Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

摘要: Abstract Background Intellectual developmental disorders (IDD 1 1Abbreviations:Intellectual (IDD)Inborn Errors of Metabolism (IEM)Treatable Disability Endeavour (TIDE)Whole Exome Sequencing (WES).), characterized by a significant impairment in cognitive function and behavior, affect 2.5% the population are associated with considerable morbidity healthcare costs. Inborn errors metabolism (IEM) currently constitute largest group genetic defects presenting IDD, which amenable to causal therapy. Recently, we created an evidence-based 2-tiered diagnostic protocol (TIDE protocol); first tier is ‘screening step' applied all patients, comprising routinely performed, wide available metabolic tests blood urine, while second-tier more specific based on patient's phenotype. The supported app (www.treatable-ID.org). Objective To retrospectively examine cost- time-effectiveness TIDE patients identified treatable IEM at British Columbia Children's Hospital. Methods We searched database for IDD diagnosed IEM, during period 2000–2009 our academic institution. Data regarding clinical phenotype, interval were collected. Total costs time intervals testing physician consultations actually performed calculated compared model protocol. Results Thirty-one (16 males) 2000–2009. For those identifiable via 1st ( n =20), average cost savings would have been $311.17 CAD, test =11) $340.14 CAD. Significant delay (mean 9months; range 1–29 months) could avoided 9 first-tier diagnoses, had used. diagnoses rapidly achieved use Treatable allowing searches signs symptoms. Conclusion forms appears effective reducing unnecessary Larger prospective studies, underway, needed prove that standard screening conditions time- cost-effective, most importantly will preserve brain timely diagnosis enabling initiation