Top

Journal of Autism and Developmental Disorders

Gepubliceerd in:

30-11-2017 | Original Paper

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

Auteurs: Yuka Mori, Jenny Downs, Kingsley Wong, Jane Heyworth, Helen Leonard

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2018

Abstract

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.

vorige artikel Predictors of Satisfaction with Life in Parents of Children with Autism Spectrum Disorder

volgende artikel Choosing an Appropriate Physical Exercise to Reduce Stereotypic Behavior in Children with Autism Spectrum Disorders: A Non-randomized Crossover Study

Alleen toegankelijk voor geautoriseerde gebruikers

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. https://doi.org/10.1186/1750-1172-9-87.CrossRefPubMedPubMedCentral

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. https://doi.org/10.1186/1750-1172-8-22.CrossRefPubMedPubMedCentral

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.

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.

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. https://doi.org/10.1038/ejhg.2012.34.CrossRefPubMedPubMedCentral

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. https://doi.org/10.1136/jmg.2009.072553.CrossRefPubMed

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. https://doi.org/10.1016/j.jpeds.2008.02.047.CrossRefPubMedPubMedCentral

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.

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. https://doi.org/10.1111/j.1365-2869.1996.00251.x.CrossRefPubMed

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. https://doi.org/10.1016/j.ridd.2014.05.012.CrossRefPubMed

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. https://doi.org/10.1111/j.1741-1130.2012.00332.x.CrossRef

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. https://doi.org/10.1007/s10803-015-2457-y.CrossRefPubMed

Cleveland, W. (1979). Robust locally weighted regression and smoothing scatterplots. Journal of the American Statistical Association, 74, 829–836.CrossRef

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. https://doi.org/10.1136/adc.88.1.38.CrossRefPubMedPubMedCentral

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. https://doi.org/10.1016/S0149-2918(00)80088-0.CrossRefPubMed

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.

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.

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. https://doi.org/10.1038/sj.ejhg.5201451.CrossRefPubMed

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.

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. https://doi.org/10.1038/pr.2011.538.CrossRefPubMedPubMedCentral

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. https://doi.org/10.1002/ajmg.a.33640.CrossRef

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. https://doi.org/10.1002/ajmg.a.37851.CrossRef

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. https://doi.org/10.1186/1866-1955-7-2.CrossRefPubMedPubMedCentral

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. https://doi.org/10.1038/ejhg.2012.156.CrossRefPubMed

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. https://doi.org/10.3109/13668250.2013.773964.CrossRefPubMed

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. https://doi.org/10.1371/journal.pone.0157667.CrossRefPubMedPubMedCentral

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. https://doi.org/10.1177/1362361311416830.CrossRefPubMed

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. https://doi.org/10.1038/nature13394.CrossRefPubMed

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. https://doi.org/10.1016/j.pedn.2014.09.013.CrossRefPubMed

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. https://doi.org/10.1002/ajmg.c.31439.CrossRef

Gupta, V. (2007). Comparison of parenting stress in different developmental disabilities. Journal of Developmental and Physical Disabilities, 19, 417–425. https://doi.org/10.1007/s10882-007-9060-x.CrossRef

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. https://doi.org/10.1002/ajmg.a.37812.CrossRef

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. https://doi.org/10.1002/ajmg.a.34418.CrossRefPubMed

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. https://doi.org/10.1007/s10803-012-1639-0.CrossRefPubMed

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. https://doi.org/10.1016/j.rasd.2010.04.017.CrossRef

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. https://doi.org/10.1093/pubmed/23.3.187.CrossRefPubMed

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. https://doi.org/10.1086/375538.CrossRef

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. https://doi.org/10.1016/S0387-7604(01)00193-0.CrossRef

Kleinbaum, D., Muller, K., & Kupper, L. (1988). Applied regression analysis and other multivariable methods. Boston: PWS-Kent Pub Co.

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. https://doi.org/10.1542/peds.2006-0439.CrossRefPubMed

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. https://doi.org/10.1016/j.ridd.2013.09.008.CrossRefPubMed

Leonard, H., Cobb, S., & Downs, J. (2017). Clinical and biological progress over 50 years in Rett syndrome. Nature Reviews Neurology, 13, 37–51. https://doi.org/10.1038/nrneurol.2016.186.CrossRefPubMed

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. https://doi.org/10.1046/j.1440-1754.2002.00736.x.CrossRefPubMed

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. https://doi.org/10.1016/j.rasd.2008.12.004.CrossRef

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.CrossRefPubMed

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. https://doi.org/10.1111/jir.12160.CrossRefPubMed

Moeschler, J., Shevell, M., & Committee on Genetics. (2014). Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics, 134, e903–e918. https://doi.org/10.1542/peds.2014-1839.CrossRefPubMed

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. https://doi.org/10.1186/s13023-016-0563-3.CrossRefPubMedPubMedCentral

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. https://doi.org/10.1002/ana.22124.CrossRefPubMedPubMedCentral

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. https://doi.org/10.1111/j.1469-8749.1999.tb00578.x.CrossRef

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.PubMed

Perneger, T., & Burnand, B. (2005). A simple imputation algorithm reduced missing data in SF-12 health surveys. Journal of Clinical Epidemiology, 58, 142–149. https://doi.org/10.1016/j.jclinepi.2004.06.005.CrossRefPubMed

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. https://doi.org/10.1080/03014460500075035.CrossRefPubMed

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. https://doi.org/10.1352/1944-7558-119.2.186.CrossRef

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. https://doi.org/10.3109/09638288.2015.1061612.CrossRef

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.CrossRef

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. https://doi.org/10.1177/1049732313505915.CrossRefPubMedPubMedCentral

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.CrossRef

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

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.CrossRef

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. https://doi.org/10.1002/mpr.260.CrossRefPubMed

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. https://doi.org/10.1016/S0074-7750(10)39003-3.CrossRef

Tibben, A. (2016). Obtaining a genetic diagnosis in a child with disability: Impact on parental quality of life. Clinical Genetics, 89, 258–266. https://doi.org/10.1111/cge.12629.CrossRef

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. https://doi.org/10.1111/j.1469-7610.2010.02295.x.CrossRefPubMed

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. https://doi.org/10.1002/ajmg.a.36971.

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. https://doi.org/10.1016/j.rasd.2010.08.006.CrossRef

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.

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.

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. https://doi.org/10.1111/j.1651-2227.2012.02603.x.CrossRefPubMed

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. https://doi.org/10.1177/1367493512447089.CrossRefPubMed

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. https://doi.org/10.1111/j.1365-2214.2012.01396.x.

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. https://doi.org/10.1016/j.socscimed.2012.07.037.CrossRef

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. https://doi.org/10.1007/s10803-012-1693-7.CrossRefPubMed

Zubrick, S., Williams, A., Silburn, S., & Vimpani, G. (2000). Indicators of social and family functioning. Canberra: The Department of Family and Community Services.CrossRef

Titel: Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability
Auteurs: Yuka Mori
Jenny Downs
Kingsley Wong
Jane Heyworth
Helen Leonard
Publicatiedatum: 30-11-2017
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 5/2018
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-017-3420-x

Andere artikelen Uitgave 5/2018

Autistic Symptoms in Children and Adolescents with Gender Dysphoria

Open Access
Original Paper

School Age Outcomes of Children with Autism Spectrum Disorder Who Received Community-Based Early Interventions

Original Paper

A Pilot Randomized Controlled Trial of the ACCESS Program: A Group Intervention to Improve Social, Adaptive Functioning, Stress Coping, and Self-Determination Outcomes in Young Adults with Autism Spectrum Disorder

Original Paper

What About the Girls? Sex-Based Differences in Autistic Traits and Adaptive Skills

Original Paper

Postural and Cortical Responses Following Visual Occlusion in Adults With and Without ASD

Original Paper

Predictors of Satisfaction with Life in Parents of Children with Autism Spectrum Disorder

Original Paper