Preliminary evidence for a cognitive phenotype in Barth syndrome

Barth syndrome (BTHS) is a rare, X-linked, recessive disorder that affects almost exclusively males. It is characterized by short stature, cardioskele tal 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 phenotyp e. Preliminary data were collected from five kindergarten or first-grade bo ys with BTHS. An abbreviated psychoeducational test battery was administere d to each boy, and parents of each boy completed standardized behavior rati ng 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 boy s with BTHS. Preliminary data reflect a higher incidence of cognitive diffi culties in boys with BTHS relative to both comparison groups. Boys with BTH S had significantly lower visual spatial skills, but comparable reading-rel ated skills, when compared with either group. Although based on a small sam ple size, the preliminary data presented in this work are the first indicat ion of a cognitive phenotype associated with BTHS. (C) 2001 Wiley-Liss, Inc .