Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?

OBJECTIVE: Congenital hypothyroidism (CHT) is a common cause of preventable mental retardation, and the quantification of intellectual disability due to CHT is needed to assess the public health benefit of newborn screening.

DESIGN: Review of published studies conducted among children born prior to the introduction of newborn screening for CHT and reporting cognitive test scores.

SETTING: Population-based studies.

PATIENTS: Children with clinically diagnosed CHT.

INTERVENTIONS: Thyroid hormone substitution.

MAIN OUTCOME MEASURES: Intelligence quotient (IQ) (mean and distribution).

RESULTS: The prevalence of recognised CHT rose from one in 6500 prior to screening to approximately one in 3000 with screening. In four population-based studies in high-income countries, among children with clinically diagnosed CHT 8-28% were classified as having intellectual disability (defined as an IQ <70) and the mean IQ was 85 (a leftward shift of 1 SD). Among children with subclinical CHT, the risk of overt intellectual disability was lower (zero in one study), but decreased intellectual potential and increased behavioural abnormalities were documented.

CONCLUSIONS: Although the prevalence of overt disability among children with CHT in the absence of screening may be less than previously estimated, the preventable burden of intellectual disability due to CHT is substantial and justifies newborn screening. However, changes in existing newborn screening protocols to capture more cases are unlikely to prevent overt cases of disability and should therefore be justified instead by the documentation of other benefits of early detection.