To maximize research value of patient cohorts with rare CNV, it is essential to ensure uniformity of protocols for NDD clinical research and patient phenotyping.
WG2: Clinical Phenotyping
WG2 will review current methodologies and survey common practice across COST participating countries and international partners. This will be used to propose standardized clinical phenotyping protocols and guidelines for best practice. Based on current genetic knowledge, assessments will incorporate a broad range of objective measures, including neurocognitive testing, motor function, and brain imaging.
A standing expert review will examine how data from pathogenic CNV patients compares to patients in the general population without pathogenic CNVs. This will ensure good concordance with the network’s high-level objective of using pathogenic CNV data as the basis for understanding the common NDD cases.