Maximizing the sensitivity of a screening questionnaire for determining fragile X at-risk status

James T. Teisl, Allan L. Reiss, Michèle M.M. Mazzocco

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Parents of 55 preschool and school-aged children with the FMR1 full mutation (fM) completed a brief screening questionnaire. Parents of 55 additional children, each of whom was individually matched for sex, age, and IQ to one of the 55 children with Fragile X syndrome, also completed a questionnaire. Items on the questionnaire concerned behavior, rather than physical features or family history, associated with Fragile X syndrome. Children with the fM were more likely than controls to be on prescription medication, to have poor eye contact, to be described as nervous or anxious, and to regularly engage in repetitive movements and/or repetitive speech. Moreover, children with the fM received higher total scores on the questionnaire than their matched controls. These results suggest that questions about behavior are useful in the diagnostic evaluation of Fragile X syndrome, especially in the absence of the recognizable physical features associated with this condition.

Original languageEnglish (US)
Pages (from-to)281-285
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - Apr 2 1999
Externally publishedYes


  • Behavior
  • Fragile X
  • Screening


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