Javier García-Alba, Elisa M Molanes-López, Pilar Zuluaga, Cristina Bell-Fenellos, Lucía Vaquero, Eva Alfayate, Felipe García, Gloria Mateo, Fernando Modenhauer, José M Galván-Román, Ricardo Bajo, Alberto Fernández
{"title":"唐氏综合征患者无症状和前驱阿尔茨海默病的认知标志物：与脑容量变化的相关性","authors":"Javier García-Alba, Elisa M Molanes-López, Pilar Zuluaga, Cristina Bell-Fenellos, Lucía Vaquero, Eva Alfayate, Felipe García, Gloria Mateo, Fernando Modenhauer, José M Galván-Román, Ricardo Bajo, Alberto Fernández","doi":"10.1002/dad2.70084","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Motivated by the difficulties in detecting cognitive deterioration in the context of Down syndrome (DS), we aimed to identify markers of prodromal Alzheimer's disease (AD) in this population.</p><p><strong>Methods: </strong>Sixty-two participants with DS (age > 45) distributed in three groups (asymptomatic [A<sub>DS</sub>], prodromal [P<sub>DS</sub>], and dementia [D<sub>DS</sub>]) completed the Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities, Cambridge Cognitive Examination for older adults with Down's Syndrome, and Barcelona Test for Intellectual Disability tests and a magnetic resonance imaging scan.</p><p><strong>Results: </strong>Although temporal orientation showed significant differences among groups, only a predictive diagnostic model based on verbal short-term memory tasks (relying on \"cued\" recall) allowed the correct classification of 88.5% of A<sub>DS</sub>, 75.0% of P<sub>DS</sub>, and 95% of D<sub>DS</sub> individuals. Cognitive decline strongly correlated with brain volume reductions in orbitofrontal, medial-temporal, and bilateral thalamus within the D<sub>DS</sub> group.</p><p><strong>Discussion: </strong>Neuropsychological results showed that P<sub>DS</sub> cases were characterized by a significant deterioration of verbal memory and temporal orientation, compared to A<sub>DS</sub>. This pattern might be crucial to support diagnosis in clinical settings.<b>Highlights:</b> Detecting signs of prodromal dementia is a major challenge in Down syndrome.Such challenge is due to a poor definition of the early cognitive manifestations.Memory tasks relying on \"cued\" recall allowed the detection of prodromal cases.A pattern of temporal disorientation was also evident in the prodromal phase.These cognitive deficits preceded volumetric brain changes only present in dementia.</p>","PeriodicalId":53226,"journal":{"name":"Alzheimer''s and Dementia: Diagnosis, Assessment and Disease Monitoring","volume":"17 1","pages":"e70084"},"PeriodicalIF":4.0000,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812121/pdf/","citationCount":"0","resultStr":"{\"title\":\"Cognitive markers for the distinction between asymptomatic and prodromal Alzheimer's disease in Down syndrome: Correlations with volumetric brain changes.\",\"authors\":\"Javier García-Alba, Elisa M Molanes-López, Pilar Zuluaga, Cristina Bell-Fenellos, Lucía Vaquero, Eva Alfayate, Felipe García, Gloria Mateo, Fernando Modenhauer, José M Galván-Román, Ricardo Bajo, Alberto Fernández\",\"doi\":\"10.1002/dad2.70084\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Motivated by the difficulties in detecting cognitive deterioration in the context of Down syndrome (DS), we aimed to identify markers of prodromal Alzheimer's disease (AD) in this population.</p><p><strong>Methods: </strong>Sixty-two participants with DS (age > 45) distributed in three groups (asymptomatic [A<sub>DS</sub>], prodromal [P<sub>DS</sub>], and dementia [D<sub>DS</sub>]) completed the Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities, Cambridge Cognitive Examination for older adults with Down's Syndrome, and Barcelona Test for Intellectual Disability tests and a magnetic resonance imaging scan.</p><p><strong>Results: </strong>Although temporal orientation showed significant differences among groups, only a predictive diagnostic model based on verbal short-term memory tasks (relying on \\\"cued\\\" recall) allowed the correct classification of 88.5% of A<sub>DS</sub>, 75.0% of P<sub>DS</sub>, and 95% of D<sub>DS</sub> individuals. Cognitive decline strongly correlated with brain volume reductions in orbitofrontal, medial-temporal, and bilateral thalamus within the D<sub>DS</sub> group.</p><p><strong>Discussion: </strong>Neuropsychological results showed that P<sub>DS</sub> cases were characterized by a significant deterioration of verbal memory and temporal orientation, compared to A<sub>DS</sub>. 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Cognitive markers for the distinction between asymptomatic and prodromal Alzheimer's disease in Down syndrome: Correlations with volumetric brain changes.
Introduction: Motivated by the difficulties in detecting cognitive deterioration in the context of Down syndrome (DS), we aimed to identify markers of prodromal Alzheimer's disease (AD) in this population.
Methods: Sixty-two participants with DS (age > 45) distributed in three groups (asymptomatic [ADS], prodromal [PDS], and dementia [DDS]) completed the Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities, Cambridge Cognitive Examination for older adults with Down's Syndrome, and Barcelona Test for Intellectual Disability tests and a magnetic resonance imaging scan.
Results: Although temporal orientation showed significant differences among groups, only a predictive diagnostic model based on verbal short-term memory tasks (relying on "cued" recall) allowed the correct classification of 88.5% of ADS, 75.0% of PDS, and 95% of DDS individuals. Cognitive decline strongly correlated with brain volume reductions in orbitofrontal, medial-temporal, and bilateral thalamus within the DDS group.
Discussion: Neuropsychological results showed that PDS cases were characterized by a significant deterioration of verbal memory and temporal orientation, compared to ADS. This pattern might be crucial to support diagnosis in clinical settings.Highlights: Detecting signs of prodromal dementia is a major challenge in Down syndrome.Such challenge is due to a poor definition of the early cognitive manifestations.Memory tasks relying on "cued" recall allowed the detection of prodromal cases.A pattern of temporal disorientation was also evident in the prodromal phase.These cognitive deficits preceded volumetric brain changes only present in dementia.
期刊介绍：
Alzheimer''s & Dementia: Diagnosis, Assessment & Disease Monitoring (DADM) is an open access, peer-reviewed, journal from the Alzheimer''s Association® that will publish new research that reports the discovery, development and validation of instruments, technologies, algorithms, and innovative processes. Papers will cover a range of topics interested in the early and accurate detection of individuals with memory complaints and/or among asymptomatic individuals at elevated risk for various forms of memory disorders. The expectation for published papers will be to translate fundamental knowledge about the neurobiology of the disease into practical reports that describe both the conceptual and methodological aspects of the submitted scientific inquiry. Published topics will explore the development of biomarkers, surrogate markers, and conceptual/methodological challenges. Publication priority will be given to papers that 1) describe putative surrogate markers that accurately track disease progression, 2) biomarkers that fulfill international regulatory requirements, 3) reports from large, well-characterized population-based cohorts that comprise the heterogeneity and diversity of asymptomatic individuals and 4) algorithmic development that considers multi-marker arrays (e.g., integrated-omics, genetics, biofluids, imaging, etc.) and advanced computational analytics and technologies.
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