Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.

This study examined the health-related quality of life (HRQoL) and psychological functioning of children and young adults with Gaucher disease, type 1 (GD1). Thirty-two (17 pediatric, 15 young adult) patients with GD1 and one parent completed age-appropriate assessments of HRQoL, emotional, and behavioral health. The HRQoL of children with GD1 was compared with a healthy sample and to children diagnosed with Fabry disease (FD; another lysosomal storage disease), while young adults were compared to a healthy sample and to patients with self-reported chronic illnesses. Children with GD1 reported significantly lower HRQoL across all domains relative to healthy counterparts yet comparable HRQoL compared to children with FD. Young adults reported mildly lower physical functioning than healthy peers, but no differences in HRQoL relative to the chronic illness sample. Parent-reported symptom severity was associated with poorer HRQOL in children but not young adults. Few group differences in psychological functioning were observed, except young children showed more school problems than the normative average and there was a trend toward internalizing symptoms. Overall, results consistently identified younger patients with GD1 as more affected than older patients in HRQoL and psychological domains. Implementation of psychosocial interventions may be particularly beneficial during early childhood.

White Matter Correlates of Cognitive Performance on the UCSF Brain Health Assessment.

OBJECTIVE: White matter (WM) microstructural changes are increasingly recognized as a mechanism of age-related cognitive differences. This study examined the associations between patterns of WM microstructure and cognitive performance on the University of California, San Francisco (UCSF) Brain Health Assessment (BHA) subtests of memory (Favorites), executive functions and speed (Match), and visuospatial skills (Line Orientation) within a sample of older adults. METHOD: Fractional anisotropy (FA) in WM tracts and BHA performance were examined in 84 older adults diagnosed as neurologically healthy (47), with mild cognitive impairment (19), or with dementia (18). The relationships between FA and subtest performances were evaluated using regression analyses. We then explored whether regional WM predicted performance after accounting for variance explained by global FA. RESULTS: Memory performance was associated with FA of the fornix and the superior cerebellar peduncle; and executive functions and speed, with the body of the corpus callosum. The fornix-memory association and the corpus callosum-executive association remained significant after accounting for global FA. Neither tract-based nor global FA was associated with visuospatial performance. CONCLUSIONS: Memory and executive functions are associated with different patterns of WM diffusivity. Findings add insight into WM alterations underlying age- and disease-related cognitive decline.

The Brain Health Assessment for Detecting and Diagnosing Neurocognitive Disorders.

BACKGROUND/OBJECTIVES: Brief cognitive screens lack the sensitivity to detect mild cognitive impairment (MCI) or support differential diagnoses. The objective of this study was to validate the 10-minute, tablet-based University of California, San Francisco (UCSF) Brain Health Assessment (BHA) to overcome these limitations. DESIGN: Cross-sectional. SETTING: UCSF Memory and Aging Center. PARTICIPANTS: Older adults (N = 347) (neurologically healthy controls (n = 185), and individuals diagnosed with MCI (n = 99), dementia (n = 42), and as normal with concerns (n = 21)). MEASUREMENTS: The BHA includes subtests of memory, executive function and speed, visuospatial skills, and language and an optional informant survey. Participants completed the Montreal Cognitive Assessment (MoCA) and criterion-standard neuropsychological tests. Standardized structural 3T brain magnetic resonance imaging was performed in 145 participants. RESULTS: At a fixed 85% specificity rate, the BHA had 100% sensitivity to dementia and 84% to MCI; the MoCA had 75% sensitivity to dementia and 25% to MCI. The BHA had 83% sensitivity to MCI likely due to AD and 88% to MCI unlikely due to AD, and the MoCA had 58% sensitivity to MCI likely AD and 24% to MCI unlikely AD. The BHA subtests demonstrated moderate to high correlations with the criterion-standard tests from their respective cognitive domains. Memory test performance correlated with medial temporal lobe volumes; executive and speed with frontal, parietal, and basal ganglia volumes; and visuospatial with right parietal volumes. CONCLUSION: The BHA had excellent combined sensitivity and specificity to detect dementia and MCI, including MCI due to diverse etiologies. The subtests provide efficient, valid measures of neurocognition that are critical in making a differential diagnosis.

Long-term test-retest reliability of the California Verbal Learning Test - second edition.

OBJECTIVE: Aging is often associated with declines in episodic memory. Reliable tracking of memory requires assessment instruments that are stable over time to better understand changes potentially attributable to neurodegenerative disease. While prior studies support the test-retest reliability of memory instruments over brief intervals, follow-up testing in clinical settings typically occurs at least one-year later. The present study evaluated the long-term test-retest reliability of the California Verbal Learning Test - second edition (CVLT-2), a widely used measure of episodic learning and memory. METHOD: One hundred and fifty seven healthy older adults (mean age = 68.47 years; education = 17.28 years) underwent repeat assessment at an average of 1.30 years apart. Participants underwent repeat assessment using either parallel or alternate forms at follow-up. We utilized a standardized regression-based (SRB) approach to determine statistically significant changes in test scores over time. RESULTS: This study revealed modest 1-year test-retest correlation coefficients for the primary CVLT-2 measures (range = .57-.69) Results of SRB formulae are provided to assist clinicians with defining clinically relevant cognitive change on the CVLT-2 while controlling for confounding factors. CONCLUSIONS: Findings from this study support repeat test administration of the CVLT-2 over longer periods, and may enhance its applicability in determining longitudinal change in memory performance.