Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation.
New molecular research has provided strong evidence for different forms of the fragile X mutation. These findings suggest the need to develop a more standardized and sensitive method for determining neurobehavioral effects of the fragile X gene(s), particularly for molecular studies of patients who do not have obvious mental retardation. This report describes a brief screening questionnaire designed to increase the detection of neurobehavioral dysfunction in individuals from fragile X families who are included in new molecular studies. Improved detection of the affected state in fragile X syndrome will allow more valid clinical data to be correlated with the important molecular information currently being collected.
Reiss, AL; Cianchetti, C; Cohen, IL; DeVries, B; Hagerman, R; Hinton, V; Froster, U; Lachiewicz, A; Mazzocco, M; Sobesky, W
Volume / Issue
Start / End Page
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)