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 Citations (Scopus)

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

Fingerprint

Fragile X Syndrome
Intellectual Disability
Consensus
Mutation
Research
Genes
Surveys and Questionnaires

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Brief screening questionnaire for determining affected state in fragile X syndrome : A consensus recommendation. / Reiss, A. L.; Cianchetti, C.; Cohen, I. L.; DeVries, B.; Hagerman, Randi J; Hinton, V.; Froster, U.; Lachiewicz, A.; Mazzocco, M.; Sobesky, W.; Sudhalter, V.

In: American Journal of Medical Genetics, Vol. 43, No. 1-2, 1992, p. 61-64.

Research output: Contribution to journalArticle

Reiss, AL, Cianchetti, C, Cohen, IL, DeVries, B, Hagerman, RJ, 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, vol. 43, no. 1-2, pp. 61-64. https://doi.org/10.1002/ajmg.1320430109
Reiss, A. L. ; Cianchetti, C. ; Cohen, I. L. ; DeVries, B. ; Hagerman, Randi J ; Hinton, V. ; Froster, U. ; Lachiewicz, A. ; Mazzocco, M. ; Sobesky, W. ; Sudhalter, V. / Brief screening questionnaire for determining affected state in fragile X syndrome : A consensus recommendation. In: American Journal of Medical Genetics. 1992 ; Vol. 43, No. 1-2. pp. 61-64.
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