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

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 Beha...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 188; no. 4; pp. 1056 - 1064
Main Authors:	Dang Do, An N., Thurm, Audrey E., Farmer, Cristan A., Soldatos, Ariane G., Chlebowski, Colby E., O'Reilly, Julie K., Porter, Forbes D.
Format:	Journal Article
Language:	English
Published:	Hoboken, USA John Wiley & Sons, Inc 01-04-2022 Wiley Subscription Services, Inc
Subjects:	adaptive behavior Adolescent Adult batten Child Cognition Cohort Studies Cross-Sectional Studies Female Generalized linear models Humans Male Membrane Glycoproteins Molecular Chaperones natural history Neurodevelopmental disorders Neuronal ceroid lipofuscinosis Neuronal Ceroid-Lipofuscinoses - diagnosis Neuronal Ceroid-Lipofuscinoses - genetics Neuropsychological Tests Prospective Studies Sensitivity analysis Standard scores Young Adult batten natural history adaptive behavior
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Summary:	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.
Bibliography:	Funding information Eunice Kennedy Shriver National Institute of Child Health and Human Development, Grant/Award Number: ZIA HD008989; National Institute of Mental Health, Grant/Award Number: 1ZICMH002961 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Undefined-3 Authors Contributions ADD, AET, FDP conceptualized the study. ADD, AET, AGS, CEC, JKO performed the study and collected the data. ADD, AET, CAF analyzed and interpreted the data. ADD, CAF, AET drafted the manuscript. ADD, AET and FDP supervised and secured funding. All authors revised and approved the manuscript for submission.
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.62607