Dataset Information

A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).

ABSTRACT:

Background

Angelman syndrome (AS) is a rare, neurological genetic disorder for which no clinical outcomes assessments (COAs) or conceptual models (CM) have been developed.

Objective

This study aimed to identify symptoms and impacts relevant and important in this patient population and develop a conceptual model of AS, and to evaluate the content validity of selected COA instruments with potential for inclusion in clinical studies of AS to capture treatment benefit.

Methods

For both concept elicitation (CE) and cognitive interviews (CI), caregivers of children, adolescents, and adults with AS and clinicians with AS experience were targeted. For CI, clinicians discussed the Modified Performance-Oriented Mobility Assessment (MPOMA-G) and ProtoKinetics Zeno Walkway™ and caregivers reviewed the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT), the Anxiety, Depression and Mood Scale (ADAMS), the Aberrant Behavior Checklist-Community (ABC-C), and the Morning Diary.

Results

Four clinicians and 34 caregivers participated in CE interviews; three clinicians and 36 caregivers participated in CI. A conceptual model, initially informed by literature, was refined based on interview data. Five domains of symptoms, signs, and characteristics of AS were identified: cognitive and executive functioning, social-emotional, emotional-expressive behavior, sensory-compulsive behavior, and physical. Patient impacts were identified in three domains: activities of daily living, school, and social/community. Caregiver impacts were identified in five domains: mental health, physical health, work, home, and social. While all instruments demonstrated the ability to provide relevant data for the AS population, each instrument either contained some items irrelevant to individuals with AS or was missing important concepts based on the interviews. No single instrument covered all relevant domains specific to AS.

Conclusion

Future work should consider the adaptation of existing COAs and the development of a novel AS-specific instrument for use in clinical research to ensure outcomes important to this patient population are captured.

SUBMITTER: Grieco JC

PROVIDER: S-EPMC6335381 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Publications

A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).

Grieco Joseph C JC Romero Beverly B Flood Emuella E Cabo Raquel R Visootsak Jeannie J

The patient 20190201 1

<h4>Background</h4>Angelman syndrome (AS) is a rare, neurological genetic disorder for which no clinical outcomes assessments (COAs) or conceptual models (CM) have been developed.<h4>Objective</h4>This study aimed to identify symptoms and impacts relevant and important in this patient population and develop a conceptual model of AS, and to evaluate the content validity of selected COA instruments with potential for inclusion in clinical studies of AS to capture treatment benefit.<h4>Methods</h4> ...[more]

PMID: 29987743

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Project description:BackgroundWith respect to patient-centered care, measuring care effects based on patient-relevant outcomes is becoming increasingly important. There is some uncertainty about what outcomes are particularly relevant to patients and who determines their relevance. To determine this, we conducted a scoping review of the international literature with the aim to improve the conceptual clarity regarding (1) the terminology used for supposedly patient-relevant outcomes, (2) the variety of outcomes considered patient-relevant, and (3) justifications for the choice of these specific outcomes.MethodsWe conducted a systematic search in Embase, PubMed (including Medline), Cochrane Central, Scopus, and Google Scholar with a special focus on article titles. Search terms included patient-relevant, patient-important, patient-preferred, and outcome(s), endpoint(s), parameter(s), indicator(s). We limited the search period from January 2000 to July 2019. Full-text articles reporting outcomes that were described as patient-relevant met the inclusion criteria. Two researchers independently analyzed all eligible articles applying quantitative and structuring content analysis.ResultsWe identified 155 articles, 44 of which met the inclusion criteria. A content analysis revealed 35 different terms used with regard to patient-relevant outcomes. However, authors predominantly referred to patient-important outcomes (23 articles, 52.3%) and patient-relevant outcomes (17 articles, 38.6%). A structuring content analysis of all extracted outcomes revealed a total of 281 codes, pooled in 32 inductive categories. Among these, the following categories dominated: symptoms, adverse events/complications, survival/mortality, pain. In just 16 of the articles (36.4%), authors provided justifications for the choice of the outcome being based either on patient and/or expert opinions. In another 13 articles (29.5%), no justification was provided.ConclusionThis scoping review on patient-relevant outcomes was driven by the questions (1) what outcomes are particularly relevant to patients, and (2) who determines their relevance. We found a wide range of supposedly patient-relevant outcomes, with only one third of articles involving patients in the justification of the outcome selection. In view of this conceptual uncertainty it appears difficult to determine or even to compare a particular patient benefit of interventions. A set of generic outcomes relevant to patients would be helpful to contribute to a consistent understanding of patient relevance.

Dataset Information

A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).

Background

Objective

Methods

Results

Conclusion

Publications

A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).

Similar Datasets

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