ArticleDevelopmental medicine and child neurology2016
Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.
Article in Developmental medicine and child neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Trial
- Comparative Hippocampal Proteome and Phosphoproteome in a Niemann-Pick, Type C1 Mouse Model Reveal Insights into Disease Mechanisms.Journal of proteome research · 2024Article
- Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.Frontiers in psychiatry · 2022Article
- International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.Orphanet journal of rare diseases · 2021Article
- Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.Orphanet journal of rare diseases · 2020Observational
- Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.American journal of medical genetics. Part A · 2020Article
- Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.Pediatric neurology · 2018Article
- Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.Journal of developmental and behavioral pediatrics : JDBPArticle
- Juvenile Onset Niemann-Pick Type C Disease with Refractory Seizures.Annals of Indian Academy of NeurologyArticle
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
aimTo describe the neurocognitive and adaptive behavior profile of children and adolescents with Niemann-Pick Disease type C1 (NPC1), a rare genetic disease that frequently presents in childhood, with variable onset and symptom complex involving neurodegeneration.
methodThirty-eight participants (20 males, 18 females; mean age 8y 10mo, SD 4y 8mo, range 1-18y) with NPC1 were evaluated through a natural history protocol.
resultsNPC1 severity was in the mild to moderate range for most participants. Cognitive scores (n=32) ranged from very low to above average; about half of the participants exhibited a clinically significant advantage of Verbal IQ over Non-verbal IQ. Adaptive behavior scores (n=21) were generally in the borderline to impaired range. Longitudinal cognitive data (n=19) suggested a pattern of decreasing scores over time. However, most participants remained at the same general level of functioning throughout the study.
interpretationThis study begins to systematically describe the neurocognitive phenotype of children and adolescents with NPC1, identifying heterogeneity and decline, aiding in understanding the natural history of the disease to plan treatment studies.
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