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A 3-year-old girl presents in clinic with mild to moderate general delay in all areas. There is no other relevant history, no family history and clinical examination is normal. The paediatric registrar decides to order some investigations, including the biotinidase activity level, to identify the possible aetiology of the global developmental delay (GDD).
Structured clinical question
In preschool children with global developmental delay [patients], is the prevalence of biotinidase deficiency [outcome] higher than in the general population?
Search strategy and outcome
Medline (1950–August 2010) was searched using different combinations of MeSH terms including ‘global developmental delay’, ‘severe learning disabilities’, ‘moderate learning disabilities’, ‘developmental disability’, ‘developmental delay disorder’ and ‘mental retardation’ in various combinations with the keywords ‘biotin’, ‘biotinidase activity’ or ‘biotinidase deficiency’. The search was carried out on 29 August 2010 and yielded 41 articles. A search of Embase (1996–August 2010) using similar keyword combinations …
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