The Impact on the Family of Four Neurogenetic Syndromes: A Comparative Study of Parental Views
- 463 Downloads
Research on behavioral phenotypes in neurogenetic syndromes has primarily focused on aspects of the affected child’s behavior. However, the impact of having a child with a neurogenetic syndrome on aspects of family functioning can be significant and differ across syndromes. Parents (N = 381) of school-aged children with one of four neurogenetic syndromes: fragile X Syndrome (FXS), Prader Willi Syndrome (PWS), Williams Syndrome (WS) and 22q11.2 (22qDEL) were asked about challenges, restrictions, future concerns and positive aspects arising from having an affected child. Factors associated with these aspects were analysed via logistic regression. Restrictions were most often reported by parents of children with FXS. The factors significantly (p < .01) associated with the parent reported restrictions were the presence of a behavioral/psychiatric condition and a lower level of receptive communication. The challenges endorsed most often were the child’s learning and social skills difficulties. Significant differences (p < .01) between the syndromes were noted for many of the challenges. Ninety-six percent of parents endorsed at least one positive aspect but most aspects endorsed did not differ between the genetic syndromes. Having a behavioral/psychiatric condition was the only factor significantly associated (p < .01) with endorsing a lower number of positive aspects and a higher number of challenges. There are some commonalities but also significant differences across syndromes regarding views on how a child’s syndrome affects family functioning. These differences may be important with regard to how to counsel and support affected families. The presence of behavioral/psychiatric conditions is an important predictor of negative family outcome across the syndromes.
KeywordsChallenges Positive Neurogenetic Impact
The authors would like to that the parents support groups in the UK and Ireland: The Fragile X Society (UK), Irish Fragile X Society, Prader-Willi Syndrome Association (UK), Prader-Willi Syndrome Association (Ireland), Williams Syndrome Foundation (UK), Max Appeal! (VCFS support group in UK) and 22q11 Ireland.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all participants for being included in the study.
Conflict of Interest
Colin Reilly, Lelia Murtagh and Joyce Senior confirm that they have no conflicts of interest.
No animal studies were carried out by the authors for this article.
- Bailey, D. B., & Powell, T. (2005). Assessing the information needs of families in early intervention. In M. Guralnick (Ed.), The developmental systems approach to early intervention (pp. 151–183). Baltimore: Paul H. Brookes.Google Scholar
- Hastings, R. P., & Taunt, H. M. (2002). Positive perceptions in families of children with developmental disabilities. American Journal of Mental Retardation, 107, 116–127.Google Scholar
- Iosif, A.M., Sciolla, A.F., Brahmbhatt, K., (2013) Caregiver burden in fragile X families. Current Psychiatry Reviews, 9(1). doi: 10.2174/157340013805289590.Google Scholar
- Leyfer, O. T., Woodruff-Borden, J., Klein-Tasman, B. P., Fricke, J. S., & Mervis, C. B. (2006). Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams Syndrome. American Journal of Medical Genetics Part B, 141B, 615–622.Google Scholar
- Mazaheri, M. M., Rae-Seebach, R. D., Preston, H. E., Schmidt, M., Kountz-Edwards, S., Cassidy, S., et al. (2013). The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment. Journal of Intellectual Disability Research, 57, 861–873.Google Scholar
- Morris, C. (2005). Williams syndrome. In S. B. Cassidy & J. E. Allanason (Eds.), Management of genetic syndromes (2nd ed., pp. 655–665). Hoboken: Wiley.Google Scholar
- Ouyang, L., Grosse, S., Raspa, M., Bailey, D. (2010) Employment impact and financial burden for families of children with fragile X syndrome: findings from the National Fragile X survey. Journal of Intellectual Disability Research 54, 918–928.Google Scholar
- Sherman, S. (2002). In R. J. Hagerman & P. J. Hagerman (Eds.), Fragile X syndrome: diagnosis, treatment and research (3rd ed., pp. 136–168). Baltimore: Johns Hopkins University Press.Google Scholar
- Shprintzen, R. J. (2005). Velo-cardio-facial syndrome. In S. B. Cassidy & J. Allanson (Eds.), Management of genetic syndromes (2nd ed., pp. 615–632). New York: Wiley-Liss.Google Scholar
- Wang, Y. K., Samos, C. H., Peoples, R., Perez-Jurada, L. A., Nusse, R., & Francke, U. (1997). A novel human homologue of the Drosophilia frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Human Molecular Genetics, 6, 465–472.CrossRefPubMedGoogle Scholar