Possible Rehabilitation in Girls and Women with Rett Syndrome
Authors:
N. Lipowská
Authors place of work:
Rehabilitační oddělení, Nemocnice s poliklinikou Karviná – Ráj, pracoviště Orlová
primář MUDr. M. Lipowski
Published in the journal:
Rehabil. fyz. Lék., 24, 2017, No. 3, pp. 150-159.
Category:
Original Papers
Summary
Rett syndrome is a neurological disease affecting mostly female sex and also one of the most frequent causes of mental retardation in girls and women. The affected child is born without any signs of physiological deviations, but roughly from the 6th to 18th month of age there is a stagnation of motor and verbal skills. Mutation of the MECP2 gene on chromosome X is responsible for development of the disease. Therapy is only symptomatic. The following text deals with clinical manifestations of the Rett syndrome in individual stages, possibilities of rehabilitation and presents the data from questionnaire survey on actual possibilities of rehabilitation care of girls and women with the Rett syndrome in the Czech Republic.
KEYWORDS:
Rett syndrome, Dr. Andreas Rett, mutation of the MECP2 gene, psychomotor retardation, hand stereotypies
Zdroje
1. ABRAHAM, S., ZEEV, B. B., BERN, E., BUDDEN, S.: Gastro-intestinal disorders in Rett syndrome. A Telethon Kids Institute webside: Rett syndrome. [online].© 2013 [cit. 2015-05-24].
Dostupné z: http://www.interrett.org.au/media/525421/guidelines_gastro_intestinal.pdf
2. DOWNS, J., LEONARD, H., CROF, D.: Growth and nutrition in Rett syndrome. A Telethon Kids Institute webside: Rett syndrome. [online]. © 2013 [cit. 2015-05-24]. Dostupné z: http://www.interrett.org.au/media/525424/guidelines_nutrition_and_growth.pdf.
3. LEONARD, H., DOWNS, J., McKENZIE, A., ROYE, D. P. etc.: Scoliosis in Rett syndrome. A Telethon Kids Institute: Rett syndrome. [online]. [2009] [cit. 2015-05-24]. Dostupné z: http://www.aussierett.org.au/media/53031/scoliosis_booklet.pdf.
4. LOTAN, M.: Management of Rett syndrome in the controlled multisensory (snoezelen) environment. A review with three case stories. The Scientific World Journal. [online]. 2006 [cit. 2015-06-14].
Dostupné z: http://sosunord.dk/media/68392/management_of_rett_syndrome_in_the.pdf.
5. LOTAN, M.: Rett syndrome. Guidelines for individual intervention. Hindawi Publishing Corporation: The Scientific World Journal. [online]. 6. 12. 2006 [cit. 2015-07-04]. Dostupné z: http://www.hindawi.com/journals/tswj/2006/936460/abs/.
6. LOTAN, M., HANKS, S.: Research gate: Physical therapy intervention for individuals with Rett syndrome. The Scientific World Journal. [online]. 2006 [cit. 2015-06-10]. Dostupné z: http://www.researchgate.net/publication/6753318_Physical_therapy_intervention_for_individuals_with_Rett_syndrome.
7 LOTAN, M., ZEEV, B. B.: Rett syndrome. A review with emphasis on clinical characteristics and intervention. PubMed.gov: The Scientific World Journal. [online]. 6. 12. 2006 [cit. 2015-07-06]. Dostupné z: http://www.ncbi.nlm.nih.gov/pubmed/17160339.
8. McARTHUR, A. J., BUDDEN S. S.: Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment. PubMed.gov. [online]. Mar 1998 [cit. 2015-05-24]. Dostupné z: http://www.ncbi.nlm.nih.gov/pubmed/9566656.
9. SVATOŇ, V., ŠTOLCOVÁ K.: Rettův syndrom. Synlabianer. [online]. © 2014 [cit. 2015-07-06]. Dostupné z: http://synlab.cz/fileadmin/standortseiten/synlab_cz/synlabianer/Synlabianer_2014_03.pdf.
10. ZÁHORÁKOVÁ, D., MARTÁSEK P.: Rettův syndrom Academia.edu. [online]. © 2009 [cit. 2015-05-10]. Dostupné z: http://www.academia.edu/964235/Rett%C5%AFv_syndrom.
11. ZÁHORÁKOVÁ, D., LELKOVÁ P., GREGOR V., MAGNER M., ZEMAN J., MARTASEK, P.: MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype – phenotype correlations and validation of high-resolution melting analysis for mutation scanning. Nature.com: Journal of Human Genetics [online].© 2016 [cit. 2016-07-23]. Dostupné z: http://www.nature.com/search?q=zahorakova.
12. ZUMROVÁ, A., KOHOUTKOVÁ L.: Rettův syndrom. Vzácné onemocnění, na které je třeba myslet! Rett Community. [online].© 2014 [cit. 2017-01-05]. Dostupné z: http://www.rett-cz.com/res/archive/007/000849.pdf?seek=1444239961.
Další internetové zdroje:
13. Can Rett syndrome be treated?. My child without limits.org: Rett syndrome. [online].© 2015 [cit. 2015-06-10]. Dostupné z: http://www.mychildwithoutlimits.org/understand/rett-syndrome/rett-syndrom-treatment/.
14 Definition of Rett syndrome. MedicineNet.com. [online]. 1996-2015 [cit. 2015-03-27]. Dostupné z: http://www.medicinenet.com/script/main/art.asp?articlekey=11960.
15. History of Rett syndrome. Information of Rett syndrome. [online]. 10. 4. 2015 [cit. 2015-04-10]. Dostupné z: http://nawrot.psych.ndsu.nodak.edu/Courses/465Projects08/Retts/History.htm.
16. Physiotherapy and other motor intervention in Rett syndrome. Rett syndrome Svenska. [online]. 16. 5. 2015 [cit. 2015-07-19]. Dostupné z:http://rettcenter.se/en/index.htm.
17. Prevalence and incidence of Rett´s syndrome. Right diagnosis from health grades. [online]. 17. 6. 2014 [cit. 2015-04-10]. Dostupné z: http://www.rightdiagnosis.com/r/retts_syndrome/prevalence.htm.
18. Rett syndrome fact sheet. National Institute of Neurological Disorders and Stroke. [online]. 23.2.2015 [cit. 2015-05-12]. Dostupné z:http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
19. Rett syndrome. Rett Syndrome Research Trust. [online]. © 2015 [cit. 2015-07-06]. Dostupné z: http://www.rsrt.org/rett-and-mecp2-disorders/education/.
20. The History of Rett syndrome. Rettsyndrome.org. [online]. [cit. 2015-07-06]. Dostupné z: https://www.rettsyndrome.org/document.doc?id=159.
21. What are the stages of Rett syndrome?. My Child Without Limits.org. [online]. © 2015 [cit. 2015-05-12]. Dostupné z:http://www.mychildwithoutlimits.org/understand/rett-syndrome/diagnosing-rett-syndrome/stages-of-rett-syndrome/
Osobní sdělení:
22. ZÁHORÁKOVÁ, D.: Osobní sdělení diagnostikovaných osob s mutací MECP2 Laboratoří pro studium mitochondriálních poruch 1. lékařské fakulty Univerzity Karlovy v Praze - e-mailová forma. 11. 7. 2016 [cit. 2016-07-23].
Štítky
Physiotherapist, university degree Rehabilitation Sports medicineČlánok vyšiel v časopise
Rehabilitation and Physical Medicine
2017 Číslo 3
- Hope Awakens with Early Diagnosis of Parkinson's Disease Based on Skin Odor
- Deep stimulation of the globus pallidus improved clinical symptoms in a patient with refractory parkinsonism and genetic mutation
Najčítanejšie v tomto čísle
- Examination of the Patellofemoral Joint with Magnetic Resonance and Targeted Physiotherapy Procedures in Treatments of Retropatellar Pain
- Constraint Induced Movement Therapy Patients after Stroke
- The Inpatient Rehabilitation after Lower Limb Amputation, Evaluation by Functional Walk Tests
- Influence of Coactivation Therapy on Stability of Children with Cerebral Palsy