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Brain Sciences
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Down Syndrome: Pathophysiology, Cognitive Assessments and Potential Therapies
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Down Syndrome: Pathophysiology, Cognitive Assessments and Potential Therapies

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Developmental Neuroscience".

Deadline for manuscript submissions: closed (31 August 2024) | Viewed by 5747

Special Issue Editor

Prof. Dr. Alberto Costa

E-Mail Website
Guest Editor
Department Psychiatry, Case Western Reserve University, Cleveland, OH 44106, USA
Interests: down syndrome; neurophysiology; neuropsychology; preclinical research; clinical research
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In this Special Issue of Brain Sciences, we will be discussing the general topic of Down Syndrome: Pathophysiology, Cognitive Assessments and Potential Therapies. We aim to highlight critical areas of translational and clinical brain research that may one day lead to the discovery of pharmacological/genetic ways of addressing the neurodevelopmental and neurodegenerative processes, associated with the trisomy of chromosome 21 (trisomy 21). We will welcome articles describing system-specific neuropsychological deficits and neurological and psychiatric disorders commonly found in persons with Down syndrome, new experimental data (collected from human beings and animal models) and reviews on the neurobiology and neuropharmacology of Down syndrome, and critical reviews on the design and conduct of clinical trials in this field. We hope we can count on your valuable contribution to make this a successful and impactful Special Issue for this journal.

Prof. Dr. Alberto Costa
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Down syndrome
  • neuropsychology
  • neurophysiology
  • neurobiology
  • genetics
  • neuropharmacology
  • clinical trials

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Published Papers (4 papers)

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Research

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16 pages, 2873 KiB  
Article
Mitochondrial Dysfunction Correlates with Brain Amyloid Binding, Memory, and Executive Function in Down Syndrome: Implications for Alzheimer’s Disease in Down Syndrome
by Jessica A. Beresford-Webb, Catherine J. McAllister, Alison Sleigh, Madeleine J. Walpert, Anthony J. Holland and Shahid H. Zaman
Brain Sci. 2025, 15(2), 130; https://doi.org/10.3390/brainsci15020130 - 28 Jan 2025
Cited by 1 | Viewed by 1066
Abstract
Background/Objectives: Mitochondrial dysfunction is increasingly recognized as a central contributor to neurodegenerative diseases and age-related cognitive decline. Individuals with Down syndrome (DS) are at high risk of neurodegeneration due to Alzheimer’s disease (AD). This study aims to explore the relationship between mitochondrial dysfunction, [...] Read more.
Background/Objectives: Mitochondrial dysfunction is increasingly recognized as a central contributor to neurodegenerative diseases and age-related cognitive decline. Individuals with Down syndrome (DS) are at high risk of neurodegeneration due to Alzheimer’s disease (AD). This study aims to explore the relationship between mitochondrial dysfunction, brain amyloid-beta (Aβ) deposition, and cognitive decline in this population. Methods: We investigated mitochondrial function, brain amyloid-beta burden, and cognitive performance in a pilot study of a cohort of 10 eligible adults with DS selected from a sample of 28 individuals with DS. Phosphorus-31 magnetic resonance spectroscopy (31P-MRS) was used to assess mitochondrial function in skeletal muscle using a post-exercise paradigm, while positron emission tomography using 11C-Pittsburgh compound B (PiB-PET) measured brain Aβ deposition. Cognitive performance was evaluated using the Cambridge Cognitive Examination adapted for individuals with Down syndrome (CAMCOG-DS) and executive function batteries. Results: Significant correlations were observed between slowed phosphocreatine (PCr) recovery in muscle and increased Aβ deposition in key brain regions, particularly the striatum. Cognitive performance inversely correlated with mitochondrial function, with pronounced deficits in memory and executive function tasks. Notably, an individual carrying the APOE-ε4 allele exhibited the poorest mitochondrial function, highest Aβ burden, and most severe cognitive impairment, suggesting a potential interaction between genetic risk and mitochondrial health. Conclusions: These findings highlight the role of mitochondrial dysfunction in DS-associated AD (DSAD) and its impact on cognition in adults. The results support targeting mitochondrial pathways as a potential therapeutic strategy to mitigate AD progression in DS populations. Further research with larger cohorts and longitudinal designs is needed to clarify causative mechanisms and develop effective interventions. Full article
(This article belongs to the Special Issue Down Syndrome: Pathophysiology, Cognitive Assessments and Potential Therapies)
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12 pages, 1193 KiB  
Article
Assessing the Relationship of Brain Metabolites to Cortical Thickness and Dementia Symptoms in Adults with Down Syndrome: A Pilot Study
by Katherine A. Koenig and Pallab K. Bhattacharyya
Brain Sci. 2024, 14(12), 1241; https://doi.org/10.3390/brainsci14121241 - 11 Dec 2024
Viewed by 873
Abstract
Background/Objectives: Those with the genetic disorder Down syndrome are at high risk of developing Alzheimer’s disease. Previous work shows group differences in magnetic resonance spectroscopy metabolite measures in adults with Down syndrome who have Alzheimer’s disease-related dementia compared to those who do not. [...] Read more.
Background/Objectives: Those with the genetic disorder Down syndrome are at high risk of developing Alzheimer’s disease. Previous work shows group differences in magnetic resonance spectroscopy metabolite measures in adults with Down syndrome who have Alzheimer’s disease-related dementia compared to those who do not. In this pilot study, we assess relationships between metabolites and measures related to dementia status in a sample of adults with Down syndrome. Methods: Seventeen adults with Down syndrome were scanned using a 3 tesla MRI scanner. Magnetic resonance spectroscopy scans focused on the hippocampus and dorsal lateral prefrontal cortex. Metabolites of interest, including myo-inositol and N-acetyl-aspartate, were correlated with scores on the Dementia Questionnaire for People with Learning Disabilities, cortical thickness, and a measure of cognitive ability. In addition, cortical thickness was compared to an age- and sex-matched cohort of 17 previously scanned adults without Down syndrome. Results: Metabolite measures were not significantly related to cognitive/behavioral measures or to cortical thickness in this small cohort. Participants with Down syndrome showed widespread increases in cortical thickness compared to controls, even after accounting for potential differences in grey matter/white matter contrast. Conclusions: Metabolite values were not related to two continuous measures that have previously been associated with dementia status in those with Down syndrome. Full article
(This article belongs to the Special Issue Down Syndrome: Pathophysiology, Cognitive Assessments and Potential Therapies)
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21 pages, 2274 KiB  
Article
Category-Based Effect on False Memory of People with Down Syndrome
by Ching-Fen Hsu, Qian Jiang and Shi-Yu Rao
Brain Sci. 2024, 14(6), 538; https://doi.org/10.3390/brainsci14060538 - 24 May 2024
Viewed by 1021
Abstract
Background: People with Down syndrome (DS) are deficient in verbal memory but relatively preserved in visuospatial perception. Verbal memories are related to semantic knowledge. Receptive ability is better than expressive ability in people with DS but still seriously lags behind their age-matched [...] Read more.
Background: People with Down syndrome (DS) are deficient in verbal memory but relatively preserved in visuospatial perception. Verbal memories are related to semantic knowledge. Receptive ability is better than expressive ability in people with DS but still seriously lags behind their age-matched controls. This lag may result in the weak semantic integration of people with DS. Aims: This study aimed to examine the ability of semantic integration of people with DS by using false-memory tasks. Possible differences in the number of false memories induced by nouns and verbs were of focus. Methods and Procedures: Two phases were involved in the false-memory task. In the study phase, ten-word lists with semantically related associates were presented. In the recognition phase, judgments were to be made about whether the words presented had been heard before. Three types of words were tested: previously presented associates, semantically related lures, and semantically unrelated new words. Outcomes and Results: People with DS overall showed the lowest accuracy among groups in response to tested word types. In the processing of lures, people with DS were worse in recognition than MA controls. In processing unrelated words, people with DS responded least accurately to all types of words compared to control groups. In the processing of associates, people with DS showed similar recognition rates as the MA controls but were less accurate than the CA controls. No difference was observed between nouns and verbs in recognizing word types among groups, though faster responses to nouns than to verbs emerged in college students. Further analyses on topic-wised comparisons of errors across syntactic categories revealed differences in specific concepts among groups, suggesting people with DS were atypical in semantic organization. Conclusions and Implications: People with DS showed mixed patterns in semantic integration by false-memory tasks with delay to associates and deviance to lures together with unrelated words. People with DS showed distinct patterns in processing nouns and verbs while conducting topic-wise comparisons, suggesting that they formed false memories differently based on distinct syntactic categories. We concluded that people with DS develop a deviant semantic structure, hence showing problems in language and social cognition. Category-based rehabilitation is suggested to be implemented for people with DS to improve their semantic knowledge through lexical connections. Full article
(This article belongs to the Special Issue Down Syndrome: Pathophysiology, Cognitive Assessments and Potential Therapies)
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Review

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20 pages, 1676 KiB  
Review
On the Therapeutic Use of Monoclonal Antibodies Against Amyloid Plaques in Older Adults with Down Syndrome: A Narrative Review and Perspective
by Alberto C. S. Costa
Brain Sci. 2024, 14(11), 1084; https://doi.org/10.3390/brainsci14111084 - 29 Oct 2024
Cited by 1 | Viewed by 1859
Abstract
Down syndrome (DS) is a genetic disorder caused by an extra copy of chromosome 21 (trisomy 21 or T21) and is associated with an increased risk of early-onset Alzheimer’s disease (AD), also known as DS-associated AD (DSAD). Individuals with DS typically develop amyloid [...] Read more.
Down syndrome (DS) is a genetic disorder caused by an extra copy of chromosome 21 (trisomy 21 or T21) and is associated with an increased risk of early-onset Alzheimer’s disease (AD), also known as DS-associated AD (DSAD). Individuals with DS typically develop amyloid neuropathology in their late-thirties to early-forties and the mean age of onset of clinical dementia is approximately 55 years. Recent advances in AD clinical research have focused on monoclonal antibodies (mAbs) targeting amyloid-β (Aβ) plaques as a potential therapeutic approach. Therefore, there has been guarded enthusiasm about using anti-amyloid mAbs in the prevention/treatment of DSAD. This narrative review and perspective explores the current understanding of amyloid pathology in AD and DSAD, the rationale for using anti-amyloid mAbs in the treatment of DSAD, and the challenges and opportunities for research toward the application of this therapeutic strategy to older adults with DS. Full article
(This article belongs to the Special Issue Down Syndrome: Pathophysiology, Cognitive Assessments and Potential Therapies)
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