Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Reiss, AL; Cianchetti, C; Cohen, IL; DeVries, B; Hagerman, R; Hinton, V; Froster, U; Lachiewicz, A; Mazzocco, M; Sobesky, W

Published Date

  • April 15, 1992

Published In

Volume / Issue

  • 43 / 1-2

Start / End Page

  • 61 - 64

PubMed ID

  • 1605236

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320430109


  • eng

Conference Location

  • United States