Khangura, Sara DKaraceper, Maria DTrakadis, YannisMitchell, John JChakraborty, PraneshTingley, KylieCoyle, DougGrosse, Scott DKronick, Jonathan BLaberge, Anne-MarieLittle, JulianPrasad, ChitraSikora, LindseySiriwardena, KomudiSparkes, RebeccaSpeechley, Kathy NStockler, SylviaWilson, Brenda JWilson, KumananZayed, ReemPotter, Beth K2015-12-182015-12-182015-02-13BMC Pediatrics. 2015 Feb 13;15(1):7http://dx.doi.org/10.1186/s12887-015-0323-xhttp://hdl.handle.net/10393/33656Abstract Background Improvements in health care for children with chronic diseases must be informed by research that emphasizes outcomes of importance to patients and families. To support a program of research in the field of rare inborn errors of metabolism (IEM), we conducted a broad scoping review of primary studies that: (i) focused on chronic pediatric diseases similar to IEM in etiology or manifestations and in complexity of management; (ii) reported patient- and/or family-oriented outcomes; and (iii) measured these outcomes using self-administered tools. Methods We developed a comprehensive review protocol and implemented an electronic search strategy to identify relevant citations in Medline, EMBASE, DARE and Cochrane. Two reviewers applied pre-specified criteria to titles/abstracts using a liberal accelerated approach. Articles eligible for full-text review were screened by two independent reviewers with discrepancies resolved by consensus. One researcher abstracted data on study characteristics, patient- and family-oriented outcomes, and self-administered measures. Data were validated by a second researcher. Results 4,118 citations were screened with 304 articles included. Across all included reports, the most-represented diseases were diabetes (35%), cerebral palsy (23%) and epilepsy (18%). We identified 43 unique patient- and family-oriented outcomes from among five emergent domains, with mental health outcomes appearing most frequently. The studies reported the use of 405 independent self-administered measures of these outcomes. Conclusions Patient- and family-oriented research investigating chronic pediatric diseases emphasizes mental health and appears to be relatively well-developed in the diabetes literature. Future research can build on this foundation while identifying additional outcomes that are priorities for patients and families.Journal Article2015-12-18enKhangura et al.; licensee BioMed Central.