Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.

Journal Article (Journal Article)

Fragile X syndrome is the leading form of hereditary mental retardation, but the condition is still underdiagnosed in young children. Because of concern that the fragile X phenotype is subtle in young boys and therefore contributes to underdiagnosis of the disorder, we evaluated 73 boys (36 with fragile X and 37 same-age boys who were fragile X negative) using a checklist that we devised to learn which characteristics might be the most useful for alerting professionals to this diagnosis. After a multiple comparisons adjustment, only 4 of 42 characteristics differed significantly in their distributions between the two groups of boys (P < 0.0012), but 10 other items may also have predictive value for fragile X syndrome (P < 0.01). Four additional items occurred in at least 80% of boys with fragile X and may also be helpful for the clinician. Professionals who work with developmentally delayed children should be aware of these 18 clinical characteristics and some of the behavior characteristics commonly seen in boys with fragile X so that they can readily diagnose patients.

Full Text

Duke Authors

Cited Authors

  • Lachiewicz, AM; Dawson, DV; Spiridigliozzi, GA

Published Date

  • June 5, 2000

Published In

Volume / Issue

  • 92 / 4

Start / End Page

  • 229 - 236

PubMed ID

  • 10842286

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/(sici)1096-8628(20000605)92:4<229::aid-ajmg1>;2-k


  • eng

Conference Location

  • United States