Fragile X checklist.

R J Hagerman; K Amiri; A Cronister

doi:10.1002/ajmg.1320380223

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PubMed · 2018072

Fragile X checklist.

R J Hagerman·K Amiri·A Cronister

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Abstract

A 13-item checklist that combines physical and behavioral traits typical of fragile X [fra(X)] syndrome was evaluated prospectively in the screening of 107 males with mental retardation or severe learning disabilities. The checklist was completed before we obtained cytogenetic results. Fifteen males were fra(X)-positive and the manifestations that differentiated fra(X)-positive and fra(X)-negative patients included perseverative speech, large or prominent ears, large testicles, and tactile defensiveness. The combination of physical and behavioral traits is helpful in suggesting the diagnosis and identifying high-risk patients. A total score of 16 or higher had a significant yield of fra(X)-positive patients (greater than or equal to 45%).

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Age Factors Attention Deficit Disorder with Hyperactivity Ear Facial Expression Fragile X Syndrome Genetic Testing Humans Intellectual Disability Male Mental Disorders Prospective Studies Regression Analysis Speech Disorders Testis Journal Article Research Support, Non-U.S. Gov't

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R J Hagerman, K Amiri, A Cronister. Fragile X checklist.. https://doi.org/10.1002/ajmg.1320380223

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