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Observational Study
. 2022 Apr;188(4):1056-1064.
doi: 10.1002/ajmg.a.62607. Epub 2021 Dec 16.

Use of the Vineland-3, a measure of adaptive functioning, in CLN3

An N Dang Do  1 , Audrey E Thurm  2 , Cristan A Farmer  2 , Ariane G Soldatos  3 , Colby E Chlebowski  2 , Julie K O'Reilly  2 , Forbes D Porter  1
Affiliations
Observational Study

Use of the Vineland-3, a measure of adaptive functioning, in CLN3

An N Dang Do et al. Am J Med Genet A. 2022 Apr.

Abstract

Progressive vision loss and neurocognitive impairment are early and frequent presentations in CLN3 disease. This highlights neurodevelopmental functioning as critical to the disease, but limits the neuropsychological test repertoire. We evaluated the convergent validity of the Vineland Adaptive Behavior Scales as a potential outcome measure. In a prospective observational study of 22 individuals (female:male 11:11; 6-20 years-old) with a molecular diagnosis of CLN3, we used generalized linear models and Spearman correlations to quantify the relationship of the adaptive behavior composite (ABC) standard score with established outcomes of verbal IQ (VIQ) and disease severity (Unified Batten Disease Rating Scale, UBDRS) scores. We analyzed ABC changes in 1-year follow-up data in a subset of the same cohort (n = 17). The ABC and VIQ, both standard scores, exhibited a strong positive correlation in cross-sectional data (r = 0.81). ABC and UBDRS scores were strongly and positively correlated in cross-sectional data (rrange = 0.87-0.93). Participants' ABC scores decreased slightly over the 1-year follow-up period (mean change, 95% CI: -5.23, -2.16). The convergent validity of the Vineland-3 for use in CLN3 is supported by its relationships with the established outcomes of VIQ and UBDRS. Future longitudinal research, including replication in other cohorts and evaluation of sensitivity to change, will be important to establish utility of the Vineland-3 for monitoring change in CLN3.

Trial registration: ClinicalTrials.gov NCT03307304.

Keywords: adaptive behavior; batten; natural history.

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Conflict of interest statement

Competing interest statement: An N. Dang Do, Audrey Thurm, Cristan Farmer, Ariane Soldatos, Colby Chlebowski, Julie O’Reilly, Forbes D. Porter declare that they have no conflict of interest in connection with this article.

Figures

Figure 1.
Figure 1.
Relationships of the Vineland-3 Adaptive Behavior Composite scores in CLN3 disease. ABC scores strongly correlate withestablished measures, VIQ (A) and UBDRS sub-domain scores (B-D) and. VIQ is a standard score; UBDRS scores are weighted. Circles: Participants with classic CLN3 phenotype. Squares: Participants with vision-only phenotype. Black line: linear regression. Shaded gray area: 95% CI. ABC: adaptive behavior composite. CGI: clinical global impression. UBDRS: Unified Batten Disease Rating Scale. VIQ: verbal intelligence quotient.
Figure 2.
Figure 2.
Adaptive behavior scores at baseline and 1-year follow-up in individuals with CLN3-related disorders. A. Cross-sectional relationship (baseline only) of Vineland-3 adaptive behavior composite and domain scores to age (n=20, excluding vision-only participants). Line: fitted curve for CLN3. Circles: individual data points. Shaded area: 95% CI. B. Model-estimated mean within-subject change over 1-year follow-up in Vineland-3 domain (standard) and subdomain (V-scale) scores (n=15, excluding vision-only participants). ABC: adaptive behavior composite. C. Within-subject change over 1-year follow-up in Vineland-3 growth scale values in CLN3 disease (n=15, excluding vision-only participants). Change scores were compared to the manual-based average SEM for each subdomain, and values that exceeded 2*SEM are shaded pink. D. Model-estimated mean within-subject change over 1-year follow-up in Vineland-3 growth scale values in CLN3 disease (n=15, excluding vision-only participants). Score of zero represents no change in ability; negative scores indicate a decrease in ability.
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