The findings and conclusions in this publication are those of the authors and do not necessarily represent the views of CDC or APTR.
Article first published online: 20 JUN 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 16, pages 2060–2069, 15 August 2008
How to Cite
Bailey, D. B., Raspa, M., Olmsted, M. and Holiday, D. B. (2008), Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am. J. Med. Genet., 146A: 2060–2069. doi: 10.1002/ajmg.a.32439
How to cite this article: Bailey DB Jr, Raspa M, Olmsted M, Holiday DB. 2008. Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am J Med Genet Part A 146A:2060–2069.
- Issue published online: 25 JUL 2008
- Article first published online: 20 JUN 2008
- Manuscript Accepted: 18 MAY 2008
- Manuscript Received: 30 APR 2008
- Centers for Disease Control and Prevention (CDC)
- Association for Prevention Teaching and Research (APTR). Grant Number: U50/CCU300860
- fragile X syndrome;
- co-occurring conditions
Parents enrolling in a national survey of families of children with fragile X (FX) reported whether each of their children had been diagnosed or treated for developmental delay or eight conditions frequently associated with FX: attention problems, hyperactivity, aggressiveness, self-injury, autism, seizures, anxiety, or depression. This article reports results for 976 full mutation males, 259 full mutation females, 57 premutation males, and 199 premutation females. Co-occurring conditions were frequently reported for all FMR1 gene variations. The number of co-occurring conditions experienced was strongly associated with parent reports of their child's ability to learn, adaptability, and quality of life. Most individuals with the full mutation experienced multiple co-occurring conditions, with a modal number of 4 for males and 2 for females. Most (>80%) full mutation males and females had been diagnosed or treated for attention problems. Premutation males, when compared with a matched group of non-FX males, were more likely to have been diagnosed or treated for developmental delay, attention problems, aggression, seizures, autism, and anxiety. Premutation females were more likely to have been diagnosed or treated for attention problems, anxiety, depression, and developmental delay. Clusters of conditions were identified, seeming to occur in an additive fashion. Self-injury, autism, and seizures rarely occurred in isolation, but were more likely in individuals who also had problems with attention, anxiety, and hyperactivity. The findings provide a reference point for future studies on the prevalence and nature of co-occurring conditions in FX; suggest the possibility that certain conditions cluster together; provide evidence that male and female carriers experience elevated rates of co-occurring conditions compared with matched groups of non-carrier children; and emphasize the importance of including an assessment of co-occurring conditions in any clinical evaluation of individuals with abnormal variation in the FMR1 gene. © 2008 Wiley-Liss, Inc.