Neuropsychological assessment in rare pediatric neurogenetic disorders: considerations for cross-cultural clinical research

ABSTRACT

Neuropsychological assessment in rare neurodevelopmental disorders has provided clinicians and researchers with a more comprehensive view of natural history as well as opportunities for additional endpoints in treatment trials. While challenges to protocol development have been addressed in the literature, cultural considerations have been overly broad resulting in limited utility when including mixed international samples. Using experiences over the past five years with the development of ten different protocols for neurogenetic rare diseases, this paper presents further considerations for protocol development that are culturally sensitive to international samples. Recommendations are offered across areas including participants from multiple countries; cognitive, sensory and motor impairments; psychometrics; and assessment logistics. A neuropsychological assessment selection checklist that guides researchers and clinicians through considerations and a standard operating procedure that provides guidance on thinking through the assessment process are offered.

KEYWORDS:

• Neuropsychology
• assessment
• cross-cultural
• genetic disorders
• rare disorders

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported in part by Neurogene, Inc. [under a clinical trial agreement (CTA201912-005) with UT Southwestern Medical Center]; and Ionis Pharmaceuticals [under a clinical trial agreement (CTA201908-0042) with UT Southwestern Medical Center]; and the UT Southwestern Medical Center.