Preliminary evidence for a cognitive phenotype in Barth syndrome

Michèle M.M. Mazzocco, Richard I. Kelley

Research output: Contribution to journalArticlepeer-review

28 Scopus citations

Abstract

Barth syndrome (BTHS) is a rare, X-linked, recessive disorder that affects almost exclusively males. It is characterized by short stature, cardioskeletal myopathy, cyclic neutropenia, increased excretion of 3-methylglutaconic acid in the urine, and moderate hypocholesterolemia. The objective of the present study was to assess whether BTHS presents with a cognitive phenotype. Preliminary data were collected from five kindergarten or first-grade boys with BTHS. An abbreviated psychoeducational test battery was administered to each boy, and parents of each boy completed standardized behavior rating scales. Data from 120 boys of similar age or grade level were used for one comparison group; a subset of this sample comprised a comparison group that was individually matched on age and grade level to one of the five boys with BTHS. Preliminary data reflect a higher incidence of cognitive difficulties in boys with BTHS relative to both comparison groups. Boys with BTHS had significantly lower visual spatial skills, but comparable reading-related skills, when compared with either group. Although based on a small sample size, the preliminary data presented in this work are the first indication of a cognitive phenotype associated with BTHS.

Original languageEnglish (US)
Pages (from-to)372-378
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume102
Issue number4
DOIs
StatePublished - Sep 1 2001
Externally publishedYes

Keywords

  • Barth syndrome
  • Cardiomyopathy
  • Cognitive phenotype

Fingerprint

Dive into the research topics of 'Preliminary evidence for a cognitive phenotype in Barth syndrome'. Together they form a unique fingerprint.

Cite this