Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Barth syndrome is associated with a cognitive phenotype.

Journal of developmental and behavioral pediatrics : JDBP - 1 Feb 2007

Mazzocco Michèle M M, Henry Anne E, Kelly Richard I

Abstract excerpt

OBJECTIVE: Barth 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. METHODS: The present study was designed to explore whether additional evidence...

Topics

Cardiomyopathy, Dilated
Child
Child, Preschool
Cholesterol
Cognition Disorders
Genotype
Glutarates
Growth Disorders
Humans
Male
Musculoskeletal Diseases
Neuropsychological Tests

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neutropenia

Phenotype

Severity of Illness Index

Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 17353728
DOI: 10.1097/01.DBP.0000257519.79803.90
PMCID: PMC2813702

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Barth syndrome is associated with a cognitive phenotype.PMID 17353728Read ↗

Preliminary evidence for a cognitive phenotype in Barth syndrome.Semantic proximity Read ↗

Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations.Semantic proximity Read ↗

The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors.Semantic proximity Read ↗

An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome.Semantic proximity Read ↗

Neuropsychological Findings in Adults with Triple X SyndromeSemantic proximity Read ↗

The cognitive and behavioural phenotype of Roifman syndrome.Semantic proximity Read ↗

Cognitive profile of Turner syndrome.Semantic proximity Read ↗

X- vs. Y-chromosome dosage effects on human cognition: a deep phenotypic comparison of 47,XXY and 47,XYY syndromes.Semantic proximity Read ↗

Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities.Semantic proximity Read ↗

Spatial cognition in males with Fragile-X syndrome: evidence for a neuropsychological phenotype.Semantic proximity Read ↗

Cognitive‐behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletionsSemantic proximity Read ↗

Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.