Abstract
It is well-recognized that measurement options for diagnosing and monitoring children with neurogenetic syndromes (NGS) associated with moderate to severe intellectual impairment are limited (Berry-Kravis, Dev Med Child Neurol https://doi.org/10.1111/dmcn.13018, 2016), and caregivers experience significant concerns regarding the assessment process. However to date, these concerns have not been summarized into actionable steps for clinicians and test-makers. As such, we used a mixed methods approach to assess caregiver-derived perceptions and suggestions for improving assessments in NGS. Results indicated many shared challenges and suggestions for improvement, particularly in the domains of testing procedures and examiner communication. Integrating these suggestions into future protocols is an important next step toward improving the quality of assessment procedures for children with NGS and their families across both clinical and research contexts.
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Acknowledgment
The authors would like to acknowledge and thank Dr. Allyson Berent, DVM, DACVIM, parent of a child with Angelman syndrome and Chief Scientific Office for the Foundation for Angelman Syndrome Therapeutics, for her feedback on an initial draft of this manuscript. We also appreciate the many caregivers who participated in this study.
Funding
This work is funded by the National Institute of Mental Health (K23MH111955 PI Kelleher), the Purdue University Department of Psychological Sciences Undergraduate Research Program (PI Garwood/Howell), and the National Fragile X Foundation Summer Scholars Program (PI Garwood, Faculty Mentor Kelleher). The study was independently reviewed and approved by the Institutional Review Board of Purdue University.
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BK, TG, and SH conceptualized the project. BK oversaw data collection and drafted the manuscript. TG and SH led data collection. TH, BMO, AS, LAS, and JS designed and executed coding of the qualitative data. All authors read and approved the final manuscript.
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Kelleher, B., Halligan, T., Garwood, T. et al. Brief Report: Assessment Experiences of Children with Neurogenetic Syndromes: Caregivers’ Perceptions and Suggestions for Improvement. J Autism Dev Disord 50, 1443–1450 (2020). https://doi.org/10.1007/s10803-020-04363-0
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DOI: https://doi.org/10.1007/s10803-020-04363-0