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Erschienen in: Wiener Medizinische Wochenschrift 11-12/2016

01.09.2016 | main topic

Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

verfasst von: Jenny Downs, Helen Leonard

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 11-12/2016

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Summary

Rett syndrome is a rare neurodevelopmental disorder caused by a mutation in the MECP2 gene. It is associated with severe functional impairments and medical comorbidities such as scoliosis and poor growth. The population-based and longitudinal Australian Rett Syndrome Database was established in 1993 and has supported investigations of the natural history of Rett syndrome and effectiveness of treatments, as well as a suite of qualitative studies to identify deeper meanings. This paper describes the early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis. We discuss the importance of implementing strategies to enhance daily communication and movement, describe difficulties interpreting the presence of pain and discomfort, and argue for a stronger evidence base in relation to management. Finally, we outline a framework for understanding quality of life in Rett syndrome and suggest areas of life to which we can direct efforts in order to improve quality of life. Each of these descriptions is illustrated with vignettes of child and family experiences. Clinicians and researchers must continue to build this framework of knowledge and understanding with efforts committed to providing more effective treatments and supporting the best quality of life for those affected.
Literatur
1.
Zurück zum Zitat Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, De Klerk N, et al. Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res. 2011;70(3):313–9. CrossRefPubMedPubMedCentral Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, De Klerk N, et al. Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res. 2011;70(3):313–9. CrossRefPubMedPubMedCentral
2.
Zurück zum Zitat Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X‑linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185–8. CrossRefPubMed Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X‑linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185–8. CrossRefPubMed
4.
Zurück zum Zitat Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. Rett syndrome: Revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944–50. CrossRefPubMedPubMedCentral Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. Rett syndrome: Revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944–50. CrossRefPubMedPubMedCentral
5.
Zurück zum Zitat Bao X, Downs J, Wong K, Williams S, Leonard H. Using a large international sample to investigate epilepsy in Rett syndrome. Dev Med Child Neurol. 2013;55(6):553–8. CrossRefPubMed Bao X, Downs J, Wong K, Williams S, Leonard H. Using a large international sample to investigate epilepsy in Rett syndrome. Dev Med Child Neurol. 2013;55(6):553–8. CrossRefPubMed
6.
Zurück zum Zitat Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Christodoulou J, et al. The natural history of scoliosis in females with Rett syndrome. Spine. 2016;41(10):856–63. CrossRefPubMed Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Christodoulou J, et al. The natural history of scoliosis in females with Rett syndrome. Spine. 2016;41(10):856–63. CrossRefPubMed
7.
Zurück zum Zitat Whittingham K, Wee D, Sanders MR, Boyd R. Predictors of psychological adjustment, experienced parenting burden and chronic sorrow symptoms in parents of children with cerebral palsy. Child Care Health Dev. 2013;39(3):366–73. CrossRefPubMed Whittingham K, Wee D, Sanders MR, Boyd R. Predictors of psychological adjustment, experienced parenting burden and chronic sorrow symptoms in parents of children with cerebral palsy. Child Care Health Dev. 2013;39(3):366–73. CrossRefPubMed
8.
Zurück zum Zitat Leonard H. Rett syndrome in Australlia. : The University of Western Australia; 1995. Leonard H. Rett syndrome in Australlia. : The University of Western Australia; 1995.
9.
Zurück zum Zitat Downs J, Leonard H. Longitudinal and population-based approaches to the study of the lifelong trajectories of children with neurodevelopmental conditions. In: Ronen GM, Rosenbaum PL, editors. Life quality outcomes in children and young people with neurological and developmental conditions. London: Mac Keith Press; 2013. pp. 329–43. Downs J, Leonard H. Longitudinal and population-based approaches to the study of the lifelong trajectories of children with neurodevelopmental conditions. In: Ronen GM, Rosenbaum PL, editors. Life quality outcomes in children and young people with neurological and developmental conditions. London: Mac Keith Press; 2013. pp. 329–43.
10.
Zurück zum Zitat Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Izatt MT, et al. Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study. Dev Med Child Neurol. 2016;58:632–8. CrossRefPubMed Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Izatt MT, et al. Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study. Dev Med Child Neurol. 2016;58:632–8. CrossRefPubMed
11.
Zurück zum Zitat Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol. 1998;40(2):115–21. PubMed Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol. 1998;40(2):115–21. PubMed
12.
Zurück zum Zitat Einspieler C, Kerr AM, Prechtl HF. Is the early development of girls with Rett disorder really normal? Pediatr Res. 2005;57(5 Pt 1):696–700. CrossRefPubMed Einspieler C, Kerr AM, Prechtl HF. Is the early development of girls with Rett disorder really normal? Pediatr Res. 2005;57(5 Pt 1):696–700. CrossRefPubMed
13.
Zurück zum Zitat Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, et al. Changing the perspective on early development of Rett syndrome. Res Dev Disabil. 2013;34(4):1236–9. CrossRefPubMedPubMedCentral Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, et al. Changing the perspective on early development of Rett syndrome. Res Dev Disabil. 2013;34(4):1236–9. CrossRefPubMedPubMedCentral
14.
Zurück zum Zitat Segawa M. Early motor disturbances in Rett syndrome and its pathophysiological importance. Brain Dev. 2005;27(Suppl 1):S54–S58. CrossRefPubMed Segawa M. Early motor disturbances in Rett syndrome and its pathophysiological importance. Brain Dev. 2005;27(Suppl 1):S54–S58. CrossRefPubMed
15.
Zurück zum Zitat Fehr S, Downs J, Bebbington A, Leonard H. Atypical presentations and specific genotypes are associated with a delay in diagnosis in diagnosis in females with Rett syndrome. Am J Med Genet A. 2010;152A:2535–42. CrossRefPubMed Fehr S, Downs J, Bebbington A, Leonard H. Atypical presentations and specific genotypes are associated with a delay in diagnosis in diagnosis in females with Rett syndrome. Am J Med Genet A. 2010;152A:2535–42. CrossRefPubMed
16.
Zurück zum Zitat Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008;70(11):868–75. CrossRefPubMed Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008;70(11):868–75. CrossRefPubMed
17.
Zurück zum Zitat Downs J, Stahlhut M, Wong K, Syhler B, Bisgaard AM, Jacoby P, et al. Validating the Rett Syndrome Gross Motor Scale. PLoS ONE. 2016;11(1):e0147555. CrossRefPubMedPubMedCentral Downs J, Stahlhut M, Wong K, Syhler B, Bisgaard AM, Jacoby P, et al. Validating the Rett Syndrome Gross Motor Scale. PLoS ONE. 2016;11(1):e0147555. CrossRefPubMedPubMedCentral
18.
Zurück zum Zitat Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, et al. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci USA. 2015;112(17):5509–14. CrossRefPubMedPubMedCentral Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, et al. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci USA. 2015;112(17):5509–14. CrossRefPubMedPubMedCentral
19.
Zurück zum Zitat Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, et al. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Mov Disord. 2010;25(3):282–8. CrossRefPubMed Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, et al. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Mov Disord. 2010;25(3):282–8. CrossRefPubMed
21.
Zurück zum Zitat Lim F, Downs J, Li J, Bao XH, Leonard H. Barriers to diagnosis of a rare neurological disorder in China – lived experiences of Rett syndrome families. Am J Med Genet A. 2012;158a(1):1–9. CrossRefPubMed Lim F, Downs J, Li J, Bao XH, Leonard H. Barriers to diagnosis of a rare neurological disorder in China – lived experiences of Rett syndrome families. Am J Med Genet A. 2012;158a(1):1–9. CrossRefPubMed
22.
Zurück zum Zitat Knott M, Leonard H, Downs J. The diagnostic odyssey to Rett syndrome: The experience of an Australian family. Am J Med Genet A. 2012;158A(1):10–2. CrossRefPubMed Knott M, Leonard H, Downs J. The diagnostic odyssey to Rett syndrome: The experience of an Australian family. Am J Med Genet A. 2012;158A(1):10–2. CrossRefPubMed
23.
Zurück zum Zitat World Health Organization. International Classification of Functioning, Disability and Health: ICF. Geneva: World Health Organisation; 2001. World Health Organization. International Classification of Functioning, Disability and Health: ICF. Geneva: World Health Organisation; 2001.
24.
Zurück zum Zitat Leonard H, Fyfe S, Leonard S, Msall M. Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: A snapshot across the world from the parental perspective. Disabil Rehabil. 2001;23(3–4):107–17. CrossRefPubMed Leonard H, Fyfe S, Leonard S, Msall M. Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: A snapshot across the world from the parental perspective. Disabil Rehabil. 2001;23(3–4):107–17. CrossRefPubMed
25.
Zurück zum Zitat Hagberg B. Rett syndrome: Clinical peculiarities and biological mysteries. Acta Paediatr. 1995;84(9):971–6. CrossRefPubMed Hagberg B. Rett syndrome: Clinical peculiarities and biological mysteries. Acta Paediatr. 1995;84(9):971–6. CrossRefPubMed
26.
Zurück zum Zitat Urbanowicz A, Leonard H, Girdler S, Ciccone N, Downs J. Parental perspectives on the communication abilities of their daughters with Rett syndrome. Dev Neurorehabil. 2016;19(1):17–25. CrossRefPubMed Urbanowicz A, Leonard H, Girdler S, Ciccone N, Downs J. Parental perspectives on the communication abilities of their daughters with Rett syndrome. Dev Neurorehabil. 2016;19(1):17–25. CrossRefPubMed
27.
Zurück zum Zitat Townend GS, Marschik PB, Smeets E, van de Berg R, van den Berg M, Curfs LM. Eye gaze technology as a form of augmentative and alternative communication for individuals with Rett syndrome: Experiences of families in the Netherlands. J Dev Phys Disabil. 2016;28:101–12. CrossRefPubMed Townend GS, Marschik PB, Smeets E, van de Berg R, van den Berg M, Curfs LM. Eye gaze technology as a form of augmentative and alternative communication for individuals with Rett syndrome: Experiences of families in the Netherlands. J Dev Phys Disabil. 2016;28:101–12. CrossRefPubMed
28.
Zurück zum Zitat Lotan M, Isakov E, Merrick J. Improving functional skills and physical fitness in children with Rett syndrome. J Intellect Disabil Res. 2004;48(8):730–5. CrossRefPubMed Lotan M, Isakov E, Merrick J. Improving functional skills and physical fitness in children with Rett syndrome. J Intellect Disabil Res. 2004;48(8):730–5. CrossRefPubMed
29.
Zurück zum Zitat Lotan M, Schenker R, Wine J, Downs J. The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study. Dev Neurorehabil. 2012;15(1):19–25. CrossRefPubMed Lotan M, Schenker R, Wine J, Downs J. The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study. Dev Neurorehabil. 2012;15(1):19–25. CrossRefPubMed
30.
Zurück zum Zitat Epstein A, Leonard H, Davis E, Williams K, Reddihough D, Murphy N, et al. Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods. Am J Med Genet A. 2015; doi: 10.​1002/​ajmg.​a.​37500. PubMed Epstein A, Leonard H, Davis E, Williams K, Reddihough D, Murphy N, et al. Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods. Am J Med Genet A. 2015; doi: 10.​1002/​ajmg.​a.​37500. PubMed
31.
Zurück zum Zitat Tarquinio DC, Motil KJ, Hou W, Lee H‑S, Glaze DG, Skinner SA, et al. Growth failure and outcome in Rett syndrome specific growth references. Neurology. 2012;79(16):1653–61. CrossRefPubMedPubMedCentral Tarquinio DC, Motil KJ, Hou W, Lee H‑S, Glaze DG, Skinner SA, et al. Growth failure and outcome in Rett syndrome specific growth references. Neurology. 2012;79(16):1653–61. CrossRefPubMedPubMedCentral
32.
Zurück zum Zitat Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, et al. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 2012;55(3):292–8. CrossRefPubMedPubMedCentral Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, et al. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 2012;55(3):292–8. CrossRefPubMedPubMedCentral
33.
Zurück zum Zitat Julu PO, Kerr AM, Apartopoulos F, Al-Rawas S, Witt Engerstrom I, Engerstrom L, et al. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child. 2001;85(1):29–37. CrossRefPubMedPubMedCentral Julu PO, Kerr AM, Apartopoulos F, Al-Rawas S, Witt Engerstrom I, Engerstrom L, et al. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child. 2001;85(1):29–37. CrossRefPubMedPubMedCentral
35.
Zurück zum Zitat Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, et al. Early determinants of fractures in Rett syndrome. Pediatrics. 2008;121(3):540–6. CrossRefPubMed Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, et al. Early determinants of fractures in Rett syndrome. Pediatrics. 2008;121(3):540–6. CrossRefPubMed
36.
Zurück zum Zitat Downs J, Geranton S, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, et al. Linking MECP2 and pain sensitivity: The example of Rett syndrome. Am J Med Genet A. 2010; doi: 10.​1002/​ajmg.​a.​33314. Downs J, Geranton S, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, et al. Linking MECP2 and pain sensitivity: The example of Rett syndrome. Am J Med Genet A. 2010; doi: 10.​1002/​ajmg.​a.​33314.
38.
Zurück zum Zitat Regnard C, Reynolds J, Watson B, Matthews D, Gibson L, Clarke C. Understanding distress in people with severe communication difficulties: Developing and assessing the Disability Distress Assessment Tool (DisDAT). J Intellect Disabil Res. 2007;51(Pt 4):277–92. CrossRefPubMed Regnard C, Reynolds J, Watson B, Matthews D, Gibson L, Clarke C. Understanding distress in people with severe communication difficulties: Developing and assessing the Disability Distress Assessment Tool (DisDAT). J Intellect Disabil Res. 2007;51(Pt 4):277–92. CrossRefPubMed
39.
Zurück zum Zitat Marr C, Leonard H, Torode I, Downs J. Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences. Child Care Health Dev. 2015; doi: 10.​1111/​cch.​12243. PubMed Marr C, Leonard H, Torode I, Downs J. Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences. Child Care Health Dev. 2015; doi: 10.​1111/​cch.​12243. PubMed
40.
Zurück zum Zitat Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, et al. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine. 2009;34(17):E607–E617. CrossRefPubMed Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, et al. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine. 2009;34(17):E607–E617. CrossRefPubMed
41.
Zurück zum Zitat Baikie G, Ravikumara M, Downs J, Naseem N, Wong K, Percy A, et al. Gastrointestinal dysmotility in rett syndrome. J Pediatr Gastroenterol Nutr. 2014;58(2):244–51. CrossRef Baikie G, Ravikumara M, Downs J, Naseem N, Wong K, Percy A, et al. Gastrointestinal dysmotility in rett syndrome. J Pediatr Gastroenterol Nutr. 2014;58(2):244–51. CrossRef
42.
Zurück zum Zitat Leonard H, Ravikumar M, Baikie G, Naseem N, Ellaway C, Percy A, et al. Assessment and management of nutrition and growth in Rett syndrome. J Pediatr Gastroenterol Nutr. 2013;57(4):451–60. CrossRefPubMedPubMedCentral Leonard H, Ravikumar M, Baikie G, Naseem N, Ellaway C, Percy A, et al. Assessment and management of nutrition and growth in Rett syndrome. J Pediatr Gastroenterol Nutr. 2013;57(4):451–60. CrossRefPubMedPubMedCentral
43.
Zurück zum Zitat Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, et al. Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence. PLoS ONE. 2016;11(2):e0146824. CrossRefPubMedPubMedCentral Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, et al. Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence. PLoS ONE. 2016;11(2):e0146824. CrossRefPubMedPubMedCentral
44.
Zurück zum Zitat Verdugo MA, Schalock RL, Keith KD, Stancliffe RJ. Quality of life and its measurement: Important principles and guidelines. J Intellect Disabil Res. 2005;49(10):707–17. CrossRefPubMed Verdugo MA, Schalock RL, Keith KD, Stancliffe RJ. Quality of life and its measurement: Important principles and guidelines. J Intellect Disabil Res. 2005;49(10):707–17. CrossRefPubMed
Metadaten
Titel
Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families
verfasst von
Jenny Downs
Helen Leonard
Publikationsdatum
01.09.2016
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 11-12/2016
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-016-0494-6