Contributions of the neurological examination to the diagnosis of dementia in Down syndrome

Early diagnosis of dementia enables early intervention and gives people the opportunity to make choices and plan for their future. Such an early diagnosis requires accurate assessment. A clinical assessment in people with suspected dementia in a memory clinic setting should include a clinical interview of the patient and their next of kin, a physical and neurological examination, cognitive assessment with appropriate cognitive tests, blood investigations, ECG (electrocardiography), and brain imaging.

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Visual evoked potential in the diagnosis of dementia in people with down syndrome

International Journal of Geriatric Psychiatry ◽

10.1002/gps.930090606 ◽

1994 ◽

Vol 9 (6) ◽

pp. 473-478 ◽

Cited By ~ 4

Author(s):

V. P. Prasher ◽

V. H. R. Krishnan ◽

A. Blake ◽

D. J. Clarke ◽

J. A. Corbett

Keyword(s):

Down Syndrome ◽

Visual Evoked Potential ◽

Evoked Potential ◽

Diagnosis Of Dementia ◽

Visual Evoked

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Serum NGAL is Associated with Distinct Plasma Amyloid-β Peptides According to the Clinical Diagnosis of Dementia in Down Syndrome

Journal of Alzheimer s Disease ◽

10.3233/jad-142514 ◽

2015 ◽

Vol 45 (3) ◽

pp. 733-743 ◽

Cited By ~ 9

Author(s):

Petrus J.W. Naudé ◽

Alain D. Dekker ◽

Antonia M.W. Coppus ◽

Yannick Vermeiren ◽

Ulrich L.M. Eisel ◽

...

Keyword(s):

Down Syndrome ◽

Clinical Diagnosis ◽

Amyloid Β ◽

Diagnosis Of Dementia

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Comparison of resting-state EEG between adults with Down syndrome and typically developing controls

Journal of Neurodevelopmental Disorders ◽

10.1186/s11689-021-09392-z ◽

2021 ◽

Vol 13 (1) ◽

Author(s):

Sarah Hamburg ◽

Daniel Bush ◽

Andre Strydom ◽

Carla M. Startin

Keyword(s):

Down Syndrome ◽

Cognitive Decline ◽

Resting State ◽

Peak Frequency ◽

Peak Amplitude ◽

Typically Developing ◽

Eyes Closed ◽

Eeg Spectrum ◽

Beta Power ◽

Diagnosis Of Dementia

Abstract Background Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) worldwide. Understanding electrophysiological characteristics associated with DS provides potential mechanistic insights into ID, helping inform biomarkers and targets for intervention. Currently, electrophysiological characteristics associated with DS remain unclear due to methodological differences between studies and inadequate controls for cognitive decline as a potential cofounder. Methods Eyes-closed resting-state EEG measures (specifically delta, theta, alpha, and beta absolute and relative powers, and alpha peak amplitude, frequency and frequency variance) in occipital and frontal regions were compared between adults with DS (with no diagnosis of dementia or evidence of cognitive decline) and typically developing (TD) matched controls (n = 25 per group). Results We report an overall ‘slower’ EEG spectrum, characterised by higher delta and theta power, and lower alpha and beta power, for both regions in people with DS. Alpha activity in particular showed strong group differences, including lower power, lower peak amplitude and greater peak frequency variance in people with DS. Conclusions Such EEG ‘slowing’ has previously been associated with cognitive decline in both DS and TD populations. These findings indicate the potential existence of a universal EEG signature of cognitive impairment, regardless of origin (neurodevelopmental or neurodegenerative), warranting further exploration.

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A Novel Framework to Measure Executive Function in Down Syndrome With Applications for Early Clinical Diagnosis of Dementia

American Journal on Intellectual and Developmental Disabilities ◽

10.1352/1944-7558-124.4.354 ◽

2019 ◽

Vol 124 (4) ◽

pp. 354-373 ◽

Cited By ~ 1

Author(s):

Elizabeth Smith ◽

Craig Hedge ◽

Christopher Jarrold

Keyword(s):

Down Syndrome ◽

Executive Function ◽

Clinical Diagnosis ◽

Memory Load ◽

Reaction Times ◽

Typically Developing ◽

Good Test ◽

Diagnosis Of Dementia ◽

Core Components ◽

Test Retest Reliability

Abstract Executive function (EF) decline is a consistent early sign of Alzheimer's disease (AD) among adults with Down syndrome (DS), which means that baseline measures of EF for individuals with DS are vital to allow detection of meaningful decline. We developed a framework to extract measures of three core components of EF (memory updating, inhibitory, and temporal components) within one task. Increases in memory load, inhibitory load, and temporal demands led to significant increases in reaction times and significant decreases in accuracy among 18 adults with DS and 18 typically developing matched individuals; thus, the expected effects of all three manipulations were detected. Good test-retest reliability indicated that this framework has the potential to provide a simple, baseline EF measure for individuals with DS.

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Blood Biomarkers for Alzheimer’s Disease in Down Syndrome

Journal of Clinical Medicine ◽

10.3390/jcm10163639 ◽

2021 ◽

Vol 10 (16) ◽

pp. 3639

Author(s):

Laia Montoliu-Gaya ◽

Andre Strydom ◽

Kaj Blennow ◽

Henrik Zetterberg ◽

Nicholas James Ashton

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Down Syndrome ◽

Amyloid Β ◽

Detection Methods ◽

Blood Biomarkers ◽

Neurofilament Light Chain ◽

Neurofilament Light ◽

Positron Emission ◽

Diagnosis Of Dementia

Epidemiological evidence suggests that by the age of 40 years, all individuals with Down syndrome (DS) have Alzheimer’s disease (AD) neuropathology. Clinical diagnosis of dementia by cognitive assessment is complex in these patients due to the pre-existing and varying intellectual disability, which may mask subtle declines in cognitive functioning. Cerebrospinal fluid (CSF) and positron emission tomography (PET) biomarkers, although accurate, are expensive, invasive, and particularly challenging in such a vulnerable population. The advances in ultra-sensitive detection methods have highlighted blood biomarkers as a valuable and realistic tool for AD diagnosis. Studies with DS patients have proven the potential blood-based biomarkers for sporadic AD (amyloid-β, tau, phosphorylated tau, and neurofilament light chain) to be useful in this population. In addition, biomarkers related to other pathologies that could aggravate dementia progression—such as inflammatory dysregulation, energetic imbalance, or oxidative stress—have been explored. This review serves to provide a brief overview of the main findings from the limited neuroimaging and CSF studies, outline the current state of blood biomarkers to diagnose AD in patients with DS, discuss possible past limitations of the research, and suggest considerations for developing and validating blood-based biomarkers in the future.

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