Assessment tools and physiotherapeutic intervention strategies in children with the neurodegenerative condition Ataxia-Telangiectasia: a Scoping Review
DOI:
https://doi.org/10.71399/x5rhe678Keywords:
Ataxia Telangiectasia, Child, Physical Therapy, RehabilitationAbstract
This study aimed to perform a scoping review on the neurodegenerative condition in children with Ataxia-Telangiectasia, focusing on the characteristics of the samples, the physiotherapeutic intervention strategies applied, as well as the assessment instruments used. A literature search was carried out in the Web of Science, PubMed and EBSCO databases using the following keyword combinations: ("Ataxia telangiectasia") AND ("child*") AND ("physical therapy" OR "rehabilitation"). A total of 45 articles were initially identified, of which 11 met the inclusion criteria. Among these, 6 articles reported the application of intervention programs, 4 addressed only assessment tools, and 1 was a narrative study with multidisciplinary recommendations. It was concluded that most studies included children with classic Ataxia-Telangiectasia, aged between 9 and 14 years, with a predominance of male participants. Among the assessment tools are the SARA, BARS scales, and objective movement assessment instruments, such as electromyography and inertial sensors. Regarding intervention strategies, the positive role of physiotherapy was emphasized, particularly through programs focused on postural control, global mobility, and respiratory training. It is essential to develop more specific and adapted strategies, focusing on postural control, recruitment of trunk stabilizing muscles and muscle fatigue.
References
1. Abrão, R. O., Lopes, M., Silva, G. J. S., Ferraro, A. A., e Koch, V. H. (2021). Estudo da associação entre qualidade de vida genérica e específica da doença e problemas de comportamento em pacientes pediátricos com doença renal crônica em estágio 3 ou superior e a qualidade de vida e a saúde mental de seus cuidadores primários. Nefrologia pediátrica (Berlim, Alemanha), 36(10), 3201–3210. https://doi.org/10.1007/s00467-021-04986-0 DOI: https://doi.org/10.1007/s00467-021-04986-0
2. Ali, A., Rahman, M. Y., e Sheikh, D. (2024). O Papel do CRISPR/Cas9 na Revolução do Tratamento da Distrofia Muscular de Duchenne: Oportunidades e Obstáculos. Genética médica global, 11(4), 349–357. https://doi.org/10.1055/s-0044-1791803 DOI: https://doi.org/10.1055/s-0044-1791803
3. Amirifar, P., Ranjouri, M. R., Lavin, M., Abolhassani, H., Yazdani, R., & Aghamohammadi, A. (2020). Ataxia-telangiectasia: Epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management. Expert Review of Clinical Immunology, 16(9), 859–871. https://doi.org/10.1080/1744666X.2020.1810570 DOI: https://doi.org/10.1080/1744666X.2020.1810570
4. Barlow, J. H., Cullen-Powell, L. A., & Williams, H. (2007). The training & support programme for parents of children with ataxia: A pilot study. Psychology, Health & Medicine, 12(1), 64–69. https://doi.org/10.1080/13548500600580931 DOI: https://doi.org/10.1080/13548500600580931
5. Blanchard-Rohner, G., Peirolo, A., Coulon, L., Korff, C., Horvath, J., Burkhard, P. R., Gumy-Pause, F., Ranza, E., Jandus, P., Dibra, H., Taylor, A. M. R., & Fluss, J. (2022). Childhood-onset movement disorders can mask a primary immunodeficiency: 6 cases of classical ataxia-telangiectasia and variant forms. Frontiers in Immunology, 13, 791522. https://doi.org/10.3389/fimmu.2022.791522 DOI: https://doi.org/10.3389/fimmu.2022.791522
6. Boder, E., & Sedgwick, R. P. (1957). Ataxia-telangiectasia; A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics, 21(4), 526–554. DOI: https://doi.org/10.1542/peds.21.4.526
7. Cappellini, G., Sylos-Labini, F., Assenza, C., Libernini, L., Morelli, D., Lacquaniti, F., & Ivanenko, Y. (2020). Clinical relevance of state-of-the-art analysis of surface electromyography in cerebral palsy. Frontiers in Neurology, 11, 583296. https://doi.org/10.3389/fneur.2020.583296 DOI: https://doi.org/10.3389/fneur.2020.583296
8. Caso, L. E., Apkon, S. D., Eagle, M., Gulyas, A., Juel, L., Matthews, D., ... & Posselt, H. F. (2018). Gerenciamento de Reabilitação do Paciente com Distrofia Muscular de Duchenne. Pediatria, 142(Suppl 2), S17–S33. https://doi.org/10.1542/peds.2018-0333D DOI: https://doi.org/10.1542/peds.2018-0333D
9. Chrysagis, N., Skordilis, E. K., & Koutsouki, D. (2014). Validity and clinical utility of functional assessments in children with cerebral palsy. Archives of physical medicine and rehabilitation, 95(2), 369–374. https://doi.org/10.1016/j.apmr.2013.10.025 DOI: https://doi.org/10.1016/j.apmr.2013.10.025
10. Coon, E. A., Koehler, P. J., & Boes, C. J. (2018). Denise Louis-Bar: The eponymous woman of Louis-Bar syndrome. Neurology, 91(4), 175–179. https://doi.org/10.1212/WNL.0000000000005866 DOI: https://doi.org/10.1212/WNL.0000000000005866
11. Dinis, B. D. M. (2019). Aptidão muscular e composição corporal abdominal e do tronco, em jovens dos 10 aos 17 anos [Dissertação de mestrado, Universidade de Lisboa, Faculdade de Motricidade Humana]. Repositório da Universidade de Lisboa. https://repositorio.ulisboa.pt/handle/10400.5/19332
12. Félix, E., Gimenes, A. C., & Costa-Carvalho, B. T. (2014). Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. Pediatric Pulmonology, 49(3), 238–244. https://doi.org/10.1002/ppul.22828 DOI: https://doi.org/10.1002/ppul.22828
13. Franco de Moura, R. C., Almeida, C. S., Dumont, A. J. L., Lazzari, R. D., Lopes, J. B. P., Duarte, N. A. de C., Braun, L. F., & Oliveira, C. S. (2016). Kinematic upper limb evaluation of children and adolescents with cerebral palsy: A systematic review of the literature. Journal of Physical Therapy Science, 28(2), 695–700. https://doi.org/10.1589/jpts.28.695 DOI: https://doi.org/10.1589/jpts.28.695
14. Ivanenko, Y., & Gurfinkel, V. S. (2018). Human postural control. Frontiers in Neuroscience, 12, 171. https://doi.org/10.3389/fnins.2018.00171 DOI: https://doi.org/10.3389/fnins.2018.00171
15. Khan, M., Cassidy, E., Parkin, T., Wallace, A., Carter, B., Paton, J., ... & Bunn, L. (2024). The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review. Cerebellum, 23(2), 722–756. https://doi.org/10.1007/s12311-023-01555-z DOI: https://doi.org/10.1007/s12311-023-01555-z
16. Kwast, O., & Ignatowicz, R. (1990). Progressive peripheral neuron degeneration in ataxia-telangiectasia: An electrophysiological study in children. Developmental Medicine and Child Neurology, 32(9), 800–807. https://doi.org/10.1111/j.1469-8749.1990.tb08485.x DOI: https://doi.org/10.1111/j.1469-8749.1990.tb08485.x
17. Lee, J., Oubre, B., Daneault, J. F., Lee, S. I., & Gupta, A. S. (2023). Estimation of ataxia severity in children with ataxia-telangiectasia using ankle-worn sensors. Journal of Neurology, 270(10), 5097–5101. https://doi.org/10.1007/s00415-023-11786-z DOI: https://doi.org/10.1007/s00415-023-11786-z
18. Lorincz M. T. (2010). Neurologic Wilson's disease. Annals of the New York Academy ofSciences, 1184, 173–187. https://doi.org/10.1111/j.1749-6632.2009.05109.x DOI: https://doi.org/10.1111/j.1749-6632.2009.05109.x
19. McGlashan, H. L., Blanchard, C. V., Luscombe, C., Prasad, M., Chow, G., Auer, D. P., Whitehouse, W. P., & Dineen, R. A. (2022). Quality of life and neurological disability in children and young people with ataxia telangiectasia. European Journal of Paediatric Neurology, 40, 34–39. https://doi.org/10.1016/j.ejpn.2022.07.004 DOI: https://doi.org/10.1016/j.ejpn.2022.07.004
20. Moeini Shad, T., Yazdani, R., Amirifar, P., Delavari, S., Heidarzadeh Arani, M., Mahdaviani, S. A., Sadeghi-Shabestari, M., Aghamohammadi, A., Rezaei, N., & Abolhassani, H. (2022). Atypical ataxia presentation in variant ataxia telangiectasia: Iranian case-series and review of the literature. Frontiers in Immunology, 12, 779502. https://doi.org/10.3389/fimmu.2021.779502 DOI: https://doi.org/10.3389/fimmu.2021.779502
21. Mutlu, A., Alkan, H., Fırat, T., Karaduman, A. A., & Yilmaz, O. T. (2018). Como a capacidade física, a fadiga e o desempenho diferem em crianças com distrofia muscular de Duchenne em comparação com seus colegas saudáveis? Neurociências (Riyadh), 23(1), 39–45. https://doi.org/10.17712/nsj.2018.1.20170242 DOI: https://doi.org/10.17712/nsj.2018.1.20170242
22. Ortolan, R. L., da Cunha, F. L., de Carvalho, D. C. L., Franca, J. E. M., Santa Maria, A. S. L., Silva, O. L., & Cliquet Jr., A. (2001). Tendências em biomecânica ortopédica aplicadas à reabilitação. Acta Ortopédica Brasileira, 9(3), 44–58. https://doi.org/10.1590/S1413-78522001000300007 DOI: https://doi.org/10.1590/S1413-78522001000300007
23. Perdomo-Rebollo, F. G., & Kleinert-Altamirano, A. P. I. (2017). Aplicación de la escala BARS en niños con ataxia en un centro de rehabilitación infantil en Chiapas. Revista Médica del Instituto Mexicano del Seguro Social, 55(6), 715–719.
24. Petley, E., Yule, A., Alexander, S., Ojha, S., & Whitehouse, W. P. (2022). The natural history of ataxia-telangiectasia (A-T): A systematic review. PLOS ONE, 17(3), e0264177. https://doi.org/10.1371/journal.pone.0264177 DOI: https://doi.org/10.1371/journal.pone.0264177
25. Phiri, P. G. M. C., Chan, C. W. H., & Wong, C. L. (2020). The Scope of Family-Centred Care Practices, and the Facilitators and Barriers to Implementation of Family-Centred Care for Hospitalised Children and their Families in Developing Countries: An Integrative Review. Journal of Pediatric Nursing, 55, 10–28. https://doi.org/10.1016/j.pedn.2020.05.018 DOI: https://doi.org/10.1016/j.pedn.2020.05.018
26. Razzaqi, F., Albastaki, A., & Sinan, I. (2025). Ataxia telangiectasia in a Bahraini child treated with intensive physiotherapy: A case report. Hong Kong Physiotherapy Journal, 45(1), 1–9. DOI: https://doi.org/10.1142/S1013702525710015
27. Rothblum-Oviatt, C., Wright, J., Lefton-Greif, M. A., McGrath-Morrow, S. A., Crawford, T. O., & Lederman, H. M. (2016). Ataxia telangiectasia: A review. Orphanet Journal of Rare Diseases, 11(1), 159. https://doi.org/10.1186/s13023-016-0543-7 DOI: https://doi.org/10.1186/s13023-016-0543-7
28. Synofzik, M., Schatton, C., Giese, M., Wolf, J., Schöls, L., & Ilg, W. (2013). Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia. Journal of Neurology, 260(10), 2656–2658. https://doi.org/10.1007/s00415-013-7087-8 DOI: https://doi.org/10.1007/s00415-013-7087-8
29. Trapanotto, M., Giorgino, D., Zulian, F., Benini, F., & Varni, J. W. (2009). The Italian version of the PedsQL in children with rheumatic diseases. Clinical and experimental rheumatology, 27(2), 373–380
30. Tricco, A. C., Lillie, E., Zarin, W., O'Brien, K. K., Colquhoun, H., Levac, D., et al. (2018). PRISMA extension for scoping reviews (PRISMA-ScR): Checklist and explanation. Annals of Internal Medicine, 169(7), 467–473. https://doi.org/10.7326/M18-0850 DOI: https://doi.org/10.7326/M18-0850
31. Unes, S., Tuncdemir, M., Eroglu-Ertugrul, N. G., & Kerem Gunel, M. (2021). Effectiveness of physical therapy on ataxia-telangiectasia: A case report. Pediatric Physical Therapy, 33(3), E103–E107. https://doi.org/10.1097/PEP.0000000000000813 DOI: https://doi.org/10.1097/PEP.0000000000000813
32. van Os, N. J. H., Haaxma, C. A., van der Flier, M., Merkus, P. J. F. M., van Deuren, M., de Groot, I. J. M., ... & Willemsen, M. A. A. P. (2017). Ataxia-telangiectasia: Recommendations for multidisciplinary treatment. Developmental Medicine and Child Neurology, 59(7), 680–689. https://doi.org/10.1111/dmcn.13424 DOI: https://doi.org/10.1111/dmcn.13424
33. Veenhuis, S. J. G., van Os, N. J. H., van Gerven, M. H. J. C., van Haaften, L., Mulder, E. H., Weemaes, C. M. R., & Willemsen, M. A. A. P. (2021). Dysarthria in children and adults with ataxia telangiectasia. Developmental Medicine and Child Neurology, 63(4), 450–456. https://doi.org/10.1111/dmcn.14811 DOI: https://doi.org/10.1111/dmcn.14811
34. Wickstrom, J., Stergiou, N., & Kyvelidou, A. (2017). Reliability of center of pressure measures for assessing the development of sitting postural control through the stages of sitting. Gait & Posture, 56, 8–13. https://doi.org/10.1016/j.gaitpost.2017.04.031 DOI: https://doi.org/10.1016/j.gaitpost.2017.04.031
35. World Health Organization. (1986). Young people's health: A challenge for society. Report of a WHO Study Group on young people and "Health for All by the Year 2000" (Technical Report Series No. 731). World Health Orga
Downloads
Published
Issue
Section
License
Copyright (c) 2025 TER ISAVE

This work is licensed under a Creative Commons Attribution 4.0 International License.
Todos os artigos desta revista estão licenciados sob uma Licença Creative Commons Atribuição 4.0 Internacional (CC BY 4.0), permitindo a sua partilha, adaptação e reutilização, desde que a autoria original seja devidamente citada.