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Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

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Abstract

Little longitudinal research has examined parental well-being in those with a child with specific genetic developmental disorder although the associated severe neurological impairments and multiple physical comorbidities likely place substantial burden of caregiving on the parent. We aimed to examine longitudinally the well-being of parents of individuals included in the Australian Rett Syndrome Database over the period from 2002 to 2011 using the Short Form 12 Health Survey. Residential remoteness, the child being a teenager at baseline, having frequent sleep disturbances or behavioural problems, and the type of MECP2 gene mutation were each associated with later poorer parental physical well-being scores. Being a single parent or on a low income was also associated with later poorer physical well-being, while the child having enteral feeding was associated with later poorer emotional well-being. Both the physical and emotional well-being of the parent improved if the child was living in out-of-home care. Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being. Being alert to the possibility and need for management of a child’s sleep or emotional disturbance is important as is awareness of the additional likely parental burden as the child moves through adolescence into early adulthood and their need for additional support at that time. However, the findings also highlight the complex nature of parental well-being over time in parents of children with a severe neurological disorder and how they may be affected by a range of inter-related family and child factors.

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References

  1. Fairthorne J, Mori Y, Leonard H (2018) Risk and protective factors for caregiver health of children with autism spectrum disorders or intellectual disability: a narrative review. J Autism. https://doi.org/10.7243/2054-992X-5-1

    Article  Google Scholar 

  2. Neul J, Kaufmann W, Glaze D, Christodoulou J, Clarke A, Bahi-Buisson N et al (2010) Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 68:944–950

    Article  PubMed  PubMed Central  Google Scholar 

  3. Fehr S, Bebbington A, Nassar N, Downs J, Ronen G, de Klerk N et al (2011) Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res 70:313–319

    Article  PubMed  PubMed Central  Google Scholar 

  4. 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. Am J Med Genet A 152A:2535–2542

    Article  PubMed  Google Scholar 

  5. Leonard H, Cobb S, Downs J (2017) Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol 13:37–51

    Article  CAS  PubMed  Google Scholar 

  6. 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. J Autism Dev Disord 45:2939–2946

    Article  PubMed  Google Scholar 

  7. 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

    Article  PubMed  Google Scholar 

  8. 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. Res Autism Spectr Disord 5:722–732

    Article  Google Scholar 

  9. Cleave J (2015) Children with special health care needs: with population-based data, better individual care plans. Pediatrics 135:e1040–e1041

    Article  PubMed  Google Scholar 

  10. Hayles E, Harvey D, Plummer D, Jones A (2015) Parents’ experiences of health care for their children with cerebral palsy. Qual Health Res 25:1139–1154

    Article  PubMed  Google Scholar 

  11. Lee J (2013) Maternal stress, well-being, and impaired sleep in mothers of children with developmental disabilities: a literature review. Res Dev Disabil 34:4255–4273

    Article  PubMed  Google Scholar 

  12. Pousada M, Guillamon N, Hernandez-Encuentra E, Munoz E, Redolar D, Boixados M et al (2013) Impact of caring for a child with cerebral palsy on the quality of life of parents: a systematic review of the literature. J Dev Phys Disabil 25:547–577

    Article  Google Scholar 

  13. Cianfaglione R, Hastings R, Felce D, Clarke A, Kerr M (2016) Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome. Dev Neurorehabil 28:1–5

    Google Scholar 

  14. Woodman A, Hauser-Cram P (2013) The role of coping strategies in predicting change in parenting efficacy and depressive symptoms among mothers of adolescents with developmental disabilities. J Intellect Disabil Res 57:513–530

    Article  CAS  PubMed  Google Scholar 

  15. Gray K, Piccinin A, Hofer S, Mackinnon A, Bontempo D, Einfeld S et al (2011) The longitudinal relationship between behavior and emotional disturbance in young people with intellectual disability and maternal mental health. Res Dev Disabil 32:1194–1204

    Article  PubMed  PubMed Central  Google Scholar 

  16. Carter A, Martinez-Pedraza F, Gray S (2009) Stability and individual change in depressive symptoms among mothers raising young children with ASD: maternal and child correlates. J Clin Psychol 65:1270–1280

    Article  PubMed  Google Scholar 

  17. Eisenhower A, Blacher J, Baker B (2013) Mothers’ perceived physical health during early and middle childhood: relations with child developmental delay and behavior problems. Res Dev Disabil 34:1059–1068

    Article  PubMed  PubMed Central  Google Scholar 

  18. Leonard H, Bower C, English D (1997) The prevalence and incidence of Rett syndrome in Australia. Eur Child Adolesc Psychiatry 6(Suppl 1):8–10

    PubMed  Google Scholar 

  19. Anderson A, Wong K, Jacoby P, Downs J, Leonard H (2014) Twenty years of surveillance in Rett syndrome: what does this tell us? Orphanet J Rare Dis 9:87

    Article  PubMed  PubMed Central  Google Scholar 

  20. Leonard H, Bower C (1998) Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol 40:115–121

    CAS  PubMed  Google Scholar 

  21. Downs J, Leonard H (2013) Longitudinal and population-based approaches to study the lifelong trajectories of children with neurodevelopmental conditions. In: Ronen G, Rosenbaum P (eds) Life quality outcomes in children and young adults with neurological and developmental conditions: concepts, evidence and practice. Mac Keith Press, United Kingdom, pp 329–343

    Google Scholar 

  22. Ware J, Kosinski M, Keller S (1995) SF-12: how to score the SF-12 physical and mental health summary scales, Second Edition. The Health Institute, New England Medical Center, Boston

    Google Scholar 

  23. Mount R, Charman T, Hastings R, Reilly S, Cass H (2002) The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. J Child Psychol Psychiatry 43:1099–1110

    Article  PubMed  Google Scholar 

  24. Epstein N, Baldwin L, Bishop D (1983) The McMaster family assessment device. J Marital Fam Ther 9:171–180

    Article  Google Scholar 

  25. Miller I, Ryan C, Keitner G, Bishop D, Epstein N (2000) The McMaster approach to families: theory, assessment, treatment and research. J Fam Ther 22:168–189

    Article  Google Scholar 

  26. Avery J, Grande E, Taylor A (2004) Quality of life in South Australia as measured by the SF12 health status questionnaire. Department of Human Services, South Australia

    Google Scholar 

  27. Perneger T, Burnand B (2005) A simple imputation algorithm reduced missing data in SF-12 health surveys. J Clin Epidemiol 58:142–149

    Article  PubMed  Google Scholar 

  28. ARIA Adelaide. Hugo Centre for migration and population research. The University of Adelaide, Australia. [cited 2017 Dec 1]. http://www.adelaide.edu.au/hugo-centre/spatial_data/aria/

  29. Downs J, Torode I, Wong K, Ellaway C, Elliot E, Christodoulou J et al (2016) The natural history of scoliosis in females with Rett syndrome. Spine (Phila Pa 1976) 41:856–863

    Article  Google Scholar 

  30. Wu L (2009) Mixed effects models for complex data. In: Isham V, Keiding N, Louis T, Smith R, Tong H (eds) Mixed effects models for complex data. Chapman & Hall/CRC, Boca Raton

    Chapter  Google Scholar 

  31. Rothman K, Greenland S, Lash T (2008) Modern epidemiology. Lippincott Williams & Wilkins, Philadelphia

    Google Scholar 

  32. Knott M, Leonard H, Downs J (2012) The diagnostic odyssey to Rett syndrome: the experience of an Australian family. Am J Med Genet A 158A:10–12

    Article  PubMed  Google Scholar 

  33. Downs J, Leonard H (2016) Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families. Wien Med Wochenschr 166:338–345

    Article  PubMed  Google Scholar 

  34. Leonard H, Cobb S, Downs J (2017) Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol. 13(1):37–51

    Article  CAS  PubMed  Google Scholar 

  35. Cianfaglione R, Hastings RP, Felce D, Clarke A, Kerr MP (2015) Psychological well-being of mothers and siblings in families of girls and women with Rett syndrome. J Autism Dev Disord 45(9):2939–2946

    Article  PubMed  Google Scholar 

  36. Lamb AE, Biesecker BB, Umstead KL, Muratori M, Biesecker LG, Erby LH (2016) Family functioning mediates adaptation in caregivers of individuals with Rett syndrome. Patient Educ Couns 99(11):1873–1879

    Article  PubMed  PubMed Central  Google Scholar 

  37. Laurvick CL, Msall ME, Silburn S, Bower C, de Klerk N, Leonard H (2006) Physical and mental health of mothers caring for a child with Rett syndrome. JAMA Pediatr 118(4):e1152–e1164

    Article  Google Scholar 

  38. Mori Y, Downs J, Wong K, Heyworth J, Leonard H (2018) Comparing parental well-being and its determinants across three different genetic disorders causing intellectual disability. J Autism Dev Disord 48(5):1651–1665

    Article  PubMed  Google Scholar 

  39. Beighton C, Wills J (2016) Are parents identifying positive aspects to parenting their child with an intellectual disability or are they just coping? A qualitative exploration. J Intellect Disabil 21:325–345

    Article  Google Scholar 

  40. Kawachi I, Adler N, Dow W (2010) Money, schooling, and health: mechanisms and causal evidence. Ann N Y Acad Sci 1186:56–68

    Article  PubMed  Google Scholar 

  41. Chen E, Miller G (2013) Socioeconomic status and health: mediating and moderating factors. Annu Rev Clin Psychol 9:723–749

    Article  PubMed  Google Scholar 

  42. Ziersch A, Baum F, Darmawan I, Kavanagh A, Bentley R (2009) Social capital and health in rural and urban communities in South Australia. Aust N Z J Public Health 33:7–16

    Article  PubMed  Google Scholar 

  43. Allen J, Inder K, Harris M, Lewin T, Attia J, Kelly B (2013) Quality of life impact of cardiovascular and affective conditions among older residents from urban and rural communities. Health Qual Life Outcomes 11:140

    Article  PubMed  PubMed Central  Google Scholar 

  44. Barak-Levy Y, Atzaba-Poria N (2015) The effects of familial risk and parental resolution on parenting a child with mild intellectual disability. Res Dev Disabil 47:106–116

    Article  PubMed  Google Scholar 

  45. Magliano L, Patalano M, Sagliocchi A, Scutifero M, Zaccaro A, D’Angelo M et al (2015) Burden, professional support, and social network in families of children and young adults with muscular dystrophies. Muscle Nerve 52:13–21

    Article  PubMed  PubMed Central  Google Scholar 

  46. Larson E, Miller-Bishoff T (2014) Family routines within the ecological niche: an analysis of the psychological well-being of US caregivers of children with disabilities. Front Psychol 5:495

    Article  PubMed  PubMed Central  Google Scholar 

  47. Jackson J, Roper S (2014) Parental adaptation to out-of-home placement of a child with severe or profound developmental disabilities. Am J Intellect Dev Disabil 119:203–219

    Article  PubMed  Google Scholar 

  48. Seltzer M, Floyd F, Song J, Greenberg J, Hong J (2011) Midlife and aging parents of adults with intellectual and developmental disabilities: impacts of lifelong parenting. Am J Intellect Dev Disabil. 116:479–499

    Article  PubMed  PubMed Central  Google Scholar 

  49. Friedman S, Kalichman M, CoCw D (2014) Out-of-home placement for children and adolescents with disabilities. Pediatrics 134:836–846

    Article  PubMed  Google Scholar 

  50. Strunk J (2010) Respite care for families of special needs children: a systematic review. J Dev Phys Disabil 22:615–630

    Article  Google Scholar 

  51. Chan J, Merriman B, Parmenter T, Stancliffe R (2012) Rethinking respite policy for people with intellectual and developmental disabilities. J Policy Pract Intellect Disabil 9:120–126

    Article  Google Scholar 

  52. 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. Res Autism Spectr Disord 5:337–344

    Article  Google Scholar 

  53. 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. J Child Health Care 17:92–108

    Article  PubMed  Google Scholar 

  54. 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 J Rare Dis 12:16

    Article  PubMed  PubMed Central  Google Scholar 

  55. Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M et al (2003) Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? J Med Genet 40:e52

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  56. Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N et al (2008) Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 70:868–875

    Article  CAS  PubMed  Google Scholar 

  57. Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P et al (2010) Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet 47:242–248

    Article  CAS  PubMed  Google Scholar 

  58. Smeets E, Ternal P, Casaer P, Peters A, Midro A, Schollen E et al (2015) Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A 132A:117–120

    Article  Google Scholar 

  59. Bebbington A, Downs J, Percy A, Pineda M, Zeev B, Bahi-Buisson N et al (2012) The phenotype associated with a large deletion on MECP2. Eur J Hum Genet 20:921–927

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  60. Young D, Bebbington A, de Klerk N, Bower C, Nagarajan L, Leonard H (2011) The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population. Res Autism Spectr Disord 5:442–449

    Article  PubMed  PubMed Central  Google Scholar 

  61. Downs J, Wong K, Ravikumara M, Ellaway C, Elliot E, Christodoulou J et al (2014) Experience of gastrostomy using a quality care framework: the example of Rett syndrome. Medicine (Baltimore) 93:e328

    Article  Google Scholar 

  62. Wong K, Downs J, Ellaway C, Baikie G, Ravikumara M, Jacoby P et al (2018) Impact of gastrostomy placement on nutritional status, physical health, and parental well-being of females with Rett syndrome: a longitudinal study of an Australian population. J Pediatr. https://doi.org/10.1016/j.jpeds.2018.04.050

    Article  PubMed  Google Scholar 

  63. Hodge D, Hoffman C, Sweeney D, Riggs M (2013) Relationship between children’s sleep and mental health in mothers with and without autism. J Autism Dev Disord 43:956–963

    Article  PubMed  Google Scholar 

  64. 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 Paediatr 101:618–623

    Article  PubMed  Google Scholar 

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Funding

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 programme Grant (#572742).

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Authors and Affiliations

  1. Telethon Kids Institute, 100 Roberts Road, Subiaco, WA, 6008, Australia

    Yuka Mori, Jenny Downs, Kingsley Wong & Helen Leonard

  2. The University of Western Australia, 35 Stirling Highway, Crawley, WA, 6009, Australia

    Yuka Mori, Jenny Downs, Kingsley Wong & Helen Leonard

  3. Department of Home Medical Treatment and Pediatrics, Osaka Developmental Rehabilitation Center, 5-11-21 Yamasaka Higashi-Sumiyoshi-ku, Osaka, 546-0035, Japan

    Yuka Mori

  4. School of Physiotherapy and Exercise Science, Curtin University, Building 408, Brand Drive, Bentley, WA, 6102, Australia

    Jenny Downs

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  1. Yuka Mori
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Correspondence to Helen Leonard.

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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.

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Mori, Y., Downs, J., Wong, K. et al. Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder. Eur Child Adolesc Psychiatry 28, 505–520 (2019). https://doi.org/10.1007/s00787-018-1214-0

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