Speech and language deficits in early-treated children with galactosemia

ROUTINE NEWBORN SCREENING for galactosemia was initiated on the premise that early detection and treatment ensure normal development as well as prevention of liver disease and cataracts? However, early in our follow-up of children with galactosemia detected and treated from birth, we were impressed with the severity and frequency of speech difficulties, Thus we studied the intelligence and speech and language development in eight children with classic galactosemia (galactose-l-phosphate uridyl transferase deficiency) detected by routine newborn screening in the Massachusetts Metabolic Disorders Screening Program at the State Laboratory Institute, Massachusetts Department of Public Health. The ages of the children ranged from 3.6 to 11.6 years (Table I). There were six boys and two girls. Four of the eight children were sick during the neonatal period with jaundice, hepatomegaly, failure to thrive, and vomiting. One child had, in addition, a urinary tract infection caused by Escherichia coli and a bleeding diathesis. Treatment with a lactose-free diet was initiated before 16 days of age in all the children. Two children (Patients 4 and 7), each with an older affected sibling, were diagnosed at birth on the basis of cord blood studies. One of these children (Patient 4) never received milk, and the other received only two milk feedings. All of the children have continued dietary treatment and have been in good biochemical control since four to five days after treatment began, with no detectable galactose in blood or urine and whole blood galactose-l-phosphate concentrations less than 2 mg/dl. All have normal growth and normal physical develop