Journal of Autism and Developmental Disorders

, Volume 45, Issue 9, pp 2939–2946 | Cite as

Psychological Well-Being of Mothers and Siblings in Families of Girls and Women with Rett Syndrome

  • Rina Cianfaglione
  • Richard P. HastingsEmail author
  • David Felce
  • Angus Clarke
  • Michael P. Kerr
Original Paper


Few published studies have reported on the psychological well-being of family members of individuals with Rett syndrome (RTT). Eighty-seven mothers of girls and women with RTT completed a questionnaire survey about their daughters’ behavioral phenotype, current health, and behavior problems, and their own and a sibling’s well-being. Mothers reported increased anxiety but similar levels of depression when compared to a normative sample. Across all problem domains on the Strengths and Difficulties Questionnaire, child and adolescent siblings (n = 39) were reported by mothers to have fewer difficulties than a normative sample. The severity of their daughters’ RTT behavioral phenotype predicted increased anxiety and stress for mothers. Increased RTT daughters’ current health problems predicted more maternal perceptions of positive gain.


Rett syndrome Siblings Mothers Maternal depression Strengths and Difficulties Questionnaire Families 



The research reported in this paper was supported by a grant from the National Institute for Social Care and Health Research (Grant Number SCS/08-01). The information presented in this paper is the responsibility of the authors and does not necessarily reflect the views of the funding agency. The present paper is based in part on a doctoral dissertation submitted by the first author to Cardiff University. We wish to thank the families who participated in this study and also Rett UK, who have provided long term support for the British Isles Rett Syndrome Survey.


  1. Amir, R. E., Veyver, I. B., Wan, M., Tran, C. Q., Franckle, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG—Binding protein 2. Nature Genetics, 23, 185–187.CrossRefPubMedGoogle Scholar
  2. Benson, P. R., & Karlof, K. L. (2008). Child, parent, and family predictors of latter adjustment in siblings of children with autism. Research in Autism Spectrum Disorders, 2, 583–600.CrossRefGoogle Scholar
  3. Byiers, B. J., Tervo, R. C., Feyma, T. J., & Symons, F. J. (2014). Seizures and pain uncertainty associated with parenting stress and Rett Syndrome. Journal of Child Neurology, 29, 526–529.PubMedCentralCrossRefPubMedGoogle Scholar
  4. Cianfaglione, R., Clarke, A., Kerr, M., Hastings, R. P., Oliver, O., & Felce, D. (in press). A national survey of Rett syndrome: Age, clinical characteristics, current abilities and health. American Journal of Medical Genetics.Google Scholar
  5. Crawford, J. R., Henry, J. D., Crombie, C., & Taylor, E. P. (2001). Normative data for the HADS from a large non-clinical sample. British Journal of Clinical Psychology, 40, 429–434.CrossRefPubMedGoogle Scholar
  6. Cridland, E. K., Jones, S. C., Magee, C. A., & Caputi, P. (2014). Family-focused autism spectrum disorder research: A review of the utility of family systems approaches. Autism, 18, 213–222.CrossRefPubMedGoogle Scholar
  7. Einfeld, S. L., & Tonge, B. J. (1995). The Developmental Behaviour Checklist: The development and validation of an instrument for the assessment of behavioral and emotional disturbance in children and adolescents with mental retardation. Journal of Autism and Developmental Disorders, 25, 81–104.CrossRefPubMedGoogle Scholar
  8. Einfeld, S. L., & Tonge, B. J. (2002) Manual for the Developmental Behaviour Checklist (2nd edn). School of Psychiatry, University of New South Wales; Centre for Developmental Psychiatry, Monash University.Google Scholar
  9. Emerson, E., Hatton, C., Llewellyn, G., Blacker, J., & Graham, H. (2006). Socio-economic position, household composition, health status and indicators of the well-being of mothers of children with and without intellectual disabilities. Journal of Intellectual Disability Research, 50, 862–873.CrossRefPubMedGoogle Scholar
  10. Friedrich, W. N., Greenberg, M. T., & Crnic, K. (1983). A short-form of the Questionnaire on Resources and Stress. American Journal of Mental Deficiency, 88, 41–48.PubMedGoogle Scholar
  11. Glidden, L. M., & Floyd, F. J. (1997). Disaggregating parental depression and family stress in assessing families of children with developmental disabilities: A multisample analysis. American Journal on Mental Retardation, 102, 250–266.CrossRefPubMedGoogle Scholar
  12. Goodman, R. (1997). The Strengths and Difficulties Questionnaire: A research note. Journal of Child Psychology and Psychiatry, 38, 581–586.CrossRefPubMedGoogle Scholar
  13. Goodman, R. (2001). Psychometric properties of the Strengths And Difficulties Questionnaire. Journal of the American Academy of Child and Adolescent Psychiatry, 40, 1337–1345.CrossRefPubMedGoogle Scholar
  14. Goudie, A., Havercamp, S., Jamieson, B., & Sahr, T. (2013). Assessing functional impairment in siblings living with children with disability. Pediatrics, 132, e476–e483.PubMedCentralCrossRefPubMedGoogle Scholar
  15. Griffith, G. M., Hastings, R. P., Oliver, C., Howlin, P., Moss, J., Petty, J., & Tunnicliffe, P. (2011). Psychological well-being in parents of children with Angelman, Cornelia de Lange, and Cri du Chat syndromes. Journal of Intellectual Disability Research, 55, 397–410.CrossRefPubMedGoogle Scholar
  16. Griffith, G. M., Hastings, R. P., & Petalas, M. A. (2014). Fathers’ and mothers’ ratings of behavioral and emotional problems in siblings of children with Autism Spectrum Disorder. Journal of Autism and Developmental Disorders, 44, 1230–1235.CrossRefPubMedGoogle Scholar
  17. Hall, S. S., Arron, K., Sloneem, J., & Oliver, C. (2008). Health and sleep problems in Cornelia de Lange syndrome: A case control study. Journal of Intellectual Disability Research, 52, 458–468.CrossRefPubMedGoogle Scholar
  18. Hall, S. S., Burns, D. D., & Reiss, A. L. (2007). Modeling family dynamics in children with Fragile X Syndrome. Journal of Abnormal Child Psychology, 35, 29–42.CrossRefPubMedGoogle Scholar
  19. Hartley, S. L., Barker, E. T., Baker, J. K., Seltzer, M. M., & Greenberg, J. S. (2012). Marital satisfaction and life circumstances of grown children with autism across 7 years. Journal of Family Psychology, 26, 688–697.PubMedCentralCrossRefPubMedGoogle Scholar
  20. Hastings, R. P. (2007). Longitudinal relationships between sibling behavioral adjustment and behavior problems of children with developmental disabilities. Journal of Autism and Developmental Disorders, 37, 1485–1492.CrossRefPubMedGoogle Scholar
  21. Hastings, R. P., Brown, T., Mount, R. H., & Cormack, C. F. M. (2001). Exploration of psychometric properties of the Developmental Behavior Checklist. Journal of Autism and Developmental Disorders, 31, 423–431.CrossRefPubMedGoogle Scholar
  22. Hastings, R. P., Daley, D., Burns, C., & Beck, A. (2006). Maternal distress and Expressed Emotion: Cross-sectional and longitudinal relationships with behavior problems of children with intellectual disabilities. American Journal on Mental Retardation, 111, 48–61.CrossRefPubMedGoogle Scholar
  23. Hastings, R. P., & Petalas, M. A. (2014). Self-reported behaviour problems and sibling relationship quality by siblings of children with autism spectrum disorder. Child: Care Health and Development, 40, 833–839.Google Scholar
  24. Hastings, R. P., Petalas, M. A., Jones, L., & Totsika, V. (2014). Systems analysis of associations over time between maternal and sibling well-being and behavioral and emotional problems of children with autism. Research in Autism Spectrum Disorders, 8, 1516–1520.CrossRefGoogle Scholar
  25. Hastings, R. P., & Taunt, H. M. (2002). Positive perceptions in families of children with developmental disabilities. American Journal on Mental Retardation, 107, 116–127.CrossRefPubMedGoogle Scholar
  26. Herring, S., Gray, K., Taffe, J., Tonge, B., Sweeney, D., & Einfeld, S. (2006). Behaviour and emotional problems in toddlers with pervasive developmental disorders and developmental delay: Associations with parental mental health and family functioning. Journal of Intellectual Disability Research, 50, 874–882.CrossRefPubMedGoogle Scholar
  27. Jones, L., Hastings, R. P., Totsika, V., Keane, L., & Rhule, N. (2014). Child behavior problems and parental well-being in families of children with autism: The mediating role of mindfulness and acceptance. American Journal on Intellectual and Developmental Disabilities, 119, 171–185.CrossRefPubMedGoogle Scholar
  28. Laurvick, C. L., Msall, M. E., Silburn, S., Bower, C., De Klerk, N., & Leonard, H. (2006). Physical and mental health of mothers caring for a child with Rett syndrome. Pediatrics, 118, E1152–E1164.CrossRefPubMedGoogle Scholar
  29. Lecavalier, L., Leone, S., & Wiltz, J. (2006). The impact of behavior problems on caregiver stress in young people with autism spectrum disorders. Journal of Intellectual Disability Research, 50, 172–183.CrossRefPubMedGoogle Scholar
  30. Lim, F., Downs, J., Jianghong, L., Xin-Hua, B., & Leonard, H. (2013). Caring for a child with severe intellectual disability in China: The example of Rett Syndrome. Disability and Rehabilitation, 35, 343–351.CrossRefPubMedGoogle Scholar
  31. Meltzer, H., Gatward, R., Goodman, R., & Ford, F. (2000). Mental health of children and adolescence in Great Britain. London: HMSO.Google Scholar
  32. Mount, R. H., Charman, T., Hastings, R. P., Reilly, S., & Cass, H. (2002). The Rett Syndrome Behaviour Questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome. Journal of Child Psychology and Psychiatry, 43, 1099–1110.CrossRefPubMedGoogle Scholar
  33. Mulroy, S., Robertson, L., Aiberti, K., Leonard, H., & Bower, C. (2008). The impact of having a sibling with an intellectual disability: Parental perspectives in two disorders. Journal of Intellectual Disability Research, 52, 216–229.CrossRefPubMedGoogle Scholar
  34. Neely-Barnes, S. L., & Graff, J. C. (2011). Are there adverse consequences to being a sibling of a person with a disability? A propensity score analysis. Family Relations, 60, 331–341.CrossRefGoogle Scholar
  35. Neul, J. L., Kaufmann, W., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi-Buisson, N., et al. (2010). Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology, 68, 944–950.PubMedCentralCrossRefPubMedGoogle Scholar
  36. Perry, A., Sarlo-Mcgarvey, N., & Factor, D. C. (1992). Stress and family functioning in parents of girls with Rett syndrome. Journal of Autism and Developmental Disorders, 22, 235–248.CrossRefPubMedGoogle Scholar
  37. Pit-ten Cate, I. M. (2003). Family adjustment to disability and chronic illness in children. Unpublished doctoral thesis, University of Southampton.Google Scholar
  38. Seligman, M., & Darling, R. B. (2009). Ordinary families, special children: A systems approach to childhood disability. New York, NY: The Guilford Press.Google Scholar
  39. Totsika, V., Hastings, R. P., Emerson, E., Berridge, D. M., & Lancaster, G. A. (2011a). Behavior problems at five years of age and maternal mental health in autism and intellectual disability. Journal of Abnormal Child Psychology, 39, 1137–1147.CrossRefPubMedGoogle Scholar
  40. Totsika, V., Hastings, R. P., Emerson, E., Lancaster, G. A., & Berridge, D. M. (2011b). A population-based investigation of behavioural and emotional problems and maternal mental health: Associations with autism and intellectual disability. Journal of Child Psychology and Psychiatry, 52, 91–99.CrossRefPubMedGoogle Scholar
  41. Urbanowicz, A., Downs, J., Bebbington, A., Jacoby, P., Girdler, S., & Leonard, H. (2011). Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome. Research in Autism Spectrum Disorders, 5, 722–732.CrossRefGoogle Scholar
  42. Zigmond, A. S., & Snaith, R. P. (1983). The hospital anxiety and depression scale. Acta Psychiatrica Scandinavica, 67, 361–370.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Rina Cianfaglione
    • 1
  • Richard P. Hastings
    • 2
    Email author
  • David Felce
    • 1
  • Angus Clarke
    • 3
  • Michael P. Kerr
    • 1
  1. 1.Welsh Centre for Learning Disabilities, Institute of Psychological Medicine and Clinical NeurosciencesCardiff UniversityCardiffUK
  2. 2.Centre for Educational Development Appraisal and Research (CEDAR)University of WarwickCoventryUK
  3. 3.Institute of Cancer and GeneticsCardiff UniversityCardiffUK

Personalised recommendations