No Change in the Age of Diagnosis for Fragile X Syndrome: Findings From a National Parent Survey

• Published in: Pediatrics (Evanston) 2009-08, Vol.124 (2), p.527-533
• Main Authors: Bailey, Donald B., Jr, Raspa, Melissa, Bishop, Ellen, Holiday, David
• Format: Article
• Language: English
• Subjects: Abortion, Eugenic; Age Factors; Biological and medical sciences; Changes; Child, Preschool; Children & youth; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); Consumer Behavior; Demographic aspects; Developmental Disabilities - diagnosis; Developmental Disabilities - epidemiology; Developmental Disabilities - genetics; Developmental Disabilities - therapy; Diagnosis; Diagnosis, Differential; DNA Mutational Analysis; Early Diagnosis; Early intervention; Early Intervention (Education); Family Planning Services; Female; Fragile X syndrome; Fragile X Syndrome - diagnosis; Fragile X Syndrome - epidemiology; Fragile X Syndrome - genetics; Fragile X Syndrome - therapy; General aspects; Genetic Carrier Screening; Genetic Counseling; Genetic disorders; Genetic Testing; Health Surveys; Humans; Infant; Male; Medical diagnosis; Medical genetics; Medical sciences; Miscellaneous; Mutation; Pediatrics; Pregnancy; Public health. Hygiene; Public health. Hygiene-occupational medicine; Sex Factors
• ISSN: 0031-4005; 1098-4275
• DOI: 10.1542/peds.2008-2992

To determine recent trends in the diagnosis of children with fragile X syndrome (FXS) and identify factors associated with the timing of diagnosis. More than 1000 families of children with FXS participated in a national survey. Of these, 249 had their first child (213 boys, 36 girls) diagnosed between 2001 and 2007 and did not know about FXS in their family before diagnosis. These parents answered questions about the average age of first concerns, developmental delays, early intervention, and the FXS diagnosis. They also provided other information about their child and family, reported who made the diagnosis, and described ramifications for other children and extended family members. The average age of FXS diagnosis of boys remained relatively stable across the 7-year period at approximately 35 to 37 months. The 36 girls with full mutation were given the diagnosis at an average age of 41.6 months. A trend was noted in earlier diagnosis of developmental delay for boys in more recent years. Approximately 25% of the families of male children had a second child with the full mutation before the diagnosis was given to the first child; 14 (39%) of the 36 families of female children had a second child with the full mutation before the diagnosis. Despite patient advocacy, professional recommendations regarding prompt referral for genetic testing, and increased exposure to information about FXS in the pediatric literature, no changes were detected in the age of diagnosis of FXS during the time period studied. Earlier identification in the absence of systematic screening will likely continue to be a challenge.