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PEDIATRICS Vol. 111 No. 2 February 2003, pp. 407-416

REVIEW ARTICLE

Discovering Fragile X Syndrome: Family Experiences and Perceptions

We used surveys from 274 families who had at least 1 child with fragile X syndrome (FXS) to determine their experiences in discovering FXS, factors associated with the timeliness of discovery, and the perceived consequences of obtaining this information. For families of male children who were born in the last decade, someone first became concerned about the child’s development at an average age of 13 months. Professional confirmation of a developmental delay did not occur until an average age of 21 months, and a FXS diagnosis occurred at an average age of nearly 32 months. Families reported several barriers to discovering FXS and frustration with the process. Many families had additional children with FXS without knowing reproductive risk. A range of perceived benefits and challenges associated with the discovery were reported. We conclude that selected pediatric practices could promote earlier identification but in only a limited way and predict that disorders such as FXS will continue to challenge current criteria for determining viable candidate disorders for newborn screening.

Donald B. Bailey, Jr, PhD, Debra Skinner, PhD and Karen L. Sparkman, EdS

From the Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina

Key Words: fragile X syndrome • pediatric screening • early identification

Abbreviations: FXS, fragile X syndrome

Received for publication Mar 20, 2002; Accepted Aug 15, 2002.




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