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

A. L. Reiss, C. Cianchetti, I. L. Cohen, B. DeVries, Randi J Hagerman, V. Hinton, U. Froster, A. Lachiewicz, M. Mazzocco, W. Sobesky, V. Sudhalter

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)61-64
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume43
Issue number1-2
DOIs
StatePublished - 1992
Externally publishedYes

Keywords

  • assessment
  • behavior
  • cognitive
  • Fragile X syndrome
  • phenotype
  • questionnaire
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Brief screening questionnaire for determining affected state in fragile X syndrome: A consensus recommendation'. Together they form a unique fingerprint.

  • Cite this

    Reiss, A. L., Cianchetti, C., Cohen, I. L., DeVries, B., Hagerman, R. J., Hinton, V., Froster, U., Lachiewicz, A., Mazzocco, M., Sobesky, W., & Sudhalter, V. (1992). Brief screening questionnaire for determining affected state in fragile X syndrome: A consensus recommendation. American Journal of Medical Genetics, 43(1-2), 61-64. https://doi.org/10.1002/ajmg.1320430109