Congenital hypothyroidism: long-term outcome.

Although mental retardation associated with congenital hypothyroidism (CH) is prevented by newborn screening and early treatment, affected children still undergo a brief period of thyroid hormone deficiency reflecting etiology of thyroid disease, illness severity, and treatment factors. Because thyroid hormone is essential for normal brain development and because some processes require thyroid hormone in the period when thyroid hormone was lacking, children with CH treated early may still have subtle neurocognitive deficits. As the period when thyroid hormone is needed differs for different brain regions, there may be different types of deficits depending on when thyroid hormone levels were insufficient. Since 1980, we have been following a large cohort of Toronto-based children with congenital hypothyroidism identified by newborn screening from infancy to adolescence. Early findings revealed a 5-10-point decline in IQ, poorer visuomotor and visuospatial abilities, delayed speech and language development, selective neuromotor deficiencies, and poorer attention and memory skills, which were correlated with different disease and treatment factors. Now a comparison between 48 subjects at adolescence and matched controls indicates that deficits persist in visuospatial, memory, and attention domains and these are correlated with severity of early hypothyroidism. Negative relationships between attention indices and thyroxine (T4) elevations at time of testing also suggest a role for thyroid hormone in the regulation of attention.