ArticleJournal of developmental and behavioral pediatrics : JDBP2007
Barth syndrome is associated with a cognitive phenotype.
Article in Journal of developmental and behavioral pediatrics : JDBP, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 53 citations in OpenAlex.
- Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome.Journal of cachexia, sarcopenia and muscle · 2026Article
- Deficient Cardiolipin Remodeling Alters Muscle Fiber Composition and Neuromuscular Connectivity in Barth Syndrome.bioRxiv : the preprint server for biology · 2025Article
- Barth Syndrome:Genes · 2025Review
- What can ATP content tell us about Barth syndrome muscle phenotypes?Journal of translational genetics and genomics · 2025Article
- Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome.Nature metabolism · 2023Article
- Phenotypic Characterization of MaleBiomedicines · 2023Article
- Reduction in cardiolipin reduces expression of creatine transporter-1 and creatine transport in growing hCMEC/D3 human brain microvessel endothelial cells.Frontiers in drug delivery · 2023Article
- Review
- Stimulating the sir2-spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome.Disease models & mechanisms · 2022Article
- Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.Molecular and cellular biochemistry · 2021Review
- Studying Lipid-Related Pathophysiology Using the Yeast Model.Frontiers in physiology · 2021Review
- Review
- A critical appraisal of the tafazzin knockdown mouse model of Barth syndrome: what have we learned about pathogenesis and potential treatments?American journal of physiology. Heart and circulatory physiology · 2019Review
- Plasmalogen loss caused by remodeling deficiency in mitochondria.Life science alliance · 2019Article
- Barth syndrome: mechanisms and management.The application of clinical genetics · 2019Article
- HRQoL in Barth Syndrome: Agreement between Child Self-reports and Parent Proxy-reports and Its Relationship to Parental HRQoL.Journal of human & clinical genetics · 2019Article
- Aberrant cardiolipin metabolism is associated with cognitive deficiency and hippocampal alteration in tafazzin knockdown mice.Biochimica et biophysica acta. Molecular basis of disease · 2018Article
- Oxidized phospholipid signaling in traumatic brain injury.Free radical biology & medicine · 2018Review
- Loss of tafazzin results in decreased myoblast differentiation in C2C12 cells: A myoblast model of Barth syndrome and cardiolipin deficiency.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2018Article
- Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling.Journal of rare diseases research & treatment · 2017Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveBarth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype.
methodsThe present study was designed to explore whether additional evidence for a cognitive phenotype emerged from a larger sample. A psychoeducational assessment battery was administered to 15 boys with Barth syndrome. Data from these boys were compared to data from 15 typically developing boys individually matched on age and grade in school to each of the 15 boys with Barth syndrome.
resultsAlthough boys with Barth syndrome had age-appropriate performance on all measures of reading-related skills, their performance on mathematics and visual spatial tasks was significantly lower than that of boys in the comparison group. Moreover, specific aspects of visual short-term memory also differed from available norms.
conclusionOur findings support the validity of the preliminary findings and reflect a higher incidence of cognitive difficulties in boys with Barth syndrome relative to boys in the comparison group. Coupled with the fatigue regularly experienced by boys with Barth syndrome, our findings indicate that educational support should be implemented during the early school-age years for children with Barth syndrome.
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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.