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.