Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)

Aim  The primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for a common disease‐causing deletion or compound heterozygous. The secondary aim was to cross‐validate the Chi...

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Published in:Developmental medicine and child neurology 2010-07, Vol.52 (7), p.637-643
Main Authors: ADAMS, HEATHER R, BECK, CHRISTOPHER A, LEVY, ERIKA, JORDAN, RACHEL, KWON, JENNIFER M, MARSHALL, FREDERICK J, VIERHILE, AMY, AUGUSTINE, ERIKA F, DE BLIECK, ELISABETH A, PEARCE, DAVID A, MINK, JONATHAN W
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aggression
Behavior Rating Scales
Check Lists
Child
Child Behavior
Child, Preschool
Cognitive Ability
Female
Genetics
Heterozygote
Homozygote
Humans
Interpersonal Competence
Interrater Reliability
Longitudinal Studies
Male
Membrane Glycoproteins - genetics
Mental Disorders - diagnosis
Mental Disorders - genetics
Molecular Chaperones - genetics
Neuronal Ceroid-Lipofuscinoses - diagnosis
Neuronal Ceroid-Lipofuscinoses - genetics
Phenotype
Psychiatric Status Rating Scales
Seizures
Sequence Deletion
Severity of Illness Index
Validity
Vision
Young Adult
Young Adults
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Summary:Aim  The primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for a common disease‐causing deletion or compound heterozygous. The secondary aim was to cross‐validate the Child Behavior Checklist (CBCL) and the Unified Batten Disease Rating Scale (UBDRS), a disease‐specific JNCL rating scale. Method  Sixty individuals (28 males, 32 females; mean age 15y 1mo, SD 4y 9mo, range 5y 8mo–31y 1mo) with JNCL completed the UBDRS. Results  No significant genotype and clinical phenotype differences were identified when comparing individuals homozygous for the deletion with a heterogeneous group of compound heterozygous individuals. There were significant correlations among related behaviour items and scales on the CBCL and UBDRS (Spearman’s rho ranging from 0.39 [p
ISSN:0012-1622
1469-8749
DOI:10.1111/j.1469-8749.2010.03628.x