Discovering fragile X syndrome : family experiences, perceptions

Discovering Fragile X Syndrome: Family experiences, perceptions FPG Snapshot # 5 Apr 'I Fragile X syndrome (FXS) is a genetic disorder and the most common known inherited cause of mental retardation and developmental disabilities with an incidence of between 1:2,500 and 1:4,000 births. The disorder is on the X chromosome in both males and females, but males are typically affected more severely. The disorder can be passed for generations in a carrier status with increasing chances of the gene expanding into the full disorder Unlike Down syndrome, however, FXS is not detectable at birth through physical examination or behavioral observation. It is only through the gradual emergence of delays and behavioral challenges that it becomes apparent to parents and professionals that something is wrong. We wanted to determine the experiences of families in discovering FXS, factors associated with the timeliness of discovery, and the perceived consequences of obtaining this information. Parents surveyed reported that males with FXS and born in 1990 or later were identified with FXS at an average age of 3 1.4 months. Diagnosis was typically more than 1 8 months after someone first became concerned about the child’s development. Eligibility for special education services occurred earlier than the FXS diagnosis, typically at about age 2 after diagnosis of a developmental delay. I dentif ication of FXS The family physician or pediatrician was usually the first person turned to by the family. Nearly half of the respondents said that when they first expressed concern, the physician either affirmed that the child was indeed normal or suggested that the parents “wait and see.” Nearly 60 percent said it was somewhat or veiy difficult to get health care professionals to agree that something was wrong with their child. Eleven months typically elapsed between professional confirmation of a delay and FXS diagnosis, and more than a third of the respondents said it took more than 10 visits before FXS diagnosis. In most cases, the recommendation for FXS testing did not come from the pediatrician or family physician, which added to the delay. Family experiences, perceptions Families generally expressed a combination of relief and distress at the diagnosis. Most said the diagnosis ended their search for a reason for their child’s problems and gave important information about reproductive risk that they wished they had known earlier. Parents experienced challenges, including distress, guilt, worry about the future, and difficulty sharing the information with extended family members. However, most families were glad to find resolution and, despite the challenges, felt the information was essential. (See "Implications” on reverse) f \ This Snapshot is based on “Discovering Fragile X Syndrome: Family Experiences and Perceptions” by Donald B. Bailey Jr. and Debra Skinner, both of the FPG Child Development Institute, University of North Carolina at Chapel Hill, and Karen L. Sparkman of UNC-Chapel Hill. The article was in Pediatrics, V ol. III No. 2 Feb., 2003, pages 407- 416. V _ У Summary of article Researchers used surveys from 274 families who had at least 1 child with fragile X syndrome (FXS). For families of male children who were born in the last decade, someone first became concerned about the child’s development at 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.