Clinical Applicability of Cognitive Testing in Huntington Disease

• Název práce v češtině: Využití kognitivích testů u Huntingtonovy nemoci v klinické praxi
• Název v anglickém jazyce: Clinical Applicability of Cognitive Testing in Huntington Disease
• Klíčová slova: Huntingtonova nemoc, Jednotná škála Huntingtonovy nemoci, neuropsychologická testová baterie, kognitivní výkon, normativní data, normativní kalkulačka
• Klíčová slova anglicky: Huntington disease, Unified Huntington's Disease Rating Scale, neuropsychological test battery, cognitive performance, normative data, normative calculator
• Akademický rok vypsání: 2016/2017
• Typ práce: disertační práce
• Jazyk práce: angličtina
• Ústav: Neurologická klinika 1. LF UK a VFN (11-00600)
• Vedoucí / školitel: doc. MUDr. Jiří Klempíř, Ph.D.
• Řešitel: skrytý - zadáno a potvrzeno stud. odd.
• Datum přihlášení: 12.10.2016
• Datum zadání: 12.10.2016
• Datum potvrzení stud. oddělením: 12.10.2016
• Datum a čas obhajoby: 20.03.2023 13:00
• Místo konání obhajoby: Neurologická klinika 1. LF UK a VFN, Kateřinská 30, Praha 2
• Datum odevzdání elektronické podoby: 16.12.2022
• Datum proběhlé obhajoby: 20.03.2023
• Předmět: Obhajoba dizertační práce (B90002)
• Oponenti: prof. MUDr. Robert Rusina, Ph.D.

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Předběžná náplň práce

Úvod:Huntingtonova nemoc (HN) je dědičné neurodegenerativní onemocnění projevující se poruchami hybnosti, chování a kognitivním deficitem s fatálními následky.
Cíle:Cílem této studie bylo ověřit psychometrické vlastnosti standardní kognitivní baterie používané u HN a stanovit jazykově specifické normativní hodnoty.
Soubor a metodika: V první studii byl porovnáván kognitivní výkon u 106 pacientů v různých stádiích HN a u 100 zdravých kontrol párovaných podle věku, pohlaví a vzdělání. Neuropsychologická baterie zahrnovala Test modalit čísel a symbolů (SDMT), Stroopův test, Test cesty, kategoriální a fonemickou verbální fluenci. U pacientů byl navíc komplexně hodnocen motorický a funkční stav.
Ve druhé studii byl hodnocen kognitivní výkon 3 267 zdravých osob. Práce byla zaměřena na stratifikaci kognitivního výkonu v souvislosti s věkem, pohlavím, rodným jazykem a vzděláním. Dalším cílem bylo na základě získaných dat vytvořit normativní kalukátor pro hodnocení míry kognitivního deficitu v různých jazycích (angličtina, němčina, španělština, italština, polština, francouzština, nizozemština, dánština).
Výsledky: V první studii analýza rozptylu ukázala, že zdravé kontroly dosahovaly významně lepších výsledků než pacienti. Kognitivní výkon koreloval s motorickým a funkčním postižením (p < 0,001) nezávisle na věku a délce trvání onemocnění.
Normativní studie prokázala významný nelineární pokles kognitivního výkonu s postupujícím věkem u zdravých osob. Kognitivní výkon ve všech testech byl významně lepší u lidí, kteří dosáhli vyššího vzdělání. Kromě toho byly ve všech testech zjištěny jazykově podmíněné rozdíly v kognitivní výkonu. Z hlediska pohlaví byl zaznemenán u žen trend k lepšímu výkonu v SDMT.
Závěr:Výsledky obou studií poskytují normativní data pro kognitivní baterii specifickou pro HN, která jsou stratifikovaná podle věku, vzdělání, pohlaví a jazyka. Získané normativní hodnoty byly využity pro vytvoření volně přístupného webového kalkulátoru, který umožňuje využití v klinické i výzkumné praxi.

Předběžná náplň práce v anglickém jazyce

Introduction:Huntington disease (HD) is an autosomal dominant neurodegenerative disorder manifested by motor, behavioural and cognitive deficits with fatal consequences.
Aims:This study aims to validate the psychometric properties of a standard cognitive battery used in HD and establish language-specific normative values.
Methods:In the first study, cognitive performance was compared in 106 patients at different stages of HD and 100 healthy controls matched for age, sex, and education. The neuropsychological battery included the Symbol Digit Modalities Test, Stroop Word Reading Test, Stroop Colour Naming Test, Stroop Interference Test, Trail Making Test-A and B, Category and Letter Verbal Fluency. In addition, patients were comprehensively assessed for motor and functional status.
In the second study, the cognitive performance of 3,267 healthy subjects was assessed. The work focused on the stratification of cognitive performance concerning age, gender, language and level of education. Another aim was to establish the language-specific normative values and implement a web-based normative calculator to assess the degree of cognitive deficit in different languages (English, German, Spanish, Italian, Polish, French, Dutch, Danish).
Results:In the first study, analysis of variance showed that healthy controls performed significantly better than patients on all cognitive tests. Cognitive performance was correlated with motor and functional impairment (p < 0.001) independent of age and disease duration.
A normative study showed a significant non-linear decline in cognitive performance with advancing age in healthy subjects. Cognitive performance in all tests was significantly better in subjects who had attained higher education levels. In addition, language-related differences in cognitive performance were found in all tests. In terms of gender, there was a trend towards better performance on the SDMT for females.
Conclusion:The results of both studies provide normative data for a specific cognitive battery stratified by age, education, gender, and language to be used in the field of HD and other neurodegenerative diseases. The normative values obtained were used to create a freely available web-based calculator that allows for use in clinical and research practice.