Children with Congenital Hypothyroidism
Marijke Uleman-Vleeschdrager, Ph.D.
Janile A.R. Sanders-Woudstra, M.D., Ph.D.
Hedy Westerborg-van Loon, M.D.
In 1979 a screening program aimed at the early recognition and treatment of congenital hypothyroidism (CHT) by means of substitution therapy (Derksen-Lubson et al., 1980) was started in the Netherlands in a defined trial area. Because the anomaly may lead to severe mental retardation (Klein et al., 1972; Money et al., 1978; Raiti et al., 1971; Steinhausen et al., 1978; Wolter et al., 1979; Zabransky et al., 1975), developmental index (D.I.) measurements were made from the time substitution therapy was initiated, and these measurements constituted an important datum in evaluating the results. Such evaluation has been undertaken by the Child Psychiatry Department of Sophia Children's Hospital, which has been engaged in the psychological examination of babies in the Rotterdam area who were identified as suffering from CHT and who were given immediate treatment. A total of twenty infants have been tested; no selection other than their somatic anomaly combined with early treatment was made. These twenty infants were detected via the screening program to be described. We also offer data on the follow-up and the psychological results.
Laboratory tests are required for early detection of CHT, inasmuch as clinical manifestations are seldom obvious during the neonatal period. Screening was combined with the existing phenylketonuria (PKU) screening that was instituted nationwide in 1974. The screening protocol for CHT was drawn up by members of the National Steering Committee and the Rotterdam Working Party (Health Council, 1980; Werkgroep, 1978, 1979, 1980).
Thyroxine (T4) and thyroid stimulating hormone (TSH) were measured by microradio‐ immunoassay in heel-puncture blood spotted on filter paper. The heel puncture was to be performed at the age of six, seven, or eight days. If this proved to be impossible, it was performed before the end of the second week of life. In this way more than 99 percent of the newborns were screened.
If the heel puncture (or second heel puncture, depending on the screening result of the first heel puncture) revealed abnormal values, the infant was referred to a pediatrician, usually within twenty-four hours. The pediatrician examined the referred infants according to a protocol for history-taking and physical examination and for laboratory examinations, which were: T4, TBG-test, T3, and TSH. 1 Indi-____________________