| Abstract: | Galactosemia is an autosomal recessive disorder that results from a breakdown in the metabolism of galactose, which can be found in milk and milk products. Acute medical complications are controlled by early diagnosis through newborn screening and strict adherence to a galactose-free diet, but there remain physical and neurobehavioral sequelae from treated galactosemia. We present a case study of a 7-year-old boy with treated galactosemia. This study describes his history and course over a 41-month period from age 6 to 10 years old using repeated neuropsychological assessments. This child exhibited a decline in intellectual functioning, weaknesses in visual-spatial processing, fine motor skills, handwriting, math, language, and reading, and a deficit in executive functioning. He also met criteria for Attention Deficit Hyperactivity Disorder, Inattentive Type. Following treatment with stimulant medication, the child reportedly had decreased problems with sustained attention and increased consistency of responding and motor planning. Recommendations are made for repeated neuropsychological assessments to chart the course of children with treated galactosemia and to identify potential areas for remediation (e.g., attention). |
