Journal of Autism and Developmental Disorders

, Volume 48, Issue 5, pp 1651–1665 | Cite as

Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability

  • Yuka Mori
  • Jenny Downs
  • Kingsley Wong
  • Jane Heyworth
  • Helen LeonardEmail author
Original Paper


Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6–72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations.


Parental well-being Down syndrome Rett syndrome SF-12 Intellectual disability Genetic disorder 



We would like to express our sincere appreciation to all the families who have participated in the Western Australian (WA) Down Syndrome ‘Needs Opinions Wishes’ (NOW) Database, the Australian Rett Syndrome Database (ARSD) and the International CDKL5 Disorder Database (ICDD). We would also like to thank the Australian Surveillance Unit and the Rett Syndrome Association of Australia for their ongoing support in case ascertainment of the ARSD. The 2004 study of the Western Australian (WA) Down Syndrome ‘Needs Opinions Wishes’ (NOW) Database was funded by National Institutes of Health (5R01HD43100-04) and supported by the industry partners; Down syndrome WA, the Disability Services Commission, Edge Employment Solutions and the Department of Education WA. The research projects of the Australian Rett Syndrome Database (ARSD) have previously been funded by the National Institutes of Health (5R01HD043100-05) and the National Health and Medical Research Council project grants (#303189 and #1004384) and program grant (#572742). The management of the International CDKL5 Disorder Database (ICDD) has been supported by the International Foundation for CDKL5 Research. None of the funding bodies has been involved in the study design, data collection and analysis, writing of the article and decision to submit it for publication.

Authors’ Contributions

HL and JD provided access to study data; YM, JD, JH and HL conceived and designed the research plan; YM undertook the analysis with input from KW; all authors interpreted the data; YM drafted the paper and all authors edited and read the manuscript and agreed to it being submitted for publication.

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

10803_2017_3420_MOESM1_ESM.docx (30 kb)
Supplementary material 1 (DOCX 29 KB)


  1. Anderson, A., Wong, K., Jacoby, P., Downs, J., & Leonard, H. (2014). Twenty years of surveillance in Rett syndrome: What does this tell us? Orphanet Journal of Rare Diseases, 9, 87. Scholar
  2. Anderson, M., Elliot, E., & Zurynski, Y. (2013). Australian families living with rare disease: Experiences of diagnosis, health services use and needs for psychological support. Orphanet Journal of Rare Diseases, 8, 22. Scholar
  3. Avery, J., Grande, E., & Taylor, A. (2004). Quality of life in South Australia as measured by the SF12 health status questionnaire. Rundle Mall: Department of Human Services.Google Scholar
  4. Baumer, N., Barkoudah, E., & Elibol, M. (2013). Chapter 1: Neurodevelopment and neurologic examination. In K. Sims, M. Elibol, P. Musolino & J. Peters (Eds.), Handbook of pediatric neurology. Philadelphia: Wolters Kluwer Health.Google Scholar
  5. Bebbington, A., Downs, J., Percy, A., Pineda, M., Zeev, B., Bahi-Buisson, N., & Leonard, H. (2012). The phenotype associated with a large deletion on MECP2. European Journal of Human Genetics, 20, 921–927. Scholar
  6. Bebbington, A., Percy, A., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P., … Leonard, H. (2010). Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of Medical Genetics, 47, 242–248. Scholar
  7. Bourke, J., Ricciardo, B., Bebbington, A., Aiberti, K., Jacoby, P., Dyke, P., … Leonard, H. (2008). Physical and mental health in mothers of children with Down syndrome. Journal of Pediatrics, 153, 320–326. Scholar
  8. Bower, C., Baynam, G., Rudy, E., Quick, J., Rowley, A., Watson, L., & Cosgrove, P. (2015). Western Australian register of developmental anomalies 1980–2014. Perth: King Edward Memorial Hospital, Women’s and Children’s Health Service.Google Scholar
  9. Bruni, O., Ottaviano, S., Guidetti, V., Romoli, M., Innocenzi, M., Cortesi, F., & Giannotti, F. (1996). The Sleep Disturbance Scale for Children (SDSC) construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence. Journal of Sleep Research, 5, 251–261. Scholar
  10. Cantwell, J., Muldoon, O., & Gallagher, S. (2014). Social support an mastery influence the association between stress and poor physical heath in parents caring for children with developmental disabilities. Research in Developmental Disabilities, 35, 2215–2223. Scholar
  11. Chan, J., Merriman, B., Parmenter, T., & Stancliffe, R. (2012). Rethinking respite policy for people with intellectual and developmental disabilities. Journal of Policy and Practice in Intellectual Disabilities, 9, 120–126. Scholar
  12. Cianfaglione, R., Hastings, R., Felce, D., Clarke, A., & Kerr, M. (2015). Psychological well-being of mothers and siblings in families of girls and women with Rett syndrome. Journal of Autism and Developmental Disorders, 45, 2939–2946. Scholar
  13. Cleveland, W. (1979). Robust locally weighted regression and smoothing scatterplots. Journal of the American Statistical Association, 74, 829–836.CrossRefGoogle Scholar
  14. Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., de Klerk, N., … Leonard, H. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood, 88, 38–43. Scholar
  15. Delate, T., & Coons, S. (2000). The discriminative ability of the 12-item short form health survey (SF-12) in a sample of persons infected with HIV. Clinical Therapeutics, 22, 1112–1120. Scholar
  16. Downs, J., & Leonard, H. (2013). Longitudinal and population-based approaches to study the lifelong trajectories of children with neurodevelopmental conditions. In G. Ronen & P. Rosenbaum (Eds.), Life quality outcomes in children and young adults with neurological and developmental conditions: Concepts, evidence and practice (pp. 329–343). London: Mac Keith Press.Google Scholar
  17. Einfeld, S., & Tonge, B. (2002). Manual for the developmental behaviour checklist: Primary carer version (DBC-P) & teacher version (DBC-T) (2nd. ed.). Clayton: Monash University Centre for Developmental Psychiatry and Psychology.Google Scholar
  18. Evans, J., Archer, H., Colley, J., Ravn, K., Nielsen, J., Kerr, A., … Clarke, A. (2005). Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics, 13, 1113–1120. Scholar
  19. Fairthorne, J., de Klerk, N., & Leonard, H. (2015). Health of mothers of children with intellectual disability or autism spectrum disorder: A review of the literature. Medical Research Archives, 3, 1–21.Google Scholar
  20. Fehr, S., Bebbington, A., Nassar, N., Downs, J., Ronen, G., de Klerk, N., & Leonard, H. (2011). Trends in the diagnosis of Rett syndrome in Australia. Pediatric Research, 70, 313–319. Scholar
  21. Fehr, S., Downs, J., Bebbington, A., & Leonard, H. (2010). Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome. The American Journal of Human Genetics Part A, 152A, 2535–2542. Scholar
  22. Fehr, S., Downs, J., Ho, G., de Klerk, N., Forbes, D., Christodoulou, J., … Leonard, H. (2016). Functional abilities in children and adults with the CDKL5 disorder. The American Journal of Human Genetics Part A, 170A, 2860–2869. Scholar
  23. Fehr, S., Leonard, H., Ho, G., Williams, S., de Klerk, N., Forbes, D., … Downs, J. (2015). There is variability in the attainment of developmental milestones in the CDKL5 disorder. Journal of Neurodevelopmental Disorders, 7, 2. Scholar
  24. Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., … Leonard, H. (2013). The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics, 21, 266–273. Scholar
  25. Firth, I., & Dryer, R. (2013). The predictors of distress in parents of children with autism spectrum disorder. Journal of Intellectual and Developmental Disability, 38, 163–171. Scholar
  26. Foley, K., Taffe, J., Bourke, J., Einfeld, S., Tonge, B., Trollor, J., & Leonard, H. (2016). Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without Down syndrome? PLoS ONE, 11, e0157667. Scholar
  27. Giallo, R., Wood, C., Jellett, R., & Porter, R. (2011). Fatigue, wellbeing and parental self-efficacy in mothers of children with an autism spectrum disorder. Autism, 17, 465–480. Scholar
  28. Gilissen, C., Hehir-Kwa, J., Thung, D., van de Vorst, M., van Bon, B., Willemsen, M., … Veltman, J. (2014). Genome sequencing identifies major causes of severe intellectual disability. Nature, 511, 344–347. Scholar
  29. Glenn, A. (2015). Using online health communication to manage chronic sorrow: Mothers of children with rare diseases speak. Journal of Pediatric Nursing, 30, 17–24. Scholar
  30. Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., & Schwartz, A. (2015). Down syndrome: Cognitive and behavioral functioning across the lifespan. The American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 169C, 135–149. Scholar
  31. Gupta, V. (2007). Comparison of parenting stress in different developmental disabilities. Journal of Developmental and Physical Disabilities, 19, 417–425. Scholar
  32. Halbach, N., Smeets, E., Julu, P., Witt-Engerstrom, I., Pini, G., Bigoni, S., … Curfs, L. (2016). Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. American Journal of Medical Genetics Part A, 170A, 2301–2309. Scholar
  33. Halbach, N., Smeets, E., van den Braak, N., van Roozendaal, K., Blok, R., Schrander-Stumpel, C., … Curfs, L. (2012). Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. American Journal of Medical Genetics Part A, 158A, 340–350. Scholar
  34. Hodge, D., Hoffman, C., Sweeney, D., & Riggs, M. (2013). Relationship between children’s sleep and mental health in mothers with and without autism. Journal of Autism and Developmental Disorders, 43, 956–963. Scholar
  35. Ingersoll, B., & Hambrick, D. (2011). The relationship between the broader autism phenotype, child severity, and stress and depression in parents of children with autism spectrum disorders. Research in Autism Spectrum Disorders, 5, 337–344. Scholar
  36. Jenkinson, C., Chandola, T., Coulter, A., & Bruster, S. (2001). An assessment of the construct validity of the SF-12 summary scores across ethic groups. Journal of Public Health Medicine, 23, 187–194. Scholar
  37. Kalsheuer, V., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kubart, S., … Gecz, J. (2003). Disruption of the Serine/Threonine Kinase 9 gene causes severe X-linked infantile spasms and mental retardation. The American Journal of Human Genetics, 72, 1401–1411. Scholar
  38. Kerr, A., Nomura, Y., Armstrong, D., Anvret, M., Belichenko, P., Budden, S., … Segawa, M. (2001). Guidelines for reporting clinical features in cases with MECP2 mutations. Brain & Development, 23, 208–211. Scholar
  39. Kleinbaum, D., Muller, K., & Kupper, L. (1988). Applied regression analysis and other multivariable methods. Boston: PWS-Kent Pub Co.Google Scholar
  40. Laurvick, C., Msall, M., 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. Scholar
  41. Lee, J. (2013). Maternal stress, well-being, and impaired sleep in mothers of children with developmental disabilities: A literature review. Research in Developmental Disabilities, 34, 4255–4273. Scholar
  42. Leonard, H., Cobb, S., & Downs, J. (2017). Clinical and biological progress over 50 years in Rett syndrome. Nature Reviews Neurology, 13, 37–51. Scholar
  43. Leonard, S., Msall, M., Bower, C., Tremont, M., & Leonard, H. (2002). Functional status of school-aged children with Down syndrome. Journal of Paediatrics and Child Health, 38, 160–165. Scholar
  44. Louise, S., Fyfe, S., Bebbington, A., Bahi-Buisson, N., Anderson, A., Pineda, M., … Leonard, H. (2009). InterRett, a model for international data collection in a rare genetic disorder. Research in Autism Spectrum Disorders, 3, 639–659. Scholar
  45. McHorney, C., Ware, J., & Raczek, A. (1993). The MOS 36-item Short-Form Health Survey (SF-36): II. Psychometric and clinical tests of validity in measuring physical and mental health constructs. Medical Care, 31, 247–263.CrossRefPubMedGoogle Scholar
  46. Minnes, P., Perry, A., & Weiss, J. (2015). Predictors of distress and well-being in parents of young children with developmental delays and disabilities: The importance of parent perceptions. Journal of Intellectual Disability Research, 59, 551–560. Scholar
  47. Moeschler, J., Shevell, M., & Committee on Genetics. (2014). Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics, 134, e903–e918. Scholar
  48. Mori, Y., Downs, J., Wong, K., Anderson, B., Epstein, A., & Leonard, H. (2017). Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life. Orphanet Journal of Rare Diseases, 12, 16. Scholar
  49. Neul, J., Kaufmann, W., Glaze, D., Christodoulou, J., Clarke, A., Bahi-Buisson, N., … Consortium, R. (2010). Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology, 68, 944–950. Scholar
  50. Ottenbacher, K., Msall, M., Lyon, N., Duffy, L., Granger, C., & Braun, S. (1999). Measuring developmental and functional status in children with disabilities. Developmental Medicine & Child Neurology, 41, 186–194. Scholar
  51. Pangalos, C., Avramopoulos, D., Blouin, J., Raoul, O., deBlois, M., Prieur, M., … Antonarakis, S. (1994). Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. The American Journal of Human Genetics, 54, 473–481.PubMedGoogle Scholar
  52. Perneger, T., & Burnand, B. (2005). A simple imputation algorithm reduced missing data in SF-12 health surveys. Journal of Clinical Epidemiology, 58, 142–149. Scholar
  53. Petterson, R., Leonard, H., Bourke, J., Sanders, R., Chalmers, R., Jacoby, P., & Bower, C. (2005). IDEA (Intellectual Disability Exploring Answers): A population-based database for intellectual disability in Western Australia. Annals of Human Biology, 32, 237–243. Scholar
  54. Piazza, V., Floyd, F., Mailick, M., & Greenberg, J. (2014). Coping and psychological health of ageing parents of adult children with developmental disabilities. The American Journal on Intellectual and Developmental Disabilitie, 119, 186–198. Scholar
  55. Piskur, B., Meuser, S., Jongmans, M., Ketelaar, M., Smeets, R., Casparie, B., … Beurskens, A. (2016). The lived experience of parents enabling participation of their child with a physical disability at home, at school and in the community. Disability and Rehabilitation, 38, 803–812. Scholar
  56. Pousada, M., Guillamon, N., Hernandez-Encuentra, E., Munoz, E., Redolar, D., Boixados, M., & Gomez-Zuniga, B. (2013). Impact of caring for a child with cerebral palsy on the quality of life of parents: A systematic review of the literature. Journal of Developmental and Physical Disabilities, 25, 547–577.CrossRefGoogle Scholar
  57. Rehm, R., Fisher, L., Fuentes-Afflick, E., & Chesla, C. (2013). Parental advocacy styles for special education students during the transition to adulthood. Qualitative Health Research, 23, 1377–1387. Scholar
  58. Robertson, L., Hall, S., Jacoby, P., Ellaway, C., de Klerk, N., & Leonard, H. (2006). The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. American Journal of Medical Genetics Part B, 141B, 177–183.CrossRefGoogle Scholar
  59. Rothman, K., Greenland, S., & Lash, T. (2008). Modern epidemiology. Philadelphia: Lippincott Williams & Wilkins.Google Scholar
  60. Scala, E., Longo, I., Ottimo, F., Speciale, C., Sampieri, K., Katzaki, E., … Ariani, F. (2007). MECP2 deletions and genotype-phenotype correlation in Rett syndrome. American Journal of Medical Genetics Part A, 134A, 2775–2784.CrossRefGoogle Scholar
  61. Taffe, J., Tonge, B., Gray, K., & Einfeld, S. (2008). Extracting more information from behaviour checklists by using components of mean based scores. International Journal of Methods in Psychiatric Research, 17, 232–240. Scholar
  62. Thomas, K., Girdler, S., Bourke, J., Deshpande, A., Bathgate, K., Fehr, S., & Leonard, H. (2010). Chapter three—Overview of health issues in school-aged children with Down syndrome. International Review of Research in Mental Retardation, 39, 67–106. Scholar
  63. Tibben, A. (2016). Obtaining a genetic diagnosis in a child with disability: Impact on parental quality of life. Clinical Genetics, 89, 258–266. Scholar
  64. Totsika, V., Hastings, R., Emerson, E., Lancaster, G., & Berridge, D. (2011). A population-based investigation of behavioural and emotional problems and maternal mental stress: Associations with autism spectrum disorder and intellectual disability. Journal of Child Psychology and Psychiatry, 52, 91–99. Scholar
  65. Tvrdik, T., Mason, D., Dent, K., Thornton, L., Hornton, S., Viskochil, D., & Stevenson, D. (2014). Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care. American Journal of Medical Genetics Part A, 167A, 974–982. Scholar
  66. Urbanowicz, A., Downs, J., Bebbington, A., Jacoby, P., Girder, 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. Scholar
  67. Ware, J., Kosinski, M., & Keller, S. (1995). SF-12: How to score the SF-12 physical and mental health summary scales (2nd ed.). Boston: The Health Institute, New England Medical Center.Google Scholar
  68. Ware, J., Kosinski, M., Turner-Bowker, D., & Gandek, B. (2004). How to score version 2 of the SF-12 Health Survey (with a supplement documenting version 1). Licoln: QualityMetric Incorporated.Google Scholar
  69. Wayte, S., McCaughey, E., Holley, S., Annaz, D., & Hill, C. (2012). Sleep problems in children with cerebral palsy and their relationship with maternal sleep and depression. Acta Paediatrica, 101, 618–623. Scholar
  70. Whiting, M. (2012). Impact, meaning and need for help and support: The experience of parents caring for children with disabilities, life-limiting/life-threatening illness or technology dependence. Journal of Child Health Care, 17, 92–108. Scholar
  71. Whittingham, K., Wee, D., Sanders, M., & Boyd, R. (2012). Predictors of psychological adjustment, experienced parenting burden and chronic sorrow symptoms in parents of children with cerebral palsy. Child: Care, Health and Development, 39, 366–373. Scholar
  72. Woodgate, R., Edwards, M., & Ripat, J. (2012). How families of children with complex care needs participate in everyday life. Social Science & Medicine, 75, 1912–1920. Scholar
  73. Zablotsky, B., Bradshaw, C., & Stuart, E. (2013). The association between mental health, stress, and coping supports in mothers of children with autism spectrum disorders. Journal of Autism and Developmental Disorders, 43, 1380–1393. Scholar
  74. Zubrick, S., Williams, A., Silburn, S., & Vimpani, G. (2000). Indicators of social and family functioning. Canberra: The Department of Family and Community Services.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2017

Authors and Affiliations

  1. 1.Telethon Kids InstituteSubiacoAustralia
  2. 2.The University of Western AustraliaCrawleyAustralia
  3. 3.School of Physiotherapy and Exercise ScienceCurtin UniversityBentleyAustralia
  4. 4.School of Population HealthThe University of Western AustraliaNedlandsAustralia

Personalised recommendations