Gross motor development of a toddler with barth syndrome, an x-linked recessive disorder: a case report

Pediatr Phys Ther. 2001 Winter;13(4):175-81.


Purpose: The purpose of this case report is to describe the gross motor development of a toddler with Barth Syndrome, an X-linked genetic disorder.

Summary of key points: Barth Syndrome is an unusual pediatric cardiovascular and neuromuscular disorder with a combination of features, including dilated cardiomyopathy, persistent aciduria, skeletal myopathy, severe neutropenia, and growth retardation. The child described in this report has a complicated medical history, including the diagnosis of Barth syndrome at 38 months of age. He began receiving early intervention services, including physical therapy, because of developmental delays at 13 months. This report was written when the child was 45 months old. Implications for working with a child with a cardiomyopathy and neutropenia are presented. Cardiovascular changes following transcatheterization for an atrial septal defect are described. Developmental changes secondary to an early intervention program that included physical therapy are discussed.

Recommendations: Multiple aspects of care need to be considered when working with a child with a genetic syndrome that involves a cardiac defect and cardiomyopathy. When working with a child with a known cardiomyopathy, the physical therapist must watch for signs of cardiores-piratory distress. In addition, neutropenia is often associated with Barth syndrome, so the therapist must be cognizant of exposing the child to any illnesses.