An Audit of biotinidase screening at a tertiary children’s hospital before and after implementation of an evidence-based practice guideline for developmental delay
Abstract
Aim:
An evidence-based protocol for investigation of children with global developmental delay was introduced in 2010, recommending that biotinidase activities (BTA) should be measured early in the clinical pathway for moderate to severe delay. We aimed to compare the rate and results of screening for biotinidase deficiency (BTD) before and after the introduction of the guideline.
Method:
We retrospectively analysed the laboratory data for all patients tested for BTD in a large tertiary children’s hospital over a period of 2 years before and 2 years after the guideline implementation.
Results:
150 tests of BTA were requested in 138 patients aged 1 month to 17 years 7months (median 2 years 3 months). A total of 10 (6.7%) abnormal results were found and 8 patients were diagnosed with partial BTD, corresponding to an annual incidence of 0.357 (0.18 to 0.54) per 1000 live births. The monthly rate of BTA tests requested progressively increased from 0.31 in 2008 to 1.11 per 1000 live births in 2011, but the annual rate of positive diagnosis decreased from an average of 10% before the introduction of the guidelines to 4.5% in 2010-2011 after its implementation.
The commonest symptoms of patients diagnosed with partial BTD were either neuro-developmental delay (87.5%) or neurological abnormalities (75%), and included complex epilepsy or seizure disorders (62.5%), learning difficulties (37.5%) and hearing loss (25%).
Conclusion:
This study suggests that the prevalence of BTD in a cohort of selected patients in a tertiary hospital with developmental delay or other neurological disorders is about 60 times higher than the estimated incidence of 0.008 (0.006 to 0.009) per 1000 live births in the developed countries. The lower rate of positive results after the guideline implementation (10% vs 4.5%) suggests that the investigations were being ordered simply as pathway-led procedure rather than based on strong clinical suspicion.
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DOI: http://dx.doi.org/10.18103/imr.v3i3.383
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