Poster Presentations, pp. 151–176

Newborn screening for congenital hypothyroidism (CH) has been widely adopted as early detection and treatment of CH prevents the severe neuro-cognitive deficit found in untreated patients. Despite extensive research into IQ scores in CH during childhood there is little information on adult outcome in terms of pragmatic measures such as educational achievement, employment, residency and relationships. We present the results of a questionnaire-based study examining these outcome measures in Scottish adults born between 1979 and 1989, and diagnosed with permanent CH on newborn screening. The unaffected siblings of our patients served as controls, to counter socioeconomic confounders. Matched patient and sibling pairs were compared. Validated systems were used to score education and employment data. Where possible, responses were compared with population normative data. There were 155 eligible patients. 79 have returned questionnaires to date, together with 34 sibling controls. Median age (range) and sex ratio (M:F) of patients and siblings was 22 (17-28) and 21 (17-35) years and 1:3.6 and 1:0.9 respectively. Median (range) education score was 217 (0-373) and 233.5 (0-387) for patient and sibling groups respectively (p=0.3) and for paired patients and siblings was 175 (0-264) and 226.5 (0-264) respectively (p=0.7). Comparison of median (range) education scores in severe CH at diagnosis (total T4 < 43.0 nmol/L) with milder cases showed similar scores - 203 (0-330) versus 231 (0-373) respectively