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Congenital hypothyroidism in Wales (1982-1993): demographic features, clinical presentation and effects on early
W Y Law1, D M Bradley, J H Lazarus
1Department of Child Health, University of Wales, College of Medicine, Cardiff, UK.
Insights
Neonatal screening for congenital hypothyroidism (CH) in Wales identified 136 infants over 12 years. Early treatment resulted in satisfactory neurodevelopmental progress in children with CH by age two.
Area of Science:
- Neonatal screening
- Pediatric endocrinology
- Developmental pediatrics
Background:
- Congenital hypothyroidism (CH) screening was implemented in Wales in 1982.
- Evaluating early screening outcomes and long-term development is crucial for CH management.
Purpose of the Study:
- To assess the demographic characteristics of infants diagnosed with CH through neonatal screening in Wales.
- To evaluate the neurodevelopmental progress of these infants during their first two years of life.
Main Methods:
- Prospective data collection on biochemical and clinical information from infants identified with CH.
- Utilized questionnaires for pediatricians and the Griffiths Mental Development Scales for developmental assessment.
Main Results:
- Screening identified 136 infants with CH between 1982-1993, with a prevalence of 1 in 3279.
- CH infants showed increased birth weight and higher rates of non-thyroidal congenital abnormalities and heart disease.
- Mean developmental quotients at 1 and 2 years were above 100, indicating satisfactory neurodevelopment.
Conclusions:
- Demographic features of Welsh CH infants align with European data, but regional prevalence variations exist.
- Median age for initiating CH therapy was 17 days, comparable to other programs.
- Neonatal screening and early treatment in Wales lead to satisfactory neurodevelopmental outcomes in children with CH.
Objective:
Neonatal screening for congenital hypothyroidism (CH) was introduced in Wales in 1982. The aim of the study was to evaluate the demographic features and characteristics of infants identified during the first 12 years of screening and their neurodevelopmental progress in the first 2 years of life.
Design:
Prospective collection of biochemical and clinical data (including results of Griffiths Mental Development Scales) obtained from questionnaires sent to paediatricians responsible for the ongoing clinical care of children with CH.
Patients:
In Wales, between 1982 and 1993, 136 infants with primary congenital hypothyroidism (CH) were identified by the neonatal screening programme.
Results:
Of all new-borns, 99.8% were screened and the prevalence of CH was 1 in 3279 (1 in 2473 girls and 1 in 4770 boys). The prevalence of CH was increased in North Wales. CH was associated with increased birth weight (48.5% of infants weighed greater than 3.5 kg) and an increased prevalence of non-thyroidal congenital abnormalities (8%) and congenital heart disease (3%). Isotope scanning demonstrated an increased prevalence of normal or enlarged thyroid glands and fewer ectopic glands compared to those reported in other studies. The mean developmental quotients (DQs) for individual subsets of intellectual and behavioural functioning in children with CH aged 1 and 2 years were all above 100 (range: 103.5-111.9). In subjects with absent thyroids, these DQs were correlated with the serum concentrations of free thyroxine before treatment.
Conclusions:
The demographic features of infants with congenital hypothyroidism born in Wales are similar to those reported from other European studies although there are marked regional variations in prevalence within Wales for which there is no apparent explanation. The median age of starting therapy was 17 days and compares favourably with other screening programmes. The overall mental development of Welsh children aged 1 and 2 years with congenital hypothyroidism identified by neonatal screening is satisfactory.