kale, mataanaha aan isku jinsiga ah hase yeeshee aan isku midka ahayn waxay leeyihiin 34 boqolkiiba fursad ay ku qaadaan cudurka autism.

Heerarkani aad bay uga sarreeyaan heerka dhacdooyinka caadiga ah ee dadweynaha guud, kaas oo qiyaastii ah 2.8 boqolkiiba.

Hadda waxaa si weyn loo aqbalay in ay jirto qayb xooggan oo hidde-sidaha ah oo autism-ka ah, laakiin fahamka hidde-sideyaasha ku xiran iyo sida arrimaha kale u saameeyaan muujinta hidde-sidayaashan ayaa weli baadhitaan lagu hayaa

Waxyaabo yaroo kala duwan

Xitaa kadib daraasaddii mataanaha ee la sameeyay 1977, waxaa qaadatay tobannaan sano oo kale si si buuxda loo fahmo sida xanuunka autism-ka iyo hidde-sideyaasha bini'aadamka ay isula falgalaan.

Dadka kala duwan, farqiga hidde-side (genetic variation) ee u dhexeeya waa qiyaastii 0.1%. Taasoo micnaheedu yahay in hal xaraf ama labo lamaane oo salka u ah hidde-sideyaasha dhiigga ee DNA-da ay ku kala duwanaan karaan qiyaastii hal meel 1,000 meeloodba mar.

"Mararka qaar farqiyadaas wax saamayn ah ma yeeshaan. Mararka qaar saamayntoodu way yar tahay, halka mararka qaarna ay aad u xoogan tahay," ayuu yiri Thomas Bourgeron, oo ah borofasoor ku takhasusay cilmiga neerfaha (neuroscience) kana tirsan Machadka Pasteur ee Paris.

Farqiyo aad u xooggan oo hidde-side ah ayaa lagu arkay ilaa 20% kiisaska autism-ka, halkaas oo hal-isbeddel (mutation) oo ku dhaca hal hidde-side (gene) uu sabab u yahay isbeddello muhiim ah oo ku yimaada horumarka neerfaha ilmaha.

Doorka isbeddelladaas hal- hidde-side ah iyo sida ay u dhacaan ayaa ka mid ah meelaha cilmi-baadhista autism-ka si weyn diiradda loo saaro, sababtuna tahay, sida uu Bourgeron sharxayo, in isbeddelladaas badankood ay keenaan naafonimo darran oo si weyn u xaddidaysa nolosha qofka.

Sawir aan caddeyn

Nus qarnigii la soo dhaafay, daraasado hidde-sideed ayaa muujiyay in kala duwanaanshaha neerfaha (neurodiversity) ee dadka intooda badan ee qaba autism uu ka dhasho isku-darka saameynta boqolaal ama xitaa kumannaan hidde-side oo caadi ah, kuwaas oo laga dhaxlo labada waalid.

Hidde-sideyaashan ayaa laga helaa dadka caafimaadka qaba ee leh horumar maskaxeed oo kala duwan, waxaana saameynta uu mid kasta leeyahay xagga horumarka maskaxdu ay aad u yar tahay. Laakiin marka la isu geeyo, waxay si weyn u saameeyaan qaabka iyo dhismaha maskaxda.

Waxaa caadi ah in mid ama labadaba waalid ee sida hidde-sideyaashan u gudbiya ilmahooda ay muujiyaan sifooyin la xiriira autism, sida:

- jecel nidaamka iyo kala dambeynta,

- ku adag garashada shucuurta

- iyo si xad dhaaf ah u fahmidda qaab-dhismeedka ama isdabajooga arrimaha [soo noqnoqda.

Laakiin, ayuu yidhi Bourgeron, si ka duwan ilmahooda, sifooyinkaas uma muuqdaan si aad u qoto dheer oo gaaraysa heer cudur oo lagu ogaado autism.

Labaatankii sano ee la soo dhaafay, cilmi-baadhayaashu waxay horumariyeen qaabab cusub oo lagu garto farqiyadaas yaryar ee hidde-sideyaasha ah.

Bilowgii qarnigan, Simon Baron-Cohen, oo ah borofasoor cilminafsiga iyo xanuunada dhimirka ka ah Jaamacadda Cambridge, iyo asxaabtiisa ayaa curiyay tijaabo la yiraahdo "maskaxda ka akhri indhaha" (reading the mind through the eyes).

Tijaabadani waxay qiimeynaysaa awoodda qofku u leeyahay inuu ka garto shucuurta sida farxad, raaxo, xanaaq ama caajis, sawir muujinaya indhaha oo keliya.

Fikradda tijaabadu waxay tahay in natiijo hooseysa oo laga helo tijaabadaasi ay muujin karto fursad sare oo ah in qofku leeyahay autism.

"Dadka qaba autism [Maskax ragaadka] waxay si ka duwan dadka caadiga ah u eegaan wejiyada," ayuu yidhi Bourgeron. "Waxay u muuqdaan inay xog badan ka helaan afka marka ay qof eegayaan, halka qofka caadiga ah uu xog badan ka helo indhaha."

Dhawaan, iyagoo la kaashanaya shirkadda tijaabada dhiiggaga DNA-da ee 23andMe, taasoo ogolaatay in tijaabada "indhaha laga akhriyo shucuurta" lagu daabaco website-keeda, Bourgeron iyo Baron-Cohen waxay awoodeen inay ururiyaan xog ku saabsan awoodda in ka badan 88,000 oo qof ay u leeyihiin akhrinta shucuurta indhaha laga garto, ayna isbarbardhigaan xogtaas iyo xogtooda hidde-sideed.

Xogtaas waxaa laga dhex helay kooxo badan oo hidde-sideyaal ah oo lala xidhiidhiyay dhibaatooyin ku saabsan garashada shucuurta dadka kale, kuwaas oo intooda badan la rumeysan yahay inay ku badan yihiin dadka qaba autism.

Daraasado kale oo cilmiyeed ayaa sidoo kale muujiyay in hidde-sideyaasha caadiga ah ee lala xidhiidhiyo autism-ka ay si taban ula xidhiidhaan naxariista iyo dhexgalka bulshada, laakiin si togan ay ugu xidhan yihiin xirfadda falanqaynta nidaamyada, sida dedaallada lagu fahmo xeerar, hab-raacyo iyo qaabab isdaba-yaal ah.

Waxaa yaab leh in hidde-sideyaashan sidoo kale si togan loola xidhiidhiiyo heer waxbarasho oo sare, iyo karti sare oo dhinacyada:

- aragti meel fog (spatial intelligence),

- xisaabta,

- ama hal-abuurka farshaxanka.

"Tani waxay sharraxi kartaa sababta hidde-sideyaashan ay weli ugu sii jiraan dadka illaa maanta, kuwaasoo dib ugu laabanaya awoowayaal aad u fog taariikhda bini'aadamka," ayuu yidhi Geschwind.

Geschwind iyo Baron-Cohen waxay haatan ka shaqeynayaan mashruuc lagu fahmayo sida qaar ka mid ah hidde-sideyaasha caadiga ah ee lala xidhiidhiyo autism-ka ay u sharraxi karaan sababta autism-ka uu ragga ugu badan yahay, iyo sababta haweenka qaba autism loogu tuhmo inay si fiican u awoodaan qarinta astaamahooda duwanaanshaha neerfaha marka loo eego ragga qaba xanuunka.

"Waxay u badan tahay in kala duwanaanshaha horumarka iyo shaqada maskaxda ee u dhexeeya ragga iyo dumarka ay ragga ka dhigto kuwo u nugul autism -ka, halka dumarkana ay ka helaan nooc ka mid ah difaac dabiici ah oo ka dhan ah hidde-sideyaasha autism-ka — laakiin weli si buuxda arrintaas uma fahmin," ayuu yidhi Geschwind.

Si kastaba, khubaro qaarkood waxay aaminsan yihiin in autism-ku uu dumarka ku badan karo intii hore loo malaynayay ka badan, balse waaya-aragnimadooda aan loo fiirsan

Geschwind wuxuu aaminsan yahay in fahamka kala duwanaanshaha jinsiga ee autism-ka uu noqon karo dariiq lagu ogaan karo waxyaabo difaac u noqon kara dadka, kuwaas oo mustaqbalka loo adeegsan karo daaweynta. Hase yeeshee, fikraddan lafteedu weli way muran badan tahay, waxayna astaan u tahay mid ka mid ah khilaafaadka ugu waaweyn ee ka dhex jira cilmi-baarista autism-ka.

Inkastoo cilmi-baadhayaal qaar ay raadinayaan daawo lagu dabiibo autism-ka, haddana cilmi-baarayaal kale iyo qaar ka mid ah dadka qaba autism laftooda waxay aaminsan yihiin in autism-ku uusan ahayn cudur u baahan in la daweeyo, balse uu yahay aqoonsi iyo waayo-aragnimo la wadaago oo u gaar ah dadka qaba.

"Autism-ku ma aha arrin dabiici ah (bayooloji ahaan) oo u baahan baadhitaan si loogu helo natiijo sax ah ama go'aan cudureed," ayay tidhi Sue Fletcher-Watson, oo borofasoor ka ah Jaamacadda Edinburgh.

"Autism-ku ma aha sida kansarka, kaas oo dadku wada ogyihiin inuu xun yahay oo ay rabaan in la daweeyo — mana noqon doono weligeed, sida aan anigu aaminsanahay," ayay raacisay.

Fletcher-Watson waxay aaminsan tahay in dad badan oo qaba autism, gaar ahaan, ay ka baqayaan in cilmi-baadhista hidde-sideyaasha autism-ka ay mustaqbalka keeni karto tijaabooyinka uurka lagu ogaado autism, taas oo khatar ku ah jiritaanka dadka qaba xaaladdan.

Sanadkii 2005, qof u dhaqdhaqaaqa xuquuqda dadka qaba autism ayaa sameeyay "Saacadda Xasuuqa Autism", taas oo muujinaysay in haddii tijaabo noocaas ah la helo, ay noqonayso sii wadidda isku daygii taariikhiga ahaa ee lagu dabar-gooynayay dadka laga tirada badan yahay. Labaatan sano kadib, walaacyadaas wali way taagan yihiin.

"Guud ahaan, cilmi-baarayaasha hidde-sideyaasha kuma aysan dadaalin si ay u dhagaystaan ugana jawaabaan walaacyada bulshada autism-ka ee ku saabsan amniga iyo isticmaalka mustaqbalka ee xogta hidde-sideedka," ayay Fletcher-Watson tidhi.

Waxay sheegtay in walaacyadan ay sii kordheen sababo la xidhiidha xaaladaha siyaasadeed, sida saameynta xisbiyada midigta fog, taas oo ka dhigaysa fikradda ah in xogta hidde-sideedka loo isticmaalo ujeedooyin sifeyn ah (eugenics) mid si dhab ah u suuragal ah.

"Tijaabooyinka uurka kahor waa dhaqan caadi ah oo laga isticmaalo UK, si loo ogaado xaalado ay keento karomoosoom dheeraad ah oo ku jira qaar ama dhammaan unugyada jidhka. Kuwaas waxaa ka mid ah:

- Down syndrome (oo leh karomoosoom 21 dheeraad ah),

- Edward's syndrome (oo leh karomoosoom 18 dheeraad ah),

- iyo Patau's syndrome (oo leh karomoosoom 13 dheeraad ah).

"Dalal qaarkood, sida Iceland, boqolkiiba ku dhow 100% uurka ayaa la soo afjaraa marka natiijada tijaabadaas ay noqoto mid togan," ayay ku dartay.

Baaxad balaadhan oo kala duwanaansho

Joseph Buxbaum, oo ah borofasoor cilminafsiga maskaxda ka ah Isbitaalka Mount Sinai ee New York, sidoo kalena aasaasay Autism Cascade Consortium — koox caalami ah oo saynisyahanno ah oo wadaaga muunado hidde-sideed iyo xog — wuxuu leeyahay in qaar ka mid ah dadka u ololeeya autism ay si qaldan u fahmayaan mowduuca.

"Marka qof i yiraahdo, 'Anigu autism baan leeyahay, mana u malaynayo in cilmi baaris la iga sameeyo ay muhiim tahay,' waxaan dhahaa, 'Ka warran qof aan lahayn luqad uu ku hadlo, leh garaad IQ ah oo 50 ah, isla markaana aan kaligiis u noolaan karin la'aanta kormeer joogto ah? Maxaad ka leedahay qofkaas?'" ayuu yidhi Buxbaum.

"Marka aan ka hadlayo faragelinta cilmiyeed, waxaan ka fakarayaa dadkaas — ee ma aha qofka kaliya ee aan si sahal ah u eegayn indhaha dadka, leh dano aan caadi ahayn, ama dhib kala kulma xaaladaha bulsho," ayuu ku daray.

Geschwind wuu ku raacsan yahay, isagoo tilmaamaya farqiga cad ee u dhexeeya qaybaha kala duwan ee baaxada noocyada autism-ka

"Qaybta ugu badan ee xaaladaha autism noocyadiisa waa kuwo loo baahan yahay in loola dhaqmo sida naafonimooyinka oo kale," ayuu yidhi, isagoo sharxaya in sidoo kale jirto koox kale oo si daran u saameysan oo u baahan daaweyn iyo daryeel gaar ah, wuxuuna yiri: "labadan xaaladood waa laba arrimood oo kala duwan."

Si loo kala saaro si wanaagsan baaxadda ballaadhan ee astaamaha autism, Guddiga Sayniska ee Lancet waxay si rasmi ah u aqbashay sanadka 2021 isticmaalka erayga "autism qoto dheer" (profound autism) si loogu tilmaamo dadka qaba autism oo aan awoodin inay daryeelaan baahidooda nafsadeed, isla markaana u baahan taageero joogto ah inta badan noloshooda.

Tan iyo markaas, tijaabooyin caafimaad oo kala duwan ayaa bilaabmay, kuwaas oo isticmaalaya xeelado daaweyn kala duwan si ay u beegsadaan hidde-sideyaasha gaar ah ee sababa naafonimada jirka iyo maskaxda ee dadka qaba autism-ka qotoda dheer.

Fikradda ugu weyn ee daaweyntan ka dambeysa waxay ku salaysan tahay in:

Qof walba uu leeyahay laba nuqul oo hidde-side kasta ah — mid laga helay aabbaha, midna hooyada.

Daraasad dhowaan ka baxday shaqaalaha cilmi-baarista ee Geschwind waxay ka faa'iidaysatay fikirka ah in inta badan hidde-sideyaasha cusub ee lala xidhiidhiyo autism-ka qotada dheer ay jabiyaan hal nuqul oo keliya, taasoo muujinaysa in haddii la xoojiyo nuqulka kale ee aan saameysneyn, la yareyn karo heerka naafonimo.

"Tani waxay ka dhigan tahay inaad leedahay nooc aan dhaawacmin oo aan muujinay in la xoojin karo shaqadiisa," ayuu yiri Geschwind.

Bourgeron isna dhawaan wuxuu sameeyay tijaabo caafimaad isagoo isticmaalaya lithium, si uu u kordhiyo awoodda hidde-sideyaasha Shank3 ee carruurta qaba autism-ka oo ay ku jiraan khaladaad ku jira hidde-sidahaas.

Marka laga hadlayo mustaqbalka, Geschwind wuxuu soo jeedinayaa in la adeegsado tignoolajiyadda CRISPR — taasoo u oggolaanaysa saynisyahannada inay wax ka beddelaan DNA-ga bini'aadamka — si faragelin hore loo sameeyo nolosha bini'aadamka xilli ay weli horumarineed tahay.

Tusaale ahaan, daawaynta hidde-sideyaasha (gene therapy) ayaa lagu siin karaa embryo-yada (ilmaha uurka ku jira) haddii la ogaado inay wataan khaladaad hidde-sideed badan.

"Dhawaan waxaan ogaanay hab lagu sameeyo tan," ayuu yidhi Geschwind. "Daawayntan waxay suurtagal tahay inaysan gebi ahaanba saxin hidde-sideha waxyeellaysan, balse ugu yaraan waxay wax ka saxdaa qayb ahaan."

Hay'adda FDA (U.S. Food and Drug Administration) ee Maraykanka ayaa dhawaan oggolaansho siisay shirkadda Jaguar Gene Therapy, oo ah shirkad ka shaqeysa bayoteknoolajiyadda, si ay u bilowdo tijaabo caafimaad (clinical trial) oo daawaynta hidde-sideyaasha lagu siinayo carruur qaba autism, kuwaas oo leh khalad hidde-side ah oo ku jira hiddaha Shank3, isla markaana qaba xaalad kale oo hidde-side ah oo lagu magacaabo Phelan-McDermid syndrome — taasoo saameysa horumarka, hadalka, iyo dhaqanka.

"Tijaabadan waxay suuragal noqotay sababtoo ah dhammaan carruurta ka qaybgalaysa waxay haystaan baaritaanno hidde-sideed oo caddaynaya xaaladdooda," ayuu yidhi Buxbaum, "sidoo kalena saynisyahanno ka socda Mount Sinai iyo meelo kale waxay 15-kii sano ee la soo dhaafay ku mashquulsanaayeen sidii ay u baran lahaayeen sida carruurtan u koraan ayagoo wata khaladaadkan."

"Xogtan taariikhiga ah waxaan u adeegsan karnaa sidii xakamayn cilmiyeed (control) tijaabada gudaheeda," ayuu raaciyay.

Inkastoo tijaabooyinkan ay si dhab ah faa'iido u yeelan karaan carruurta iyo qoysaskooda, Fletcher-Watson weli way ka shaki qabtaa in loo soo bandhigo sida daawo buuxda oo autism-ka lagu bogsiinayo, ha ahaado mid qoto dheer ama mid k kale. Waxay doorbideysaa in daawayntan loo arko mid lagula tacaalayo maskax ragaad, balse aan loo arkin in autism la baabi'inayo.

"Anigu waxaan aaminsanahay in marka dadka ay ka hadlayaan autism-ka hal hidde-side ku yimid (monogenic autism), aysan daacad ka ahayn," ayay tidhi Fletcher-Watson.

"Waxay ka hadlayaan sababaha hidde-sideedka ah ee keenaya maskax-ragaad oo ku dhacda dadka laga yaabo in ay sidoo kale qabaan autism. Waxaa jira maalgelin la heli karo oo loogu talagalay cilmi-baadhista autism-ka, wacyigelinta waalidiinta, iyo ilo badan oo kale, laakiin si taas la mid ah looma heli karo maskax-ragaadka."

Isla markaasna, Fletcher-Watson waxay muujisay rejo ka wanaagsan oo ku saabsan awoodda cilmi-baadhista hidde-sideyaasha si loo horumariyo daaweyn cusub oo lagu xallin karo xaaladaha kale ee autism-ka la socda, sida:

- Qalalka (epilepsy)

- Dhibaatooyinka hurdada

- Xanuunka laga dhaxlo ee ku qasba qof inuu ficillo joogto ah sameeyo (OCD).

- Dhibaatooyinka caloosha iyo dheef-shiidka (gastrointestinal disorders).

Bourgeron wuxuu haatan hoggaamiyaa mashruuc Yurub ah oo diiradda saaraya halista, adkeysiga, iyo kala-duwanaanshaha horumarka maskaxeed ee caafimaadka dhimirka, isagoo si dhow ula shaqeynaya dadka qaba autismka iyo qoysaskooda, si loo fahmo sababta autism badanaa ula imaanayo xaalado kale oo caafimaad iyo waxa dadka qaar uga dhigo kuwo u nugul xaaladahaa.

"Waxaan sidoo kale u baahan nahay inaan si wanaagsan u fahanno kala-duwanaanshaha neerfaha (neurodiversity) iyo inaan yareyno ceebeynta autism-ka la xiriirta," ayuu yidhi Bourgeron.

"Aniga oo ah khabiir ku takhasusay hidde-sideyaasha, waxaan u maleynayaa inaan u baahan nahay inaan si gaar ah u eegno baahiyaha qof kasta. Qaar ka mid ah dadka qaba autism-ka oo leh khaladaadka hidde-sideha Shank3 waxay u nugul yihiin xaalado aad u daran, oo u baahan daryeel 24 saac ah maalintii. Kuwo kalena waxay u baahan yihiin oo kaliya taageero yar oo dugsiga ah."

Ugu dambeyn wuxuu ku soo gabagabeeyay:

"Guud ahaan, waxaan u baahan nahay inaan si wanaagsan u aqoonsanno kala-duwanaanshaha maskaxeed, isla markaana aan sameyno wax walba oo suurtagal ah si aan u xaqiijino in dadka maskaxdooda ama jirkooda si ka duwan dadka kale u shaqeeyaan ay ugu dhex noolaan karaan bulshooyinkeenna"