Objectives Down's syndrome (DS) is the commonest chromosomal disorder with an incidence of 1:1000 live births. Children with DS have a higher predisposition to develop hypothyroidism and symptoms may go unnoticed, due to overlap with other features of the syndrome. If left unrecognised, hypothyroidism causes preventable neurodevelopmental and physical manifestations. The Down's syndrome Medical Interest Group (DSMIG) suggest that all young people with DS be screened for thyroid disease at 4–6 months of life, 12 months and then annually lifelong. Screening is performed using finger prick samples of dried blood. The aim of our audit was to assess whether we were meeting DSMIG guidelines for thyroid screening in this cohort. Methods Our Lanarkshire DS patient register was used to identify patients; this register consists of all children from birth to 16 years living with DS in Lanarkshire. Results 10 patients under the age of 4 years were identified; 9 were eligible for screening (one patient already had hypothyroidism so was excluded). Of the resulting 9 patients, 9/9 (100%) had neonatal blood spot cards completed but only 2/9 (22%) had been screened appropriately for thyroid disease following the neonatal period. Of the 7/9 (78%) patients suboptimally screened, 5/7 (71%) had late screens and 6/7 (86%) had screening opportunities completely missed. Of the 2 patients with late screens, they were on average two months late. Conclusion We presented this data locally to members of the multidisciplinary team caring for children with Down's syndrome and discussed strategies to improve screening. Consequently, we aim to introduce several methods to mitigate the risk to our patients: Designing a simple to follow DS thyroid screening flowchart and a new information document issued to health visitors, GPs and parents to act as a prompt for thyroid screening. Creating alerts on our patient register to prompt distribution of screening packs one month before tests are due. Using red/green colour coding to act as a visual prompt for outdated screens DS co-ordinator to contact health visitors/school if no sample has been submitted within a month of the annual checkpoint. Increased frequency of DS team meetings to discuss challenges and strategies We aim to reaudit our data in one year to assess our improvements.
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Tester et al. (2024) studied this question.
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