Treatable-ID


Listed in: Rare diseases  Learning disability  
Treatable-ID

Available on:



(click to download)

Supported languages:

English

Cost:

Free

Information about the diagnosis and treatment of 81 treatable rare diseases that cause intellectual disability.

Approved by


Languages

English

Countries of use

Any in which the user is familiar with English.

Cost

Free

Developer

Roderick Houben of HealtH2Media
(Based in Canada)
http://www.health2media.com

Funder

Treatable Intellectual Disability Endeavor in BC (TIDE BC), Canada, and Rare Disease Foundation, Canada

Medical Adviser

Treatable Intellectual Disability Endeavor in BC (TIDE BC), Canada

Features

Support to deal with symptoms/disabilities Support to deal with symptoms/disabilities
Self-monitoring Self-monitoring
Information Information

Summary

Informational app about the diagnosis and treatment of 81 rare diseases which cause intellectual disability—diseases that, if diagnosed, can be treatable. Designed for healthcare professionals, but of value to interested patients who wish to know more about the 81 featured medical conditions. Provides details about the symptoms and other signs suggestive of the 81 conditions, about appropriate diagnostic tests, forms of treatment, plus other relevant facts. Created by the Treatable Intellectual Disability Endeavor in British Columbia, the work of which was published in the Orphanet Journal of Rare Diseases [see review].


Tags: Disability

Reviews

Reviewer: Treatable Intellectual Disability Endeavor in BC (TIDE BC), Canada
Review:

Recommended by the app’s funder and medical advisor.


Source: http://bit.ly/1jObT5f
Usage: Not specified
Weblink of reviewer: http://bit.ly/1jObUq1
Reviewer: Rare Disease Foundation, Canada
Review: “Looking for a treatable rare disease associated with intellectual disability? There is an app for that. … Researchers at TIDE BC (Treatable Intellectual Disability Endeavor in British Columbia), a group of dedicated clinical scientists at the Children’s Hospital in Vancouver, Canada, recently developed an app to help diagnose a total of 81 treatable rare diseases that cause intellectual disability. … Regarding the 81 treatable inborn errors of metabolism, the team at TIDE BC found that over 65% of these conditions could be identified using group tests; each child with intellectual disability should be screened with these tests. The remaining 35% of disorders could be identified with a single disease-specific test; the choice of test to perform can be facilitated by the app. Once a treatable condition has been identified, the app also provides clinicians with a host of evidence-based documents to aid in the treatment decision-making process.”
Source: http://bit.ly/1jOc2G4
Usage: Not specified
Weblink of reviewer: http://bit.ly/1jOc2Wk
Reviewer: ‘The treatable intellectual disability app’, Orphanet Journal of Rare Diseases, 2012, Orphanet, France
Review: “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. Our 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 ‘Treatable-ID’ app translates this knowledge of rare diseases into a diagnostic tool and information portal. … This tool is intended to help to increase the general awareness of treatable ID, and to create a reliable information portal for rare metabolic diseases. … The treatable diseases are presented in 15 biochemical categories according to accepted nomenclature and/or pathophysiology. For each disease, the biochemical defect is listed, with illustration thereof provided on the ‘disease page’. … The tests required for the diagnosis of each of the conditions were assessed.”
Source: http://bit.ly/1jOcpjJ
Usage: Not specified
Weblink of reviewer: http://bit.ly/1jOcpjN

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