H - 17 Neuropsychological Assessment in Rare Pediatric Neurogenetic Disorders: Considerations for Clinical Research.

Approximately 80% of rare diseases in childhood have a genetic cause. Neuropsychological assessments offer a greater understanding of the clinical presentation and trajectory of neurogenetic disorders. Given the rarity of the conditions, the limited funding allocated to study psychosocial factors, the diversity within the patient populations (e.g., country of origin, clinical phenotypes), and the limitations of our tools, there are no clear guidelines for evaluations. We aim to present a systematic approach to create assessment protocols that track disease progression and/or efficacy of therapeutic interventions. Our gene therapy program has created nine assessment protocols to evaluate conditions ranging from epileptic encephalopathies, lysosomal storage, neuromuscular, and mitochondrial diseases. Through review of past protocols, we created a neuropsychological assessment selection checklist (NASC) and standard operating procedure (SOP) checklist. The NASC systematizes updated multidisciplinary disease knowledge and relevant desirable outcomes (e.g., cognitive, motor, quality of life). Cultural elements (e.g., beliefs around health, disease, testing) and necessary accommodations (e.g., interpreters, sensory impairments) must be considered. Additional sociocultural and socioeconomic information of the sample is germane not only to contextualize results but also to help narrow possible tools. The SOP aims to increase standardization (e.g., starting points) and maximize use of the data collected (e.g., deferment reasons.). Neuropsychological assessments offer a wealth of cognitive, behavioral, emotional, and adaptive functioning data that is crucial to better understand the progression and treatment of rare neurogenetic diseases. Cultural considerations and in-depth clinical and assessment skills are essential to creating evaluation protocols that are valid, useful, and comprehensive. © The Author(s) 2023. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Citation

Karen A Dorsman, Beatriz MacDonald, Souad Messahel, Daniel Horton, Veronica Bordes Edgar. H - 17 Neuropsychological Assessment in Rare Pediatric Neurogenetic Disorders: Considerations for Clinical Research. Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists. 2023 Oct 20;38(7):1499

Mesh Tags

PMID: 37807538

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