Hampus Hillerstrom, Amit Das, Matthew P. Janicki, Natalia S. Rozas, Stephanie L. Santoro
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This study aimed to explore perceptions of these issues.</p>\n </section>\n \n <section>\n \n <h3> METHOD</h3>\n \n <p>An international survey of 42 clinicians and researchers specializing in DS-AD gathered perspectives on instruments, symptomatic staging, clinical practices, and research priorities.</p>\n </section>\n \n <section>\n \n <h3> RESULTS</h3>\n \n <p>Respondents noted that key domains of impairment in mild cognitive impairment in Down syndrome and DS-AD dementia included memory, executive functioning, personality, social behavior, attention, mood, and language. Among the 10 assessment tools evaluated, informant-based interviews were noted as critical for individuals with severe intellectual disability (ID), while direct assessments were noted as useful for those with mild to moderate ID. Common diagnostic confounders like hypothyroidism and sleep disorders were identified.</p>\n </section>\n \n <section>\n \n <h3> DISCUSSION</h3>\n \n <p>Behavioral assessments provide a valuable function; however, future efforts should integrate behavioral assessments with biomarkers and develop standardized staging frameworks to improve diagnostic reliability, care planning, and treatment strategies for DS-AD.</p>\n </section>\n \n <section>\n \n <h3> Highlights</h3>\n \n <div>\n <ul>\n \n <li>Personality, social behavior, language, mood/affect, memory, executive functioning, and attention are recognized as key domains of impairment in both mild cognitive impairment in Down syndrome (MCI-DS) and Down syndrome–associated Alzheimer's disease (DS-AD).</li>\n \n <li>Ten prominent informant and direct assessment tools were noted as appropriate for individuals with DS and mild to moderate intellectual disability (ID) for identifying both MCI-DS and DS-AD; however, for individuals with severe/profound ID, there was less assurance of applicability.</li>\n \n <li>Harmonizing recommended tools in a standardized list was identified as a strategy to promote consistency across clinical and research contexts.</li>\n </ul>\n </div>\n </section>\n </div>","PeriodicalId":7471,"journal":{"name":"Alzheimer's & Dementia","volume":"21 9","pages":""},"PeriodicalIF":11.1000,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://alz-journals.onlinelibrary.wiley.com/doi/epdf/10.1002/alz.70356","citationCount":"0","resultStr":"{\"title\":\"Specialists’ perceptions of clinical instruments, practices, and staging of DS-AD: Results from an international survey\",\"authors\":\"Hampus Hillerstrom, Amit Das, Matthew P. 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Specialists’ perceptions of clinical instruments, practices, and staging of DS-AD: Results from an international survey
INTRODUCTION
Diagnosing and staging Down syndrome–associated Alzheimer's disease (DS-AD) is hindered by the lack of standardized criteria, complicating clinical decision making, trial participation, and access to advanced therapies. This study aimed to explore perceptions of these issues.
METHOD
An international survey of 42 clinicians and researchers specializing in DS-AD gathered perspectives on instruments, symptomatic staging, clinical practices, and research priorities.
RESULTS
Respondents noted that key domains of impairment in mild cognitive impairment in Down syndrome and DS-AD dementia included memory, executive functioning, personality, social behavior, attention, mood, and language. Among the 10 assessment tools evaluated, informant-based interviews were noted as critical for individuals with severe intellectual disability (ID), while direct assessments were noted as useful for those with mild to moderate ID. Common diagnostic confounders like hypothyroidism and sleep disorders were identified.
DISCUSSION
Behavioral assessments provide a valuable function; however, future efforts should integrate behavioral assessments with biomarkers and develop standardized staging frameworks to improve diagnostic reliability, care planning, and treatment strategies for DS-AD.
Highlights
Personality, social behavior, language, mood/affect, memory, executive functioning, and attention are recognized as key domains of impairment in both mild cognitive impairment in Down syndrome (MCI-DS) and Down syndrome–associated Alzheimer's disease (DS-AD).
Ten prominent informant and direct assessment tools were noted as appropriate for individuals with DS and mild to moderate intellectual disability (ID) for identifying both MCI-DS and DS-AD; however, for individuals with severe/profound ID, there was less assurance of applicability.
Harmonizing recommended tools in a standardized list was identified as a strategy to promote consistency across clinical and research contexts.
期刊介绍：
Alzheimer's & Dementia is a peer-reviewed journal that aims to bridge knowledge gaps in dementia research by covering the entire spectrum, from basic science to clinical trials to social and behavioral investigations. It provides a platform for rapid communication of new findings and ideas, optimal translation of research into practical applications, increasing knowledge across diverse disciplines for early detection, diagnosis, and intervention, and identifying promising new research directions. In July 2008, Alzheimer's & Dementia was accepted for indexing by MEDLINE, recognizing its scientific merit and contribution to Alzheimer's research.
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