Za\u010dn\u011bme t\u00edm, co v\u00edme stoprocentn\u011b, \u017ee za autismus NEM\u016e\u017dE. T\u00edm nejv\u011bt\u0161\u00edm stra\u0161\u00e1kem v\u00a0internetov\u00fdch diskus\u00edch je o\u010dkov\u00e1n\u00ed (speci\u00e1ln\u011b vakc\u00edna MMR). Tento m\u00fdtus vznikl v\u00a0roce 1998\u00a0na z\u00e1klad\u011b zfal\u0161ovan\u00e9 studie dvan\u00e1cti d\u011bt\u00ed, kterou jej\u00ed autor musel st\u00e1hnout a\u00a0p\u0159i\u0161el o\u00a0l\u00e9ka\u0159skou licenci. Od t\u00e9 doby prob\u011bhly ob\u0159\u00ed mezin\u00e1rodn\u00ed studie na milionech d\u011bt\u00ed. Sv\u011btov\u00e1 zdravotnick\u00e1 organizace (WHO) znovu ve sv\u00fdch prohl\u00e1\u0161en\u00edch potvrdila, \u017ee neexistuje absolutn\u011b \u017e\u00e1dn\u00e1 souvislost mezi vakc\u00ednami a\u00a0autismem. Je to jako vinit semafory za to, \u017ee auto dostalo smyk na n\u00e1led\u00ed\u00a0\u2013 \u010dasov\u00e1 shoda (o\u010dkuje se v\u00a0dob\u011b, kdy se symptomy PAS za\u010d\u00ednaj\u00ed p\u0159irozen\u011b objevovat) neznamen\u00e1 p\u0159\u00ed\u010dinu.<\/p>\n
Dal\u0161\u00edm historick\u00fdm omylem, kter\u00fd v\u011bda smetla ze stolu, je takzvan\u00e1 teorie \u201ematek-ledni\u010dek\u201c. V\u00a0pades\u00e1t\u00fdch letech minul\u00e9ho stolet\u00ed si psychologov\u00e9 mysleli, \u017ee autismus zp\u016fsobuje chladn\u00e1, m\u00e1lo emoci\u00e1ln\u00ed v\u00fdchova matky. Dnes v\u00edme, \u017ee je to naprost\u00fd nesmysl. Autismus je neurov\u00fdvojov\u00e1 odli\u0161nost, se kterou se d\u00edt\u011b u\u017e rod\u00ed, a\u00a0styl v\u00fdchovy ho nezp\u016fsob\u00ed.<\/p>\n
Genetika: Nekone\u010dn\u00e1 stavebnice s\u00a0tis\u00edci kosti\u010dkami<\/p>\n
Pokud hled\u00e1me hlavn\u00ed motor autismu, mus\u00edme se pod\u00edvat do DNA. Presti\u017en\u00ed \u010dasopis Nature publikoval rozs\u00e1hl\u00e9 studie potvrzuj\u00edc\u00ed, \u017ee genetika hraje kl\u00ed\u010dovou roli v\u00a070\u00a0a\u017e 80\u00a0% p\u0159\u00edpad\u016f.<\/p>\n
Jen\u017ee pozor\u00a0\u2013 neexistuje \u017e\u00e1dn\u00fd jeden jedin\u00fd \u201egen pro autismus\u201c. P\u0159edstavte si lidskou DNA jako ob\u0159\u00ed stavebnici z\u00a0lega. Aby vznikl autismus, nesta\u010d\u00ed jedna \u0161patn\u00e1 kosti\u010dka. Jde o\u00a0souhru stovek drobn\u00fdch genetick\u00fdch variant a\u00a0mutac\u00ed (v\u011bdci jich dnes mapuj\u00ed p\u0159es 800).<\/p>\n
N\u011bkdy tyto odli\u0161nosti d\u00edt\u011b zd\u011bd\u00ed po rodi\u010d\u00edch, u\u00a0kter\u00fdch se t\u0159eba projevuj\u00ed jen jako m\u00edrn\u00e1 introverze nebo preciznost. Jindy jde o\u00a0takzvan\u00e9 \u201ede novo\u201c mutace\u00a0\u2013 to znamen\u00e1, \u017ee vzniknou \u00fapln\u011b nov\u011b a\u00a0n\u00e1hodn\u011b ve vaj\u00ed\u010dku nebo spermii, ani\u017e by je rodi\u010de m\u011bli ve sv\u00e9 DNA. Je to prost\u011b biologick\u00e1 loterie.<\/p>\n
Vliv prost\u0159ed\u00ed: Kdy\u017e se geny potkaj\u00ed s\u00a0realitou<\/p>\n
Zbyl\u00fdch 20\u00a0a\u017e 30\u00a0% rizika pad\u00e1 na vrub vn\u011bj\u0161\u00edmu prost\u0159ed\u00ed. Ale nehledejte v\u00a0tom modern\u00ed chemii nebo j\u00eddlo ze supermarketu. V\u011bdeck\u00e9 t\u00fdmy, nap\u0159\u00edklad z\u00a0Johns Hopkins University, zkoumaj\u00ed faktory, kter\u00e9 ovliv\u0148uj\u00ed plod v\u00a0d\u011bloze b\u011bhem kritick\u00fdch oken v\u00fdvoje mozku.<\/p>\n
Mezi prok\u00e1zan\u00e9 rizikov\u00e9 faktory pat\u0159\u00ed:<\/p>\n
Vy\u0161\u0161\u00ed v\u011bk rodi\u010d\u016f (zejm\u00e9na otc\u016f, u kter\u00fdch s v\u011bkem stoup\u00e1 mno\u017estv\u00ed drobn\u00fdch chyb ve spermi\u00edch).Zdravotn\u00ed \tstav matky b\u011bhem t\u011bhotenstv\u00ed (nap\u0159. t\u011b\u017ek\u00e9 infekce s vysokou hore\u010dkou, t\u011bhotensk\u00e1 cukrovka, metabolick\u00e9 dysbalance \u010di chronick\u00e9 z\u00e1n\u011bty).P\u0159ed\u010dasn\u00fd \tporod nebo n\u00edzk\u00e1 porodn\u00ed hmotnost.<\/p>\n
Tyto faktory samy o\u00a0sob\u011b autismus nezp\u016fsob\u00ed. Funguje to sp\u00ed\u0161e jako lad\u011bn\u00ed velk\u00e9ho orchestru. Kdy\u017e m\u00e1 jeden muzikant m\u00edrn\u011b rozlad\u011bn\u00e9 housle (genetick\u00e1 n\u00e1chylnost), poslucha\u010d v\u00a0s\u00e1le to sotva pozn\u00e1. Pokud ale v\u00a0tu chv\u00edli do s\u00e1lu vtrhne pr\u016fvan a\u00a0polovina orchestru za\u010dne kv\u016fli chladu hr\u00e1t nep\u0159esn\u011b (vn\u011bj\u0161\u00ed vlivy jako infekce v\u00a0t\u011bhotenstv\u00ed), v\u00fdsledn\u00e1 symfonie se prom\u011bn\u00ed a\u00a0mozek se vyd\u00e1 po m\u00edrn\u011b odli\u0161n\u00e9 v\u00fdvojov\u00e9 dr\u00e1ze.<\/p>\n
Existuj\u00ed testy v\u00a0t\u011bhotenstv\u00ed nebo p\u0159ed n\u00edm?<\/p>\n
Tohle je ot\u00e1zka, kterou \u0159e\u0161\u00ed snad ka\u017ed\u00e1 m\u00e1ma, co pl\u00e1nuje dal\u0161\u00ed d\u00edt\u011b. Odpov\u011b\u010f m\u00e1 dv\u011b roviny.<\/p>\n
P\u0159ed ot\u011bhotn\u011bn\u00edm: Sou\u010dasn\u00e1 reproduk\u010dn\u00ed medic\u00edna um\u00ed nab\u00eddnout preimplanta\u010dn\u00ed genetick\u00e9 testov\u00e1n\u00ed (PGT) v r\u00e1mci IVF. Pokud m\u00e1 rodina v anamn\u00e9ze specifick\u00fd genetick\u00fd syndrom spojen\u00fd s autismem (nap\u0159\u00edklad syndrom k\u0159ehk\u00e9ho X), l\u00e9ka\u0159i dok\u00e1\u017eou vybrat embryo bez t\u00e9to z\u00e1t\u011b\u017ee. Nelze v\u0161ak plo\u0161n\u011b otestovat \u201eobecn\u00fd autismus\u201c, proto\u017ee t\u011bch kombinac\u00ed gen\u016f je p\u0159\u00edli\u0161 mnoho.B\u011bhem t\u011bhotenstv\u00ed: Standardn\u00ed prenat\u00e1ln\u00ed screeningy (ultrazvuky, b\u011b\u017en\u00e9 testy z krve) autismus odhalit neum\u00ed. Nejnov\u011bj\u0161\u00ed v\u00fdzkumy sice experimentuj\u00ed s anal\u00fdzou tzv. cell-free DNA z krve matky, kde hledaj\u00ed epigenetick\u00e9 zna\u010dky (jak\u00e9si chemick\u00e9 vyp\u00edna\u010de gen\u016f) spojen\u00e9 s rizikem PAS, ale to je st\u00e1le ve f\u00e1zi v\u011bdeck\u00fdch studi\u00ed, nikoliv b\u011b\u017en\u00e9 l\u00e9ka\u0159sk\u00e9 praxe.<\/p>\n
Autismus zkr\u00e1tka nen\u00ed jako Down\u016fv syndrom, kde m\u00e1me o\u00a0chromozom nav\u00edc a\u00a0vid\u00edme ho hned. Je to sp\u00ed\u0161e jako talent na hudbu nebo vysok\u00fd vzr\u016fst\u00a0\u2013 slo\u017eit\u00fd koktejl, kter\u00fd z\u00a0ultrazvuku nep\u0159e\u010dteme.<\/p>\n
Jak\u00e1 je \u0161ance u\u00a0dal\u0161\u00edho d\u00edt\u011bte? Sourozeneck\u00e9 riziko<\/p>\n
Kdy\u017e u\u017e doma jedno d\u00edt\u011b s\u00a0PAS m\u00e1me, logicky se pt\u00e1me, jak dopadne p\u0159\u00edpadn\u00e9 dal\u0161\u00ed t\u011bhotenstv\u00ed. Rozs\u00e1hl\u00e9 mezin\u00e1rodn\u00ed datab\u00e1ze (nap\u0159. Baby Siblings Research Consortium) ukazuj\u00ed, \u017ee celkov\u00e9 riziko opakov\u00e1n\u00ed autismu u\u00a0mlad\u0161\u00edho sourozence je kolem 20\u00a0%.<\/p>\n
Statistika se ale v\u00fdrazn\u011b m\u011bn\u00ed podle pohlav\u00ed. Pokud je star\u0161\u00ed sourozenec d\u00edvka, riziko pro dal\u0161\u00ed d\u00edt\u011b b\u00fdv\u00e1 o\u00a0n\u011bco vy\u0161\u0161\u00ed, ne\u017e kdy\u017e je star\u0161\u00edm sourozencem chlapec. A\u00a0pokud se narod\u00ed mlad\u0161\u00ed bratr, m\u00e1 statisticky vy\u0161\u0161\u00ed pravd\u011bpodobnost diagn\u00f3zy ne\u017e mlad\u0161\u00ed sestra. Po\u0159\u00e1d je to ale jako opakovan\u00fd hod kostkou\u00a0\u2013 minul\u00e9 hody nijak neovliv\u0148uj\u00ed ten sou\u010dasn\u00fd, geny se poka\u017ed\u00e9 nam\u00edchaj\u00ed znovu od nuly.<\/p>\n
Z\u00e1hada jm\u00e9nem b\u0159icho: Osa st\u0159evo-mozek<\/p>\n
Ur\u010dit\u011b jste si v\u0161imli, \u017ee spousta autistick\u00fdch d\u011bt\u00ed trp\u00ed na za\u017e\u00edvac\u00ed pot\u00ed\u017ee, nad\u00fdm\u00e1n\u00ed nebo extr\u00e9mn\u00ed selektivitu v\u00a0j\u00eddle. Nejnov\u011bj\u0161\u00ed studie publikovan\u00e9 v\u00a0\u010dasopisech jako Nature Communications intenzivn\u011b zkoumaj\u00ed takzvanou osu st\u0159evo-mozek. Ukazuje se, \u017ee mikrobiom (slo\u017een\u00ed bakteri\u00ed v\u00a0na\u0161em b\u0159i\u0161e) u\u00a0d\u011bt\u00ed s\u00a0PAS vykazuje ur\u010dit\u00e9 odli\u0161nosti a\u00a0produkuje m\u00e9n\u011b neuroaktivn\u00edch l\u00e1tek.<\/p>\n
V\u011bda tady ale zat\u00edm nar\u00e1\u017e\u00ed na probl\u00e9m typu \u201evejce, nebo slepice\u201c. Jsou ty odli\u0161n\u00e9 bakterie v\u00a0b\u0159i\u0161e p\u0159\u00ed\u010dinou autismu, nebo jsou jen d\u016fsledkem toho, \u017ee autistick\u00e9 d\u011bti kv\u016fli smyslov\u00e9mu p\u0159ehlcen\u00ed jed\u00ed jen p\u00e1r vybran\u00fdch potravin? Je to jako se za\u0161modrchan\u00fdmi sluch\u00e1tky\u00a0\u2013 v\u00edme, \u017ee oba konce dr\u00e1tu spolu souvis\u00ed, ale v\u011bdci teprve rozpl\u00e9taj\u00ed, kde ten uzel vlastn\u011b za\u010dal.<\/p>\n
\u017dijeme v\u00a0epidemii autismu? Pohled na \u010d\u00edsla a\u00a0nov\u00e9 diagn\u00f3zy<\/p>\n
Kdy\u017e se pod\u00edv\u00e1me na statistiky, \u010d\u00edsla na prvn\u00ed pohled vypadaj\u00ed d\u011bsiv\u011b. Podle nejnov\u011bj\u0161\u00edch zpr\u00e1v americk\u00e9ho Centra pro kontrolu a\u00a0prevenci nemoc\u00ed (CDC) m\u00e1 dnes diagn\u00f3zu autismu zhruba 1\u00a0z\u00a031\u00a0d\u011bt\u00ed. Lid\u00e9 se pak logicky ptaj\u00ed: Pokud je to z\u00e1le\u017eitost genetiky, kde se to tu najednou vzalo? \u017dijeme snad v\u00a0n\u011bjak\u00e9 modern\u00ed epidemii?<\/p>\n
Abychom tomu porozum\u011bly, mus\u00edme se pod\u00edvat na data v\u00a0\u0161ir\u0161\u00edm kontextu:<\/p>\n
Celosv\u011btov\u00fd a evropsk\u00fd pr\u016fm\u011br: Organizace Autism Europe dlouhodob\u011b uv\u00e1d\u00ed, \u017ee poruchy autistick\u00e9ho spektra postihuj\u00ed p\u0159ibli\u017en\u011b 1 ze 100 lid\u00ed (tedy asi 1 % populace). Rozd\u00edly mezi USA a Evropou nejsou d\u00e1ny jinou genetikou, ale masivnost\u00ed plo\u0161n\u00e9ho screeningu u americk\u00fdch pediatr\u016f.\u010cesk\u00e1 realita: V \u010cesk\u00e9 republice nem\u00e1me jeden centr\u00e1ln\u00ed registr, ale expertn\u00ed odhady N\u00e1rodn\u00edho \u00fastavu pro autismus (NAUTIS) ukazuj\u00ed, \u017ee na spektru u n\u00e1s \u017eije zhruba 1,5 a\u017e 2 % obyvatel. Ka\u017ed\u00fd rok v \u010cesku p\u0159ibude p\u0159ibli\u017en\u011b 1 000 a\u017e 1 500 nov\u011b diagnostikovan\u00fdch d\u011bt\u00ed.<\/p>\n
Skute\u010dn\u00fd n\u00e1r\u016fst \u010d\u00edsel tedy neznamen\u00e1, \u017ee se rod\u00ed re\u00e1ln\u011b v\u00edc autist\u016f. Znamen\u00e1 to, \u017ee jsme si nasadili mnohem lep\u0161\u00ed l\u00e9ka\u0159sk\u00e9 br\u00fdle a\u00a0radik\u00e1ln\u011b se zm\u011bnila samotn\u00e1 diagnostick\u00e1 krit\u00e9ria.<\/p>\n
Konec star\u00fdch \u0161katulek: Jak vypadaj\u00ed nov\u00e9 diagn\u00f3zy?<\/p>\n
Z\u00e1sadn\u00ed zlom nastal v\u00a0tom, jak medic\u00edna autismus definuje. Pokud si pamatujete term\u00edny jako d\u011btsk\u00fd autismus, atypick\u00fd autismus nebo Asperger\u016fv syndrom, v\u011bzte, \u017ee z\u00a0modern\u00edch psychiatrick\u00fdch manu\u00e1l\u016f (americk\u00e9ho DSM-5\u00a0i\u00a0celosv\u011btov\u00e9ho MKN-11\u00a0od WHO) tyto n\u00e1zvy definitivn\u011b miz\u00ed.<\/p>\n
L\u00e9ka\u0159i zjistili, \u017ee rozd\u011blovat autismus do pevn\u011b uzav\u0159en\u00fdch krabi\u010dek ned\u00e1v\u00e1 smysl. Nov\u011b proto existuje pouze jedna zast\u0159e\u0161uj\u00edc\u00ed diagn\u00f3za: Porucha autistick\u00e9ho spektra (PAS).<\/p>\n
M\u00edsto vym\u00fd\u0161len\u00ed nov\u00fdch jmen pro r\u016fzn\u00e9 projevy te\u010f v\u011bda vn\u00edm\u00e1 autismus jako jedno plynul\u00e9 spektrum, u\u00a0kter\u00e9ho se p\u0159i diagnostice ur\u010duje pouze m\u00edra pot\u0159ebn\u00e9 podpory (od m\u00edrn\u00e9 a\u017e po vysokou) a\u00a0to, zda je p\u0159\u00edtomno intelektov\u00e9 znev\u00fdhodn\u011bn\u00ed nebo naru\u0161en\u00ed \u0159e\u010di.<\/p>\n
D\u00edky tomuto nov\u00e9mu, otev\u0159en\u011bj\u0161\u00edmu syst\u00e9mu dok\u00e1\u017eeme zachytit i\u00a0lidi s\u00a0m\u00edrn\u011bj\u0161\u00ed formou. D\u011bti, kter\u00e9 v\u00a0minul\u00fdch dek\u00e1d\u00e1ch kon\u010dily s\u00a0n\u00e1lepkou \u201enevychovan\u00e9\u201c, \u201epodiv\u00ednsk\u00e9\u201c nebo s\u00a0chybnou diagn\u00f3zou schizofrenie, dnes kone\u010dn\u011b dost\u00e1vaj\u00ed spr\u00e1vn\u00e9 jm\u00e9no pro svou jinakost. Neza\u017e\u00edv\u00e1me epidemii nemocn\u00fdch d\u011bt\u00ed, ale epidemii l\u00e9ka\u0159sk\u00e9ho porozum\u011bn\u00ed.<\/p>\n
V\u00fdzkum jde kup\u0159edu: C\u00edlem nen\u00ed \u201el\u00e9\u010dba\u201c, ale porozum\u011bn\u00ed<\/p>\n
Sm\u011br v\u011bdeck\u00fdch studi\u00ed se v\u00a0posledn\u00edch letech z\u00e1sadn\u011b prom\u011bnil. V\u011bdci u\u017e se nesna\u017e\u00ed autismus \u201evyl\u00e9\u010dit\u201c jako ch\u0159ipku. Modern\u00ed studie se zam\u011b\u0159uj\u00ed na to, jak co nejd\u0159\u00edve odhalit biologick\u00e9 podtypy autismu, abychom d\u011btem dok\u00e1zali nab\u00eddnout spr\u00e1vnou c\u00edlenou podporu u\u017e od miminka. V\u00fdzkum na poli neuroplasticity ukazuje, \u017ee v\u010dasn\u00e1, respektuj\u00edc\u00ed intervence dok\u00e1\u017ee d\u011btsk\u00e9mu mozku neskute\u010dn\u011b usnadnit komunikaci se sv\u011btem.<\/p>\n
Kdy\u017e se m\u011b tedy n\u011bkdo zept\u00e1, kv\u016fli \u010demu se rod\u00ed d\u011bti s\u00a0PAS, odpov\u00edd\u00e1m jako v\u011bdkyn\u011b i\u00a0jako m\u00e1ma. Rod\u00ed se tak kv\u016fli nekone\u010dn\u00e9 variabilit\u011b p\u0159\u00edrody. Nen\u00ed to ni\u010d\u00ed vina. Nen\u00ed to trest za \u0161patn\u00e9 j\u00eddlo, o\u010dkov\u00e1n\u00ed nebo nedostatek l\u00e1sky. Je to prost\u011b biologie v\u00a0cel\u00e9 sv\u00e9 komplexnosti.<\/p>\n","protected":false},"excerpt":{"rendered":"Za\u010dn\u011bme t\u00edm, co v\u00edme stoprocentn\u011b, \u017ee za autismus NEM\u016e\u017dE. T\u00edm nejv\u011bt\u0161\u00edm stra\u0161\u00e1kem v\u00a0internetov\u00fdch diskus\u00edch je o\u010dkov\u00e1n\u00ed (speci\u00e1ln\u011b vakc\u00edna…\n","protected":false},"author":2,"featured_media":162694,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":"","_share_on_mastodon":"0"},"categories":[12],"tags":[15408,67,68,444,650,649,77,4095],"class_list":["post-162693","post","type-post","status-publish","format-standard","has-post-thumbnail","category-byznys","tag-autismus","tag-business","tag-byznys","tag-deti","tag-lide","tag-spolecnost","tag-veda","tag-vyzkum"],"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@cz\/117007543367687269","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/posts\/162693","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/comments?post=162693"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/posts\/162693\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/media\/162694"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/media?parent=162693"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/categories?post=162693"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/cz\/wp-json\/wp\/v2\/tags?post=162693"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}