Klinický obraz vývojové dysfázie v konceptu neurovývojových poruch

• Název práce v češtině: Klinický obraz vývojové dysfázie v konceptu neurovývojových poruch
• Název v anglickém jazyce: The clinical picture of developmental dysphasia in the concept of neuorodevelopmental disorders
• Klíčová slova: vývojová dysfázie, vývojová porucha jazyka, porucha autistického spektra, řeč-jazyk-komunikace u dětí s vývojovou dysfázií, řeč-jazyk-komunikace u dětí s poruchou autistického spektra, porovnání dětí s vývojovou dysfázií / vývojovou poruchou jazyka a poruchou autistického spektra, neurovývojové poruchy
• Klíčová slova anglicky: developmental dysphasia, developmental language disorder, autism spectrum disorder, speech-language-communication of children with developmental dysphasia, speech-language-communication of children with autism spectrum disorder, comparison between developmental dysphasia / developmental language disorder and autism spectrum disorder, neurodevelopmental disorders
• Akademický rok vypsání: 2016/2017
• Typ práce: disertační práce
• Jazyk práce: čeština
• Ústav: 2. lékařská fakulta UK (11-00012)
• Vedoucí / školitel: prof. MUDr. Michal Hrdlička, CSc.
• Řešitel: skrytý - zadáno a potvrzeno stud. odd.
• Datum přihlášení: 10.10.2016
• Datum zadání: 10.10.2016
• Datum potvrzení stud. oddělením: 10.10.2016
• Datum a čas obhajoby: 18.01.2022 10:30
• Místo konání obhajoby: Ke Karlovu 11, Praha 2, budova D1
• Datum odevzdání elektronické podoby: 29.11.2021
• Datum proběhlé obhajoby: 18.01.2022
• Předmět: Obhajoba dizertační práce (B90002)
• Oponenti: MUDr. Jiří Koutek, Ph.D.
• Konzultanti: prof. MUDr. Vladimír Komárek, CSc.

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Předběžná náplň práce

Úvod:Vývojová dysfázie (VD) je vývojovou poruchou jazyka, ač s vysokou prevalencí, tak s nízkým publikačním indexem a záměnami pojmů v definici (včetně české verze MKN – porucha „řeči“, namísto „jazyka“). Vědecký pohled prošel vývojem od symptomu přes specifickou nozologickou jednotku až k dnešnímu názvu Developmental language disorder a zařazení mezi onemocnění nové kategorie v ICD-11 (existující v DSM-5), označené jako Neurodevelopmental disorders. Jinou poruchou s charakteristickou patologií v komunikaci je porucha autistického spektra (PAS), která je zařazena mezi onemocnění stejné kategorie jako VD. Oproti VD má vyšší publikační index, nižší prevalenci, a ještě závažnější důsledky. Shodné jsou i záměny pojmů tří rozdílných domén: „řeč“, „jazyk“, „komunikace“, které PAS provázejí, nevyjímaje současné podtypy v ICD-11 s termínem „funkční jazyk“. V České republice je studií zabývajících se pacienty s VD velmi málo, jejich profil klinického obrazu dosud nebyl zpracován. I přes nárůst českého výzkumu PAS chybí řečový, jazykový a komunikační profil těchto jedinců, který je předmětem dlouhodobé a dosud neukončené diskuse světové vědy. Cílem naší studie bylo popsat klinický obraz dětí s VD, tj. vytvořit řečový, jazykový a komunikační profil, analogicky postupovat u dětí s PAS a porovnáním profilů zjistit vzájemný vztah obou diagnóz.

Metody:Náš soubor tvořilo 36 dětí s VD (24 chlapců a 12 dívek, průměrného věku 8,92 ± 2,20 let), které byly porovnány se 34 zdravými kontrolami (16 chlapců a 18 dívek, průměrného věku 8,95 ± 1,52 let) a 37 dětí s PAS (33 chlapců a 4 dívky, průměrného věku 8,10 ± 2,44 let). Studie vychází z víceoborového projektu, který porovnával probandy pomocí neurozobrazení (magnetické rezonance DTI). Vyloučeny byly děti s poruchou intelektu a jinými závažnými psychiatrickými či neurologickými onemocněními. Skupina PAS byla diagnostikována pomocí metod zlatého standardu ADOS a ADI-R. Pro nedostatek českých standardizovaných testů z oblasti domén jazyka a komunikace jsme použili zčásti ověřenou diagnostickou baterii, složenou z dostupných zdrojů: Token testu, Heidelberského testu řečového vývoje, NEPSY-II, Vyšetření fatických funkcí, Addenbrookského kognitivního testu, zkoušky fonologické smyčky, testu gramatiky aj. Byly testovány oblasti: receptivní a expresivní fonologie, morfosyntaxe a lexikonu, dále sémantika, fonetika, výbavnost pojmů, verbální paměť, lexie, diskurs a pragmatika; dohromady 34 položek. Za účelem minimalizace dopadů strukturálního jazyka na komunikaci jsme se při testování pragmatiky přizpůsobili naměřené úrovni receptivní morfosyntaxe, sémantiky a fonologické smyčky.

Výsledky:V doméně řeči byla u dětí obou poruch prokázána porucha artikulace fonologické i motorické etiologie. Zjistili jsme, že nejzávažnějším subtypem poruchy artikulace verbální dyspraxií trpí 75 % dětí s VD a 39 % dětí s PAS ve věku našich probandů. Výsledky z domény jazyka přinesly ve všech specifikovaných oblastech signifikantní rozdíly mezi dětmi s VD a zdravými kontrolami a přiblížily skupiny poruch. Skupinu PAS zřetelně rozdělily na dvě podskupiny: větší (70 %) s narušeným jazykem a menší (30 %) bez narušeného jazyka. V doméně komunikace se ukázalo, že děti s VD se od neurotypiků významně neodlišují, ale liší se od autistů. V diskursu (na hranici mezi jazykem a komunikací) se projevil signifikantní rozdíl mezi VD a kontrolami a podobnost mezi poruchami: avšak jen v jeho fluentnosti, nikoliv v koherenci. Podobnost ve fluenci byla pravděpodobně ovlivněna komorbidní ADHD se svými podtypy, a to vyrovnaně u obou poruch. Zato z pohledu koherence a informační hodnoty přinesl diskurs podobnost dysfatiků s neurotypiky a významnou odlišnost od autistů. Přestože skupina PAS oproti skupině VD měla u všech položek domény komunikace vyšší skóre, kromě shody v logoree, signifikantní rozdíl se projevil jen u echolálií, mimiky, gestiky a expresivní prozódie. V subtestu, který testoval propojení strukturálního a pragmatického jazyka (přiřazování výroků s emotivním podtextem k tvářím s emočním výrazem) bez možnosti přizpůsobení se úrovni strukturálního jazyka, se děti s VD přiblížily dětem s PAS více než ke zdravým kontrolám (podpora ve formě receptivní prozódie dětem s VD nepomohla).

Závěr:V této studii bylo testováno šest nulových hypotéz s následujícími výsledky: 1. „Dysfatické děti se v řeči neliší od zdravých dětí“ byla zamítnuta, neboť u dysfatických dětí byl zjištěn významně vyšší výskyt poruch artikulace. 2. „Dysfatické děti se v jazyku neliší od zdravých dětí“ byla zamítnuta z důvodu výrazně horšího jazykového skóre. 3. „Dysfatické děti se v komunikaci neliší od zdravých dětí“ nebyla zamítnuta, protože dysfatické děti se zdravým kontrolám podobaly. 4. „Dysfatické děti se v řeči neliší od dětí autistických“ byla zamítnuta, u dysfatických dětí jsme prokázali statisticky významný rozdíl ve vyšším výskytu závažné poruchy artikulace. 5. „Dysfatické děti se v jazyku neliší od dětí autistických“ byla zamítnuta, protože ve skupině PAS byly identifikovány dvě podskupiny: jedna s jazykovým narušením, druhá bez jazykového narušení. 6. „Dysfatické děti se v komunikaci neliší od dětí autistických“ byla zamítnuta pro signifikantní rozdíl u základních testovaných položek.

Předběžná náplň práce v anglickém jazyce

Introduction:Developmental dysphasia (DD) is a developmental language disorder with high prevalence, but also with low publication index and confusion of the terminology (including the Czech version of ICD - „speech“ disorder instead of „language“ disorder). The scientific view has passed the development from a symptom, through the specific nozologic unit to the current term Developmental language disorder (DLD) and its classification among a new category of diseases in ICD-11 (existing in DSM-5) called Neurodevelopmental disorders. Another disorder with the characteristic pathology in communication is the autism spectrum disorder (ASD) which is classified as a disease of the same category as DD. Compared to DD, it has a higher publication index, lower prevalence, and even more serious consequences. Three different domains that cause confusion, both in ASD and DD, are "speech", "language", and "communication". The same confusion applies to the current subtypes in ICD-11 with the term "functional language". In the Czech Republic there are very few studies dealing with the patients with DD, their profile of a clinic picture has not been processed so far. In spite of the increase of Czech research of ASD there is a missing speech, language, and communication profile of these individuals. This has been a subject of a long-term and so far unfinished discussion in the world of science. The aim of our study was to describe the clinic picture of the children with DD, i.e. to create the speech, language, and communication profile, to apply analogical procedures among children with ASD and to find the mutual relationship between the diagnoses by comparing those profiles.

Methods:Our cohort was comprised of 36 children with DD (24 boys and 12 girls, mean age 8.92 ± 2.20 years), who were compared with 34 healthy control subjects (16 boys and 18 girls, mean age 8.95 ± 1.52 years) and with 37 children with ASD (33 boys and 4 children, mean age 8.10 ± 2.44 years). The study proceeds from the multidisciplinary project that compared the probands using neuroimaging (magnetic resonance imaging DTI). Excluded were the children with intellectual disorder and other serious psychiatric or neurological diseases. The group of autistic children was diagnosed using ADOS and ADI-R, the ”gold standard” in diagnosing ASD. Due to the lack of Czech standardized tests in the field of language and communication domains, we used the partially verified battery composed of available sources: Token test, Heidelberg test of speech development, NEPSY-II, Comprehensive language assessment, Addenbrooke's Cognitive Examination, phonological loop test, test of grammatical impairment, etc. These were tested: receptive and expressive phonology, morphosyntax and lexicon, semantics, phonetics, word recalling, verbal memory, reading comprehension, discourse and pragmatics; in total 34 items. In order to minimize the impact of structural language on communication, we adapted the measured level of receptive morphosyntax, semantics, and phonological loop when testing pragmatics.

Results:In the domain of speech, a disorder of the articulation of phonological and motor etiology was demonstrated in children of both disorders. We discovered that the most serious subtype of articulation disorder, verbal dyspraxia, affects 75% of children with DD and 39% of children with ADS in the age of our probands. The results from the language domain showed significant differences between the children with DD and the healthy controls in all specified areas and they approximated the groups of disorders. The ASD group was clearly divided into two subgroups: the larger group (70 %) with language impairment and the smaller group (30 %) without language impairment. In the communication domain it was shown that the children with dysphasia are not much different from neurotypical ones, but they are different from autistic children. In the discourse (on the border between language and communication) there was a significant difference between DD and controls, and the similarity between disorders: but only in its fluency, not in coherence. Similarity in fluency was probably influenced by comorbid ADHD with its subtypes equally in both disorders. But from the coherence and information value point of view the discourse brought about the similarity of dysphatics with neurotypics and displayed significant dissimilarity from the autistic. Although the ADS group compared to the DD group had a higher score in all items of the communication domain, except the agreement in logorrhea, significant difference appeared only in echolalia, facial and gesture expressions and expressive prosody. In the subtest, which tested the connection between structural and pragmatic language (matching statements with the emotional implicit meaning to faces with emotional expression) without the possibility of adjusting to the level of structural language, children with DD approached children with ASD more than the healthy controls (support in the form of receptive prosody did not help children with DD).

Conclusion:In this study, six null hypotheses were tested with the following results: 1. "Dysphatic children do not differ in speech from healthy children" was rejected, because a substantially higher incidence of speech sound disorders was found among dysphatic children. 2. „Dysphatic children do not differ from healthy children in language“, was rejected due to a substantially worse language score. 3. „Dysphatic children do not differ from healthy children in communication“ was not rejected because dysphatic children showed certain similarities with healthy controls. 4. „Dysphatic children do not differ from autistic children in speech“ was rejected, we proved statistically significant difference in higher incidence of serious speech sound disorders among children with DD. 5. „Dysphatic children do not differ from autistic children in language„ was rejected, because two subgroups were identified in the ASD group: one with language impairment and the other without language impairment. 6. Dysphatic children do not differ from autistic children in communication“ was rejected for a significant difference in basic items tested.