Locomotor Training Protocol for a Joubert Syndrome Child: A Single Case Study
DOI:
https://doi.org/10.12974/2311-8687.2025.13.07Keywords:
Child, Gait. Intervention. Joubert Syndrome. Locomotor. Participation.ParticipationAbstract
Joubert Syndrome (JS) is a rare and complex genetic ciliopathy, characterised by cerebellar malformation, resulting in hypotonia, ataxia, and profound neuropsychomotor delays, leading to challenges in gait acquisition. Evidence for effective, targeted locomotor interventions in this population is scarce. This study aimed to evaluate the effectiveness of a six-week structured locomotor training protocol on independent walking (≥10 steps) and participation. A single-case experimental design (A-B-A) was implemented. The four-year-old boy underwent 4-week intervention, with sessions administered four days per week — two conducted by the researcher and two by the family members. Outcomes included motor behavior by the Infant Motor Profile (IMP), administered three times at baseline, twice weekly during intervention, and three times post-intervention. Participation was assessed through the Young Children’s Participation and Environment Measure (YC-PEM), administered once at pre- and post-intervention. The child achieved the primary functional goal of independent walking for more than 10 consecutive steps. Parent-reported participation increased across home, school, and community settings, with a notable shift in parental support strategies. In contrast, the IMP changes were minimal. It is concluded that a focused, intensive, structured locomotor training protocol facilitated the gait acquisition and enhanced participation of a child with JS, supporting the role of task-specific, family-inclusive rehabilitation in individuals with this condition. Nevertheless, future research should explore strategies to integrate approaches addressing co-occurring behavioural challenges to optimise engagement and efficacy of neuromotor intervention programs.
References
Joubert, M., Eisenring, J. J., Robb, P., & Andermann, F. (1969). Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 19(9), 813-825. https://doi.org/10.1212/WNL.19.9.813
Bachmann-Gagescu, R., Dempsey, J. C., Bulgheroni, S., Chen, M. L., D’Arrigo, S., Glass, I. A., … & Doherty, D. (2020). Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics Part A, 182(1), 229-249. https://doi.org/10.1002/ajmg.a.61399
Parisi, M., & Vidro, I. (2017). Joubert syndrome. In M. P. Adam, G. M. Mirzaa, R. A. Pagon, et al. (Eds.), GeneReviews®. Seattle (WA): University of Washington, 1993-2023. Updated June 29, 2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1325/
Reiter, J. F., & Leroux, M. R. (2017). Genes and molecular pathways underpinning ciliopathies. Nature Reviews Molecular Cell Biology, 18(9), 533-547. https://doi.org/10.1038/nrm.2017.60
Nuovo, S., Bacigalupo, I., Ginevrino, M., Battini, R., Bertini, E., Borgatti, R., Casella, A., Micalizzi, A., Nardella, M., Romaniello, R., Serpieri, V., Zanni, G., Valente, E. M.; on behalf of JS Italian Study Group. (2020). Age and sex prevalence estimate of Joubert syndrome in Italy. Neurology, 94(8), e797-e801. https://doi.org/10.1212/WNL.0000000000008996
Barreirinho, M. S., Teixeira, J., Moreira, N. C., Bastos, S., Gonçalves, S., & Barbot, M. C. (2001). Síndrome de Joubert: revisión de 12 casos [Joubert’s syndrome: report of 12 cases]. Revista de Neurología, 32(9), 812-817. PMID: 11424029. https://doi.org/10.33588/rn.3209.2000589
Machado, C. A. F. S., Gaudard, A. C., Pereira, R. D., & Nassif, A. L. H. K. (2018). Síndrome de Joubert: um relato de caso. Residência Pediátrica, 8(3), 137-140. https://doi.org/10.25060/residpediatr-2018.v8n3-07
Parisi, M. A. (2019). The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. Translational Science of Rare Diseases, 4(1-2), 25-49. https://doi.org/10.3233/TRD-190041
Torres, M. C., Buceta, M. J., & Cajide, M. C. (2001). Development of a child with Joubert syndrome. Case Reports in Spanish Journal of Psychology, 4(1), 72-78. https://doi.org/10.1017/S1138741600005679
Lamônica, D. A. C., Ribeiro, C. C., Richieri-Costa, A., & Giacheti, C. M. (2016). Linguagem, comportamento e neurodesenvolvimento na Síndrome de Joubert: relato de caso. CoDAS, 28(6), 823-827. https://doi.org/10.1590/2317-1782/20162015184
Romani, M., Micalizzi, A., Valente, E. M. (2013). Joubert syndrome: congenital molar tooth. Lancet Neurology, 12, 894-905. https://doi.org/10.1016/S1474-4422(13)70136-4
İpek, Ö., Akyolcu, Ö., & Bayar, B. (2017). Physiotherapy and rehabilitation in a child with Joubert syndrome. Case Reports in Pediatrics, 8076494. https://doi.org/10.1155/2017/8076494
Vinolo-Gil, M. J., Casado-Fernández, E., Pérez-Cabezas, V., González-Medina, G., Martín-Vega, F. J., & Martín-Valero, R. (2021). Effects of the combination of music therapy and physiotherapy on motor function improvement in cerebral palsy: A challenge for research. Children (Basel), 8(10), 868. https://doi.org/10.3390/children8100868
Borssatti, F., Anjos, F. B., & Ribas, D. I. R. (2013). Efeitos dos exercícios de força muscular na marcha de indivíduos portadores de síndrome de Down. Fisioterapia em Movimento, 26(2), 329-335. https://doi.org/10.1590/S0103-51502013000200010
World Health Organization. (2001). International classification of functioning, disability and health: ICF. World Health Organization
Hadders-Algra, M., & Heineman, K. R. (2021). The Infant Motor Profile. London: Routledge, 174 p. https://doi.org/10.4324/9780429341915
Machado, L. R., Da Silva, C. F., Hadders-Algra, M., Tudella, E. (2022). Psychometric properties of the Infant Motor Profile (IMP): A scoping review protocol. PLOS ONE, 6; 17(11): e0277755. https://doi.org/10.1371/journal.pone.0277755
Da Silva Filho, J. A., Cazeiro, A., De Campos, A. C., Longo, E. (2020). Medida da Participação e do Ambiente - Crianças Pequenas (YC-PEM): tradução e adaptação transcultural para o uso no Brasil. Revista de Terapia Ocupacional da Universidade de São Paulo, 30(3), 140-149. https://doi.org/10.11606/issn.2238-6149.v30i3p140-149
Ulrich, D. A., Ulrich, B. D., Angulo-Kinzler, R. M., & Yun, J. (2001). Treadmill training of infants with Down syndrome: evidence-based developmental outcomes. Pediatrics, 108(5), e84. https://doi.org/10.1542/peds.108.5.e84
Schneider, K., & Zernicke, R. F. (1992). Mass, center of mass, and moment of inertia estimates for infant limb segments. Journal of Biomechanics, 25(2), 145-148. https://doi.org/10.1016/0021-9290(92)90271-2
Novak, I., Morgan, C., Fahey, M., et al. (2020). State of the evidence traffic lights 2019: systematic review of interventions for preventing and treating children with cerebral palsy. Current Neurology and Neuroscience Reports, 20(2), 3. https://doi.org/10.1007/s11910-020-1022-z
Marcelino, A. W. et al. (2017). Sistema lúdico para aumentar o treinamento de caminhada para crianças com limitações neuropsicomotoras. 16° Ergodesign. 3(11). Disponível em: . Acesso em: 20 fevereiro 2023.
Ahmed, F., Yeasmin, M. H., Akter, S., Al Zubayer, M. A., Islam, A., Tumpa, S. H., … Akter, R. (2023). Effectiveness of Multidisciplinary Rehabilitation Program of a Child with Joubert Syndrome at an Inclusive School in Bangladesh. Biomed J Sci & Tech Res, 50(5). https://doi.org/10.26717/BJSTR.2023.50.008011
Zai, W., Wang, Y., Liu, B., Yang, X., & Zhang, X. (2022). Effect of task-oriented training on gross motor function, balance, and activities of daily living in children with cerebral palsy: A systematic review and meta-analysis. Medicina - Baltimore, 101, e31565. https://doi.org/10.1097/MD.0000000000031565
Golos, A., Weintraub, N., & Gal, E. (2023). Improving participation among youth with disabilities within their unique socio-cultural context during the COVID-19 pandemic: Initial evaluation. International Journal of Environmental Research and Public Health, 20(5), 3913. https://doi.org/10.3390/ijerph20053913
Soares, A. M., & Neto, J. L. C. (2015). Avaliação do comportamento motor em crianças com transtorno do espectro do autismo: Uma revisão sistemática. Revista Brasileira de Educação Especial, 21(3), 445-458. https://doi.org/10.1590/S1413-65382115000300010
