The Treatable Intellectual Disability App: a Digital Tool to Enhance Diagnosis & Care for Rare Diseases.
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Abstract
Background
Intellectual disability (ID) is a devastating and frequent condition, affecting 2-3% of the population worldwide. Early recognition of treatable underlying conditions drastically improves health outcomes and decreases burdens to patients, families and society. A review, performed by Dr. Clara van Karnebeek & Dr. Sylvia Stöckler in B.C. Children's Hospital "Revisiting Treatable Metabolic Disorders Causing Intellectual Disability: a Systematic Literature Review", identified 81 such inborn errors of metabolism, which present with ID as a prominent feature and are amenable to causal therapy. The app translates this knowledge of rare diseases into a diagnostic tool and information portal.
Method & Results
Freely available as an app (via http://www.treatable-id.org) and as of April 2013 via the IOS App Store, this diagnostic tool is designed for all specialists evaluating children with global delay / ID and laboratory scientists. Information on the 81 diseases is presented in different ways: 15 biochemical categories, searchable neurologic and non-neurologic signs & symptoms, diagnostic investigations, therapies & effects on primary (IQ/developmental quotient) and secondary outcomes, and available evidence. For each rare condition a 'disease page' serves as an information portal with online access to specific genetics, biochemistry, phenotype, diagnostic tests and therapeutic options. As new knowledge and evidence is gained from expert input and PubMed searches this tool will be continually updated. All information is stored in a web based database (therefor allowing instant updates within the app). The app is an integral part of a protocol prioritizing treatability in the work-up of every child with global delay / ID, currently in effect in the province of British Columbia, Canada. A 3-year funded study (http://www.tidebc.org) will enable an evaluation of its effectiveness. Future plans involve the integration of social media and adding information about these rare diseases specifically targeted at patients.
Conclusion
For rare diseases, a field for which financial and scientific resources are particularly scarce, knowledge translation challenges are abundant. With this app, technology is capitalized to raise awareness for rare treatable diseases and their common presenting clinical feature of ID, with the potential to improve health outcomes. This innovative digital tool is designed to motivate health care providers to search actively for treatable causes of ID, and support an evidence-based approach to rare metabolic diseases.
In our current -omics world with continuous information flow, the effective synthesis of data into accessible, clinical knowledge has become ever more essential to bridge the gap between research and care.
Intellectual disability (ID) is a devastating and frequent condition, affecting 2-3% of the population worldwide. Early recognition of treatable underlying conditions drastically improves health outcomes and decreases burdens to patients, families and society. A review, performed by Dr. Clara van Karnebeek & Dr. Sylvia Stöckler in B.C. Children's Hospital "Revisiting Treatable Metabolic Disorders Causing Intellectual Disability: a Systematic Literature Review", identified 81 such inborn errors of metabolism, which present with ID as a prominent feature and are amenable to causal therapy. The app translates this knowledge of rare diseases into a diagnostic tool and information portal.
Method & Results
Freely available as an app (via http://www.treatable-id.org) and as of April 2013 via the IOS App Store, this diagnostic tool is designed for all specialists evaluating children with global delay / ID and laboratory scientists. Information on the 81 diseases is presented in different ways: 15 biochemical categories, searchable neurologic and non-neurologic signs & symptoms, diagnostic investigations, therapies & effects on primary (IQ/developmental quotient) and secondary outcomes, and available evidence. For each rare condition a 'disease page' serves as an information portal with online access to specific genetics, biochemistry, phenotype, diagnostic tests and therapeutic options. As new knowledge and evidence is gained from expert input and PubMed searches this tool will be continually updated. All information is stored in a web based database (therefor allowing instant updates within the app). The app is an integral part of a protocol prioritizing treatability in the work-up of every child with global delay / ID, currently in effect in the province of British Columbia, Canada. A 3-year funded study (http://www.tidebc.org) will enable an evaluation of its effectiveness. Future plans involve the integration of social media and adding information about these rare diseases specifically targeted at patients.
Conclusion
For rare diseases, a field for which financial and scientific resources are particularly scarce, knowledge translation challenges are abundant. With this app, technology is capitalized to raise awareness for rare treatable diseases and their common presenting clinical feature of ID, with the potential to improve health outcomes. This innovative digital tool is designed to motivate health care providers to search actively for treatable causes of ID, and support an evidence-based approach to rare metabolic diseases.
In our current -omics world with continuous information flow, the effective synthesis of data into accessible, clinical knowledge has become ever more essential to bridge the gap between research and care.
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