Outcome Measures for Clinical Trials in Down Syndrome

Abstract

Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the NIH assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This paper focuses on measures in the areas of cognition and behavior.

The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects

“…No adequate individualized assessments of executive control were identified. Together, the findings from this study, d’Ardhuy et al (2015), and the NIH working group (Esbensen et al, this issue) can help to devise a gold standard protocol for future clinical trials in older children and young adults with DS. Although some researchers have also emphasized the importance of targeting interventions to younger children with DS (Edgin, Clark, Massand, & Karmiloff-Smith, 2015), to our knowledge, no investigations have been conducted to assess the psychometric characteristics of cognitive outcome measures specifically for younger children with DS.…”

“…This group determined that test-retest reliability estimates generated in the timeframes required to inform clinical trials were virtually nonexistent in DS (Esbensen et al, this issue). In the time since this working group met, one study has been published describing the psychometrics and usability of neuropsychological measures for clinical trials in this population (d’Ardhuy et al, 2015).…”

Sleep in Neurodevelopmental Disorders

“…In contrast, this study did replicate the relationship between sleep problems and attention among typically developing children. This finding may suggest that sleep does not have a significant impact on cognitive and executive functioning, or it may suggest the need for improved outcome measures of cognitive and executive functioning in order to adequately detect the impact of sleep problems on individuals with IDD (Esbensen et al, under review). …”

Links between sleep and daytime behaviour problems in children with Down syndrome

“…The Nisonger Child Behavior Rating Form (NCBRF) is currently recommended for use in children with Down syndrome for assessing comorbid behaviours of concern (Edgin et al, 2010). Both the NCBRF and the Vanderbilt ADHD Rating Scales are considered appropriate for children with intellectual and developmental disabilities (Esbensen et al, 2017). Currently, no measure of maladaptive behaviour has been evaluated specifically for its psychometric properties with children with Down syndrome (Esbensen et al, 2017).…”

“…Both the NCBRF and the Vanderbilt ADHD Rating Scales are considered appropriate for children with intellectual and developmental disabilities (Esbensen et al, 2017). Currently, no measure of maladaptive behaviour has been evaluated specifically for its psychometric properties with children with Down syndrome (Esbensen et al, 2017). …”