The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

Abstract

BackgroundIntellectual 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 WebAPP translates this knowledge of rare diseases into a diagnostic tool and information portal.Methods & resultsFreely available as a WebAPP via http://www.treatable-id.org and end 2012 via the 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 with search functions: 15 biochemical categories, neurologic and non-neurologic signs & symptoms, diagnostic investigations (metabolic screening tests in blood and urine identify 65% of all IEM), 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. The WebAPP is an integral part of a protocol prioritizing treatability in the work-up of every child with global delay / ID. A 3-year funded study will enable an evaluation of its effectiveness.ConclusionsFor rare diseases, a field for which financial and scientific resources are particularly scarce, knowledge translation challenges are abundant. With this WebAPP 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.

A systematic review of research into rare diseases in the educational sphere

“…After reading the abstracts it was found that, even though one of the terms in the educational sphere appeared in the title, the content of the paper was medical. Some were related to the training of medical and healthcare staff in the field of RDs (Jinnah, 2011;Van Karnebeek et al, 2012). Others had to do with university studies and knowledge, as in the case -for example -of the paper by Cismondi et al (2015), which addressed the educational issues associated with particular rare diseases in the curricula of Health Sciences and Professional Training Programs.…”

Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition? (Preprint)

“…On the other hand, new digital and social media offer new opportunities to facilitate the diagnostic journey. Addressing the need for timely diagnosis a Dutch group developed a mobile application (App) for earlier diagnosis of treatable diseases resulting in psychomotor delay [31]. Such approaches illustrate the benefits of today's technology which was successfully used in the current project.…”

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

“…1b), and is endorsed by the rare disease community [17] The app allows for the creation of a list of differential diagnosis according to symptoms and signs of the single treatable IDD and thus facilitates, particularly the second tier of the protocol which is based on an astute clinical differential diagnosis.…”

“…The application of the TIDE protocol in conjunction with TIDE app [14,15,17] would have lowered the total cost for each of these patients to a base of $527.97 CAD, plus the expense of individual second-tier tests on a case-by-case basis.…”