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ID

13739

Beskrivning

Background and Purpose: The purpose of the DESCRIBE study is to document the natural course of diseases in context of medical care of neurodegenerative disorders as well as cerebrovascular diseases and to perform phenotyping of the test persons. Disease-spanning analyses of the measured clincial data, the results of the imaging processes, results of the analysis of the biometerials including genetic analysis are planed. Principal Investigator: Prof. Klockgether, Dr. Spottke DZNE, Bonn. Source: DESCRIBE-Studie http://www.dzne.de/forschung/forschungsbereiche/klinische-forschung/studien/describe-bn006.html Participating Study Sites: Berlin, Bonn, Göttingen, Dresden, Köln, Magdeburg, München, Rostock/Greifswald, Tübingen

Länk

http://www.dzne.de/forschung/forschungsbereiche/klinische-forschung/studien/describe-bn006.html

Nyckelord

D016430

Diagnostic Procedure

Behandlungsbedürftigkeit, Begutachtung

Neurodegenerative Diseases

Uppladdad den

1 mars 2016

DOI

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Creative Commons BY-NC 3.0

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DESCRIBE (DZNE – Clinical Register Study of neurodegenerative Disorders) CRF Diagnostic Criteria

model
Detaljer

CRF Diagnostic Criteria

1 Formulär

StudyEvent: ODM
1. CRF Diagnostic Criteria

Name

Typ

Description | Question | Decode (Coded Value)

Datatyp

Alias

Date of visit

Item Group

Date of visit

C1320303 (UMLS CUI-1)

date of visit

Item

Date of visit

date

C1320303 (UMLS CUI [1])

study id

Item

Study-ID:

text

C2826693 (UMLS CUI [1])

visit name

Item

Visit:

text

C2826704 (UMLS CUI [1])

Mild cognitive impairment (MCI)

Item Group

Mild cognitive impairment (MCI)

C1270972 (UMLS CUI-1)

current MCI

Item

Is the patient currently diagnosed with a MCI according to Winblad & Petersen 2004?

boolean

C1270972 (UMLS CUI [1,1])
C0150312 (UMLS CUI [1,2])

cognitive degration

Item

Cognitive Impairment 1. Subjective deterioration of cognition observed by the patient or an informant and/or...

boolean

C1270972 (UMLS CUI [1,1])
C0854193 (UMLS CUI [1,2])

psychometric test proving cognitive degradation

Item

2. Evidence of degradation of cognition in time due to psychometric tests

boolean

C1270972 (UMLS CUI [1,1])
C0033920 (UMLS CUI [1,2])

everyday functioning

Item

3. Ability to perform activities of everyday living/ minimal impairment of complex instrumental everyday functions

boolean

C0562507 (UMLS CUI [1])

signs of disturbed consciousness

Item

4. No signs of disturbed consciousness, of a delirium, of a dementia or of an amnesic aphasia that cannot be explained better by other psychotic illnesses (e.g. a disorder in connection with psychotropic substances or major depression).

boolean

C0234428 (UMLS CUI [1])
C0011206 (UMLS CUI [2])
C0497327 (UMLS CUI [3])

wordlist

Item

Operationalization 1. Wordlist - delayed word retrieval

boolean

C0456660 (UMLS CUI [1])

visuospatial ability

Item

2. Visuospatial ability - Drawing

boolean

C0814069 (UMLS CUI [1])
C0565772 (UMLS CUI [2])

visuospatial ability delayed

Item

3. Visuospatial ability - Delayed retrieval

boolean

C0814069 (UMLS CUI [1])

trail making test

Item

4. Trial making test A or B

boolean

C0040604 (UMLS CUI [1])

semantic or phonetic fluency

Item

5. Semantic or phonetic fluency

boolean

C0233714 (UMLS CUI [1])

object naming

Item

6. Object naming

boolean

C0451342 (UMLS CUI [1])

normal finding FAQ

Item

7. No abnormal finding FAQ

boolean

C3827007 (UMLS CUI [1,1])
C0205307 (UMLS CUI [1,2])

amnesic MCI single domain

Item

Classification a. Amnesic MCI single domain (only memory)

boolean

C1270972 (UMLS CUI [1])

amnesic MCI multi domain

Item

b. Amnesic MCI multi domain (memory and one additional area)

boolean

C1270972 (UMLS CUI [1])

non-amnesic MCI single domain

Item

c. Non-amnesic MCI single domain (one area, except memory)

boolean

C1270972 (UMLS CUI [1])

non-amnesic MCI multi domain

Item

d. Non-amnesic MCI multi domain (several areas, except memory)

boolean

C1270972 (UMLS CUI [1])

Dementia in Alzheimer's Disease (AD)

Item Group

Dementia in Alzheimer's Disease (AD)

C3665464 (UMLS CUI-1)

NINCDS/ADRDA-Criteria AD diagnosis

Item

Is the patient currently diagnosed with AD according to NINCDS/ADRDA-Criteria (McKhann et al. 1984)?

boolean

C3665464 (UMLS CUI [1,1])
C2828081 (UMLS CUI [1,2])

dementia

Item

I. Necessary requirements Evidence of dementia in a clinical examination including neuropsychological tests

boolean

C0497327 (UMLS CUI [1])
C0027902 (UMLS CUI [2])

cognitive deficits

Item

Deficits in at least two cognitive areas

boolean

C0009241 (UMLS CUI [1])

progressive disturbance of memory

Item

Progressive disturbance of memory and other cognitive functions

boolean

C1864985 (UMLS CUI [1,1])
C0025260 (UMLS CUI [1,2])
C1864985 (UMLS CUI [2,1])
C0392335 (UMLS CUI [2,2])

no consciousness disturbance

Item

No consciousness disturbance

boolean

C0424525 (UMLS CUI [1])

age at onset

Item

Onset between age of 40 and 90, mostly 65 and older

boolean

C0150907 (UMLS CUI [1])

other system- or brain diseases

Item

No evidence of other system- or brain diseases as cause

boolean

C0442893 (UMLS CUI [1])
C0006111 (UMLS CUI [2])

progressive deterioration of specific cognitive functions

Item

II. Subsidiary Findings Progressive deterioration of specific cognitive functions, e.g. of speech (aphasia), motor activity (apraxia) and perception (agnosia)

boolean

C0854193 (UMLS CUI [1,1])
C0205329 (UMLS CUI [1,2])

impairment of everyday activities and behavioral change

Item

Impairment of everyday activities and emerging of behavior modifications

boolean

C0562507 (UMLS CUI [1,1])
C0221099 (UMLS CUI [1,2])
C0542299 (UMLS CUI [2])

family history of similar disorders

Item

Family history of similar disorders (especially if neurologically proven)

boolean

C0241889 (UMLS CUI [1])

cerebral atrophy

Item

Results of additional examinations: Evidence of - progressively evolving in follow ups- cerebral atrophy due to imaging diagnostics

boolean

C0235946 (UMLS CUI [1])

normal finding or unspecific changes in EEG

Item

Normal finding or unspecific changes in EEG

boolean

C0234550 (UMLS CUI [1,1])
C0205307 (UMLS CUI [1,2])
C0234550 (UMLS CUI [2,1])
C0750540 (UMLS CUI [2,2])

normal finding of cerebrospinal fluid

Item

Normal finding of cerebrospinal fluid

boolean

C0007806 (UMLS CUI [1,1])
C0205307 (UMLS CUI [1,2])

diagnosis of Alzheimers disease

Item

III. Matching with a probable diagnosis of Alzheimer's disease Temporal stagnation in course of disease

boolean

C1848980 (UMLS CUI [1,1])
C0242656 (UMLS CUI [1,2])

attendant symptoms

Item

Attendant symptoms like depression, insomnia, incontinence, illusion, hallucination, delusion, sudden aggressive outbreaks, sexual dysfunction and weight loss

boolean

C0011581 (UMLS CUI [1])
C0917801 (UMLS CUI [2])
C0021167 (UMLS CUI [3])
C0020903 (UMLS CUI [4])
C0018524 (UMLS CUI [5])
C0011253 (UMLS CUI [6])
C0001807 (UMLS CUI [7])
C0549622 (UMLS CUI [8])
C0936227 (UMLS CUI [9])

neurological distinctive feature

Item

Neurological distinctive feature (particularly in case of advanced disease) like elevated muscle tonus, myoclonus or gait disturbance

boolean

C1704258 (UMLS CUI [1,1])
C0205494 (UMLS CUI [1,2])
C0026841 (UMLS CUI [2])
C0027066 (UMLS CUI [3])
C1856566 (UMLS CUI [4])

epileptic seizure

Item

Epileptic seizure (in case of advanced disease)

boolean

C1411824 (UMLS CUI [1])

CT commensurate with age

Item

CT commensurate with age

boolean

C0040405 (UMLS CUI [1,1])
C0001783 (UMLS CUI [1,2])

sudden apoplectic onset

Item

IV. Exclusion Criteria Sudden, apoplectic onset

boolean

C1388315 (UMLS CUI [1,1])
C1276802 (UMLS CUI [1,2])

focal neurological signs

Item

Focal neurological signs like hemiparesis, sensorial failures, visual field defects or problems with coordination in early stage of disease

boolean

C0018989 (UMLS CUI [1])
C0152027 (UMLS CUI [2])
C0004134 (UMLS CUI [3])
C3887875 (UMLS CUI [4])

epileptic seizures or gait disturbance

Item

Epileptic seizures or gait disturbance at onset or in early stage of disease

boolean

C1411824 (UMLS CUI [1])
C1856566 (UMLS CUI [2])

dementia syndrome with atypical symptomatic

Item

V. Clinical possible AD Dementia syndrome with atypical symptomatic with regard to onset, course and deficit profile, in absence of other neurological, psychiatric or internal disease that could cause the dementia syndrome

boolean

C0497327 (UMLS CUI [1,1])
C0231220 (UMLS CUI [1,2])

second systemic or brain disease

Item

Second systemic or brain disease that could cause dementia, but is commonly not regarded as a substantial cause

boolean

C0442893 (UMLS CUI [1])
C0006111 (UMLS CUI [2])

progressive severe cognitive deficit

Item

Progressive severe cognitive deficit without notable different cause

boolean

C0009241 (UMLS CUI [1,1])
C0205329 (UMLS CUI [1,2])
C0205082 (UMLS CUI [1,3])

Posterior cortical atrophy (PCA)

Item Group

Posterior cortical atrophy (PCA)

C0235946 (UMLS CUI-1)
C0205095 (UMLS CUI-2)

PCA diagnosis

Item

Is the patient currently diagnosed with PCA according to the criteria of Mendez et.al. 2002?

boolean

C0235946 (UMLS CUI [1,1])
C0205095 (UMLS CUI [1,2])

insidious onset and gradual progression

Item

Main symptoms (all symptoms have to be present) A. Insidious onset and gradual progression

boolean

C1298634 (UMLS CUI [1])
C1854645 (UMLS CUI [2])

visual disorders

Item

B. Presentation with visual disorders while visual function intact

boolean

C0042790 (UMLS CUI [1])

prominent complex visual deficits

Item

C. Evidence of prominent complex visual deficits

boolean

C3665347 (UMLS CUI [1,1])
C0205402 (UMLS CUI [1,2])
C0439855 (UMLS CUI [1,3])

Balint syndrome

Item

Elements of Balint syndrome

boolean

C0270706 (UMLS CUI [1])

visual agnosia

Item

Visual agnosia

boolean

C0234502 (UMLS CUI [1])

dressing apraxia

Item

Dressing apraxis

boolean

C0234529 (UMLS CUI [1])

topographic disorientation

Item

Topographic disorientation

boolean

C0233407 (UMLS CUI [1,1])
C1639223 (UMLS CUI [1,2])

relatively small deficits of memory and word fluency

Item

D. Relatively small memory deficits and word fluency deficits

boolean

C0233794 (UMLS CUI [1,1])
C1843272 (UMLS CUI [1,2])
C2018029 (UMLS CUI [2,1])
C1843272 (UMLS CUI [2,2])

relatively good awareness of disability

Item

E. Relatively good awareness of disability with or without depression

boolean

C0424227 (UMLS CUI [1,1])
C0205170 (UMLS CUI [1,2])

presenile onset

Item

Subsidiary diagnosis A. Presenile onset

boolean

C0750901 (UMLS CUI [1])

alexia

Item

B. Alexia

boolean

C0002018 (UMLS CUI [1])

Gerstmann syndrome

Item

C. Elements of Gerstmann syndrome

boolean

C0017494 (UMLS CUI [1])

ideomotor apraxia

Item

D. Ideomotor apraxia

boolean

C0234523 (UMLS CUI [1])

physical examination

Item

E. Physical examination within the norms

boolean

C0031809 (UMLS CUI [1])

impairment of perceptual functions

Item

F. Neuropsychiatric: Prominent impairment of perceptual functions

boolean

C0233746 (UMLS CUI [1])

occipitoparietal abnormality

Item

Imaging: Prominent occipitoparietal abnormality (especially in functional imaging) with relative recess of frontal and mesiotemporal regions

boolean

C1704258 (UMLS CUI [1,1])
C1184145 (UMLS CUI [1,2])
C0442030 (UMLS CUI [1,3])

Vascular dementia

Item Group

Vascular dementia

C0011269 (UMLS CUI-1)

VD diagnoses

Item

Is the patient currently diagnosed with VD according to the criteria of NINDS/AIREN (Roman et al. 1993?)

boolean

C0011269 (UMLS CUI [1])

cognitive impairment

Item

I. Dementia Cognitive impairment regarding previous higher functional status manifested by disturbance of memory

boolean

C0009241 (UMLS CUI [1])
C0233794 (UMLS CUI [2])

orientation

Item

Orientation

boolean

C0029266 (UMLS CUI [1])

attention

Item

Attention

boolean

C0004268 (UMLS CUI [1])

speech

Item

Speech

boolean

C0037817 (UMLS CUI [1])

spatial visualization ability

Item

Spatial visualization ability

boolean

C0679024 (UMLS CUI [1])

ability to judge

Item

Ability to judge

boolean

C0022423 (UMLS CUI [1])

action ability

Item

Action ability

boolean

C1820715 (UMLS CUI [1])

abstraction ability

Item

Abstraction ability

boolean

C0679195 (UMLS CUI [1])

motor control

Item

Motor control

boolean

C0517961 (UMLS CUI [1])

praxia

Item

Praxia

boolean

C0871470 (UMLS CUI [1,1])
C0234621 (UMLS CUI [1,2])

everyday activities

Item

Activities of daily living

boolean

C0001288 (UMLS CUI [1])

disturbed consciousness

Item

Exclusion criteria Disturbed consciousness

boolean

C0549249 (UMLS CUI [1])

delirium

Item

Delirium

boolean

C0011206 (UMLS CUI [1])

psychosis

Item

Psychosis

boolean

C0033975 (UMLS CUI [1])

severe aphasia

Item

Severe aphasia

boolean

C0003537 (UMLS CUI [1,1])
C0205082 (UMLS CUI [1,2])

sensomotoric disorder

Item

Prominent sensomotoric disorder, which makes testing impossible

boolean

C0036675 (UMLS CUI [1])

systemic or other brain diseases

Item

Systemic or other brain diseases, that can cause cognitive disorders for their part

boolean

C2874347 (UMLS CUI [1])

cerebrovascular disease

Item

II. Cerebrovascular disease Central focal neurological signs with or without anamnestic stroke and signs of relevant cerebrovascular disease in CT/MRT

boolean

C1392298 (UMLS CUI [1])
C0038454 (UMLS CUI [2])
C0007820 (UMLS CUI [3])

bilateral artery cerebri anterior

Item

A. cerebri anterior, bilateral

boolean

C0149561 (UMLS CUI [1,1])
C0238767 (UMLS CUI [1,2])

anterior cerebral artery

Item

A. cerebri anterior

boolean

C0149561 (UMLS CUI [1])

parietotemporal or temporoparietal association complex

Item

Parietotemporal or temporoparietal association complex

boolean

C3498498 (UMLS CUI [1])
C3495412 (UMLS CUI [2])

watershed infarction

Item

Superiore frontale and parietal watershed zone

boolean

C0333557 (UMLS CUI [1])

basal ganglia and frontal lacuna of white matter

Item

Disease of small vessels: Basal ganglia and frontal lacuna of white matter

boolean

C0152295 (UMLS CUI [1,1])
C1459585 (UMLS CUI [1,2])
C0004781 (UMLS CUI [1,3])
C0152295 (UMLS CUI [2,1])
C1459585 (UMLS CUI [2,2])
C0016733 (UMLS CUI [2,3])

periventricular white matter lesions

Item

Broad periventricular white matter lesions

boolean

C2675929 (UMLS CUI [1,1])
C0228157 (UMLS CUI [1,2])

bilateral thalamus lesions

Item

Bilateral thalamus lesions

boolean

C2026261 (UMLS CUI [1,1])
C0238767 (UMLS CUI [1,2])

great vessel lesions

Item

Severity: great vessel lesions in dominant hemisphere

boolean

C0221198 (UMLS CUI [1,1])
C3641002 (UMLS CUI [1,2])
C0228465 (UMLS CUI [1,3])
C1527180 (UMLS CUI [1,4])

bilateral lesions of great vessel

Item

Bilateral lesions of great vessel in hemisphere

boolean

C0221198 (UMLS CUI [1,1])
C3641002 (UMLS CUI [1,2])
C0228465 (UMLS CUI [1,3])
C0238767 (UMLS CUI [1,4])

leukoencephalopathy

Item

Leukoencephalopathy => 25% of white matter

boolean

C0023524 (UMLS CUI [1])

onset of dementia

Item

III. Combination of I. and II. Onset of dementia within three months after stroke

boolean

C0011269 (UMLS CUI [1,1])
C0332162 (UMLS CUI [1,2])

abrupt degeneration of cognitive functions

Item

Abrupt degeneration of cognitive functions

boolean

C0338656 (UMLS CUI [1,1])
C1276802 (UMLS CUI [1,2])

progression of cognitive deficits

Item

Fluctuating or gradual progression of cognitive deficits

boolean

C1854645 (UMLS CUI [1,1])
C0338656 (UMLS CUI [1,2])
C0338656 (UMLS CUI [2,1])
C0231241 (UMLS CUI [2,2])

gait disturbance

Item

Supporting Symptoms: Early occuring gait disturbance

boolean

C1856566 (UMLS CUI [1,1])
C0596473 (UMLS CUI [1,2])

motoric instability and frequent support

Item

Motoric instability and frequent support

boolean

C0260026 (UMLS CUI [1])
C2197383 (UMLS CUI [2])

bladder problem

Item

Bladder problem (frequent urge to urinate, not urological explainable)

boolean

C0579152 (UMLS CUI [1])

pseudobulbar paralysis

Item

Pseudobulbar paralysis

boolean

C1390905 (UMLS CUI [1])

personality disorder or mood alteration

Item

Personality disorder or mood alteration

boolean

C0031212 (UMLS CUI [1])
C2939186 (UMLS CUI [2])

abulia

Item

Abulia

boolean

C0919974 (UMLS CUI [1])

depression

Item

Depression

boolean

C0011581 (UMLS CUI [1])

emotional incontinence

Item

Emotional incontinence

boolean

C1142234 (UMLS CUI [1])

other subcortical deficits

Item

Other subcortical deficits

boolean

C2987487 (UMLS CUI [1,1])
C0815275 (UMLS CUI [1,2])
C0205394 (UMLS CUI [1,3])

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DESCRIBE (DZNE – Clinical Register Study of neurodegenerative Disorders) CRF Diagnostic Criteria

CRF Diagnostic Criteria

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