Abstract
Barth syndrome (BTHS), a rare X-linked metabolic disorder, is one of the most common known genetic causes of pediatric dilated cardiomyopathy. Advances in the genetic and physical phenotyping of BTHS have surpassed research on its cognitive phenotype. Herein, we expand upon existing knowledge of math difficulties reported for BTHS by evaluating the emergence, nature, and trajectory of mathematics difficulties in this population. We examined neurocognitive performance of 19 young patients from our current and previous studies of BTHS, relative to published normative data. Children completed the Test of Early Mathematics Ability and standardized measures of IQ, visual perception, and vocabulary; executive functions were evaluated by parent report. We focused on subsets of patients to determine whether math difficulties reported for school-aged boys with BTHS appear by preschool (n = 9), whether number sense deficits associated with mathematics learning disability (MLD) are evident in kindergartners with BTHS (n = 10), and whether cognitive skills are stable from preschool to primary school in this population (n = 12). Preschoolers with BTHS had age-appropriate math, vocabulary, spatial, and IQ scores. Age-appropriate performance ...Continue Reading
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