ArticleDevelopmental medicine and child neurology2010
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Article in Developmental medicine and child neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 24 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Psychiatric manifestations in Neuronal ceroid lipofuscinoses.Orphanet journal of rare diseases · 2026Pooled it
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.Orphanet journal of rare diseases · 2026Guideline
- A timeline of symptom onset and disease progression in CLN3 disease.Orphanet journal of rare diseases · 2026Review
- Impact of CLN3 Disease on Child Quality of Life and Family Function.Pediatric neurology · 2025Observational
- Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.Journal of inherited metabolic disease · 2025Article
- Phenotypic variability observed in a Chinese patient cohort with biallelic variants in theMolecular vision · 2024Article
- Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family.International journal of environmental research and public health · 2022Article
- Differential gene expression analysis following olfactory learning in honeybee (Apis mellifera L.).PloS one · 2022Article
- Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.Frontiers in neurology · 2022Review
- Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report.Frontiers in neurology · 2022Article
- Cellular models of Batten disease.Biochimica et biophysica acta. Molecular basis of disease · 2020Review
- The c.1A > C start codon mutation inJIMD reports · 2020Article
- Autophagic vacuolar myopathy is a common feature of CLN3 disease.Annals of clinical and translational neurology · 2018Article
- Article
- Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights.Degenerative neurological and neuromuscular disease · 2016Review
- Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.Developmental medicine and child neurology · 2015Article
- Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).Journal of child neurology · 2013Review
- Classification and natural history of the neuronal ceroid lipofuscinoses.Journal of child neurology · 2013Review
- Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.Contemporary clinical trials · 2013Article
- Reliability and validity of the Wolfram Unified Rating Scale (WURS).Orphanet journal of rare diseases · 2012Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
aimThe 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.
methodSixty individuals (28 males, 32 females; mean age 15y 1mo, SD 4y 9mo, range 5y 8mo--31y 1mo) with JNCL completed the UBDRS.
resultsNo 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<0.05] to 0.72 [p<0.01]). Behaviour and physical function ratings were uncorrelated, supporting divergent validity of these two constructs in JNCL.
interpretationPrevious reports of genotype and clinical phenotype differences were unsupported in this investigation, which did not find differences between individuals homozygous or heterozygous for the CLN3 deletion. The CBCL, an already validated measure of behaviour problems, appears valid for use in JNCL and cross-validates well with the UBDRS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.