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

Am J Med Genet. 1992;43(1-2):61-4. doi: 10.1002/ajmg.1320430109.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Behavior
  • Cognition
  • Female
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / psychology*
  • Humans
  • Male
  • Neuropsychology
  • Surveys and Questionnaires